WorldWideScience

Sample records for death syndrome sds

  1. Quantitative trait loci underlying resistance to sudden death syndrome (SDS) in MD96-5722 by 'Spencer' recombinant inbred line population of soybean.

    Science.gov (United States)

    Anderson, J; Akond, M; Kassem, M A; Meksem, K; Kantartzi, S K

    2015-04-01

    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.

  2. Sudden death syndrome of soybean in Argentina

    Science.gov (United States)

    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...

  3. [Schedule for evaluation of the deficit syndrome in schizophrenia: Schedule for Deficit Syndrome (SDS) (Kirkpatrick et al.). Importance pertinence of the SDS. Introduction of the French version].

    Science.gov (United States)

    Ribeyre, J M; Dollfus, S; Lesieur, P; Ménard, J F; Petit, M

    1994-01-01

    The negative symptoms of schizophrenia have generated a great interest leading some authors (Crow, Andreasen, Kay) to delineate schizophrenic subtypes based on their presence or absence. Carpenter et al. have recently proposed another subtype, the deficit syndrome, based on Kraepelin's clinical description. This differs from other proposed negative subtypes and refers to the presence or absence of prominent, enduring and primary negative symptoms. Primary negative symptoms have to be due to psychophrenia itself, in other words, independent of factors such as depression, anxiety, akinesia... Kirkpatrick et al. have proposed the Schedule for the Deficit Syndrome (SDS) to reliably identify this deficit syndrome. Some studies using this instrument have supported the validity of the deficit syndrome concept. Particularly, deficit patients have clinical, neuropsychological, neurological, eye-tracking and brain imaging impairments compared to nondeficit patients. We realized a french translation of SDS and used it to study a biological index (plasma homovanillic acid, pHVA) among deficit and nondeficit schizophrenic patients. Our data suggest a specific biochemical basis for the deficit syndrome, ie, significant lower mean pHVA levels with a lack of diurnal variation for deficit patients. The french version of SDS was validated by Kirkpatrick after english back translation. We present here our psychometric data regarding reliability (assessed by weighted and unweighted kappa coefficients) and cohesiveness of the construct (assessed by rank-order correlations of each negative symptoms with the other five, using Spearman's rho). These data are quite significant and in agreement with the SDS authors.

  4. Assessing Field-Specific Risk of Soybean Sudden Death Syndrome Using Satellite Imagery in Iowa.

    Science.gov (United States)

    Yang, S; Li, X; Chen, C; Kyveryga, P; Yang, X B

    2016-08-01

    Moderate resolution imaging spectroradiometer (MODIS) satellite imagery from 2004 to 2013 were used to assess the field-specific risks of soybean sudden death syndrome (SDS) caused by Fusarium virguliforme in Iowa. Fields with a high frequency of significant decrease (>10%) of the normalized difference vegetation index (NDVI) observed in late July to middle August on historical imagery were hypothetically considered as high SDS risk. These high-risk fields had higher slopes and shorter distances to flowlines, e.g., creeks and drainages, particularly in the Des Moines lobe. Field data in 2014 showed a significantly higher SDS level in the high-risk fields than fields selected without considering NDVI information. On average, low-risk fields had 10 times lower F. virguliforme soil density, determined by quantitative polymerase chain reaction, compared with other surveyed fields. Ordinal logistic regression identified positive correlations between SDS and slope, June NDVI, and May maximum temperature, but high June maximum temperature hindered SDS. A modeled SDS risk map showed a clear trend of potential disease occurrences across Iowa. Landsat imagery was analyzed similarly, to discuss the ability to utilize higher spatial resolution data. The results demonstrated the great potential of both MODIS and Landsat imagery for SDS field-specific risk assessment.

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

    Science.gov (United States)

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

    1990-08-01

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

  6. Sudden Infant Death Syndrome (SIDS)

    Science.gov (United States)

    Sudden infant death syndrome (SIDS) Overview Sudden infant death syndrome (SIDS) is the unexplained death, usually during sleep, of a seemingly healthy baby ... year old. SIDS is sometimes known as crib death because the infants often die in their cribs. ...

  7. Cardiac channelopathies and sudden infant death syndrome

    DEFF Research Database (Denmark)

    Tfelt-Hansen, Jacob; Winkel, Bo Gregers; Grunnet, Morten

    2011-01-01

    Sudden infant death syndrome (SIDS) is always a devastating and unexpected occurrence. SIDS is the leading cause of death in the first 6 months after birth in the industrialized world. Since the discovery in 1998 of long QT syndrome as an underlying substrate for SIDS, around 10-20% of SIDS cases...

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

    Science.gov (United States)

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

    2014-01-01

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

  9. Brugada Syndrome in a Patient with Vascular Ehlers-Danlos Syndrome: Sudden Death Risk Amplified.

    Science.gov (United States)

    D'Souza, Jason; Malhotra, Divyanshu; Goud, Aditya; Dahagam, Chanukya; Everett, George

    2017-04-19

    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.

  10. Sudden cardiac death in children and adolescents (excluding Sudden Infant Death Syndrome

    Directory of Open Access Journals (Sweden)

    Gajewski Kelly

    2010-01-01

    Full Text Available Sudden death in the young is rare. About 25% of cases occur during sports. Most young people with sudden cardiac death (SCD have underlying heart disease, with hypertrophic cardiomyopathy and coronary artery anomalies being commonest in most series. Arrhythmogenic right ventricular dysplasia and long QT syndrome are the most common primary arrhythmic causes of SCD. It is estimated that early cardiopulmonary resuscitation and widespread availability of automatic external defibrillators could prevent about a quarter of pediatric sudden deaths.

  11. Sudden infant death syndrome (SIDS)--standardised investigations and classification

    DEFF Research Database (Denmark)

    Bajanowski, Thomas; Vege, Ashild; Byard, Roger W

    2007-01-01

    Sudden infant death syndrome (SIDS) still accounts for considerable numbers of unexpected infant deaths in many countries. While numerous theories have been advanced to explain these events, it is increasingly clear that this group of infant deaths results from the complex interaction of a variet...

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

    Science.gov (United States)

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

    2017-08-23

    Prior studies have demonstrated a link between the metabolic syndrome and increased risk of cardiovascular mortality. Whether the metabolic syndrome is associated with sudden cardiac death is uncertain. We characterized the relationship between sudden cardiac death and metabolic syndrome status among participants of the ARIC (Atherosclerosis Risk in Communities) Study (1987-2012) free of prevalent coronary heart disease or heart failure. Among 13 168 participants, 357 (2.7%) sudden cardiac deaths occurred during a median follow-up of 23.6 years. Participants with the metabolic syndrome (n=4444) had a higher cumulative incidence of sudden cardiac death than those without it (n=8724) (4.1% versus 2.3%, P metabolic syndrome, the metabolic syndrome was independently associated with sudden cardiac death (hazard ratio, 1.70, 95% confidence interval, 1.37-2.12, P 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 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.

  13. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, T B; Nørgaard-Pedersen, B; Banner, Jytte

    2000-01-01

    in the child. This prompted us to investigate these genetic markers of thromboembolic disease in 121 cases of sudden infant death syndrome and in relevant controls, in the expectation of a more frequent occurrence of these markers if thrombosis is an etiological factor in sudden infant death syndrome......Sudden infant death syndrome or "cot death" has until the late eighties been a significant cause of death in children between the ages of 1 month and 1 year. Approximately two per 1000 children born alive dies of sudden infant death syndrome each year in Western Europe, North America, and Australia....... The vulnerability of the infant brain stem to ischemia has been suggested to be a conceivable cause of sudden infant death syndrome. This is compatible with a hypothesis that genetic risk factors for cerebral thrombosis could cause microinfarction in the brain stem during the first month of life, affecting vital...

  14. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, TB; Nørgaard-Pedersen, B; Lundemose, JB

    2000-01-01

    in the child. This prompted us to investigate these genetic markers of thromboembolic disease in 121 cases of sudden infant death syndrome and in relevant controls, in the expectation of a more frequent occurrence of these markers if thrombosis is an etiological factor in sudden infant death syndrome...... or unknown risk factors for thrombosis as possible etiological factors for sudden infant death syndrome. It is likely that we must continuously employ the exclusion principle on possible etiological causes in genetic material from a large group of victims of sudden infant death syndrome if the phenomenon...

  15. Near-death experiences and the physio-kundalini syndrome.

    Science.gov (United States)

    Greyson, B

    1993-12-01

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

  16. The analysis of Sudden Infant Death Syndrome in Poland

    Directory of Open Access Journals (Sweden)

    Anna Lewandowska

    2017-05-01

    Full Text Available Introduction: Sudden Infant Death Syndrome is defined in literature similarly as a sudden and unexpected death of an infant occurring during sleep and, at the same time, causes of which cannot be explained based on anamnesis, circumstances of death or comprehensive post-mortem examinations. Sudden Infant Death Syndrome is considered to be the most frequent cause of death among infants in the developed countries. Incidence of SIDS in the whole world ranges from about 0.1 to 6.0/1,000 live births. As much as 90% concerns deaths in the first year of life of a child, whereas 70% stands for deaths for which the cause remains unknown. In SIDS, about 90% of cases concern children under 1 year old and, in particular, at the age of between 2 and 4 months. The aim: The aim of the study was to present the most significant aspects of SIDS as well as description and analysis of risk factors for occurrence of sudden infant death syndrome based on statistical data. Materials and methods: For the purpose of the study, the secondary data analysis and desk research technique have been applied. The analysis is based on statistical data from the time period 2009-2014 released by the Central Statistical Office of Poland. Results: In 2009-2014, the highest number of deaths of infants and new-borns was reported in 2009 with the number being as high as 2,327. In the following years, the number of deaths of new-borns and infants systematically decreased. In 2010 it was 2,057 and in 2011 – 1,836, in 2012 – 1,791, in 2013 – 1,684, and in 2014 – 1,583. The highest number of deaths of boys was reported in 2009 – 1,298, while the number of deaths of girls in that year, although it was the highest in the analysed period, was lower – 1,029. Conclusions: cases of death were more frequent among boys rather than girls. The highest number of deaths was reported among infants under the age of one month and the number decreased with an increasing infants’ age. More

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

    Science.gov (United States)

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

    2017-06-01

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

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

    Science.gov (United States)

    Salim, Mubadda A.; Alpert, Bruce S.

    2001-01-01

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

  19. Febrile convulsions and sudden infant death syndrome

    DEFF Research Database (Denmark)

    Vestergaard, Mogens; Basso, Olga; Henriksen, Tine Brink

    2002-01-01

    It has been suggested that sudden infant death syndrome (SIDS) and febrile convulsions are related aetiologically. We compared the risk of SIDS in 9877 siblings of children who had had febrile convulsions with that of 20.177 siblings of children who had never had febrile convulsions. We found...

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

    Science.gov (United States)

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

    2016-05-01

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

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

    Science.gov (United States)

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

    2015-03-01

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

  2. SDS: A Framework for Scientific Data Services

    Energy Technology Data Exchange (ETDEWEB)

    Dong, Bin; Byna, Surendra; Wu, Kesheng

    2013-10-31

    Large-scale scientific applications typically write their data to parallel file systems with organizations designed to achieve fast write speeds. Analysis tasks frequently read the data in a pattern that is different from the write pattern, and therefore experience poor I/O performance. In this paper, we introduce a prototype framework for bridging the performance gap between write and read stages of data access from parallel file systems. We call this framework Scientific Data Services, or SDS for short. This initial implementation of SDS focuses on reorganizing previously written files into data layouts that benefit read patterns, and transparently directs read calls to the reorganized data. SDS follows a client-server architecture. The SDS Server manages partial or full replicas of reorganized datasets and serves SDS Clients' requests for data. The current version of the SDS client library supports HDF5 programming interface for reading data. The client library intercepts HDF5 calls and transparently redirects them to the reorganized data. The SDS client library also provides a querying interface for reading part of the data based on user-specified selective criteria. We describe the design and implementation of the SDS client-server architecture, and evaluate the response time of the SDS Server and the performance benefits of SDS.

  3. [Sudden death and cardiovascular complications in Marfan syndrome: impact of surgical intervention].

    Science.gov (United States)

    Ohtsubo, Satoshi; Itoh, Tsuyoshi

    2005-07-01

    Marfan syndrome is an autosomal dominant disorder of connective tissue characterized by abnormalities involving the skeletal, ocular, and cardiovascular systems. The cardiovascular complications of the syndrome lead to a reduced life expectancy for affected individuals if left untreated. Major cause of death include acute aortic dissection, aortic rupture, and sudden death, which resulted from congenital vascular fragility. Such life-threatening complications in Marfan syndrome can be managed effectively, by routine aortic imaging, beta-adrenergic blockade, and prophylactic replacement of the aortic root before the diameter exceeds 5.0 to 5.5 mm. Valve preserving aortic root reconstruction yielded improved postoperative quality of life compared with Bentall operation, by reducing late complications related to anticoagulants. It should be carried out before onset of aortic regurgitation for long-term native valve durability.

  4. Symptoms Before Sudden Arrhythmic Death Syndrome

    DEFF Research Database (Denmark)

    Glinge, Charlotte; Jabbari, Reza; Risgaard, Bjarke

    2015-01-01

    INTRODUCTION: No studies in an unselected and nationwide setting have characterized the symptoms and medical history of patients with sudden arrhythmic death syndrome (SADS). The aim of this study was to identify and describe the symptoms and medical history of patients before the presentation......%), palpitations (n = 2, 1%), presyncope/syncope (n = 23, 17%), and aborted SCD (n = 2, 1%). In addition, seizures (n = 25, 18%) were prevalent. In 61 (45%) SADS cases, no previous medical history were recorded. CONCLUSION: In this unselected, nationwide study of 136 young SADS patients, 35% had experienced...

  5. Definition of Sudden Infant Death and Sudden Intrauterine Unexpected Death Syndromes (SIDS and SIUDS with Regard to the Anatomo-Pathological Examination

    Directory of Open Access Journals (Sweden)

    Giulia Ottaviani

    2016-09-01

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

  6. Dummy (pacifier) use and sudden infant death syndrome: Potential advantages and disadvantages

    NARCIS (Netherlands)

    Horne, R.S.C.; Moon, R.Y; L'Hoir, M.P.; Blair, P.S.

    2014-01-01

    The large decline in deaths due to the sudden infant death syndrome (SIDS) in the last 20 years in many countries is largely due to risk-reduction advice resulting from observational studies that examined the relationship between infant care practices and SIDS. Most of this advice remains largely

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

    DEFF Research Database (Denmark)

    Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M

    2017-01-01

    BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy...

  8. Otolaryngological aspects of sudden infant death syndrome.

    Science.gov (United States)

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

    2012-03-01

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

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

    NARCIS (Netherlands)

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

    2017-01-01

    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

  10. Use of the SDS-sedimentation test and SDS-polyacrylamidegel electrophoresis for screening breeder's samples of wheat for bread-making quality

    NARCIS (Netherlands)

    Moonen, J.H.E.; Scheepstra, A.; Graveland, A.

    1982-01-01

    Gelprotein or SDS-insoluble gel-forming glutenin was isolated from wheat flour by extraction with an aqueous 1.5% SDS solution. Remarkable intervarietal differences were observed both in amount and subunit composition of these proteins. The amount of gelprotein and the SDS-sedimentation volume both

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

    Science.gov (United States)

    Krexi, Dimitra; Sheppard, Mary N

    2017-05-01

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

  12. Removal of detergents from SDS-inactivated dextransucrase

    International Nuclear Information System (INIS)

    Husman, D.W.; Mayer, R.M.

    1986-01-01

    Dextransucrase, which is rapidly inactivated by SDS, can be reactivated upon the addition of Triton X-100. Purification of the enzyme, in good yield and homogeneity, has been achieved by chromatography in the presence of SDS. The purified enzyme can be reactivated with Triton, but has large amounts of detergents. It was important to develop procedures for their removal. Density gradient centrifugation of SDS-inactivated or Triton-reactivated enzyme, treatment with Extracti-Gel D (Pierce) or chromatography on hydroxyl apatite (HA), have been examined for their effectiveness in providing detergent-free enzyme in good yield. Ultracentrifugation of SDS-inactivated protein provided limited recovery of active enzyme, but suggested that reactivation could be achieved by the simple removal of the detergent. While similar behavior was observed when the enzyme was eluted from Extracti-Gel, it was also shown that the limited recovery was a result of irreversible inactivation of the enzyme. Recovery could be improved if the enzyme was collected in solutions containing Triton, which has been reported to be a stabilizer. Chromatography of SDS-inactivated enzyme on HA also yielded active enzyme. Good recovery was obtained when Triton-reactivated enzyme was employed in these studies. The degree of detergent removal was determined by utilizing radiolabelled SDS and Triton X-100

  13. Sexual dimorphism in stature (SDS), jealousy and mate retention.

    Science.gov (United States)

    Brewer, Gayle; Riley, Charlene

    2010-10-02

    Previous research has investigated the manner in which absolute height impacts on jealousy and mate retention. Although relative height is also important, little information exists about the potential influence of sexual dimorphism in stature (SDS) within established relationships. The current study investigated the relationship between SDS and the satisfaction, jealousy and mate retention behaviors reported by men and women. Heterosexual men (n = 98) and women (n = 102) completed a questionnaire. Men in high SDS relationships reported the lowest levels of cognitive and behavioral jealousy, although the impact of SDS on relationship satisfaction was less clear. SDS was not associated with the overall use of mate retention strategies; SDS did however affect the use of three specific strategies (vigilance, monopolization of time, love and care). SDS did not affect women's relationship satisfaction, jealousy (cognitive, behavioral, or emotional) or the use of mate retention strategies (with the exception of resource display).

  14. Sudden infant death syndrome: an unrecognized killer in developing countries

    Directory of Open Access Journals (Sweden)

    Ndu IK

    2016-02-01

    Full Text Available Ikenna Kingsley Ndu Department of Paediatrics, Enugu State University Teaching Hospital, Enugu, Nigeria Abstract: Sudden infant death syndrome (SIDS is defined as the sudden unexpected death of an infant <1 year of age, with onset of the fatal episode apparently occurring during sleep, that remains unexplained after a thorough investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. SIDS contributes to infant mortality and resulted in ~15,000 deaths globally in 2013. Most of the risk factors of SIDS are common in developing countries; yet, there has been little interest in SIDS by researchers in Africa. This review looks at the extent of the attention given to SIDS in a developing country like Nigeria, and factors responsible for the scarce data concerning this significant cause of mortality. Keywords: SIDS, mortality, Nigeria

  15. In-Hospital Death Prediction in Patients with Acute Coronary Syndrome

    Czech Academy of Sciences Publication Activity Database

    Monhart, Z.; Reissigová, Jindra; Zvárová, Jana; Grünfeldová, H.; Janský, P.; Vojáček, J.; Widimský, P.

    2013-01-01

    Roč. 1, č. 1 (2013), s. 52-52 ISSN 1805-8698. [EFMI 2013 Special Topic Conference. 17.04.2013-19.04.2013, Prague] Institutional support: RVO:67985807 Keywords : acute coronary syndrome * in-hospital death * prediction * multilevel logistic regression * non- PCI hospital Subject RIV: IN - Informatics, Computer Science

  16. A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

    Science.gov (United States)

    Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

    2016-11-01

    Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

  17. Tear fluid analysis in patients with primary Sjögren's syndrome using lectin probes

    DEFF Research Database (Denmark)

    Bjerrum, Kirsten Birgitte

    1999-01-01

    Ophthalmology, Sjögren's syndrome, dry eye, keratoconjunctivitis sicca, glycoprotein, mucus, lectins, Coomassie, electrophoresis, SDS-PAGE-blotting......Ophthalmology, Sjögren's syndrome, dry eye, keratoconjunctivitis sicca, glycoprotein, mucus, lectins, Coomassie, electrophoresis, SDS-PAGE-blotting...

  18. 47. A cardiac center experience with Brugada syndrome who survived sudden cardiac death

    Directory of Open Access Journals (Sweden)

    I. Suliman

    2016-07-01

    Full Text Available Brugada syndrome is a heritable arrhythmia syndrome that is characterized by an electrocardiographic pattern consisting of coved-type ST-segment elevation (2 mm followed by a negative T wave in the right precordial leads, V1 through V3 (often referred to as type 1 Brugada electrocardiographic pattern, here we describe 3 cases of Brugada who survived sudden cardiac death (SCD cardiac center experience with survived Brugada syndrome patients – case series. First Case: The Father 45 years old male, presented in 2005 after involvement in unprovoked motor vehicle accident, the patient was the driver who lost consciousness and rushed to the hospital. On arrival to our ER and putting the patient on the bed, the ER doctor observed a brief episode of VF on the monitor. The patient was taken to the catheterization Lab , his coronaries were normal. The diagnosis of Brugada was established and the patient received a defibrillator. At That Time all family members were screened and were negative. Second Case: The Son of the first patient 5 years later his 23 years old male rushed to our ER after he lost consciousness, he was passenger in the car of his friend. Third Case: The pilot A military pilot aged a male 35 years old was in very good health when he lost consciousness and brought to the hospital after resuscitation in 2005. He had full invasive cardiac evaluation, subsequently he received a defibrillator in the same admission period, till 2015 he is doing fine. Brugada syndrome is associated with high tendency for sudden cardiac death. In our three cases the first clinical presentation was survived sudden cardiac death (SCD and all three male patients survived. We did not encounter a female patient who survived sudden cardiac death.

  19. Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency.

    Science.gov (United States)

    Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

    2013-10-01

    In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from -3.5 at baseline to -2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study.

  20. The effect of crop sequences on soil microbial, chemical and physical indicators and its relationship with soybean sudden death syndrome (complex of Fusarium species

    Directory of Open Access Journals (Sweden)

    Carolina Perez-Brandan

    2013-12-01

    Full Text Available The effect of crop sequences on soil quality indicators and its relationship with sudden death syndrome (SDS, a complex of Fusarium species was evaluated by physical, chemical, biochemical and molecular techniques. Regarding physical aspects, soybean/maize and maize monoculture exhibited the highest stable aggregate level, with values 41% and 43% higher than in soybean monoculture, respectively, and 133% higher than in bean monoculture. Bulk density (BD was higher in soybean monoculture, being 4% higher than in bean monoculture. The chemical parameters organic matter, total N, P, K, Mg, Ca, and water holding capacity also indicated that soybean/maize and maize monoculture improved soil quality. Fungal and bacterial community fingerprints generated using Terminal Restriction Fragment Length Polymorphism analysis of intergenic transcribed spacer regions of rRNA genes and 16S rRNA genes, respectively, indicated a clear separation between the rotations. Fatty acid profiles evaluated by FAME showed that bean monoculture had higher biomass of Gram (+ bacteria and stress indicators than maize monoculture, while the soybean/maize system showed a significant increase in total microbial biomass (total FAMEs content in comparison with soybean and bean monoculture. The incidence of SDS (Fusarium crassistipitatum was markedly higher (15% under soybean monoculture than when soybean was grown in rotation with maize. In the present work, soil microbial properties were improved under soybean/maize relative to continuous soybean. The improvement of soil health was one of the main causes for the reduction of disease pressure and crop yield improvement due to the benefits that crop rotation produces for soil quality.

  1. The effect of crop sequences on soil microbial, chemical and physical indicators and its relationship with soybean sudden death syndrome (complex of Fusarium species)

    Energy Technology Data Exchange (ETDEWEB)

    Perez-Brandan, C.; Arzeno, J. L.; Huidobro, J.; Conforto, C.; Grumberg, B.; Hilton, S.; Bending, G. D.; Meriles, J. M.; Vargas-Gil, S.

    2014-06-01

    The effect of crop sequences on soil quality indicators and its relationship with sudden death syndrome (SDS, a complex of Fusarium species) was evaluated by physical, chemical, biochemical and molecular techniques. Regarding physical aspects, soybean/maize and maize mono culture exhibited the highest stable aggregate level, with values 41% and 43% higher than in soybean mono culture, respectively, and 133% higher than in bean mono culture. Bulk density (BD) was higher in soybean monoculture, being 4% higher than in bean monoculture. The chemical parameters organic matter, total N, P, K, Mg, Ca, and water holding capacity also indicated that soybean/maize and maize monoculture improved soil quality. Fungal and bacterial community fingerprints generated using Terminal Restriction Fragment Length Polymorphism analysis of intergenic transcribed spacer regions of rRNA genes and 16S rRNA genes, respectively, indicated a clear separation between the rotations. Fatty acid profiles evaluated by FAME showed that bean monoculture had higher biomass of Gram (+) bacteria and stress indicators than maize monoculture, while the soybean/maize system showed a significant increase in total microbial biomass (total FAMEs content) in comparison with soybean and bean monoculture. The incidence of SDS (Fusarium crassistipitatum) was markedly higher (15%) under soybean monoculture than when soybean was grown in rotation with maize. In the present work, soil microbial properties were improved under soybean/maize relative to continuous soybean. The improvement of soil health was one of the main causes for the reduction of disease pressure and crop yield improvement due to the benefits that crop rotation produces for soil quality. (Author)

  2. Síndrome de muerte súbita del lactante Sudden infant death syndrome

    Directory of Open Access Journals (Sweden)

    María Marlen Avalos González

    2009-09-01

    Full Text Available En nuestra área de salud se presentó un caso de muerte súbita del lactante, en un paciente de 7 meses de edad, masculino, con antecedentes de salud anterior y antecedentes patológicos familiares negativos. Fue inexplicable su muerte, aun después de realizada una necropsia completa, la investigación de la escena de la muerte y la evaluación de la historia clínica del niño y su familia. El síndrome de muerte súbita del lactante es de causa desconocida, lo más probable es que sea de etiología multifactorial, se debe de estar alerta para evitar los factores que se asocian con mayor frecuencia a estos niños y así prevenir la aparición de este síndrome.In our health area, there was a case of sudden infant death, in a patient aged 7 months, male, with previous health backgrounds and negative family pathologic backgrounds. Its death was inexplicable, even after a complete necropsy, the research of death scene, and the medical record assessment of child and its family. Sudden infant death syndrome is an unknown cause, probably of multifactor origin. We must to be on the alert to avoid the more frequent factors associating with these children, and thus to prevent appearance of this syndrome.

  3. Prenatal Alcohol Exposure and Miscarriage, Stillbirth, Preterm Delivery, and Sudden Infant Death Syndrome

    OpenAIRE

    Bailey, Beth A.; Sokol, Robert J.

    2011-01-01

    In addition to fetal alcohol syndrome and fetal alcohol spectrum disorders, prenatal alcohol exposure is associated with many other adverse pregnancy and birth outcomes. Research suggests that alcohol use during pregnancy may increase the risk of miscarriage, stillbirth, preterm delivery, and sudden infant death syndrome. This research has some inherent difficulties, such as the collection of accurate information about alcohol consumption during pregnancy and controlling for comorbid exposure...

  4. BMI and BMI SDS in childhood: annual increments and conditional change.

    Science.gov (United States)

    Brannsether, Bente; Eide, Geir Egil; Roelants, Mathieu; Bjerknes, Robert; Júlíusson, Pétur Benedikt

    2017-02-01

    Background Early detection of abnormal weight gain in childhood may be important for preventive purposes. It is still debated which annual changes in BMI should warrant attention. Aim To analyse 1-year increments of Body Mass Index (BMI) and standardised BMI (BMI SDS) in childhood and explore conditional change in BMI SDS as an alternative method to evaluate 1-year changes in BMI. Subjects and methods The distributions of 1-year increments of BMI (kg/m 2 ) and BMI SDS are summarised by percentiles. Differences according to sex, age, height, weight, initial BMI and weight status on the BMI and BMI SDS increments were assessed with multiple linear regression. Conditional change in BMI SDS was based on the correlation between annual BMI measurements converted to SDS. Results BMI increments depended significantly on sex, height, weight and initial BMI. Changes in BMI SDS depended significantly only on the initial BMI SDS. The distribution of conditional change in BMI SDS using a two-correlation model was close to normal (mean = 0.11, SD = 1.02, n = 1167), with 3.2% (2.3-4.4%) of the observations below -2 SD and 2.8% (2.0-4.0%) above +2 SD. Conclusion Conditional change in BMI SDS can be used to detect unexpected large changes in BMI SDS. Although this method requires the use of a computer, it may be clinically useful to detect aberrant weight development.

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

    Science.gov (United States)

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

    2015-01-01

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

  6. The receptor like kinase at Rhg1-a/Rfs2 caused pleiotropic resistance to sudden death syndrome and soybean cyst nematode as a transgene by altering signaling responses.

    Science.gov (United States)

    Srour, Ali; Afzal, Ahmed J; Blahut-Beatty, Laureen; Hemmati, Naghmeh; Simmonds, Daina H; Li, Wenbin; Liu, Miao; Town, Christopher D; Sharma, Hemlata; Arelli, Prakash; Lightfoot, David A

    2012-08-02

    Soybean (Glycine max (L. Merr.)) resistance to any population of Heterodera glycines (I.), or Fusarium virguliforme (Akoi, O'Donnell, Homma & Lattanzi) required a functional allele at Rhg1/Rfs2. H. glycines, the soybean cyst nematode (SCN) was an ancient, endemic, pest of soybean whereas F. virguliforme causal agent of sudden death syndrome (SDS), was a recent, regional, pest. This study examined the role of a receptor like kinase (RLK) GmRLK18-1 (gene model Glyma_18_02680 at 1,071 kbp on chromosome 18 of the genome sequence) within the Rhg1/Rfs2 locus in causing resistance to SCN and SDS. A BAC (B73p06) encompassing the Rhg1/Rfs2 locus was sequenced from a resistant cultivar and compared to the sequences of two susceptible cultivars from which 800 SNPs were found. Sequence alignments inferred that the resistance allele was an introgressed region of about 59 kbp at the center of which the GmRLK18-1 was the most polymorphic gene and encoded protein. Analyses were made of plants that were either heterozygous at, or transgenic (and so hemizygous at a new location) with, the resistance allele of GmRLK18-1. Those plants infested with either H. glycines or F. virguliforme showed that the allele for resistance was dominant. In the absence of Rhg4 the GmRLK18-1 was sufficient to confer nearly complete resistance to both root and leaf symptoms of SDS caused by F. virguliforme and provided partial resistance to three different populations of nematodes (mature female cysts were reduced by 30-50%). In the presence of Rhg4 the plants with the transgene were nearly classed as fully resistant to SCN (females reduced to 11% of the susceptible control) as well as SDS. A reduction in the rate of early seedling root development was also shown to be caused by the resistance allele of the GmRLK18-1. Field trials of transgenic plants showed an increase in foliar susceptibility to insect herbivory. The inference that soybean has adapted part of an existing pathogen recognition and

  7. The receptor like kinase at Rhg1-a/Rfs2 caused pleiotropic resistance to sudden death syndrome and soybean cyst nematode as a transgene by altering signaling responses

    Directory of Open Access Journals (Sweden)

    Srour Ali

    2012-08-01

    Full Text Available Abstract Background Soybean (Glycine max (L. Merr. resistance to any population of Heterodera glycines (I., or Fusarium virguliforme (Akoi, O’Donnell, Homma & Lattanzi required a functional allele at Rhg1/Rfs2. H. glycines, the soybean cyst nematode (SCN was an ancient, endemic, pest of soybean whereas F. virguliforme causal agent of sudden death syndrome (SDS, was a recent, regional, pest. This study examined the role of a receptor like kinase (RLK GmRLK18-1 (gene model Glyma_18_02680 at 1,071 kbp on chromosome 18 of the genome sequence within the Rhg1/Rfs2 locus in causing resistance to SCN and SDS. Results A BAC (B73p06 encompassing the Rhg1/Rfs2 locus was sequenced from a resistant cultivar and compared to the sequences of two susceptible cultivars from which 800 SNPs were found. Sequence alignments inferred that the resistance allele was an introgressed region of about 59 kbp at the center of which the GmRLK18-1 was the most polymorphic gene and encoded protein. Analyses were made of plants that were either heterozygous at, or transgenic (and so hemizygous at a new location with, the resistance allele of GmRLK18-1. Those plants infested with either H. glycines or F. virguliforme showed that the allele for resistance was dominant. In the absence of Rhg4 the GmRLK18-1 was sufficient to confer nearly complete resistance to both root and leaf symptoms of SDS caused by F. virguliforme and provided partial resistance to three different populations of nematodes (mature female cysts were reduced by 30–50%. In the presence of Rhg4 the plants with the transgene were nearly classed as fully resistant to SCN (females reduced to 11% of the susceptible control as well as SDS. A reduction in the rate of early seedling root development was also shown to be caused by the resistance allele of the GmRLK18-1. Field trials of transgenic plants showed an increase in foliar susceptibility to insect herbivory. Conclusions The inference that soybean has

  8. Sudden infant death syndrome (SIDS, substance misuse, and smoking in pregnancy

    Directory of Open Access Journals (Sweden)

    Ali K

    2012-10-01

    Full Text Available Kamal Ali, Na’eem Ahmed, Anne GreenoughDivision of Asthma, Allergy, and Lung Biology, Medical Research Council and Asthma UK Center in Allergic Mechanisms of Asthma, King’s College Hospital, London, United KingdomAbstract: In the developed world, sudden infant death syndrome (SIDS remains the leading cause of death in the post neonatal period. This review highlights the association between maternal substance misuse and SIDS, and discusses whether the increased risk is explained by abnormalities of respiratory control. Substance misuse during pregnancy is common, and although the incidence of smoking has declined in recent years among pregnant women, an increasing proportion of mothers of infants who have died of SIDS smoke. The risk of SIDS is increased in women who take opiates, but not cocaine or marijuana, although infants exposed to either of these drugs suffer morbidity, including reduced birth weight. Nicotine exposure increases the risk of SIDS, particularly if both parents smoke, and there is a dose-dependent effect. A variety of respiratory abnormalities have been described in the infants of substance abuse mothers, which may increase their risk of SIDS. These abnormalities include a reduced ability to recover from prolonged apnea and a blunted response to hypoxia and hypercarbia. These results are consistent with postmortem brainstem abnormalities reported among SIDS victims.Keywords: sudden infant death syndrome, nicotine, opiates

  9. The influence of the microbial factor on the death of animals by intestinal radiation syndrome

    International Nuclear Information System (INIS)

    Kudryavtsev, V.D.; Kartasheva, A.L.; Tsyran, N.I.

    1979-01-01

    Data obtained in rats and mice irradiated with 900 - 1600 rad 60 Co gamma radiation point to an important role of the microbial factor in the 'intestinal death'. At the climax of the intestinal syndrome dysbacterial conditions developed violently in the intestinal content under predominance of putrefactive bacteria (Proteus). The application of kanamycin according to an elaborated pattern completely suppressed the proteus growth in the intestine and decreased considerably the content of obligatory representatives of the intestinal flora by which most of the animals could survive the time of 'intestinal death' (3rd to 5th day) after irradiation with relatively low doses (900 - 1200 rad). With increasing radiation doses (up to 1400 rad and more) the antibacterial therapy became uneffective because of the increasing importance of other lethal factors. The analysis of these results as well as literature data allow the conclusion that microbial intoxication plays a leading role in the death of the animals at the initial period and at the climax of the intestinal syndrome (3rd to 4th day). At the final stage of the development of the intestinal syndrome (5th day) septicaemia supervened. (author)

  10. Brugada Syndrome: Are we doing enough to prevent sudden death?

    International Nuclear Information System (INIS)

    Buksh, Jahangir A.; Al-Hersi, Ahmad S.; Al-Nozha, Mansour M.

    2007-01-01

    Burgada syndrome (BS) is an inherited arrythmogenic disease characterized by typical ECG changes in the form of an SR pattern in VI to V2, and ST segment elevation in VI to V3 and prolongation of the QT interval in right precordial leads. This syndrome carries an increased risk of sudden death due to arrhythmias. This disease was first described in 1992 by Joseph Brugada et al and was named Brugada syndrome by Yan and Antzelvich in 1996. By 2003 more than 600 patients had been reported by Brugada et al and hundreds by others. A genetic aspect to BS is now recognized and been linked to the alpha subunit of the cardiac sodium channel gene SCN5A. Over five dozen mutations in SCN5A have been identified. Accentuation of the right ventricular notch under pathophysiological conditions leads to exaggeration of the J-wave or J-point elevation and a saddle-shaped configuration of the repolarisation waves. Diagnosis is essentially by electrocardiogram either by spontaneous changes or by provocation by sodium channel blockers drugs, e.g., procainamide, flecainide. The role of electrophysiological studies in induction of arrhythmia in asymptomatic individuals by electron beam computed tomography and signal-averaged electrocardiogram is not settled. Unfortunately, an effective drug is not available is not available at present, but quinidine has a place in treatment. New promising drugs are emerging like cilostazol and tedisamil. At present, implantation of an ICD is the only effective means of preventing sudden death. (author)

  11. Physisorption of SDS in a Hydrocarbon Nanoporous Polymer

    DEFF Research Database (Denmark)

    Li, Li; Wang, Yanwei; Vigild, Martin Etchells

    2010-01-01

    Surface modification of nanoporous 1,2-polybutadiene of pore diameter similar to 15 nm was accomplished by physisorption of sodium dodecyl sulfate (SDS) in water. Loading of the aqueous solution and the accompanying physisorption of SDS into the hydrophobic nanoporous films were investigated in a...

  12. Cushing's Syndrome and Steroid Dementia.

    Science.gov (United States)

    Bernini, Giampaolo; Tricò, Domenico

    2016-01-01

    Cushing's Syndrome (CS) is associated with a specific spectrum of dementia-like symptoms, including psychiatric disorders, such as major depression, anxiety and mania, and neurocognitive alterations, like impairment of memory and concentration. This pattern of clinical complications, which significantly impair the health-related quality of life of CS patients, is sometimes referred to as "steroid dementia syndrome" (SDS). The SDS is the result of anatomical and functional anomalies in brain areas involved in the processing of emotion and cognition, which are only partially restored after the biochemical remission of the disease. Therefore, periodical neuropsychiatric evaluations are recommended in all CS patients, and a long-term follow-up is required after normalization of hypercortisolism. Recent evidences demonstrate that three classes of drugs (glucocorticoid receptor antagonists, steroidogenesis inhibitors, and pituitary tumor-targeted drugs), which are used for medical treatment of CS, can rapidly relief neuropsychiatric symptoms of SDS. Furthermore, several psychoactive medications have demonstrated effectiveness in the treatment of symptoms induced by the acute or chronic glucocosteroid administration. In this paper, a review of the current and future patents for the treatment and prevention of CS and SDS will be presented.

  13. Identification of the protective effects of traditional medicinal plants against SDS-induced Drosophila gut damage.

    Science.gov (United States)

    Zhou, Yang; Liu, Zonglin; Chen, Yuchen; Jin, Li Hua

    2016-10-01

    Traditional medicinal plants are widely used as immunomodulatory medicines that help improve health. A total of 50 different plants used for the treatment of toxicity were screened for their in vivo protective effects. Flies were fed a standard cornmeal-yeast medium (control group) or the standard medium containing medicinal plant extracts (experimental groups). Assessment of the survival rate was performed by feeding flies with toxic compounds. Gut epithelial cells were analyzed for cell proliferation and death by green fluorescent protein antibodies and 7-aminoactinomycin D staining under the microscope. The expression of antimicrobial peptides (AMPs) was evaluated by the quantitative polymerase chain reaction and the results revealed that after feeding the flies with toxic compounds, aqueous extracts from Codonopsis pilosula (Franch.) Nannf ( C. pilosula ), Saussurea lappa (Decne.) C.B.Clarke ( S. lappa ), Imperata cylindrica Beauv.var. major (Nees) C.E. Hubb. ( I. cylindrical var. major ) and Melia toosendan Sied. Et Zucc. ( M.toosendan ) increased the fly survival rate, reduced epithelial cell death and improved gut morphology. In addition, C. pilosula extracts induced the antimicrobial peptide levels (Dpt and Mtk) following treatment with sodium dodecyl sulfate (SDS). However, these extracts were not observed to increase SDS-induced cell proliferation in vivo . These results indicate that there are strong protective effects in extracts of C. pilosula , S. lappa , I. cylindrical var. major and M. toosendan on Drosophila intestinal cells among 50 medicinal plants.

  14. SDS-Induced Fibrillation of α-Synuclein

    DEFF Research Database (Denmark)

    Giehm, L.; Oliveira, Cristiano Luis Pinto De; Pedersen, J.S.

    2010-01-01

    . In this fibrillogenic complex, 4 αSN molecules initially associate with 40-50 SDS molecules to form a shared micelle that gradually grows in size. The complex initially exhibits a mixture of random coil and α-helix, but incubation results in a structural conversion into β-sheet structure and concomitant formation......-stabilized micelles. Thus, fibrillation in this case occurs by a process of continuous accretion rather than by the rate-limiting accumulation of a distinct nucleus. The morphology of the SDS-induced fibrils does not exhibit the classical rod-like structures formed by αSN when aggregated by agitation in the absence...

  15. On the Question of the Diagnosis of Sudden Infant Death Syndrome

    Directory of Open Access Journals (Sweden)

    L. L. Nisevich

    2015-01-01

    Full Text Available Sudden Infant Death Syndrome (SIDS is one of the leading causes of postneonatal mortality of infants in most developed countries. This paper presents data on terminology and on the study of SIDS in developed countries, and also examines problems of SIDS diagnostic inRussia in comparison with the results of own researches, analyzes risk factors, which are universal as for SIDS, and also for perinatal and infant death in general. The large variability of SIDS diagnosis in Russia suggests that this diagnosis often does not comply with international standard: post-mortem examination of community-acquired sudden death cases is often carried out by a forensic expert, but not by a children's pathologist, and they do not use virological and microbiological methods of investigation. In some cases, there is no infant's record or case record from children's polyclinic.

  16. Accelerated SDS depletion from proteins by transmembrane electrophoresis: Impacts of Joule heating.

    Science.gov (United States)

    Unterlander, Nicole; Doucette, Alan Austin

    2018-02-08

    SDS plays a key role in proteomics workflows, including protein extraction, solubilization and mass-based separations (e.g. SDS-PAGE, GELFrEE). However, SDS interferes with mass spectrometry and so it must be removed prior to analysis. We recently introduced an electrophoretic platform, termed transmembrane electrophoresis (TME), enabling extensive depletion of SDS from proteins in solution with exceptional protein yields. However, our prior TME runs required 1 h to complete, being limited by Joule heating which causes protein aggregation at higher operating currents. Here, we demonstrate effective strategies to maintain lower TME sample temperatures, permitting accelerated SDS depletion. Among these strategies, the use of a magnetic stir bar to continuously agitate a model protein system (BSA) allows SDS to be depleted below 100 ppm (>98% removal) within 10 min of TME operations, while maintaining exceptional protein recovery (>95%). Moreover, these modifications allow TME to operate without any user intervention, improving throughput and robustness of the approach. Through fits of our time-course SDS depletion curves to an exponential model, we calculate SDS depletion half-lives as low as 1.2 min. This promising electrophoretic platform should provide proteomics researchers with an effective purification strategy to enable MS characterization of SDS-containing proteins. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  17. AN AUDIT OF THE SUDDEN-INFANT-DEATH-SYNDROME PREVENTION PROGRAM IN THE AUCKLAND REGION

    NARCIS (Netherlands)

    Obdeijn, M. C.; Tonkin, S.; Mitchell, E. A.

    1995-01-01

    Aim. An audit of the sudden infant death syndrome (SIDS) prevention programme in the Auckland region. Methods. 107 health professionals working in antenatal classes, postnatal wards, domiciliary midwifery and the Plunket Society were interviewed. Results. Maternal smoking and infant sleeping

  18. Best kept secrets ... Source Data Systems, Inc. (SDS).

    Science.gov (United States)

    Andrew, W F

    1991-03-01

    The SDS/MEDNET system is a cost-effective option for small- to medium-size hospitals (up to 400 beds). The parameter-driven system lets users control operations with only occasional SDS assistance. A full application set, available for modular selection to reduce upfront costs while facilitating steady growth and protecting client investment, is adaptable to multi-facility environments. The industry-standard, Intel-based multi-user processors, network communications and protocols assure high efficiency, low-cost solutions independent of any one hardware vendor. Sustained growth in both client base and product offerings point to a high level of responsiveness and healthcare industry commitment. Corporate emphasis on user involvement and open systems integration assures clients of leading-edge capabilities. SDS/MEDNET will be a strong contender in selected marketing environments.

  19. Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome

    DEFF Research Database (Denmark)

    Kempny, Aleksander; Hjortshøj, Cristel Sørensen; Gu, Hong

    2017-01-01

    : In a multicenter approach, we identified adults with Eisenmenger syndrome under follow-up between 2000 and 2015. We examined survival and its association with clinical, electrocardiographic, echocardiographic, and laboratory parameters. RESULTS: We studied 1098 patients (median age, 34.4 years; range, 16.......1-84.4 years; 65.1% female; 31.9% with Down syndrome). The majority had a posttricuspid defect (n=643, 58.6%), followed by patients with a complex (n=315, 28.7%) and pretricuspid lesion (n=140, 12.7%). Over a median follow-up of 3.1 years (interquartile range, 1.4-5.9), allowing for 4361.6 patient......-years observation, 278 patients died and 6 underwent transplantation. Twelve parameters emerged as significant predictors of death on univariable analysis. On multivariable Cox regression analysis, only age (hazard ratio [HR], 1.41/10 years; 95% confidence interval [CI], 1.24-1.59; P

  20. In-hospital Death Prediction by Multilevel Logistic Regressin in Patients with Acute Coronary Syndromes

    Czech Academy of Sciences Publication Activity Database

    Reissigová, Jindra; Monhart, Z.; Zvárová, Jana; Hanzlíček, Petr; Grünfeldová, H.; Janský, P.; Vojáček, J.; Widimský, P.

    2013-01-01

    Roč. 9, č. 1 (2013), s. 11-17 ISSN 1801-5603 Institutional support: RVO:67985807 Keywords : multilevel logistic regression * acute coronary syndromes * risk factors * in-hospital death Subject RIV: IN - Informatics, Computer Science http://www.ejbi.org/img/ejbi/2013/1/Reissigova_en.pdf

  1. On the Morphology of the SDS Film on the Surface of Borosilicate Glass

    Directory of Open Access Journals (Sweden)

    Zih-Yao Shen

    2017-05-01

    Full Text Available Surfactant films on solid surfaces have attracted much attention because of their scientific interest and applications, such as surface treatment agent, or for micro- or nano-scale templates for microfluidic devices. In this study, anionic surfactant sodium dodecyl sulfate (SDS solutions with various charged inorganic salts was spread on a glass substrate and dried to form an SDS thin film. Atomic force microscopy (AFM was employed to observe the micro-structure of the SDS thin film. The effects of inorganic salts on the morphology of the SDS film were observed and discussed. The results of experiments demonstrated that pure SDS film formed patterns of long, parallel, highly-ordered stripes. The existence of the inorganic salt disturbed the structure of the SDS film due to the interaction between the cationic ion and the anionic head groups of SDS. The divalent ion has greater electrostatic interaction with anionic head groups than that of the monovalent ion, and causes a gross change in the morphology of the SDS film. The height of the SDS bilayer measured was consistent with the theoretical value, and the addition of the large-sized monovalent ion would lead to lowering the height of the adsorbed structures.

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

    Science.gov (United States)

    Gollenberg, Audra; Fendley, Kim

    2018-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Page II RL

    2016-02-01

    Full Text Available Robert L Page II,1 Vahram Ghushchyan,2 Jill Van Den Bos,3 Travis J Gray,3 Greta L Hoetzer,4 Durgesh Bhandary,4 Kavita V Nair1 1Department of Clinical Pharmacy, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO, 2College of Business and Economics, American University of Armenia, Yerevan, Armenia; 3Milliman, Inc, Denver, CO, 4AstraZeneca, US Medical Affairs, Wilmington, DE, USA Background: No studies have addressed the cost of inpatient mortality during an acute coronary syndrome (ACS admission. Objective: Compare ACS-related length of stay (LOS, total admission cost, and total admission cost by day of discharge/death for patients who died during an inpatient admission with a matched cohort discharged alive following an ACS-related inpatient stay. Methods: Medical and pharmacy claims (2009–2012 were used to identify admissions with a primary diagnosis of ACS from patients with at least 6 months of continuous enrollment prior to an ACS admission. Patients who died during their ACS admission (deceased cohort were matched (one-to-one to those who survived (survived cohort on age, sex, year of admission, Chronic Condition Index score, and prior revascularization. Mean LOS, total admission cost, and total admission cost by the day of discharge/death for the deceased cohort were compared with the survived cohort. A generalized linear model with log transformation was used to estimate the differences in the total expected incremental cost of an ACS admission and by the day of discharge/death between cohorts. A negative binomial model was used to estimate differences in the LOS between the two cohorts. Costs were inflated to 2013 dollars. Results: A total of 1,320 ACS claims from patients who died (n=1,320 were identified and matched to 1,319 claims from the survived patients (n=1,319. The majority were men (68% and mean age was 56.7±6.4 years. The LOS per claim for the deceased cohort was

  4. Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for Long QT Syndrome

    NARCIS (Netherlands)

    Hendriks, Karin S. W. H.; Grosfeld, F. J. M.; van Tintelen, J. P.; van Langen, I. M.; Wilde, A. A. M.; van den Bout, J.; ten Kroode, H. F. J.

    2005-01-01

    Can a parent adjust to the idea that its child is at risk for a sudden death? This question is raised by a diagnostic procedure in which children were tested for an inherited Long QT Syndrome (LQTS). This potentially life-threatening but treatable cardiac arrhythmia syndrome may cause sudden death,

  5. Can parents adjust to the idea that their child is at risk for a sudden death? : Psychological impact of risk for Long QT Syndrome

    NARCIS (Netherlands)

    Hendriks, Karin S. W. H.; Grosfeld, FJM; van Tintelen, JP; van Langen, IM; Wilde, AAM; van den Bout, J; ten Kroode, HFJ

    2005-01-01

    Can a parent adjust to the idea that its child is at risk for a sudden death? This question is raised by a diagnostic procedure in which children were tested for an inherited Long QT Syndrome (LQTS). This potentially life-threatening but treatable cardiac arrhythmia syndrome may cause sudden death,

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

    Science.gov (United States)

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

    1991-04-01

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

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

    Science.gov (United States)

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

    2012-06-10

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

  8. Tunable smart digital structure (SDS) to modularly assemble soft actuators with layered adhesive bonding

    Science.gov (United States)

    Jin, Hu; Dong, Erbao; Xu, Min; Xia, Qirong; Liu, Shuai; Li, Weihua; Yang, Jie

    2018-01-01

    Many shape memory alloy (SMA)-based soft actuators have specific composite structures and manufacture processes, and are therefore unique. However, these exclusive characteristics limit their capabilities and applications, so in this article a soft and smart digital structure (SDS) is proposed that acts like a modular unit to assemble soft actuators by a layered adhesive bonding process. The SDS is a fully soft structure that encapsulates a digital skeleton consisting of four groups of parallel and independently actuated SMA wires capable of outputting a four-channel tunable force. The layered adhesive bonding process modularly bonds several SDSs with an elastic backbone to fabricate a layered soft actuator where the elastic backbone is used to recover the SDSs in a cooling process using the SMA wires. Two kinds of SDS-based soft actuators were modularly assembled, an actuator, SDS-I, with a two-dimensional reciprocal motion, and an actuator, SDS-II, capable of bi-directional reciprocal motion. The thermodynamics and phase transformation modeling of the SDS-based actuator were analyzed. Several extensional soft actuators were also assembled by bonding the SDS with an anomalous elastic backbone or modularly assembling the SDS-Is and SDS-IIs. These modularly assembled soft actuators delivered more output channels and a complicated motion, e.g., an actinomorphic soft actuator with four SDS-Is jumps in a series of hierarchical heights and directional movement by tuning the input channels of the SDSs. This result showed that the SDS can modularly assemble multifarious soft actuators with diverse capabilities, steerability and tunable outputs.

  9. BMI and BMI SDS in childhood: annual increments and conditional change

    OpenAIRE

    Brannsether-Ellingsen, Bente; Eide, Geir Egil; Roelants, Mathieu; Bjerknes, Robert; Juliusson, Petur Benedikt

    2016-01-01

    Background: Early detection of abnormal weight gain in childhood may be important for preventive purposes. It is still debated which annual changes in BMI should warrant attention. Aim: To analyse 1-year increments of Body Mass Index (BMI) and standardised BMI (BMI SDS) in childhood and explore conditional change in BMI SDS as an alternative method to evaluate 1-year changes in BMI. Subjects and methods: The distributions of 1-year increments of BMI (kg/m2) and BMI SDS are summarised by...

  10. Long-term survival and causes of death in patients with ST-elevation acute coronary syndrome without obstructive coronary artery disease

    DEFF Research Database (Denmark)

    Andersson, Hedvig Bille; Pedersen, Frants; Engstrøm, Thomas

    2018-01-01

    Aims: 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). Methods and results: We included 4793 consecutive patients with STE-ACS triaged for acute coronary angiography at a larg...... 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.......Aims: 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). Methods and results: We included 4793 consecutive patients with STE-ACS triaged for acute coronary angiography at a large...

  11. Evaluation of SDS depletion using an affinity spin column and IMS-MS detection

    Energy Technology Data Exchange (ETDEWEB)

    Hengel, Shawna M.; Floyd, Erica A.; Baker, Erin Shammel; Zhao, Rui; Wu, Si; Pasa-Tolic, Ljiljana

    2012-11-01

    While the use of detergents is necessary for a variety of protein isolation preparation protocols, often prior to mass spectral (MS) analysis, they are not compatible with MS analysis due to ion suppression and adduct formation. This manuscript describes optimization of detergent removal, using commercially available SDS depletion spin columns containing an affinity resin, providing for both increased protein recovery and thorough SDS removal. Ion mobility spectrometry coupled with mass spectrometry (IMS-MS) allowed for a concurrent analysis of both analyte and detergent. In the case of both proteins and peptides, higher detergent concentrations than previously reported provided an increase of sample recovery; however there was a limit as SDS was detected by IMS-MS at higher levels of SDS indicating incomplete detergent depletion. The results also suggest optimal conditions for SDS removal are dependent on the sample concentration. Overall, this study provides a useful guide for proteomic studies where SDS is required for efficient sample preparation.

  12. Role of atrial fibrillation and atrioventricular conduction (including Wolff-Parkinson-White Syndrome) in sudden death

    NARCIS (Netherlands)

    Meijler, F.L.; Tweel, I. van der; Herbschleb, J.N.; Hauer, R.N.W.; Robles de Medina, E.O.

    A short refractory period of the accessory pathway is considered a major threat for sudden death in patients with Wolff-Parkinson-White syndrome and atrial fibrillation. RR interval and QRS signal analysis together with signal analysis of a bipolar high right atrial electrogram were obtained in six

  13. Association between the physical stability of flurbiprofen suspension and the interaction of HPMC/SDS

    Directory of Open Access Journals (Sweden)

    Hongyu Wang

    2018-01-01

    Full Text Available The anionic surfactant sodium dodecylsulfate (SDS has improved the physical stability of flurbiprofen (FBP suspension, which was suspended by 0.2% (w/v hydroxypropylmethyl cellulose (HPMC, K4M. Therefore, the physical stability of FBP suspensions and the interaction of HPMC/SDS were studied, and a certain association between them was revealed. The anti-solvent precipitation method was used to prepare suspensions. The apparent drug concentration from different sites was evaluated to get the dispersion of drug actually. The process of flocculation and deflocculation with the addition of SDS was caught by analyzing the morphology of the suspended particles. The physical stability of the FBP suspensions was characterized mainly by measuring the re-dispersion time, the zeta potential and particle size. Meanwhile, conductivity measurements were carried out to obtain the characteristic concentrations of SDS in HPMC/SDS system. The viscosities, the abilities for improving the solubility and wettability of FBP in the separate and mixed HPMC/SDS solutions were also contrasted respectively. The suspensions prepared with HPMC/SDS possessed better physical stability. The suspensions were uniform when the concentration of SDS was between the critical adsorption concentration (CAC and the polymer saturation point (PSP. After PSP, the uniformity became worse and worse until the SDS was enough to form a deflocculation state. Besides, the re-dispersion time of FBP suspensions was longest when the concentration of SDS around CAC and shorter by shorter after the critical micelle concentration (CMC. The article provided a new sight on the relation between the interaction of excipient matrix and pharmaceutical preparations.

  14. Beyond the detergent effect: a binding site for sodium dodecyl sulfate (SDS) in mammalian apoferritin

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Renyu, E-mail: renyu.liu@uphs.upenn.edu; Bu, Weiming; Xi, Jin [University of Pennsylvania, Philadelphia, Pennsylvania (United States); Mortazavi, Shirin R. [Drexel University College of Medicine, Philadelphia, Pennsylvania (United States); Cheung-Lau, Jasmina C.; Dmochowski, Ivan J. [University of Pennsylvania, Philadelphia, Pennsylvania (United States); Loll, Patrick J., E-mail: renyu.liu@uphs.upenn.edu [Drexel University College of Medicine, Philadelphia, Pennsylvania (United States); University of Pennsylvania, Philadelphia, Pennsylvania (United States)

    2012-05-01

    Using X-ray crystallography and isothermal titration calorimetry, we show that sodium dodecyl sulfate (SDS) binds specifically to a pre-formed internal cavity in horse-spleen apoferritin. Although sodium dodecyl sulfate (SDS) is widely used as an anionic detergent, it can also exert specific pharmacological effects that are independent of the surfactant properties of the molecule. However, structural details of how proteins recognize SDS are scarce. Here, it is demonstrated that SDS binds specifically to a naturally occurring four-helix bundle protein: horse apoferritin. The X-ray crystal structure of the apoferritin–SDS complex was determined at a resolution of 1.9 Å and revealed that the SDS binds in an internal cavity that has previously been shown to recognize various general anesthetics. A dissociation constant of 24 ± 9 µM at 293 K was determined by isothermal titration calorimetry. SDS binds in this cavity by bending its alkyl tail into a horseshoe shape; the charged SDS head group lies in the opening of the cavity at the protein surface. This crystal structure provides insights into the protein–SDS interactions that give rise to binding and may prove useful in the design of novel SDS-like ligands for some proteins.

  15. The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

    DEFF Research Database (Denmark)

    Banner, Jytte; Gregersen, N; Kølvraa, S

    1993-01-01

    A number of rare inherited metabolic disorders are known to lead to death in infancy. Deficiency of medium-chain acyl CoA dehydrogenase has, on clinical grounds, been related particularly to sudden infant death syndrome. The contribution of this disorder to the etiology of sudden infant death...... syndrome is still a matter of controversy. The present study investigated 120 well-defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (G985) compared with the frequency...... in the general population. A highly specific polymerase chain reaction assay was applied on dried blood spots. No over-representation of homo- or heterozygosity for G985 appears to exist in such a strictly defined population, for which reason it may be more relevant to look at a broader spectrum of clinical...

  16. Leptomeningeal neurons are a common finding in infants and are increased in sudden infant death syndrome

    NARCIS (Netherlands)

    Rickert, Christian H.; Gross, Oliver; Nolte, Kay W.; Vennemann, Mechtild; Bajanowski, Thomas; Brinkmann, Bernd

    Developmental abnormalities of the brain, in particular, the brainstem potentially affecting centers for breathing, circulation and sleep regulation, are thought to be involved in the etiology of sudden infant death syndrome (SIDS). In order to investigate whether leptomeningeal neurons could serve

  17. Sampled data spectroscopy (SDS): A new technology for radiation instrumentation

    International Nuclear Information System (INIS)

    Odell, D.M.C.

    1992-01-01

    A new instrumentation architecture for radiation spectroscopy is in the early stages of development at Savannah River. Based upon the same digital sampling techniques used in sonar and radar, sampled data spectroscopy (SDS) has produced Na(I)/PMT spectra with resolution comparable to conventional PHA systems. This work has laid the foundation for extending SDS techniques to solid state detector applications as well. Two-dimensional SDS processes raw, unintegrated detector output pulses to produce both energy and shape information that is used to construct a conventional energy spectrum. System advantages include zero electronic deadtime to support very high count rates, elimination of pulse pile-up peaks, high noise immunity, and digital system stability and reliability. Small size and low power requirements make 2-D SDS anideal technology for portable instrumentation and remote monitoring applications. Applications of potential interest at Savannah River include on-the-spot spill analysis, real-time waste stream monitoring, and personnel and area monitoring below background levels. A three-dimensional sampled data architecture is also being developed. Relying on image analysis and enhancement techniques, 3-D SDS identifies spectral peaks without determining the energy of any individual detector pulses. These techniques also open up a new avenue of exploration for reducing or removing Compton effects from the spectra of single detector systems. The intended application for this technique is waste characterization where lower energy isotopes are often obscured by the Compton scattering from dominant isotopes such as Csl37

  18. The modes of death in mammals exposed to whole body radiation (acute radiation syndromes)

    International Nuclear Information System (INIS)

    Santos, O.R. dos.

    1990-07-01

    When an animal is exposed to a sufficient amount of radiation, there will be changes in many organs of the body, and as a result of either the effects in one particular organ or the interaction of effects in several organs, the animal as a whole will show characteristic syndromes. Some syndromes result inevitably in death. Others may or may not be lethal, depending on the extent of the tissue damage. The time of appearance of the syndromes, their duration, and the survival of the organism depend on many factors. Whole body acute doses of radiation produce the same spectrum of Central Nervous System (CNS), Gastrointestinal (GI) and Bone Marrow (BM) injury in man as was described for animals. Damage to the skin, ovary and testis are an integral and important part of the symptoms. (author) [pt

  19. Sudden cardiac death

    Directory of Open Access Journals (Sweden)

    Neeraj Parakh

    2015-01-01

    Full Text Available Sudden cardiac death is one of the most common cause of mortality worldwide. Despite significant advances in the medical science, there is little improvement in the sudden cardiac death related mortality. Coronary artery disease is the most common etiology behind sudden cardiac death, in the above 40 years population. Even in the apparently healthy population, there is a small percentage of patients dying from sudden cardiac death. Given the large denominator, this small percentage contributes to the largest burden of sudden cardiac death. Identification of this at risk group among the apparently healthy individual is a great challenge for the medical fraternity. This article looks into the causes and methods of preventing SCD and at some of the Indian data. Details of Brugada syndrome, Long QT syndrome, Genetics of SCD are discussed. Recent guidelines on many of these causes are summarised.

  20. Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease.

    Science.gov (United States)

    Veropalumbo, Claudio; Campanozzi, Angelo; De Gregorio, Fabiola; Correra, Antonio; Raia, Valeria; Vajro, Pietro

    2015-02-01

    Liver abnormalities that normalize during infancy as well an enteropathy are reported in Shwachman-Diamond syndrome (SDS). The pathogenesis of both conditions is unknown. We report two SDS cases with autoimmune-like (antismooth muscle and/or antinuclear antibody positivity) liver disease and antigliadin antibody positive inflammatory enteropathy. Hypertransaminasemia did not resolve after immunosuppressive therapy and/or a gluten-free diet. These transient autoimmune phenomena and gut-liver axis perturbations may have played a role in transient SDS hepatopathy and enteropathy. Our report may stimulate other studies to define the relationship between the SDS genetic defect and intestinal permeability as the pathogenic mechanism underlying SDS related liver and intestinal inflammation. Copyright © 2014. Published by Elsevier Masson SAS.

  1. Detection of Fusarium spp. and Trichoderma spp. and antagonism of Trichoderma sp. in soybean under no-tillage

    OpenAIRE

    Paola Mendes Milanesi; Elena Blume; Marlove Fátima Brião Muniz; Lia Rejane Silveira Reiniger; Zaida Inês Antoniolli; Emanuele Junges; Manoeli Lupatini

    2013-01-01

    This study aimed i) to quantify the occurrence of Fusarium spp. and Trichoderma spp. in rhizospheric soil, with and without symptoms of Sudden Death Syndrome (SDS) in eight soybean genotypes; ii) morphologically identify isolates of Fusarium spp. from roots with SDS; iii) evaluate the antagonism between Trichoderma spp. and Fusarium spp. isolates from rhizospheric soil and roots from with and without SDS, respectively; and iv) characterize through the ITS1-5.8S-ITS2 region of rDNA the isolate...

  2. Point Lepreau refurbishment project programmable digital comparator (PDC) replacement for SDS1 and SDS2

    International Nuclear Information System (INIS)

    Ichiyen, N.M.; Chan, D.; Thompson, P.D.

    2003-01-01

    NB Power is tentatively planning to conduct an 18-month maintenance outage of the Point Lepreau Generating Station (PLGS) starting in April 2007. The scope of the outage was determined from the outcome of a two year study (Phase 1) involving a detailed condition assessment of the station which examined issues relating to ageing and obsolescence, along with a detailed review of Safety and Licensing issues associated with extended operation. In order to minimize schedule and regulatory risk for the Refurbishment project, pre-project work was initiated in early 2002. This program is called Phase 2 ESA (Early Start Activities). As part of the Phase 1 assessments it was concluded that replacement of the PDCs (Programmable Digital Comparators) for both shutdown systems was required in order to ensure operation of the plant for a further 25-30 years. Critical tasks were identified related to PDC replacement as part of the Phase 2 ESA program. This paper describes the activities that have taken place in the Phase 2 ESA program as well as the plan for future work for the PDC replacement for SDS 1 (Shutdown System Number One) and SDS2 (Shutdown System Number Two). (author)

  3. Cardiac muscarinic receptor overexpression in sudden infant death syndrome.

    Directory of Open Access Journals (Sweden)

    Angelo Livolsi

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

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

    Science.gov (United States)

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

    1990-01-01

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

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

    Science.gov (United States)

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

    2016-04-01

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

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

    Science.gov (United States)

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

    2016-12-01

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

  7. Interactions of PAMAM dendrimers with SDS at the solid-liquid interface.

    Science.gov (United States)

    Arteta, Marianna Yanez; Eltes, Felix; Campbell, Richard A; Nylander, Tommy

    2013-05-14

    This work addresses structural and nonequilibrium effects of the interactions between well-defined cationic poly(amidoamine) PAMAM dendrimers of generations 4 and 8 and the anionic surfactant sodium dodecyl sulfate (SDS) at the hydrophilic silica-water interface. Neutron reflectometry and quartz crystal microbalance with dissipation monitoring were used to reveal the adsorption from premixed dendrimer/surfactant solutions as well as sequential addition of the surfactant to preadsorbed layers of dendrimers. PAMAM dendrimers of both generations adsorb to hydrophilic silica as a compact monolayer, and the adsorption is irreversible upon rinsing with salt solution. SDS adsorbs on the dendrimer layer and at low bulk concentrations causes the expansion of the dendrimer layers on the surface. When the bulk concentration of SDS is increased, the surfactant layer consists of aggregates or bilayer-like structures. The adsorption of surfactant is reversible upon rinsing, but slight changes of the structure of the preadsorbed PAMAM monolayer were observed. The adsorption from premixed solutions close to charge neutrality results in thick multilayers, but the surface excess is lower when the bulk complexes have a net negative charge. A critical examination of the pathway of adsorption for the interactions of SDS with preadsorbed PAMAM monolayers and premixed PAMAM/SDS solutions with hydrophilic silica revealed that nonequilibrium effects are important only in the latter case, and the application of a thermodynamic model to such experimental data would be inappropriate.

  8. Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype

    NARCIS (Netherlands)

    Booij, Jan; Reneman, Liesbeth; Alders, Marielle; Kuijpers, Taco W.

    2013-01-01

    Patients with Shwachman-Diamond syndrome (SDS) do not only experience well-described physical features like skeletal abnormalities and hematological dysfunctions, but recent studies also suggested attention and working memory deficits in SDS. Indeed, a recent structural magnetic resonance imaging

  9. Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction

    Science.gov (United States)

    Tulpule, Asmin; Kelley, James M.; Lensch, M. William; McPherson, Jade; Park, In Hyun; Hartung, Odelya; Nakamura, Tomoka; Schlaeger, Thorsten M.; Shimamura, Akiko; Daley, George Q.

    2013-01-01

    Summary Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematopoietic dysfunction, is caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. We created human pluripotent stem cell models of SDS by knock-down of SBDS in human embryonic stem cells (hESCs) and generation of induced pluripotent stem cell (iPSC) lines from two SDS patients. SBDS-deficient hESCs and iPSCs manifest deficits in exocrine pancreatic and hematopoietic differentiation in vitro, enhanced apoptosis and elevated protease levels in culture supernatants, which could be reversed by restoring SBDS protein expression through transgene rescue or by supplementing culture media with protease inhibitors. Protease-mediated auto-digestion provides a mechanistic link between the pancreatic and hematopoietic phenotypes in SDS, highlighting the utility of hESCs and iPSCs in obtaining novel insights into human disease. PMID:23602541

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

    Science.gov (United States)

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

    2017-06-01

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

  11. Screening of SDS-degrading bacteria from car wash wastewater and study of the alkylsulfatase enzyme activity.

    Science.gov (United States)

    Shahbazi, Razieh; Kasra-Kermanshahi, Roha; Gharavi, Sara; Moosavi-Nejad, Zahra; Borzooee, Faezeh

    2013-06-01

    Sodium dodecyl sulfate (SDS) is one of the main surfactant components in detergents and cosmetics, used in high amounts as a detergent in products such as shampoos, car wash soap and toothpaste. Therefore, its bioremediation by suitable microorganisms is important. Alkylsulfatase is an enzyme that hydrolyses sulfate -ester bonds to give inorganic sulfate and alcohol. The purpose of this study was to isolate SDS-degrading bacteria from Tehran city car wash wastewater, study bacterial alkylsulfatase enzyme activity and identify the alkylsulfatase enzyme coding gene. Screening of SDS-degrading bacteria was carried out on basal salt medium containing SDS as the sole source of carbon. Amount of SDS degraded was assayed by methylene blue active substance (MBAS). Identification of the sdsA gene was carried by PCR and subsequent sequencing of the 16S rDNA gene and biochemical tests identified Pseudomonas aeruginosa. This bacterium is able to degrade 84% of SDS after four days incubation. Bacteria isolated from car wash wastewater were shown to carry the sdsA gene (670bp) and the alkylsulfatase enzyme specific activity expressed from this gene was determined to be 24.3 unit/mg. The results presented in this research indicate that Pseudomonas aeruginosa is a suitable candidate for SDS biodegradation.

  12. Childhood obesity treatment; Effects on BMI SDS, body composition, and fasting plasma lipid concentrations.

    Directory of Open Access Journals (Sweden)

    Tenna Ruest Haarmark Nielsen

    Full Text Available The body mass index (BMI standard deviation score (SDS may not adequately reflect changes in fat mass during childhood obesity treatment. This study aimed to investigate associations between BMI SDS, body composition, and fasting plasma lipid concentrations at baseline and during childhood obesity treatment.876 children and adolescents (498 girls with overweight/obesity, median age 11.2 years (range 1.6-21.7, and median BMI SDS 2.8 (range 1.3-5.7 were enrolled in a multidisciplinary outpatient treatment program and followed for a median of 1.8 years (range 0.4-7.4. Height and weight, body composition measured by dual-energy X-ray absorptiometry, and fasting plasma lipid concentrations were assessed at baseline and at follow-up. Lipid concentrations (total cholesterol (TC, low-density lipoprotein (LDL, high-density lipoprotein (HDL, non-HDL, and triglycerides (TG were available in 469 individuals (264 girls. Linear regressions were performed to investigate the associations between BMI SDS, body composition indices, and lipid concentrations.At baseline, BMI SDS was negatively associated with concentrations of HDL (p = 6.7*10-4 and positively with TG (p = 9.7*10-6. Reductions in BMI SDS were associated with reductions in total body fat percentage (p<2*10-16 and percent truncal body fat (p<2*10-16. Furthermore, reductions in BMI SDS were associated with improvements in concentrations of TC, LDL, HDL, non-HDL, LDL/HDL-ratio, and TG (all p <0.0001. Changes in body fat percentage seemed to mediate the changes in plasma concentrations of TC, LDL, and non-HDL, but could not alone explain the changes in HDL, LDL/HDL-ratio or TG. Among 81 individuals with available lipid concentrations, who increased their BMI SDS, 61% improved their body composition, and 80% improved their lipid concentrations.Reductions in the degree of obesity during multidisciplinary childhood obesity treatment are accompanied by improvements in body composition and fasting plasma

  13. Symptoms Before Sudden Arrhythmic Death Syndrome: A Nationwide Study Among the Young in Denmark.

    Science.gov (United States)

    Glinge, Charlotte; Jabbari, Reza; Risgaard, Bjarke; Lynge, Thomas Hadberg; Engstrøm, Thomas; Albert, Christine M; Haunsø, Stig; Winkel, Bo Gregers; Tfelt-Hansen, Jacob

    2015-07-01

    No studies in an unselected and nationwide setting have characterized the symptoms and medical history of patients with sudden arrhythmic death syndrome (SADS). The aim of this study was to identify and describe the symptoms and medical history of patients before the presentation of SADS. We have previously identified all of the autopsied sudden cardiac deaths (SCD; n = 314) in Danes aged 1-35 years between 2000 and 2006. After comprehensive pathological and toxicological investigation did not reveal a cause of SCD, 136 of the patients were identified as SADS. The National Patient Registry was utilized to obtain information on all in- and outpatient activity in Danish hospitals. All medical records from hospitals and general practitioners, including death certificates and autopsy reports were reviewed. Before death, 48 (35%) SADS patients had cardiac symptoms; among these, 30 (22%) had contacted the healthcare system. Antecedent symptoms (symptoms >24 hours before death) were present in 34 (25%) patients. Prodromal symptoms (symptoms ≤24 hours before death) were present in 23 (17%) patients. Cardiac symptoms included chest pain (n = 16, 12%), dyspnea (n = 18, 13%), palpitations (n = 2, 1%), presyncope/syncope (n = 23, 17%), and aborted SCD (n = 2, 1%). In addition, seizures (n = 25, 18%) were prevalent. In 61 (45%) SADS cases, no previous medical history were recorded. In this unselected, nationwide study of 136 young SADS patients, 35% had experienced cardiac symptoms before death, most commonly presyncope/syncope, but only one out of five had contacted a healthcare provider with cardiac symptoms. © 2015 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2011-05-01

    Obesity and metabolic syndrome are important risk factors for cardiovascular diseases. In this study, the influence of migration background and parental education on the degree of obesity and the presence of the metabolic syndrome (MS) in children and adolescents (N=492) requiring sociopediatric care were investigated. Two regression models were computed with the dependent variables BMI-SDS and MS, respectively. Age, gender, migration background, and parental education were used as independent variables. When controlling for age and gender, higher BMI-SDS were found among Turkish patients (β=0.21; p=0.002) and patients with other migration backgrounds (β=0.11; p=0.085) compared to German patients. The BMI-SDS values were also higher among patients from families with a low parental education level compared to those with a higher education level (β=0.31; peducation, when controlling for age, gender, and BMI-SDS. Obesity therapy should be increasingly tailored to the needs of identified risk groups. This will also allow for a targeted prevention of comorbidities.

  15. Childhood obesity treatment; Effects on BMI SDS, body composition, and fasting plasma lipid concentrations.

    Science.gov (United States)

    Nielsen, Tenna Ruest Haarmark; Fonvig, Cilius Esmann; Dahl, Maria; Mollerup, Pernille Maria; Lausten-Thomsen, Ulrik; Pedersen, Oluf; Hansen, Torben; Holm, Jens-Christian

    2018-01-01

    The body mass index (BMI) standard deviation score (SDS) may not adequately reflect changes in fat mass during childhood obesity treatment. This study aimed to investigate associations between BMI SDS, body composition, and fasting plasma lipid concentrations at baseline and during childhood obesity treatment. 876 children and adolescents (498 girls) with overweight/obesity, median age 11.2 years (range 1.6-21.7), and median BMI SDS 2.8 (range 1.3-5.7) were enrolled in a multidisciplinary outpatient treatment program and followed for a median of 1.8 years (range 0.4-7.4). Height and weight, body composition measured by dual-energy X-ray absorptiometry, and fasting plasma lipid concentrations were assessed at baseline and at follow-up. Lipid concentrations (total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL), non-HDL, and triglycerides (TG)) were available in 469 individuals (264 girls). Linear regressions were performed to investigate the associations between BMI SDS, body composition indices, and lipid concentrations. At baseline, BMI SDS was negatively associated with concentrations of HDL (p = 6.7*10-4) and positively with TG (p = 9.7*10-6). Reductions in BMI SDS were associated with reductions in total body fat percentage (pobesity during multidisciplinary childhood obesity treatment are accompanied by improvements in body composition and fasting plasma lipid concentrations. Even in individuals increasing their BMI SDS, body composition and lipid concentrations may improve.

  16. Sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS ...

    African Journals Online (AJOL)

    Four strains of eri, Samia cynthia ricini Lepidoptera: Saturniidae that can be identified morphologically and maintained at North East Institute of Science and Technology, Jorhat were characterized based on their protein profile by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and DNA by random ...

  17. SDS-PEG软模板法制备纳米硒球%Synthesis of Selenium Nanospheres Using SDS-PEG Cluster as Soft Template

    Institute of Scientific and Technical Information of China (English)

    牛牧野; 方云; 顾文英

    2011-01-01

    Selenium nanospheres were prepared from selenious acid reduced by hydrazine hydrate in the soft template composed of sodium dodecyl sulfate (SDS)-polyethylene glycol (PEG) cluster in aqueous solution. The XRD pattern suggests that the red product is amorphous Se. The DSC thermogram of the as-synthesized selenium nanospheres shows a melting peak at 221 ℃. The concentration of SDS has an influence on the size of selenium nanospheres. The TEM images show that the average diameter of the reduced products increases from 35 nm to 85 nm with increase in the concentration of SDS. The UV-Vis spectrums show that the absorption becomes both stronger and red-shifted when average diameter of selenium nanospheres is increased.%以十二烷基硫酸钠(SDS)-聚乙二醇(PEG)组成的项链状软物质团簇为可调控性模板,在水溶液中采用水合肼(N2H4·H2O)还原亚硒酸(H2SeO3)制备纳米硒球.XRD结果表明,所得红色还原产物为无定形的纳米硒球;DSC测得产物纳米硒球的熔融温度为221 ℃.在一定范围内改变SDS浓度,可以影响制备得到纳米硒球的粒径,TEM结果显示,增加SDS浓度可以使体系中产物的平均粒径由35 nm增大到85 nm;UV-Vis光谱显示,吸收强度随着还原产物平均粒径增大而下降,同时伴随着一定程度的红移.

  18. The importance of a forensics investigation of sudden infant death syndrome: recommendations for developing, low and middle income countries

    Directory of Open Access Journals (Sweden)

    Steven A. Koehler

    2010-11-01

    Full Text Available Sudden infant deaths syndrome (SIDS, the sudden and unexpected death of a normal and healthy infant, has remained a medical and forensic mystery. Despite years of research all attempts to ascertain the exact cause and manner of death have failed. The information collected during the course of the comprehensive investigation by the various investigation agencies and analysis of the data has not been in vain. The epidemiological, demographic, and pathological data have identified distinctive features and risk factors associated with infants that died from SIDS. Epidemiological data has provided the unique characteristics of infants that died of SIDS that differentiates them from non-SIDS infants. Analysis of information from the death scene investigation has identified key risk factor behaviour associated with SIDS, namely the prone sleeping position. Pathological examination of the internal organs, specifically the brain, has shown some differences between SIDS and non-SIDS infants. However, to gain a complete picture of SIDS data, all countries around the world must provide information, even basic information, to understand this syndrome better. Developing countries must understand their role and importance in developing plans to investigate, collect, and disseminate SIDS data to the rest of the world. This paper provides general guidelines for the investigation of SIDS in developing countries.

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

    OpenAIRE

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

    2017-01-01

    Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, a...

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

    Science.gov (United States)

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

    2015-03-01

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

  1. Medium dependent dual turn on/turn off fluorescence sensing for Cu2 + ions using AMI/SDS assemblies

    Science.gov (United States)

    Gujar, Varsha B.; Ottoor, Divya

    2017-02-01

    Behavior of Amiloride (AMI) as a metal ion sensor in anionic surfactant assemblies of varying concentrations at different pH is depicted in this work. From a non-sensor fluorophore, AMI has been transformed in to a tunable fluorosensor for Cu2 + ions in various SDS concentrations. At premicellar concentration of SDS, ion-pair complex is expected to be formed between AMI and SDS due to electrostatic interactions between them. However at CMC concentrations of SDS, fluorescence intensity of AMI is greatly enhanced with red shift in emission, due to the incorporation of AMI molecule in the hydrophobic micellar interface. The behavior of metal sensing by AMI-SDS assemblies gives rise to several interesting observations. Micellation of SDS has been greatly enhanced by increasing copper ion concentrations, as these counter ions screens the charge on monomers of SDS which lead to the aggregation at premicellar concentrations only. Concentrations and pH dependent discrete trends of interactions between SDS-AMI and SDS-Cu2 + ions, have given tunable fluorescence responses (fluorescence turn on/turn off) of AMI for added Cu2 + ions. The electrostatic interaction between the metal cations and the anionic surfactants is the driving force for bringing the metal ions near to the vicinity of micelle where AMI resides. Thus, a comprehensive understanding of the mechanism related to the 'turn on-turn off' fluorescence response of AMI with respect to pH and SDS concentration for effective Cu2 + ion sensing is illustrated in this work.

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

    Science.gov (United States)

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

    2014-01-01

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

  3. The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence.

    Science.gov (United States)

    Noonan, Jacqueline A; Kappelgaard, Anne-Marie

    2015-01-01

    Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS), with first-year changes of up to 1.26 SDS. Among studies reporting adult or near-adult height, GH therapy over 5-7 years resulted in adult height SDS from -0.6 to -2.1, with up to 60% of subjects in some studies achieving adult height within 1 SDS of mid-parental height. GH treatment results in an acceleration of bone age, likely reflecting normalization from the retarded bone age common in Noonan syndrome patients at the start of therapy. BMI is not affected by GH treatment, but favorable changes in fat mass and body composition are achievable. Longer-term studies and observational studies suggest a waning of the effect of GH therapy over time, as is seen in other GH-treated conditions, and early initiation of therapy and prepubertal status are important predictors of response. GH treatment does not appear to be associated with adverse cardiac or metabolic effects, and data on malignancy during GH treatment give no cause for concern, although they are limited. © 2014 S. Karger AG, Basel.

  4. Application and Mechanism of Anionic Collector Sodium Dodecyl Sulfate (SDS in Phosphate Beneficiation

    Directory of Open Access Journals (Sweden)

    Kun Sun

    2017-02-01

    Full Text Available Phosphate ore is a valuable strategic resource. Most phosphate ore in China is collophane. Utilization of mid-low grade collophane is necessary to maintain social sustainable development. The gravity-flotation combination separation process can be utilized to separate mid-low grade collophane, but the process consumes a large quantity of acid in the reverse stage. Sodium dodecyl sulfate (SDS was used as a dolomite collector in this study to reduce the acid consumption of collophane flotation. SDS effectively removed dolomite from the gravity concentrate when no other reagents were present. Flotation test results showed that, compared to the conventional gravity-flotation process, the proposed SDS-based process reduced phosphoric acid dosage from 6.1 kg/t to 3.9 kg/t with similar separation results. The SDS action mechanisms on dolomite were further investigated by zeta potential analysis, single mineral flotation tests, infrared spectrum detection, and theoretical analysis. The results indicate that the SDS adsorption on dolomite is mainly physical adsorption, and that favorable separation effects between collophane and dolomite may be attributed to physical adsorption and entrainment. In addition, it also indicates that the physical adsorption can be utilized to remove dolomite from phosphate on account of zeta potential differences when the separate feed is coarse.

  5. The predictive power of SIMION/SDS simulation software for modeling ion mobility spectrometry instruments

    Science.gov (United States)

    Lai, Hanh; McJunkin, Timothy R.; Miller, Carla J.; Scott, Jill R.; Almirall, José R.

    2008-09-01

    The combined use of SIMION 7.0 and the statistical diffusion simulation (SDS) user program in conjunction with SolidWorks® with COSMSOSFloWorks® fluid dynamics software to model a complete, commercial ion mobility spectrometer (IMS) was demonstrated for the first time and compared to experimental results for tests using compounds of immediate interest in the security industry (e.g., 2,4,6-trinitrotoluene, 2,7-dinitrofluorene, and cocaine). The effort of this research was to evaluate the predictive power of SIMION/SDS for application to IMS instruments. The simulation was evaluated against experimental results in three studies: (1) a drift:carrier gas flow rates study assesses the ability of SIMION/SDS to correctly predict the ion drift times; (2) a drift gas composition study evaluates the accuracy in predicting the resolution; (3) a gate width study compares the simulated peak shape and peak intensity with the experimental values. SIMION/SDS successfully predicted the correct drift time, intensity, and resolution trends for the operating parameters studied. Despite the need for estimations and assumptions in the construction of the simulated instrument, SIMION/SDS was able to predict the resolution between two ion species in air within 3% accuracy. The preliminary success of IMS simulations using SIMION/SDS software holds great promise for the design of future instruments with enhanced performance.

  6. Defective ribosome assembly in Shwachman-Diamond syndrome.

    Science.gov (United States)

    Wong, Chi C; Traynor, David; Basse, Nicolas; Kay, Robert R; Warren, Alan J

    2011-10-20

    Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved SBDS gene. Here, we test the hypothesis that defective ribosome biogenesis underlies the pathogenesis of SDS. We create conditional mutants in the essential SBDS ortholog of the ancient eukaryote Dictyostelium discoideum using temperature-sensitive, self-splicing inteins, showing that mutant cells fail to grow at the restrictive temperature because ribosomal subunit joining is markedly impaired. Remarkably, wild type human SBDS complements the growth and ribosome assembly defects in mutant Dictyostelium cells, but disease-associated human SBDS variants are defective. SBDS directly interacts with the GTPase elongation factor-like 1 (EFL1) on nascent 60S subunits in vivo and together they catalyze eviction of the ribosome antiassociation factor eukaryotic initiation factor 6 (eIF6), a prerequisite for the translational activation of ribosomes. Importantly, lymphoblasts from SDS patients harbor a striking defect in ribosomal subunit joining whose magnitude is inversely proportional to the level of SBDS protein. These findings in Dictyostelium and SDS patient cells provide compelling support for the hypothesis that SDS is a ribosomopathy caused by corruption of an essential cytoplasmic step in 60S subunit maturation.

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

    OpenAIRE

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

    2016-01-01

    Programmed death-ligand 1 (PD-L1) down-modulates various immune responses by engaging the co-inhibitory receptor programmed death-1. Expression of PD-L1 and programmed death-1 is elevated in the salivary glands of patients with Sj?gren?s syndrome (SS). The objective of this study is to define the role of endogenous PD-L1 in SS pathogenesis in non-obese diabetic (NOD) mouse model of this disease. We inhibited endogenous PD-L1 function by intraperitoneal administration of a blocking antibody to...

  8. Thermal fatigue and creep evaluation for the bed in tritium SDS

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Woo-seok, E-mail: wschoi@kaeri.re.kr [Korea Atomic Energy Research Institute, Yuseong, Daejeon (Korea, Republic of); Park, Chang-gyu [Korea Atomic Energy Research Institute, Yuseong, Daejeon (Korea, Republic of); Ju, Yong-sun [KOASIS, Yuseong, Daejeon (Korea, Republic of); Kang, Hyun-goo; Jang, Min-ho; Yun, Sei-hun [National Fusion Research Institute, Yuseong, Daejeon (Korea, Republic of)

    2016-11-01

    Highlights: • To evaluate the integrity of the ITER tritium SDS bed, three kinds of assessments were conducted. • The structural analysis showed that the stress induced from the thermal load and the internal pressure is within the design stress intensity. • The combined fatigue and creep assessment was also performed according to the procedure of ASME code Subsection NH. • A new operation procedure to obtain more integrity margin was recommended. • The other operation procedure could be considered which makes the rapid operation possible giving up the marginal integrity. - Abstract: The primary vessel of ITER tritium SDS bed is made of stainless steel. It is heated beyond 500 °C to desorb tritium. During this process the primary vessel is subject to thermal stress. And it is also subject to thermal fatigue by the iterative process of absorption and desorption. In addition, its operation temperature range is in the thermal creep temperature region. Therefore, the tritium SDS bed should have sufficient design stress intensity under the high temperature operating conditions. It should also be free of damage due to fatigue during the design life. Thermal analysis and structural analysis was performed using a finite element method to calculate the temperature and the stress distribution of the ITER tritium SDS bed due to the internal pressure and thermal loads. The thermal fatigue and creep effects were also evaluated since the tritium SDS bed was heated to hot temperature region where creep occurs. Based on the distribution of the primary stress and secondary stress results, two evaluation cross-sections were selected. The evaluation showed that the calculated value on the cross-sections satisfied all of the limits of the design code requirements.

  9. The Role of Decorated SDS Micelles in Sub-CMC Protein Denaturation and Association

    DEFF Research Database (Denmark)

    Andersen, Kell; Oliveira, Cristiano Luis Pinto De; Larsen, Kim Lambertsen

    2009-01-01

    structures. SAXS data show that, at this stage, a decorated micelle links two ACBP molecules together, leaving about half of the polypeptide chain as a disordered region protruding into the solvent. Further titration with SDS leads to the additional uptake of 26 SDS molecules, which, according to SAXS, forms...

  10. Vitrification of highly-loaded SDS zeolites

    International Nuclear Information System (INIS)

    Siemens, D.H.; Bryan, G.H.; Knowlton, D.E.; Knox, C.A.

    1982-11-01

    Pacific Northwest Laboratory (PNL) is demonstrating a vitrification system designed for immobilization of highly loaded SDS zeolites. The Zeolite Vitrification Demonstration Project (ZVDP) utilizes an in-can melting process. All steps of the process have been demonstrated, from receipt of the liners through characterization of the vitrified product. The system has been tested with both nonradioactive and radioactive zeolite material. Additional high-radioactivity demonstrations are scheduled to begin in FY-83. 5 figures, 4 tables

  11. Cuantificacion de huevo en fideos secos según metodo electroforético (SDS PAGUE) Quantification of egg in dried noodles by electrophoretic methods (SDS PAGE)

    OpenAIRE

    LB López; K Cellerino; MJ Binaghi; MS Giacomino; ME Valencia

    2011-01-01

    La cuantificación de huevo en fideos secos elaborados con harina y agregado de huevo. Se analizaron 6 sistemas modelos (SM) de fideos que contenían 0,0; 1,0; 2,5; 4,0; 6,0 y 8,0% de huevo en polvo. Se extrajeron proteínas totales con un buffer que contiene dodecilsulfato de sodio (SDS) y 2-Mercaptoetanol y se realizó electroforesis en gel de poliacrilamida con SDS. Se establecieron las relaciones de las áreas de los picos de los densitogramas (de huevo y de trigo) que permiten una correcta cu...

  12. Childhood obesity treatment; Effects on BMI SDS, body composition, and fasting plasma lipid concentrations

    DEFF Research Database (Denmark)

    Nielsen, Tenna Ruest Haarmark; Fonvig, Cilius Esmann; Dahl, Maria

    2018-01-01

    Objective The body mass index (BMI) standard deviation score (SDS) may not adequately reflect changes in fat mass during childhood obesity treatment. This study aimed to investigate associations between BMI SDS, body composition, and fasting plasma lipid concentrations at baseline and during......, and 80% improved their lipid concentrations. Conclusion Reductions in the degree of obesity during multidisciplinary childhood obesity treatment are accompanied by improvements in body composition and fasting plasma lipid concentrations. Even in individuals increasing their BMI SDS, body composition...... childhood obesity treatment. Methods 876 children and adolescents (498 girls) with overweight/obesity, median age 11.2 years (range 1.6±21.7), and median BMI SDS 2.8 (range 1.3±5.7) were enrolled in a multidisciplinary outpatient treatment program and followed for a median of 1.8 years (range 0...

  13. Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome.

    LENUS (Irish Health Repository)

    McGorrian, Catherine

    2013-02-03

    AIMS: Sudden arrhythmic death syndrome (SADS) occurs when a person suffers a sudden, unexpected death, with no cause found at postmortem examination. We aimed to describe the cardiac screening outcomes in a population of relatives of SADS victimsMETHODS AND RESULTS: Prospective and retrospective cohort study of consecutive families attending the Family Heart Screening clinic at the Mater Misericordiae Hospital in Dublin, Ireland, from January 2007 to September 2011. Family members of SADS victims underwent a standard screening protocol. Adjunct clinical and postmortem information was sought on the proband. Families who had an existing diagnosis, or where the proband had epilepsy, were excluded. Of 115 families identified, 73 were found to fit inclusion criteria and were retained for analysis, with data available on 262 relatives. Over half of the screened family members were female, and the mean age was 38.6 years (standard deviation 15.6). In 22 of 73 families (30%), and 36 of 262 family members (13.7%), a potentially inheritable cause of SADS was detected. Of the population screened, 32 patients (12.2%) were treated with medication, and 5 (1.9%) have received implantable cardiac defibrillators. Of the five families with long QT syndrome (LQTS) who had a pathogenic gene mutation identified, three carried two such mutations.CONCLUSION: In keeping with international estimates, 30% of families of SADS victims were found to have a potentially inherited cardiac disease. The most common positive finding was LQTS. Advances in postmortem standards and genetic studies may assist in achieving more diagnoses in these families.

  14. Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

    Science.gov (United States)

    Coulibaly, Béma; Sigaudy, Sabine; Girard, Nadine; Popovici, Cornel; Missirian, Chantal; Heckenroth, Hélène; Tasei, Anne-Marie; Fernandez, Carla

    2010-01-01

    Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffine-Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

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

    Science.gov (United States)

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

    2017-10-01

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

  16. Sodium Dodecyl Sulfate (SDS)-Loaded Nanoporous Polymer as Anti-Biofilm Surface Coating Material

    DEFF Research Database (Denmark)

    Li, Li; Molin, Søren; Yang, Liang

    2013-01-01

    -b-polydimethylsiloxane (1,2-PB-b-PDMS) block copolymer via chemical cross-linking of the 1,2-PB block followed by quantitative removal of the PDMS block. Sodium dodecyl sulfate (SDS) was loaded into the nanoporous 1,2-PB from aqueous solution. The SDS-loaded nanoporous polymer films were shown to block bacterial attachment...

  17. Chlamydia and sudden infant death syndrome. A study of 166 SIDS and 30 control cases

    DEFF Research Database (Denmark)

    Banner, Jytte; Lundemose, A G; Gregersen, M

    1990-01-01

    .04). Chlamydia trachomatis is an agent of pneumonia in 1-4 month-old infants who have acquired the disease from an infected cervix during birth, but other chlamydia species are also capable of causing pneumonia. The lung sections of the 32 chlamydia positive SIDS cases did not show typical histological signs......Chlamydia inclusions could be demonstrated by an immunofluorescence assay in formalin-fixed lung sections in 32 of 166 cases (19.4%) of Sudden Infant Death Syndrome (SIDS) and in the lungs of only 1 of 30 infants with a known cause of death (3.3%). The difference is statistically significant (P = 0...... of pneumonia. Even though chlamydia inclusions were detected in the lungs of 32 SIDS cases a causal relation between chlamydia infection and SIDS could not be demonstrated....

  18. Current state of the problem sudden infant death at home

    OpenAIRE

    Berlay Margarita Vasilievna; Kopylov Anatoliy Vasilievich; Karpov Sergey Mikhailovich

    2017-01-01

    The “Sudden Infant Death Syndrome” stands for unexpected nonviolent death of apparently healthy chest age child when there is no history or pathomorphological features which can be adequate explanations for death reasons. In Russian Federation, the death rate from this syndrome in the range of 0,06 to 2,8 per 1000 live births. In Stavropol region, average figures are equal to 0,36 per 1000 live births in the period of 2005–2014. Rates of incidence sudden infant death syndrome are similar to t...

  19. Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome.

    Science.gov (United States)

    Stormon, Michael O; Ip, Wan F; Ellis, Lynda; Schibli, Susanne; Rommens, Johanna M; Durie, Peter R

    2010-07-01

    : Because the acinar cells of the exocrine pancreas in patients with Shwachman-Diamond syndrome (SDS) are severely depleted, we hypothesized that a similar deficiency may be present in acinar cells of the parotid gland. : We determined serum pancreatic isoamylase and parotid amylase activities in 16 patients with SDS, 13 healthy controls, and 13 disease controls (cystic fibrosis or fibrosing pancreatitis). Parotid amylase and electrolyte concentrations were measured in stimulated parotid gland secretions. Starch digestion was assessed by breath hydrogen testing in patients with SDS (with and without enzyme supplements) and healthy controls. : Serum pancreatic and parotid isoamylase values were lower in the patients with SDS than in the healthy controls (P gland amylase concentration (units per milligram of protein) in patients with SDS was lower than that in the healthy controls (P = 0.04), whereas the disease controls were comparable to the healthy subjects (P = 0.09). Secreted parotid chloride concentration was inversely correlated with amylase concentration in the patients with SDS (P = 0.01), but no correlation was seen in the healthy controls or disease controls. When patients with SDS ingested starch without enzyme supplementation, their breath hydrogen excretion was significantly higher than that in the healthy controls (P = 0.009). Following starch ingestion with enzymes, breath hydrogen in the patients with SDS was lower (P functional abnormality of exocrine acinar cells.

  20. Preparative SDS PAGE as an Alternative to His-Tag Purification of Recombinant Amelogenin

    Directory of Open Access Journals (Sweden)

    Claire M. Gabe

    2017-06-01

    Full Text Available Recombinant protein technology provides an invaluable source of proteins for use in structure-function studies, as immunogens, and in the development of therapeutics. Recombinant proteins are typically engineered with “tags” that allow the protein to be purified from crude host cell extracts using affinity based chromatography techniques. Amelogenin is the principal component of the developing enamel matrix and a frequent focus for biomineralization researchers. Several groups have reported the successful production of recombinant amelogenins but the production of recombinant amelogenin free of any tags, and at single band purity on silver stained SDS PAGE is technically challenging. This is important, as rigorous structure-function research frequently demands a high degree of protein purity and fidelity of protein sequence. Our aim was to generate His-tagged recombinant amelogenin at single band purity on silver stained SDS PAGE for use in functionality studies after His-tag cleavage. An acetic acid extraction technique (previously reported to produce recombinant amelogenin at 95% purity directly from E. coli followed by repeated rounds of nickel column affinity chromatography, failed to generate recombinant amelogenin at single band purity. This was because following an initial round of nickel column affinity chromatography, subsequent cleavage of the His-tag was not 100% efficient. A second round of nickel column affinity chromatography, used in attempts to separate the cleaved His-tag free recombinant from uncleaved His-tagged contaminants, was still unsatisfactory as cleaved recombinant amelogenin exhibited significant affinity for the nickel column. To solve this problem, we used preparative SDS PAGE to successfully purify cleaved recombinant amelogenins to single band purity on silver stained SDS PAGE. The resolving power of preparative SDS PAGE was such that His-tag based purification of recombinant amelogenin becomes redundant. We

  1. Modification of T-cell antigenic properties of tetanus toxoid by SDS-PAGE separation. Implications for T-cell blotting

    DEFF Research Database (Denmark)

    Christensen, C B; Theander, T G

    1997-01-01

    Using Tetanus Toxoid (TT) as a model antigen the T-cell Blotting method was evaluated. Peripheral blood mononuclear cell (PBMC) cultures were stimulated by blotted nitrocellulose-bound TT or soluble TT. SDS-Poly-Acrylamide-Gel-Electrophoresis separated TT only induced proliferation in 20% of the ......Using Tetanus Toxoid (TT) as a model antigen the T-cell Blotting method was evaluated. Peripheral blood mononuclear cell (PBMC) cultures were stimulated by blotted nitrocellulose-bound TT or soluble TT. SDS-Poly-Acrylamide-Gel-Electrophoresis separated TT only induced proliferation in 20......% of the PBMC cultures whereas proliferation was induced in 79% of the same cultures offered similar treated TT (except for the PAGE separation). When T-cell blotting was performed with TT separated in a SDS-agarose matrix, proliferation was induced in 80% of donors responding to soluble TT. The results show...... that SDS-PAGE alters the ability of TT to induce T-cell proliferation, possibly due to unpolymerized acrylamide binding to proteins during SDS-PAGE. The use of SDS-PAGE T-cell blotting in the screening for T-cell antigens must therefore be reconsidered. We suggest the use of SDS-Agarose Gel Electrophoresis...

  2. Deaths: Leading Causes for 2012.

    Science.gov (United States)

    Heron, Melonie

    2015-08-31

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

  3. Effect of hyperbaric oxygen therapy on SAS and SDS in children with ischemic encephalopathy

    Directory of Open Access Journals (Sweden)

    Pei-Yun Li

    2017-08-01

    Full Text Available Objective: To study and analyze the effect of early psychological intervention on the scores of SAS and SDS in children with hypoxic-ischemic encephalopathy undergoing hyperbaric oxygen therapy. Methods: A total of 64 children with hypoxic - ischemic encephalopathy enrolled in our hospital from July 2015 to July 2016 and their parents were selected as study subjects. The patients were treated with hyperbaric oxygen therapy, while their parents were given early psychological intervention. By the way of increasing parents’ awareness of the disease, helping parents build confidence in their children’s treatment and encouraging them to participate in daily training for their children to relieve their anxiety and depression. The parents' knowledge of the disease before and during treatment, the treatment of hyperbaric oxygen therapy and the change of SAS and SDS were observed. Results: After effective intervention, the scores of SAS and SDS of 64 patients’ parents were significantly lower than those before treatment. After 1 courses of intervention, the score of SAS was (43.36 ± 1.27 points, and the score of SDS was (45.22 ± 8.13 points. After 2 courses of intervention, the score of SAS was (41.07 ± 1.21 and the score of SDS was (42.35 ± 7.44 points, and parents' awareness of hypoxic-ischemic encephalopathy was significantly increased, and the differences between the two groups were statistically significant. Conclusion: Early psychological intervention on parents of children with hypoxic-ischemic encephalopathy can effectively improve the awareness of parents on the disease, so as to improve their acceptance of hyperbaric oxygen therapy; significantly reduce the parents’ SAS, SDS score. It is beneficial to build a good doctor-patient and nurse-patient relationship, improve the treatment effect and shorten the treatment time.

  4. Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome.

    Science.gov (United States)

    Hui, Hamilton N T; Metherell, Louise A; Ng, K L; Savage, Martin O; Camacho-Hübner, Cecilia; Clark, Adrian J L

    2005-02-01

    Laron syndrome, growth hormone (GH) insensitivity syndrome, caused by a mutation of the GH receptor (GHR) gene, is extremely rare in the Chinese population. We report a Chinese girl diagnosed with Laron syndrome at age 1.9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR, not previously described, was identified at the donor splice site of intron 6.

  5. The Role of Respiratory Infection in Sudden Infant Death Syndrome (SIDS

    Directory of Open Access Journals (Sweden)

    Mage David T.

    2016-06-01

    Full Text Available Introduction: The Sudden Infant Death Syndrome (SIDS is not likely to be explained by a currently measureable presence in all cases and absence in controls, as otherwise it would have been solved already. Indeed, any proposed physiological model for SIDS causation must explain the constant mathematical and statistical properties of SIDS age and gender. We have shown previously that SIDS are characterized by a common 4-parameter lognormal age distribution sparing neonatal infants, by a nominal 50% male excess, and by a higher rate in winter than summer. We test now whether SIDS is closely related to a fulminating prodromal Acute Respiratory Infection (ARI by a common increasing rate with the infants increasing Live Birth Order (LBO, all remaining the same, independent of the change in preferred sleeping positions of the infants, prone or supine.

  6. Structure of pure SDS and DTAB micelles in brine determined by small-angle neutron scattering (SANS)

    DEFF Research Database (Denmark)

    Bergström, M.; Pedersen, J.S.

    1999-01-01

    The geometrical structure of pure SDS and DTAB surfactant micelles in the absence of added salt as well as its dependence on the concentration of NaBr have been investigated at 40 degrees C using small-angle neutron scattering (SANS). In contrast to previous SANS measurements on the same systems we...... that ordinary surfactant micelles are shaped as circular or elongated bilayers (tablets). Both SDS and DTAB micelles appeared to be disk-like in pure D2O and the corresponding data were best fitted with a model for (monodisperse) oblate ellipsoids of revolution with half axes a=12.0 Angstrom, b=20.3 Angstrom...... ([SDS]=1.0 wt.%) and a=12.4 Angstrom, b=21.6 Angstrom ([DTAB]=1.0 wt.%). The half axis b related to the disk radius increases in both cases with an increasing amount of added salt to about 23 Angstrom (SDS) and 24 Angstrom (DTAB) at [NaBr]=0.1 M and at about [NaBr]=0.2 M the SDS micelles become tablet...

  7. Sudden infant death syndrome: how much mothers and health professionals know.

    Science.gov (United States)

    Yikilkan, Hulya; Unalan, Pemra Cobek; Cakir, Erkan; Ersu, Refika Hamutcu; Cifcili, Serap; Akman, Mehmet; Uzuner, Arzu; Dagli, Elif

    2011-02-01

    Behavioral risk factors are associated with sudden infant death syndrome (SIDS). Education about the risk factors of SIDS is important for prevention. Our aim was to determine the knowledge and attitude of parents and health professionals about SIDS. A total of 174 health professionals and 150 mothers were enrolled in this study. Mothers' data were collected by telephone interview and health-care professionals were interviewed by the same investigator. Only 39% of mothers were aware of SIDS. Forty-six percent of the mothers preferred a supine sleeping position for their infant and 16% of the parents were bed-sharing with their infants. Seventy-three percent of health professionals selected side, 17% supine and 10% prone sleeping position as the safest sleeping position. Frequencies for awareness of risk factors were: bed-sharing (75%), soft bedding (70%), pillow use (52%), toys in bed (90%), high room temperature (67%) and smoking (88%). Total knowledge score of health professionals who selected supine sleeping position as the safest was significantly higher (P sleeping position for their infant. Only 72% of health professionals recommended a certain sleeping position during family interviews. Health professionals are more often recommending the side sleeping position or prone. Education of families and health professionals for the risk factors of SIDS may reduce the number of deaths from SIDS in Istanbul. © 2011 The Authors. Pediatrics International © 2011 Japan Pediatric Society.

  8. SDS interferes with SaeS signaling of Staphylococcus aureus independently of SaePQ.

    Directory of Open Access Journals (Sweden)

    Phuti E Makgotlho

    Full Text Available The Staphylococcus aureus regulatory saePQRS system controls the expression of numerous virulence factors, including extracellular adherence protein (Eap, which amongst others facilitates invasion of host cells. The saePQRS operon codes for 4 proteins: the histidine kinase SaeS, the response regulator SaeR, the lipoprotein SaeP and the transmembrane protein SaeQ. S. aureus strain Newman has a single amino acid substitution in the transmembrane domain of SaeS (L18P which results in constitutive kinase activity. SDS was shown to be one of the signals interfering with SaeS activity leading to inhibition of the sae target gene eap in strains with SaeS(L but causing activation in strains containing SaeS(P. Here, we analyzed the possible involvement of the SaeP protein and saePQ region in SDS-mediated sae/eap expression. We found that SaePQ is not needed for SDS-mediated SaeS signaling. Furthermore, we could show that SaeS activity is closely linked to the expression of Eap and the capacity to invade host cells in a number of clinical isolates. This suggests that SaeS activity might be directly modulated by structurally non-complex environmental signals, as SDS, which possibly altering its kinase/phosphatase activity.

  9. Sudden infant death syndrome and the genetics of inflammation

    Directory of Open Access Journals (Sweden)

    Linda eFerrante

    2015-02-01

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

  10. Serum protein profile of Malaria patients through SDS-PAGE method ...

    African Journals Online (AJOL)

    Serum protein profile of Malaria patients through SDS-PAGE method. ... reliable method in the diagnosis of antibodies produced against Plasmodium spps. ... of malaria patients may be undertaken for study to develop possible future vaccine.

  11. Deaths: Leading Causes for 2011.

    Science.gov (United States)

    Heron, Melonie

    2015-07-27

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

  12. Deaths: Leading Causes for 2015.

    Science.gov (United States)

    Heron, Melonie

    2017-11-01

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

  13. Deaths: Leading Causes for 2013.

    Science.gov (United States)

    Heron, Melonie

    2016-02-16

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

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

    Science.gov (United States)

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

    2015-03-01

    To study the epidemiological characteristics of sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population during 2007 to 2013, we gathered 879 SUNDS victims from Dongguan City and in the Longgang District in Shenzhen City as the case group then selected 879 all-cause death cases, adopting a 1:1 pair method, as the control group I and collected 8142 all-cause death cases from the Bao'an District in Shenzhen City as the control group II, simultaneously. Case information collected was statistically analyzed. The annual incidence of SUNDS is 1.02 and 2.23 per 100,000 person-years for Dongguan City and in the Longgang District, respectively. The number of male and female victims is drastically different, with a ratio of 13.92:1, whereas the incidence between the 2 sexes is significantly different (χ2 = 78.734, P population is significant (χ2 = 767.12, P 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 China and implicated that risk factors of this fatal disease still exist. The efficient strategy of early identification such as molecular diagnosis for SUNDS is extremely urgently required.

  15. Phrenic nerves and diaphragms in sudden infant death syndrome.

    Science.gov (United States)

    Weis, J; Weber, U; Schröder, J M; Lemke, R; Althoff, H

    1998-01-30

    Disturbances of the respiratory system may be an important factor in the cascade of events leading to sudden infant death syndrome (SIDS). Even though the diaphragm is the major respiratory muscle in infants, little is known about alterations of this muscle and of the phrenic nerve in SIDS. In the present study, diaphragms and phrenic nerves of 24 SIDS infants and seven controls were analyzed. Morphometric analysis revealed only slightly larger cross sectional areas of phrenic nerve axons but no increase in myelin sheath thickness in SIDS cases. However, in one SIDS case, myelinated nerve fibre density was severely reduced. Using electron microscopy, several nerve fibres of SIDS infants showed focal accumulations of neurofilaments. Muscle fibre diameters in SIDS diaphragms were significantly larger compared to controls (P fibre ruptures and contracture bands were found. These prominent nonspecific ultrastructural alterations should advise caution in the interpretation of morphometric data. Thus, in some cases exemplified by one case of the present series, decreased density of phrenic nerve myelinated axons might contribute to SIDS. Still, the present results indicate that development of phrenic nerves and diaphragms is not delayed in most SIDS infants.

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

    Science.gov (United States)

    Elhaik, Eran

    2016-01-01

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

  17. Deaths: leading causes for 2010.

    Science.gov (United States)

    Heron, Melonie

    2013-12-20

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

  18. Reye Syndrome

    Science.gov (United States)

    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, ...

  19. The development of a cholesterol biosensor using a liquid crystal/aqueous interface in a SDS-included β-cyclodextrin aqueous solution

    Energy Technology Data Exchange (ETDEWEB)

    Munir, Sundas; Park, Soo-Young, E-mail: psy@knu.ac.kr

    2015-09-17

    Sodium dodecyl sulphate (SDS) including β-cyclodextrin (β-CD) (β-CD{sub SDS}) was used to detect cholesterol at the 4-cyano-4′-pentylbiphenyl (5CB)/aqueous interface in transmission electron microscopy (TEM) grid cells. The β-CD acts as a host for SDS (guest). The guest SDS enclosed within the β-CD cavity was replaced with cholesterol by injecting cholesterol solution into the TEM cell at concentrations greater than 3 μM. The replacement of SDS with cholesterol was confirmed by pH measurement and high performance liquid chromatography (HPLC). The SDS excluded from the β-CD altered the planar orientation of the 5CB confined within the TEM grid cell to a homeotropic orientation. This planar-to-homeotropic transition was observed using a polarized optical microscope under crossed polarizers. This convenient TEM grid cell provides a new method for the selective detection of cholesterol without immobilization of the detecting receptors (enzyme, antibody, or aptamer) or the use of sophisticated instruments. - Highlights: • β-CD-SDS inclusion was used for the detection of cholesterol at 5CB/aqueous interface. • The SDS enclosed within the β-CD cavity was replaced by cholesterol. • The released SDS from the β-CD caused homeotropic orientation of 5CB. • The cholesterol was detected from planar-to-homeotropic transition of 5CB. • This convenient TEM grid cell provides a new method for the selective detection of cholesterol.

  20. Cation modulation of hemoglobin interaction with sodium n-dodecyl sulphate (SDS iv: magnesium modulation at pH 7.20

    Directory of Open Access Journals (Sweden)

    Ali Akbar Moosavi-Movahedi

    2016-03-01

    Full Text Available We investigate the interaction of Mg2+ (0–2.30 mM and sodium n-dodecyl sulfate (SDS with hemoglobins (Hbs A and S at pH 7.20. SDS was used to model both membranes (0.60 mM SDS and proteases (5.0 mM SDS. Via UV-visible spectroscopy, second derivative and difference second derivative spectroscopy, we interrogated for difference(s in the interaction of these ligands with the proteins that can account for the HbS resistance to malaria parasite while been prone to sickling. Our results show that Mg2+ interaction with the proteins lowered the HbS oxygen affinity in comparison with the HbA. Additionally, [SDS]-protein interactions resulted in oxoferryl heme species formation that was prominent for the HbA and highly diminished for the HbS. [Mg2+] introduction to the [SDS]-protein mixture, however decreased the concentration of denatured protein species. The [Mg2+]-[SDS]-protein interactions suggest that while ionic or coulomb interactions for the HbA, in the presence of the surfactants, are [Mg2+] dependent, those of the HbS are not. Furthermore, hydrophobicity is a crucial force for the HbS interaction at neutral pH and is little-masked by ionic, electrostatic or coulombic interactions. In conclusion, at physiological pH, the Mg-SDS interaction decreased the HbS denaturation in comparison to the HbA.

  1. Dialysis Disequilibrium Syndrome: Brain death following hemodialysis for metabolic acidosis and acute renal failure – A case report

    Directory of Open Access Journals (Sweden)

    Bagshaw Sean M

    2004-08-01

    Full Text Available Abstract Background Dialysis disequilibrium syndrome (DDS is the clinical phenomenon of acute neurologic symptoms attributed to cerebral edema that occurs during or following intermittent hemodialysis (HD. We describe a case of DDS-induced cerebral edema that resulted in irreversible brain injury and death following acute HD and review the relevant literature of the association of DDS and HD. Case Presentation A 22-year-old male with obstructive uropathy presented to hospital with severe sepsis syndrome secondary to pneumonia. Laboratory investigations included a pH of 6.95, PaCO2 10 mmHg, HCO3 2 mmol/L, serum sodium 132 mmol/L, serum osmolality 330 mosmol/kg, and urea 130 mg/dL (46.7 mmol/L. Diagnostic imaging demonstrated multifocal pneumonia, bilateral hydronephrosis and bladder wall thickening. During HD the patient became progressively obtunded. Repeat laboratory investigations showed pH 7.36, HCO3 19 mmol/L, potassium 1.8 mmol/L, and urea 38.4 mg/dL (13.7 mmol/L (urea-reduction-ratio 71%. Following HD, spontaneous movements were absent with no pupillary or brainstem reflexes. Head CT-scan showed diffuse cerebral edema with effacement of basal cisterns and generalized loss of gray-white differentiation. Brain death was declared. Conclusions Death is a rare consequence of DDS in adults following HD. Several features may have predisposed this patient to DDS including: central nervous system adaptations from chronic kidney disease with efficient serum urea removal and correction of serum hyperosmolality; severe cerebral intracellular acidosis; relative hypercapnea; and post-HD hemodynamic instability with compounded cerebral ischemia.

  2. Cation modulation of hemoglobin interaction with sodium n-dodecyl sulphate (SDS) iv: magnesium modulation at pH 7.20

    OpenAIRE

    Ali Akbar Moosavi-Movahedi; Ferdinand C. Chilaka; Charles O. Nwamba

    2016-01-01

    We investigate the interaction of Mg2+ (0–2.30 mM) and sodium n-dodecyl sulfate (SDS) with hemoglobins (Hbs) A and S at pH 7.20. SDS was used to model both membranes (0.60 mM SDS) and proteases (5.0 mM SDS). Via UV-visible spectroscopy, second derivative and difference second derivative spectroscopy, we interrogated for difference(s) in the interaction of these ligands with the proteins that can account for the HbS resistance to malaria parasite while been prone to sickling. Our results show ...

  3. Stress responses of duckweed (Lemna minor L.) and water velvet (Azolla filiculoides Lam.) to anionic surfactant sodium-dodecyl-sulphate (SDS).

    Science.gov (United States)

    Forni, C; Braglia, R; Harren, F J M; Cristescu, S M

    2012-04-01

    Surfactants are used for several purposes and recently they have attracted the attention for their ability to modify the behavior of other preexistent or co-disposed contaminants, although their use or discharge in wastewaters can represent a real or potential risk for the environment. Lemna minor L. and Azolla filiculoides Lam. are floating aquatic macrophytes, very effective in accumulating several pollutants including sodium dodecyl sulphate (SDS). In this work we evaluated the effects of SDS on these species by determining the stress ethylene production via laser-based trace gas detection, and the activities of enzymes involved in stress response, such as guaiacol peroxidase (G-POD), phenylalanine ammonia-lyase (PAL) and polyphenol-oxidase (PPO). Phenolics content was also determined. The macrophytes were treated with different concentrations of SDS for one week. SDS affected duckweed enzymatic activities and phenol content. While in the fern phenolics amount, PAL, G-POD and PPO activities were not affected by SDS except for 100 ppm SDS, the only concentration that was taken up and not completely degraded. Stress ethylene production was induced only in the fern treated with 50 and 100 ppm SDS. Copyright © 2011 Elsevier B.V. All rights reserved.

  4. The development of a cholesterol biosensor using a liquid crystal/aqueous interface in a SDS-included β-cyclodextrin aqueous solution

    International Nuclear Information System (INIS)

    Munir, Sundas; Park, Soo-Young

    2015-01-01

    Sodium dodecyl sulphate (SDS) including β-cyclodextrin (β-CD) (β-CD_S_D_S) was used to detect cholesterol at the 4-cyano-4′-pentylbiphenyl (5CB)/aqueous interface in transmission electron microscopy (TEM) grid cells. The β-CD acts as a host for SDS (guest). The guest SDS enclosed within the β-CD cavity was replaced with cholesterol by injecting cholesterol solution into the TEM cell at concentrations greater than 3 μM. The replacement of SDS with cholesterol was confirmed by pH measurement and high performance liquid chromatography (HPLC). The SDS excluded from the β-CD altered the planar orientation of the 5CB confined within the TEM grid cell to a homeotropic orientation. This planar-to-homeotropic transition was observed using a polarized optical microscope under crossed polarizers. This convenient TEM grid cell provides a new method for the selective detection of cholesterol without immobilization of the detecting receptors (enzyme, antibody, or aptamer) or the use of sophisticated instruments. - Highlights: • β-CD-SDS inclusion was used for the detection of cholesterol at 5CB/aqueous interface. • The SDS enclosed within the β-CD cavity was replaced by cholesterol. • The released SDS from the β-CD caused homeotropic orientation of 5CB. • The cholesterol was detected from planar-to-homeotropic transition of 5CB. • This convenient TEM grid cell provides a new method for the selective detection of cholesterol.

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

    Science.gov (United States)

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

    2017-01-29

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

  6. The structure and amphipathy characteristics of modified γ-zeins by SDS or alkali in conjunction with heating treatment.

    Science.gov (United States)

    Dong, Shi-Rong; Xu, Hong-Hua; Tan, Jun-Yan; Xie, Ming-Ming; Yu, Guo-Ping

    2017-10-15

    γ-Zein was modified by SDS or alkali combined with heating treatments in water and in 70% ethanol to change its amphipathic properties and explore the relationship between amphipathic characteristic and structure. γ-Zein water-dispersibility was dramatically increased via alkali or SDS combined with heating treatments, but their ethanol-dispersibilities were significantly different during ethanol evaporation. High both water-dispersibility and ethanol-dispersibility were found from alkali modified γ-zein while high water-dispersibility but low ethanol-dispersibility were obtained from SDS modified γ-zein, indicating that alkali modified γ-zein had better amphipathic characteristic compared with SDS modified γ-zein. Alkali modified γ-zein with higher amphipathic characteristic possessed higher structural inversion ability since it was easy to recover its native state as solvent changing from water to ethanol, contrary to SDS modified γ-zeins whose amphipathic characteristic was not improved. Moreover, the higher structural inversion ability of alkali modified γ-zein depended on the recovery capability of α-helix structure as solvent altering. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment

    Directory of Open Access Journals (Sweden)

    Yi Liu

    2018-02-01

    Full Text Available Shwachman-Diamond syndrome (SDS is a rare pediatric disease characterized by various systemic disorders, including hematopoietic dysfunction. The mutation of Shwachman-Bodian-Diamond syndrome (SBDS gene has been proposed to be a major causative reason for SDS. Although SBDS patients were reported to have shorter telomere length in granulocytes, the underlying mechanism is still unclear. Here we provide data to elucidate the role of SBDS in telomere protection. We demonstrate that SBDS deficiency leads to telomere shortening. We found that overexpression of disease-associated SBDS mutants or knockdown of SBDS hampered the recruitment of telomerase onto telomeres, while the overall reverse transcriptase activity of telomerase remained unaffected. Moreover, we show that SBDS could specifically bind to TPP1 during the S phase of cell cycle, likely functioning as a stabilizer for TPP1-telomerase interaction. Our findings suggest that SBDS is a telomere-protecting protein that participates in regulating telomerase recruitment.

  8. First-year growth in children with Noonan syndrome: Associated with feeding problems?

    Science.gov (United States)

    Croonen, Ellen A; Draaisma, Jos M T; van der Burgt, Ineke; Roeleveld, Nel; Noordam, Cees

    2018-04-01

    Children with Noonan syndrome show rapid decline of growth in the first year of life and feeding problems are present in over 50%. The aim of this study was to explore whether growth decelerates because of feeding problems or other Noonan syndrome-related factors. We performed a retrospective, longitudinal cohort study of clinically and genetically diagnosed subjects with Noonan syndrome (n = 143). Questionnaires about the phenotypic-genotypic profile and reported feeding problems were sent to eligible subjects. Data on first-year growth was obtained from growth charts. Ninety-one participants were excluded because of different criteria. A total of 52 subjects with Noonan syndrome were included. The largest decline in weight and length standard deviation score (SDS) occurred in the first 2.5 months after birth (-1.93 and -1.15, respectively), with feeding problems causing a decline of 0.57 SDS in the remaining months. At 1 year, children with feeding problems were on average 290 g lighter and 0.8 cm shorter than children without feeding problems. Weight gain was also negatively influenced by having a PTPN11 mutation (n = 39) and a higher gestational age, whereas children of parents with Noonan syndrome and with a higher birth weight gained more weight. Growth in length was reduced by having cardiac surgery and a higher gestational age, but positively influenced by birth length and maternal height. Growth in children with Noonan syndrome is impaired right after birth and only partially associated with feeding problems. In addition, several specific Noonan syndrome-related factors seem to influence growth in the first year. © 2018 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2015-08-01

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

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

    Science.gov (United States)

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

    2013-02-01

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

  11. Polyacrylamide gel electrophoresis-SDS as a tool to study myofibrillar proteins. A review.

    Directory of Open Access Journals (Sweden)

    Perez-Chabela, M. Lourdes

    2015-12-01

    Full Text Available Miofibrillar proteins are part of land and sea animals’ muscle. Nonetheless, even when muscle proteins are the same type of proteins, their structure, rigor mortis time, and biochemical process associated to muscle to meat conversion, are different among animal species. This review has the aim to describe the advantages of SDS-polyacrylamide gel electrophoresis (SDS-PAGE in the study of myofibrillar proteins structure, besides the influence of many parameters on this technique to obtain an electrophoretic profile. Applications of this technique as a diagnostic tool in the food science, ecology and health are described as well.

  12. Characterization of glycoprotein biopharmaceutical products by Caliper LC90 CE-SDS gel technology.

    Science.gov (United States)

    Chen, Grace; Ha, Sha; Rustandi, Richard R

    2013-01-01

    Over the last decade, science has greatly improved in the area of protein sizing and characterization. Efficient high-throughput methods are now available to substitute for the traditional labor-intensive SDS-PAGE methods, which alternatively take days to analyze a very limited number of samples. Currently, PerkinElmer(®) (Caliper) has designed an automated chip-based fluorescence detection method capable of analyzing proteins in minutes with sensitivity similar to standard SDS-PAGE. Here, we describe the use and implementation of this technology to characterize and screen a large number of formulations of target glycoproteins in the 14-200 kDa molecular weight range.

  13. Interaction between Pseudomonas and CXC Chemokines Increases Risk of Bronchiolitis Obliterans Syndrome and Death in Lung Transplantation

    Science.gov (United States)

    Wang, Xiaoyan; Weigt, S. Sam; Palchevskiy, Vyacheslav; Lynch, Joseph P.; Ross, David J.; Kubak, Bernard M.; Saggar, Rajan; Fishbein, Michael C.; Ardehali, Abbas; Li, Gang; Elashoff, Robert; Belperio, John A.

    2013-01-01

    Rationale: Pseudomonas aeruginosa is the most commonly isolated gram-negative bacterium after lung transplantation and has been shown to up-regulate glutamic acid–leucine–arginine–positive (ELR+) CXC chemokines associated with bronchiolitis obliterans syndrome (BOS), but the effect of pseudomonas on BOS and death has not been well defined. Objectives: To determine if the influence of pseudomonas isolation and ELR+ CXC chemokines on the subsequent development of BOS and the occurrence of death is time dependent. Methods: A three-state model was developed to assess the likelihood of transitioning from lung transplant (state 1) to BOS (state 2), from transplant (state 1) to death (state 3), and from BOS (state 2) to death (state 3). This Cox semi-Markovian approach determines state survival rates and cause-specific hazards for movement from one state to another. Measurements and Main Results: The likelihood of transition from transplant to BOS was increased by acute rejection, CXCL5, and the interaction between pseudomonas and CXCL1. The pseudomonas effect in this transition was due to infection rather than colonization. Movement from transplant to death was facilitated by pseudomonas infection and single lung transplant. Transition from BOS to death was affected by the length of time in state 1 and by the interactions between any pseudomonas isolation and CXCL5 and aspergillus, either independently or in combination. Conclusions: Our model demonstrates that common post-transplantation events drive movement from one post-transplantation state to another and influence outcomes differently depending upon when after transplantation they occur. Pseudomonas and the ELR+ CXC chemokines may interact to negatively influence lung transplant outcomes. PMID:23328531

  14. Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases.

    Science.gov (United States)

    Turan, Serap; Ozdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

    2008-01-01

    We report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS -3.4 SDS), but showed spontaneous catch-up and ended up with a final height of -2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty.

  15. Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome

    NARCIS (Netherlands)

    Orelio, Claudia; van der Sluis, Renée M.; Verkuijlen, Paul; Nethe, Micha; Hordijk, Peter L.; van den Berg, Timo K.; Kuijpers, Taco W.

    2011-01-01

    Shwachman-Diamond Syndrome (SDS) is a rare inherited disease caused by mutations in the SBDS gene. Hematopoietic defects, exocrine pancreas dysfunction and short stature are the most prominent clinical features. To gain understanding of the molecular properties of the ubiquitously expressed SBDS

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

    Science.gov (United States)

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

    2016-05-01

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

  17. Sudden Cardiac Death

    DEFF Research Database (Denmark)

    Risgaard, Bjarke; Winkel, Bo Gregers; Jabbari, Reza

    2017-01-01

    Objectives This study sought to describe the use of pharmacotherapy in a nationwide cohort of young patients with sudden cardiac death (SCD). Background Several drugs have been associated with an increased risk of SCD and sudden arrhythmic death syndrome (SADS). It remains unclear how...... pharmacotherapy may contribute to the overall burden of SCD in the general population. Methods This was a nationwide study that included all deaths that occurred between 2000 and 2009 and between 2007 and 2009 in people age 1 to 35 years and 36 to 49 years, respectively. Two physicians identified all SCDs through...... review of death certificates. Autopsy reports were collected. Pharmacotherapy prescribed within 90 days before SCD was identified in the Danish Registry of Medicinal Product Statistics. Results We identified 1,363 SCDs; median age was 38 years (interquartile range: 29 to 45 years), and 72% (n = 975) were men...

  18. Genetic variations of robinia pseudoacacia plant using sds-page

    International Nuclear Information System (INIS)

    Zahoor, M.; Islam, N. U.; Nisar, M.

    2015-01-01

    The biochemical analysis using SDS-PAGE has great contribution for the estimation of genetic diversity. We estimated the genetic diversity of R. pseudoacacia germ plasm protein. A total of 19 varieties were collected from different areas of Dir lower were investigated for the level of genetic divergence and genetic linkages. The total germ plasm grouped were separated at 20 percentage distance into two linkages based on Euclidean distances the 19 cultivars were further divide at 45 percentage distance into three clusters, cluster 1, cluster 2 and cluster 3. Cluster 1 was comprised of Munda 3, Munda 4, Talash 2 and UOM 1. Cluster 2 was comprised of Maidan 1 and Gulabad 1. Cluster 3 was comprised Maidan 2, UOM 3, Talash 1, Maidan 4, Maidan 3, Gulabad 2, Gulabad 3 and Gulabad 4. A total of range 00 percentage to 88 percentage variation recoded among 19 varieties. The result obtained after SDS-PAGE were computed for the construction of phylogenetic diversity, geographic relationship, Euclidian distance, genetic distance and linkage distance. This plant show a lot of variation in germ plasmic level. It is concluded that it is possible to improve and produce new varieties of this plant. (author)

  19. SDS-PAGE Electrophoretic Property of Human Chorionic Gonadotropin (hCG) and its β-subunit

    OpenAIRE

    Gam, Lay-Harn; Latiff, Aishah

    2005-01-01

    The microheterogeneity property of hCG with regards to its sialic acid contents resulted in variable mobility of the glycoprotein in SDS-PAGE. The intact hCG molecule is composed of two dissimilar subunits, namely α- and β-subunits. The identification of hCG bands in SDS-PAGE was accomplished by the immunoblotting experiment, whereby the antibody directed toward the specific region of β-subunit of hCG was used. The data shows that the different mobility of intact hCG was attributed to the dif...

  20. Immunochemical characterization of Mycobacterium leprae antigens by the SDS-polyacrylamide gel electrophoresis immunoperoxidase technique (SGIP) using patients' sera

    NARCIS (Netherlands)

    Klatser, P. R.; van Rens, M. M.; Eggelte, T. A.

    1984-01-01

    In this study the SDS-polyacrylamide gel electrophoresis immunoperoxidase (SGIP) assay was used for characterizing the antigenic components of Mycobacterium leprae using patients' sera. This technique involved the separation of mycobacterial sonicates on SDS-polyacrylamide gels, longitudinal

  1. Molecular dynamics simulations of helical antimicrobial peptides in SDS micelles: what do point mutations achieve?

    DEFF Research Database (Denmark)

    Khandelia, Himanshu; Kaznessis, Yiannis N

    2005-01-01

    We report long time scale simulations of the 18-residue helical antimicrobial peptide ovispirin-1 and its analogs novispirin-G10 and novispirin-T7 in SDS micelles. The SDS micelle serves as an economical and effective model for a cellular membrane. Ovispirin, which is initially placed along...... a micelle diameter, diffuses out to the water-SDS interface and stabilizes to an interface-bound steady state in 16.35 ns of simulation. The final conformation, orientation, and the structure of ovispirin are in good agreement with the experimentally observed properties of the peptide in presence of lipid...... bilayers. The simulation succeeds in capturing subtle differences of the membrane-bound peptide structure as predicted by solid state NMR. The novispirins also undergo identical diffusion patterns and similar final conformations. Although the final interface-bound states are similar, the simulations...

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

    Science.gov (United States)

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

    2017-06-01

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

  3. Superiority of SDS lysis over saponin lysis for direct bacterial identification from positive blood culture bottle by MALDI-TOF MS.

    Science.gov (United States)

    Caspar, Yvan; Garnaud, Cécile; Raykova, Mariya; Bailly, Sébastien; Bidart, Marie; Maubon, Danièle

    2017-05-01

    Fast species diagnosis has an important health care impact, as rapid and specific antibacterial therapy is of clear benefit for patient's outcome. Here, a new protocol for species identification directly from positive blood cultures is proposed. Four in-house protocols for bacterial identification by MS directly from clinical positive blood cultures evaluating two lytic agents, SDS and saponin, and two protein extraction schemes, fast (FP) and long (LP) are compared. One hundred and sixty-eight identification tests are carried out on 42 strains. Overall, there are correct identifications to the species level in 90% samples for the SDS-LP, 60% for the SDS-FP, 48% for the saponin LP, and 43% for the saponin FP. Adapted scores allowed 92, 86, 72, and 53% identification for SDS-LP, SDS-FP, saponin LP, and saponin FP, respectively. Saponin lysis is associated with a significantly lower score compared to SDS (0.87 [0.83-0.92], p-value saponin lysis and the application of this rapid and cost-effective protocol in daily routine for microbiological agents implicated in septicemia. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  4. Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.

    Science.gov (United States)

    de Graaf, Michael; Kant, Sarina G; Wit, Jan Maarten; Willem Redeker, Egbert Johan; Eduard Santen, Gijs Willem; Henriëtta Verkerk, Annemieke Johanna Maria; Uitterlinden, André Gerardus; Losekoot, Monique; Oostdijk, Wilma

    2017-12-15

    Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge, there are no reports on the effect of recombinant human GH treatment in CdLS patients. We present a patient born small for gestational age with persistent severe growth retardation [height -3.4 standard deviation score (SDS)] and mild dysmorphic features, who was treated with GH from 4.3 years of age onward and was diagnosed 6 years later with CdLS using whole-exome sequencing. Treatment led to a height gain of 1.6 SDS over 8 years. Treatment was interrupted shortly due to high serum insulin-like growth factor-1 serum values. In conclusion, GH therapy may be effective and safe for short children with CdLS.

  5. Binding Of Ferrocyphen By Sds, Ctab And Triton X-100 In Water ...

    African Journals Online (AJOL)

    SDS), cetyltrimethylammonium bromide (CTAB) and Triton X-100 surfactants was studied spectrophotometrically in water-ethanol medium. The equilibrium binding constant (Kb) and the number of binding sites (n) per surfactant monomer were ...

  6. The "double a" phenotype: Portending allgrove′s syndrome and averting adrenal crisis

    Directory of Open Access Journals (Sweden)

    Soumik Goswami

    2012-01-01

    Full Text Available Introduction: Allgrove′s syndrome is a rare autosomal-recessive disorder with only about 70 cases reported thus far and is characterized by alacrima, achalasia, and ACTH insensitivity among other clinical features. However, it has a widely variable clinical presentation, which may result in such cases remaining undiagnosed. Objective: To report a patient with impending Allgrove′s syndrome and to highlight the importance of clinical suspicion in diagnosing the same. Materials and Methods: A 2.5-year-old girl was diagnosed with impending Allgrove′s syndrome on the basis of clinical presentation, barium swallow study, Schirmer′s test, and hormonal evaluation. Results: A 2.5-year-old girl, born of non-consanguineous marriage, presented with failure to thrive and developmental delay with occasional vomiting on taking solid or semi-solid food for past 6 months. Examination revealed stunted weight (SDS of -4.4 and height (SDS of -4.76, and barium swallow showed presence of achalasia. On direct questioning, her mother mentioned presence of decreased tears on crying since birth, and Schirmer′s test confirmed the presence of dry eyes. Baseline ACTH was slightly elevated with normal basal and post-ACTH stimulation serum cortisol. Based on these findings, impending Allgrove′s syndrome was diagnosed with a plan for follow-up study of adrenal function. Conclusions: Allgrove′s syndrome may be an under diagnosed disorder as aclarima is often overlooked. However, a high index of clinical suspicion may help in avoiding adrenal crisis by diagnosing the condition early.

  7. Aspiration-related deaths in 57 consecutive patients: autopsy study.

    Directory of Open Access Journals (Sweden)

    Xiaowen Hu

    Full Text Available Aspiration can cause a diverse spectrum of pulmonary disorders some of which can lead to death but can be difficult to diagnose.The medical records and autopsy findings of 57 consecutive patients in whom aspiration was the immediate cause of death at Mayo Clinic (Rochester, MN, USA over a 9-yr period, from January 1 2004 to December 31 2012 were analyzed.The median age at death was 72 years (range, 13-95 years and included 39 (68% males. The most common symptom before death was dyspnea (63% and chest radiography revealed bilateral infiltrates in the majority (81%. Most common precipitating factors for aspiration were depressed consciousness (46% and dysphagia (44%. Aspiration-related syndromes leading to death were aspiration pneumonia in 26 (46%, aspiration pneumonitis in 25 (44%, and large airway obstruction in 6 patients (11%. Aspiration was clinically unsuspected in 19 (33% patients. Antimicrobial therapy had been empirically administered to most patients (90% with aspiration pneumonia and aspiration pneumonitis.We conclude aspiration-related deaths occur most commonly in the elderly with identifiable risks and presenting bilateral pulmonary infiltrates. One-third of these aspiration-related pulmonary syndromes were clinically unsuspected at the time of death.

  8. Constitutional Growth Delay Pattern of Growth in Velo−Cardio−Facial Syndrome: Longitudinal follow up and final height of two cases

    Science.gov (United States)

    Özdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

    2008-01-01

    We report two patients with velo−cardio−facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS −3.4 SDS), but showed spontaneous catch−up and ended up with a final height of −2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty. Conflict of interest:None declared. PMID:21318064

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

    Science.gov (United States)

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

    2015-11-15

    Events that induce emotional stress and frustration in a large number of subjects under specific circumstances, such as earthquakes, war conditions, and sporting occasions, may increase the incidence of cardiovascular events, such as acute myocardial infarction, arrhythmias, and sudden cardiac death. This report describes a married couple who expressed an apparently passionate interest in football with hazardous consequences after a tense football match during the FIFA 2014 World Championships. A series of emotional stressors initiated by defeat in this football game lead to cardiac arrest in a 58-year-old man caused by a thrombotic occlusion of the left anterior descending artery and ending in the death of the patient. An hour and 15 minutes after the onset of cardiac arrest of the patient, his 64-year-old wife also had chest pain caused by an acute midventricular takotsubo syndrome. She survived the acute stage of the disease, and there was complete resolution of the left ventricular dysfunction. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. [Human growth hormone and Turner syndrome].

    Science.gov (United States)

    Sánchez Marco, Silvia Beatriz; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José Ignacio; Garagorri Otero, Jesús María

    2017-02-01

    The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone. A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone. A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS). Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Measured parental height in Turner syndrome-a valuable but underused diagnostic tool.

    Science.gov (United States)

    Ouarezki, Yasmine; Cizmecioglu, Filiz Mine; Mansour, Chourouk; Jones, Jeremy Huw; Gault, Emma Jane; Mason, Avril; Donaldson, Malcolm D C

    2018-02-01

    Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS - 2.63 ± 0.94 vs - 1.77 ± 0.81 (p Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean. • Measured parental height is more accurate than reported height. What is New: • In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation. • However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.

  12. Sudden unexpected death in infancy in Denmark

    DEFF Research Database (Denmark)

    Winkel, Bo Gregers; Holst, Anders Gaarsdal; Theilade, Juliane

    2011-01-01

    Abstract Background. Incidence of sudden unexpected death in infancy (SUDI) and sudden infant death syndrome (SIDS) differs among studies and non-autopsied cases are difficult to assess. Objectives. To investigate causes of sudden death in infancy in a nationwide setting. Validate the use...... of the ICD-10 code for SIDS (R95) in the Danish Cause of Death registry. Design. A retrospective analysis of all infant deaths (death certificates and autopsy reports were read. Results. We identified 192 SUDI cases (10% of total deaths, 0.42 per 1000 births......) with autopsy performed in 87% of cases. In total, 49% of autopsied SUDI cases were defined as SIDS (5% of all deaths, 0.22 per 1000 births); Cardiac cause of death was denoted in 24% of cases. The Danish Cause of Death Registry misclassified 30% of SIDS cases. Conclusions. A large proportion of infant deaths...

  13. Prognostic value of myocardial perfusion single-photon emission computed tomography for the prediction of future cardiac events in a Japanese population. A middle-term follow-up study

    International Nuclear Information System (INIS)

    Matsumoto, Naoya; Sato, Yuichi; Suzuki, Yasuyuki

    2007-01-01

    The prognostic value of rest 201 Tl/stress 99m Tc-tetrofosmin myocardial perfusion single-photon emission computed tomography (SPECT) for the prediction of future hard cardiac events, including acute myocardial infarction (AMI), unstable angina (UAP) and cardiac death, and the implications for risk stratification has not yet been defined in a Japanese population. The 1,988 patients who underwent rest 201 Tl/stress 99m Tc-tetrofosmin SPECT were identified and followed up for the occurrence of AMI, UAP and cardiac death. The mean follow-up interval was 26.9±15.8 months. The 142 patients were revascularized within 60 days after SPECT and they were censored from the prognostic analysis. Summed stress score (SSS), summed rest score and summed difference score (SDS) were calculated using a 5-point scoring (Normal: 0, No uptake: 4) and a 20-segment model; 22 cases of myocardial infarction, 31 of UAP and 22 cardiac deaths occurred (1.2%, 1.7% and 1.2%, respectively). Multivariate Cox regression analysis showed that hypertension (Wald 6.37, p<0.05) and SDS (Wald 8.77, p<0.01) were independent predictors of AMI and UAP. Advanced age (Wald 16.0, p<0.001), SSS (Wald 10.9, p<0.01) and SDS (Wald 4.58, p<0.05) were independent predictors of cardiac death. Myocardial perfusion SPECT yields prognostic information toward the identification of acute coronary syndrome and cardiac death. (author)

  14. Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data

    DEFF Research Database (Denmark)

    Andreasen, Charlotte Hartig; Refsgaard, Lena; Nielsen, Jonas B

    2013-01-01

    National Heart, Lung, and Blood Institute Grand Opportunity (NHLBI GO) Exome Sequencing Project (ESP) provided important knowledge on genetic variation in the background population. Our aim was to identify all variants previously associated with SIDS in ESP to improve the discrimination between plausible......Sudden infant death syndrome (SIDS) is the leading cause of death in the first 6 months after birth in the industrialized world. The genetic contribution to SIDS has been investigated intensively and to date, 14 cardiac channelopathy genes have been associated with SIDS. Newly published data from...

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

    Science.gov (United States)

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

    2015-10-01

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

  16. A “wear and tear” hypothesis to explain Sudden Infant Death Syndrome (SIDS

    Directory of Open Access Journals (Sweden)

    Eran Elhaik

    2016-10-01

    Full Text Available Sudden Infant Death Syndrome (SIDS is the leading cause of death in USA infants under one year of age accounting for approximately 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 in 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 hypersensitive 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 cultures that practice high male circumcision rates, like USA whites, will have higher SIDS rates compared to cultures with lower circumcision rates. SIDS rates will also be higher in USA states where Medicaid covers circumcision and lower among cultures 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

  17. Hand size and growth in untreated and IGF-I treated patients with Laron syndrome.

    Science.gov (United States)

    Konen, O; Silbergeld, A; Lilos, P; Kornreich, L; Laron, Z

    2009-03-01

    We have previously reported on the linear growth, growth of the head circumference and foot length in untreated and IGF-I treated patients with Laron syndrome (LS) (primary GH insensitivity). To assess the size and growth of the hands in patients with LS from early childhood to adult age. Ten IGF-I treated children with LS (4 M, 6 F) and 24 untreated patients (10 M, 14 F) were studied. Measurements of palm length were made on available standardized hand X-rays from infancy to adult age. The measurements were compared to normal references and SD values were calculated for each measurement. The growth of the hand was compared to the concomitant height of the body. Hand SDS in untreated patients with LS decreased with age, from a mean of -2.8 +/- 0.7 (age 1-3 years) to -7.3 +/- 0.8 (age 13-15 years) and to -9.0 +/- 3.9 (age 40-50 years). During 9 years of IGF-I treatment the hand size deficit SDS did not improve in contradistinction to the height SDS which decreased from -6.2 +/- 1.2 to -3.9 +/- 0.5. Congenital IGF-I deficiency, as in Laron syndrome, profoundly affects the size and growth of the hand as part of its growth retardation characteristics, resulting in acromicria.

  18. SDS-facilitated in vitro formation of a transmembrane B-type cytochrome is mediated by changes in local pH

    DEFF Research Database (Denmark)

    Weber, M.; Schneider, D.; Prodöhl, A.

    2011-01-01

    cytochrome b(559)', which can be efficiently assembled in vitro from a heme-binding PsbF homo-dimer by combining free heme with the apo-cytochrome b(559)'. Unfolding of the protein dissolved in the mild detergent dodecyl maltoside may be induced by addition of SDS, which at high concentrations leads to dimer...... dissociation. Surprisingly, absorption spectroscopy reveals that heme binding and cytochrome formation at pH 8.0 are optimal at intermediate SDS concentrations. Stopped-flow kinetics revealed that genuine conformational changes are involved in heme binding at these SDS concentrations. GPS (Global Protein...... folding State mapping) NMR measurements showed that optimal heme binding is intimately related to a change in the degree of histidine protonation. In the absence of SDS, the pH curve for heme binding is bell-shaped with an optimum at around pH 6-7. At alkaline pH values, the negative electrostatic...

  19. Interaction between a hydrophobic rigid face and a flexible alkyl tail: Thermodynamics of self-assembling of sodium cholate and SDS

    International Nuclear Information System (INIS)

    Bai, Guangyue; Sheng, Jianhui; Wang, Yujie; Wu, Hui; Zhao, Yang; Zhuo, Kelei; Bastos, Margarida

    2016-01-01

    Highlights: • Critical concentrations and enthalpy changes for stepwise aggregation are obtained by ITC. • ITC allowed the thermodynamic characterization for NaCA/SDS self-assembling. • Steroid face-to-alkyl chain hydrophobic interaction tends to be saturated at molar ratio 1:1.5. • Alkyl-steroid interaction favors micellization of NaCA/SDS and the mixture shows nonideal behavior. • Intermolecular interaction and excess enthalpies were discussed according to Rubingh’s model. - Abstract: The thermodynamics of molecular self-assembling of an anionic biosurfactant, sodium cholate (NaCA) and its mixtures with sodium dodecyl sulfate (SDS) in aqueous solution have been investigated by isothermal titration calorimetry (ITC), along with fluorescence and conductivity measurements. Different critical concentrations were obtained by these three techniques – critical pre-micelle concentration (cmc_p_r_e) and critical micelle concentration (cmc) for pure NaCA, and critical micelle concentrations (cmc_m_i_x) for the mixed systems with differently initial SDS concentrations. Importantly, ITC allowed us to directly measure the enthalpy changes of pre-micelle formation (ΔH_p_r_e_m_i_c = (−0.28 ± 0.02) kJ·mol"−"1) and of micelle formation (ΔH_m_i_c = (−1.76 ± 0.05) kJ·mol"−"1) for pure NaCA as well as the enthalpies for micellization for the mixed systems NaCA/SDS. The non-ideality of the mixed surfactant solution was evaluated in terms of interaction parameters and excess enthalpies that were calculated in the light of Clint’s and Rubingh’s models. It was found that there is an obvious synergistic effect in the NaCA/SDS mixed system. From all these results we can ascribe the strong interaction between the same charge surfactants NaCA and SDS to the structural difference in their hydrophobic moieties. In fact, the flexible alkyl chains of SDS and the non-planar hydrophobic β-faces of NaCA tend to have a more compact packing than pure NaCA.

  20. Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.

    Science.gov (United States)

    Linglart, A; Cabrol, S; Berlier, P; Stuckens, C; Wagner, K; de Kerdanet, M; Limoni, C; Carel, J-C; Chaussain, J-L

    2011-06-01

    Adult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS. Girls (n=61) aged <4 years with TS receiving 0.035-0.05 mg/kg per day r-hGH for 4 years were compared with an historical control group (n=51) comprising untreated, age- and height-matched girls with TS. The main outcome measure was change in height SDS (H-SDS). Other measures included changes in height velocity SDS, IGF1 levels and glucose metabolism. After 4 years, a gain in mean H-SDS of 1.0 SDS (from -2.33±0.73 to -1.35±0.86 SDS) was observed with r-hGH treatment, in contrast to the decrease in mean H-SDS of 0.3 SDS in the control group (from -2.09±0.81 to -2.44±0.73 SDS; P<0.0001). r-hGH treatment was the main predictor of H-SDS gain and accounted for 52% of variability (multivariate analysis). r-hGH was well tolerated. As expected, IGF1 levels rose with treatment. A case of transient glucose intolerance resolved after dietary adaptation. Early treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy.

  1. Foam capacity and stability of Sodium Dodecyl Sulfate (SDS) on the presence of contaminant coffee and Cd ions in solution

    Science.gov (United States)

    Haryanto, B.; Chang, C. H.; Kuo, A. T.; Siswarni, M. Z.; Sinaga, T. M. A.

    2018-02-01

    In this study, the effect of the coffee colloidal particle and Cd ion contaminant on the foam capacity and stability of sodium dodecyl sulfate (SDS) solution was investigated. The foam was generated by using a foam generator. The foam capacity of SDS was first evaluated at different concentrations. After the foam capacity reaching a constant value, the foam stability was then measured by flowing to a column. The results showed that the presence the coffee colloidal particles or Cd ions in the solution would decrease the foam capacity and stability of SDS. In addition, the decreased foam capacity and stability was more pronounced in the presence of coffee colloidal particles than Cd ions. The colloidal particles may have stronger interaction with SDS and thus reduce the formation of the foam.

  2. Sex Differences in the Risk of Developing Acute Coronary Syndrome in Patients With Sleep Disorders: A Population-Based Cohort Study.

    Science.gov (United States)

    Chung, Wei-Sheng; Lin, Hsuan-Hung

    2017-09-01

    Studies that focus on the relationship between sex and the risk of acute coronary syndrome (ACS) are scant. The current study investigated the effects of sex differences in the risk of developing ACS in patients with sleep disorders (SDs). This longitudinal population-based cohort study evaluated the incidence and risk of ACS development in 40,232 men and 65,519 women newly diagnosed with SDs between 2002 and 2008 from the Longitudinal Health Insurance Database. The follow-up period began from the entry date and ended on the date of an ACS event or December 31, 2010. Univariable and multivariable Cox proportional hazard regression models were conducted to estimate the sex differences in the risk of ACS. Men with SDs exhibited an increased incidence of ACS compared with women with SDs in all age- and comorbidity-specific subgroups. After covariates were adjusted, the men with SDs exhibited a 1.48-fold adjusted hazard ratio (aHR) of ACS compared with the women with SDs (95% confidence interval [CI] = 1.36-1.60). After age group stratification, the men with SDs in the young adult group exhibited the highest risk of subsequent ACS development compared with the women with SDs (aHR = 2.07, 95% CI = 1.69-2.55), followed by those in middle-aged adults (aHR = 1.52, 95% CI = 1.32-1.76) and older adults groups (aHR = 1.24, 95% CI = 1.11-1.39). This study determined that men with SDs, particularly young men, are at a higher risk of subsequent ACS development compared with women with SDs.

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

    Science.gov (United States)

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

    2013-11-01

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

  4. Nonelectrophoretic bidirectional transfer of a single SDS-PAGE gel with multiple antigens to obtain 12 immunoblots.

    Science.gov (United States)

    Kurien, Biji T; Scofield, R Hal

    2009-01-01

    Protein blotting is an invaluable technique in immunology to detect and characterize proteins of low abundance. Proteins resolved on sodium dodecyl sulfate (SDS) polyacrylamide gels are normally transferred electrophoretically to adsorbent membranes such as nitrocellulose or polyvinylidene diflouride membranes. Here, we describe the nonelectrophroretic transfer of the Ro 60 (or SSA) autoantigen, 220- and 240-kD spectrin antigens, and prestained molecular weight standards from SDS polyacrylamide gels to obtain up to 12 immunoblots from a single gel and multiple sera.

  5. Polyurethane foam loaded with SDS for the adsorption of cationic dyes from aqueous medium: Multivariate optimization of the loading process.

    Science.gov (United States)

    Robaina, Nicolle F; Soriano, Silvio; Cassella, Ricardo J

    2009-08-15

    This paper reports the development of a new procedure for the adsorption of four cationic dyes (Rhodamine B, Methylene Blue, Crystal Violet and Malachite Green) from aqueous medium employing polyurethane foam (PUF) loaded with sodium dodecylsulfate (SDS) as solid phase. PUF loading process was based on the stirring of 200mg PUF cylinders with acidic solutions containing SDS. The conditions for loading were optimized by response surface methodology (RSM) using a Doehlert design with three variables that were SDS and HCl concentrations and stirring time. Results obtained in the optimization process showed that the stirring time is not a relevant parameter in the PUF loading, evidencing that the transport of SDS from solution to PUF surface is fast. On the other hand, both SDS and HCl concentrations were important parameters causing significant variation in the efficiency of the resulting solid phase for the removal of dyes from solution. At optimized conditions, SDS and HCl concentrations were 4.0 x 10(-4) and 0.90 mol L(-1), respectively. The influence of stirring time was evaluated by univariate methodology. A 20 min stirring time was established in order to make the PUF loading process fast and robust without losing efficiency. The procedure was tested for the removal of the four cationic dyes from aqueous solutions and removal efficiencies always better than 90% were achieved for the two concentrations tested (2.0 x 10(-5) and 1.0 x 10(-4)mol L(-1)).

  6. Cell Death Biomarkers and Obstructive Sleep Apnea: Implications in the Acute Coronary Syndrome.

    Science.gov (United States)

    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

    2017-05-01

    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 Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

  7. SDS, a structural disruption score for assessment of missense variant deleteriousness

    Directory of Open Access Journals (Sweden)

    Thanawadee ePreeprem

    2014-04-01

    Full Text Available We have developed a novel structure-based evaluation for missense variants that explicitly models protein structure and amino acid properties to predict the likelihood that a variant disrupts protein function. A structural disruption score (SDS is introduced as a measure to depict the likelihood that a case variant is functional. The score is constructed using characteristics that distinguish between causal and neutral variants within a group of proteins. The SDS score is correlated with standard sequence-based deleteriousness, but shows promise for improving discrimination between neutral and causal variants at less conserved sites.The prediction was performed on 3-dimentional structures of 57 gene products whose homozygous SNPs were identified as case-exclusive variants in an exome sequencing study of epilepsy disorders. We contrasted the candidate epilepsy variants with scores for likely benign variants found in the EVS database, and for positive control variants in the same genes that are suspected to promote a range of diseases. To derive a characteristic profile of damaging SNPs, we transformed continuous scores into categorical variables based on the score distribution of each measurement, collected from all possible SNPs in this protein set, where extreme measures were assumed to be deleterious. A second epilepsy dataset was used to replicate the findings. Causal variants tend to receive higher sequence-based deleterious scores, induce larger physico-chemical changes between amino acid pairs, locate in protein domains, buried sites or on conserved protein surface clusters, and cause protein destabilization, relative to negative controls. These measures were agglomerated for each variant. A list of nine high-priority putative functional variants for epilepsy was generated. Our newly developed SDS protocol facilitates SNP prioritization for experimental validation.

  8. Incidência da síndrome da morte súbita em coorte de lactentes The incidence of sudden death syndrome in a cohort of infants

    Directory of Open Access Journals (Sweden)

    Lorena T. C. Geib

    2006-02-01

    Full Text Available OBJETIVOS: Quantificar a incidência de síndrome da morte súbita do lactente no município de Passo Fundo (RS e descrever o perfil dos óbitos. MÉTODOS: Coorte de base populacional, de nascidos vivos no período de fevereiro de 2003 a janeiro de 2004, domiciliados na zona urbana. Excluíram-se lactentes hospitalizados desde o nascimento, crianças em processo de adoção e óbitos ocorridos antes da coleta de dados. Dos 2.634 nascidos vivos, foram incluídas 2.411 crianças, acompanhando-se 2.285 (94,8%. Os dados foram coletados no Sistema de Informações sobre Nascidos Vivos, declarações de óbito, registros do comitê de mortalidade infantil e mediante entrevistas domiciliares com a mãe social. Os instrumentos foram adaptados de formulários validados previamente. Os dados foram analisados no Epi-Info, com estatística descritiva. RESULTADOS: Foram registrados 10 óbitos (0,4%. Quatro de causa indeterminada puderam ser incluídos na categoria III de síndrome da morte súbita do lactente. Ocorreram entre os 2 e 5 meses, no domicílio, em crianças que dormiam na posição lateral, em cama com adultos, utilizando colchão macio, travesseiro e fralda sobre a face. Eram filhos de mãe jovens, fumantes, pré-natal incompleto, multíparas e de classes econômicas desfavorecidas. A incidência de suspeita dessa síndrome foi de 1,75/1.000. CONCLUSÃO: A taxa de incidência de suspeita de síndrome da morte súbita do lactente em Passo Fundo é compatível com os maiores coeficientes internacionais, sugerindo medidas de vigilância e prevenção de riscos.OBJECTIVES: To quantify the incidence of sudden infant death syndrome in the town of Passo Fundo, in Rio Grande do Sul, Brazil, and to describe the profile of the deaths observed. METHODS: A population-based cohort study of the live births from February 2003 to January 2004 to parents resident in the urban area. Infants were excluded if they had been hospitalized since birth, were in the

  9. Sudden cardiac death in athletes and its preventive strategies: review article

    Directory of Open Access Journals (Sweden)

    Farzin Halabchi

    2017-12-01

    Full Text Available Sudden cardiac death in sport, although rare, but is a tragic event, attracting the media and public attention. Sport and exercise may act as a trigger for sudden cardiac death. Risk of sudden death in young athletes with cardiovascular disease is 2.5 times more frequent than non-athlete individuals. More than 90% of cases of sudden death occur during or immediately after training or competition. Incidence of sudden cardiac death in any population, including athletes, is related to multiple factors such as gender, age, race, nationality, diagnostic screening methods and preventive measures for sudden cardiac death. Otherwise, incidence rate of sudden cardiac death is linked to the used definition and method of diagnosis. Different cardiovascular disorders may result in death of young athletes and hypertrophic cardiomyopathy, congenital coronary anomalies, arrhythmogenic right ventricular dysplasia and aortic rupture are among the most common causes. Marfan syndrome, dilated cardiomyopathy, viral myocarditis, Wolff-Parkinson-White (WPW syndrome, congenital long QT syndrome, Brugada syndrome and commotio cordis are reported as other etiologies. In older athletes (more than 35 years, ischemic coronary heart disease is responsible for majority of the cases similar to the general population. Because the outcome of sudden cardiac arrest in sports is very poor except in few cases, proper national strategies are needed to diminish the burden of sudden death in young athletes. It seems that there are two main strategies to achieve this goal: A Primary prevention with use of purposeful pre-participation evaluation programs. This evaluation should focuss on the proper history and physical examination. Nevertheless, there is significant debate between American and European countries regarding the use of paraclinical investigations (especially ECG. American heart association does not recommend ECG as an essential part of evaluation. In contrast, European

  10. Removal of fluoride, SDS, ammonia and turbidity from semiconductor wastewater by combined electrocoagulation-electroflotation.

    Science.gov (United States)

    Aoudj, S; Khelifa, A; Drouiche, N

    2017-08-01

    Semiconductor industry effluents contain organic and inorganic pollutants, such as sodium dodecyl sulfate (SDS), fluoride and ammonia, at high levels which consists a major environmental issue. A combined EC-EF process is proposed as a post-treatment after precipitation for simultaneous clarification and removal of pollutants. In EC step, a hybrid Fe-Al was used as the soluble anode in order to avoid supplementary EC step. EC-Fe is more suitable for SDS removal; EC-Al is more suitable for fluoride removal, while EC with hybrid Al-Fe makes a good compromise. Clarification and ammonia oxidation were achieved in the EF step. Effects of anodic material, initial pH, current, anion nature, chloride concentration and initial pollutant concentration were studied. The final concentrations may reach 0.27, 6.23 and 0.22 mg L -1 for SDS, fluoride and ammonia respectively. These concentrations are far lower than the correspondent discharge limits. Similarly, the final turbidity was found 4.35 NTU which is lower than 5NTU and the treated water does not need further filtration before discharge. Furthermore, the EC-EF process proves to be sufficiently energy-efficient with less soluble electrode consumption. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. SDS-binding assay based on tyrosine fluorescence as a tool to determine binding properties of human serum albumin in blood plasma

    Science.gov (United States)

    Zhdanova, Nadezda; Shirshin, Evgeny; Fadeev, Victor; Priezzhev, Alexander

    2016-04-01

    Among all plasma proteins human serum albumin (HSA) is the most studied one as it is the main transport protein and can bind a wide variety of ligands especially fatty acids (FAs). The concentration of FAs bound to HSA in human blood plasma differs by three times under abnormal conditions (fasting, physical exercises or in case of social important diseases). In the present study a surfactant sodium dodecyl sulfate (SDS) was used to simulate FAs binding to HSA. It was shown that the increase of Tyr fluorescence of human blood plasma due to SDS addition can be completely explained by HSA-SDS complex formation. Binding parameters of SDS-HSA complex (average number of sites and apparent constant of complex formation) were determined from titration curves based on tyrosine (Tyr) fluorescence.

  12. X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

    Science.gov (United States)

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H; Bours, Vincent; Liu, Pengfei; W de Herder, Wouter; Pellegata, Natalia; Lupski, James R; Daly, Adrian F; Stratakis, Constantine A

    2015-06-01

    X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. © 2015 Society for Endocrinology.

  13. A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.

    Science.gov (United States)

    Lu, Simin; Kanekura, Kohsuke; Hara, Takashi; Mahadevan, Jana; Spears, Larry D; Oslowski, Christine M; Martinez, Rita; Yamazaki-Inoue, Mayu; Toyoda, Masashi; Neilson, Amber; Blanner, Patrick; Brown, Cris M; Semenkovich, Clay F; Marshall, Bess A; Hershey, Tamara; Umezawa, Akihiro; Greer, Peter A; Urano, Fumihiko

    2014-12-09

    Wolfram syndrome is a genetic disorder characterized by diabetes and neurodegeneration and considered as an endoplasmic reticulum (ER) disease. Despite the underlying importance of ER dysfunction in Wolfram syndrome and the identification of two causative genes, Wolfram syndrome 1 (WFS1) and Wolfram syndrome 2 (WFS2), a molecular mechanism linking the ER to death of neurons and β cells has not been elucidated. Here we implicate calpain 2 in the mechanism of cell death in Wolfram syndrome. Calpain 2 is negatively regulated by WFS2, and elevated activation of calpain 2 by WFS2-knockdown correlates with cell death. Calpain activation is also induced by high cytosolic calcium mediated by the loss of function of WFS1. Calpain hyperactivation is observed in the WFS1 knockout mouse as well as in neural progenitor cells derived from induced pluripotent stem (iPS) cells of Wolfram syndrome patients. A small-scale small-molecule screen targeting ER calcium homeostasis reveals that dantrolene can prevent cell death in neural progenitor cells derived from Wolfram syndrome iPS cells. Our results demonstrate that calpain and the pathway leading its activation provides potential therapeutic targets for Wolfram syndrome and other ER diseases.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    Parnia, Sam

    2014-11-01

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

  16. Sodium Dodecyl Sulfate (SDS-Loaded Nanoporous Polymer as Anti-Biofilm Surface Coating Material

    Directory of Open Access Journals (Sweden)

    Sokol Ndoni

    2013-02-01

    Full Text Available Biofilms cause extensive damage to industrial settings. Thus, it is important to improve the existing techniques and develop new strategies to prevent bacterial biofilm formation. In the present study, we have prepared nanoporous polymer films from a self-assembled 1,2-polybutadiene-b-polydimethylsiloxane (1,2-PB-b-PDMS block copolymer via chemical cross-linking of the 1,2-PB block followed by quantitative removal of the PDMS block. Sodium dodecyl sulfate (SDS was loaded into the nanoporous 1,2-PB from aqueous solution. The SDS-loaded nanoporous polymer films were shown to block bacterial attachment in short-term (3 h and significantly reduce biofilm formation in long-term (1 week by gram-negative bacterium Escherichia coli. Tuning the thickness or surface morphology of the nanoporous polymer films allowed to extent the anti-biofilm capability.

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

    Science.gov (United States)

    Érlikh, A D

    2010-01-01

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

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

    Science.gov (United States)

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

    2018-06-01

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

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

    Science.gov (United States)

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

    2014-07-01

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

  20. iSDS: a self-configurable software-defined storage system for enterprise

    Science.gov (United States)

    Chen, Wen-Shyen Eric; Huang, Chun-Fang; Huang, Ming-Jen

    2018-01-01

    Storage is one of the most important aspects of IT infrastructure for various enterprises. But, enterprises are interested in more than just data storage; they are interested in such things as more reliable data protection, higher performance and reduced resource consumption. Traditional enterprise-grade storage satisfies these requirements at high cost. It is because traditional enterprise-grade storage is usually designed and constructed by customised field-programmable gate array to achieve high-end functionality. However, in this ever-changing environment, enterprises request storage with more flexible deployment and at lower cost. Moreover, the rise of new application fields, such as social media, big data, video streaming service etc., makes operational tasks for administrators more complex. In this article, a new storage system called intelligent software-defined storage (iSDS), based on software-defined storage, is described. More specifically, this approach advocates using software to replace features provided by traditional customised chips. To alleviate the management burden, it also advocates applying machine learning to automatically configure storage to meet dynamic requirements of workloads running on storage. This article focuses on the analysis feature of iSDS cluster by detailing its architecture and design.

  1. A Fluorescent Oligothiophene-Bis-Triazine ligand interacts with PrP fibrils and detects SDS-resistant oligomers in human prion diseases.

    Science.gov (United States)

    Imberdis, Thibaut; Ayrolles-Torro, Adeline; Duarte Rodrigues, Alysson; Torrent, Joan; Alvarez-Martinez, Maria Teresa; Kovacs, Gabor G; Verdier, Jean-Michel; Robitzer, Mike; Perrier, Véronique

    2016-01-26

    Prion diseases are characterized by the accumulation in the central nervous system of an abnormally folded isoform of the prion protein, named PrP(Sc). Aggregation of PrP(Sc) into oligomers and fibrils is critically involved in the pathogenesis of prion diseases. Oligomers are supposed to be the key neurotoxic agents in prion disease, so modulation of prion aggregation pathways with small molecules can be a valuable strategy for studying prion pathogenicity and for developing new diagnostic and therapeutic approaches. We previously identified thienyl pyrimidine compounds that induce SDS-resistant PrP(Sc) (rSDS-PrP(Sc)) oligomers in prion-infected samples. Due to the low effective doses of the thienyl pyrimidine hits, we synthesized a quaterthiophene-bis-triazine compound, called MR100 to better evaluate their diagnostic and therapeutic potentials. This molecule exhibits a powerful activity inducing rSDS-PrP(Sc) oligomers at nanomolar concentrations in prion-infected cells. Fluorescence interaction studies of MR100 with mouse PrP fibrils showed substantial modification of the spectrum, and the interaction was confirmed in vitro by production of rSDS-oligomer species upon incubation of MR100 with fibrils in SDS-PAGE gel. We further explored whether MR100 compound has a potential to be used in the diagnosis of prion diseases. Our results showed that: (i) MR100 can detect rSDS-oligomers in prion-infected brain homogenates of various species, including human samples from CJD patients; (ii) A protocol, called "Rapid Centrifugation Assay" (RCA), was developed based on MR100 property of inducing rSDS-PrP(Sc) oligomers only in prion-infected samples, and avoiding the protease digestion step. RCA allows the detection of both PK-sensitive and PK-resistant PrP(Sc) species in rodents samples but also from patients with different CJD forms (sporadic and new variant); (iii) A correlation could be established between the amount of rSDS-PrP(Sc) oligomers revealed by MR100 and the

  2. Overset Wolff-Parkinson-White-syndrom

    DEFF Research Database (Denmark)

    Nielsen, Trine Skov; Dalager, Søren; Larsen, Maiken Kudahl

    2010-01-01

    An autopsy in a 28-year-old man did not explain the cause of sudden unexpected death. However, a history of episodes with tachycardia and dizziness and a reassessed previous electrocardiogram exhibiting ventricular pre-excitation was consistent with Wolff-Parkinson-White (WPW) syndrome. In this p......An autopsy in a 28-year-old man did not explain the cause of sudden unexpected death. However, a history of episodes with tachycardia and dizziness and a reassessed previous electrocardiogram exhibiting ventricular pre-excitation was consistent with Wolff-Parkinson-White (WPW) syndrome...

  3. Enhancing phosphate adsorption capacity of SDS-based magnetite by surface modification of citric acid

    International Nuclear Information System (INIS)

    Yu, Zhigang; Zhang, Chang; Zheng, Zuhong; Hu, Liang; Li, Xuemei; Yang, Zhongzhu; Ma, Chi; Zeng, Guangming

    2017-01-01

    Highlights: • Citric acid (CA) was used to modify the surface structures of SDS-based magnetite. • Dosage of CA, pH values, ion strength, isotherms and dynamics were analyzed. • High CA dissolved anionic SDS and Fe n+ but increased the stability of magnetite. • 0.05 and 0.1 M CA-modified iron oxide removed about 100% phosphorus. • Precipitation of phosphate and Fe n+ was the main removal mechanism. - Abstract: In this study, citric acid (CA) was employed as a low-molecule organic acid to influence the adsorption performance of phosphorus by as-obtained magnetite. The factors including initial phosphate concentrations, dosage of citric acid, pH value, ion strength, contact time and temperature were examined in detail. Results indicated that the dissolution of anion sodium dodecyl sulfate (SDS) covering on surface of magnetite, a slight decrease of Fe level and a superior structure of magnetite after CA modification occurred. The pH-dependence of phosphate adsorption was impeded and the surface potential of magnetite positively increased at pH > 5.0 when CA was added. Non-linear regression Langmuir-Freundlich model was fitted well in thermodynamics, and the opposite adsorption process as a function of temperatures with or without CA addition was due to the decrease of active energy and active mobility of phosphate ion. Finally, the declining adsorption efficiency with increasing cycles was observed while phosphate removal was approximately finished and had small change with 0.05 and 0.1 M of CA addition. Those improvements of removal efficiency of phosphorus by modified iron oxide were because of the removal of anionic SDS that increased the surface positive charge, and especially the dissolution of element Fe into solution to form precipitate with phosphorus ions. The enhanced stability of magnetite by CA also promoted the high removal efficiency of phosphorus. These implications of CA on phosphate removal can be extended to the field where phosphate

  4. Enhancing phosphate adsorption capacity of SDS-based magnetite by surface modification of citric acid

    Energy Technology Data Exchange (ETDEWEB)

    Yu, Zhigang [College of Environmental Science and Engineering, Hunan University, Changsha 410082 (China); Key Laboratory of Environmental Biology and Pollution Control (Hunan University), Ministry of Education, Changsha 410082 (China); Zhang, Chang, E-mail: zhangchang@hnu.edu.cn [College of Environmental Science and Engineering, Hunan University, Changsha 410082 (China); Key Laboratory of Environmental Biology and Pollution Control (Hunan University), Ministry of Education, Changsha 410082 (China); Zheng, Zuhong [College of Life Science and Technology, Hubei Engineering University, Xiaogan 432000, Hubei Province (China); Hu, Liang; Li, Xuemei; Yang, Zhongzhu; Ma, Chi; Zeng, Guangming [College of Environmental Science and Engineering, Hunan University, Changsha 410082 (China); Key Laboratory of Environmental Biology and Pollution Control (Hunan University), Ministry of Education, Changsha 410082 (China)

    2017-05-01

    Highlights: • Citric acid (CA) was used to modify the surface structures of SDS-based magnetite. • Dosage of CA, pH values, ion strength, isotherms and dynamics were analyzed. • High CA dissolved anionic SDS and Fe{sup n+} but increased the stability of magnetite. • 0.05 and 0.1 M CA-modified iron oxide removed about 100% phosphorus. • Precipitation of phosphate and Fe {sup n+} was the main removal mechanism. - Abstract: In this study, citric acid (CA) was employed as a low-molecule organic acid to influence the adsorption performance of phosphorus by as-obtained magnetite. The factors including initial phosphate concentrations, dosage of citric acid, pH value, ion strength, contact time and temperature were examined in detail. Results indicated that the dissolution of anion sodium dodecyl sulfate (SDS) covering on surface of magnetite, a slight decrease of Fe level and a superior structure of magnetite after CA modification occurred. The pH-dependence of phosphate adsorption was impeded and the surface potential of magnetite positively increased at pH > 5.0 when CA was added. Non-linear regression Langmuir-Freundlich model was fitted well in thermodynamics, and the opposite adsorption process as a function of temperatures with or without CA addition was due to the decrease of active energy and active mobility of phosphate ion. Finally, the declining adsorption efficiency with increasing cycles was observed while phosphate removal was approximately finished and had small change with 0.05 and 0.1 M of CA addition. Those improvements of removal efficiency of phosphorus by modified iron oxide were because of the removal of anionic SDS that increased the surface positive charge, and especially the dissolution of element Fe into solution to form precipitate with phosphorus ions. The enhanced stability of magnetite by CA also promoted the high removal efficiency of phosphorus. These implications of CA on phosphate removal can be extended to the field where

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

    Science.gov (United States)

    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.

  6. Genetic Variability among Lucerne Cultivars Based on Biochemical (SDS-PAGE) and Morphological Markers

    Science.gov (United States)

    Farshadfar, M.; Farshadfar, E.

    The present research was conducted to determine the genetic variability of 18 Lucerne cultivars, based on morphological and biochemical markers. The traits studied were plant height, tiller number, biomass, dry yield, dry yield/biomass, dry leaf/dry yield, macro and micro elements, crude protein, dry matter, crude fiber and ash percentage and SDS- PAGE in seed and leaf samples. Field experiments included 18 plots of two meter rows. Data based on morphological, chemical and SDS-PAGE markers were analyzed using SPSSWIN soft ware and the multivariate statistical procedures: cluster analysis (UPGMA), principal component. Analysis of analysis of variance and mean comparison for morphological traits reflected significant differences among genotypes. Genotype 13 and 15 had the greatest values for most traits. The Genotypic Coefficient of Variation (GCV), Phenotypic Coefficient of Variation (PCV) and Heritability (Hb) parameters for different characters raged from 12.49 to 26.58% for PCV, hence the GCV ranged from 6.84 to 18.84%. The greatest value of Hb was 0.94 for stem number. Lucerne genotypes could be classified, based on morphological traits, into four clusters and 94% of the variance among the genotypes was explained by two PCAs: Based on chemical traits they were classified into five groups and 73.492% of variance was explained by four principal components: Dry matter, protein, fiber, P, K, Na, Mg and Zn had higher variance. Genotypes based on the SDS-PAGE patterns all genotypes were classified into three clusters. The greatest genetic distance was between cultivar 10 and others, therefore they would be suitable parent in a breeding program.

  7. Transfer in SDS of biotinylated proteins from acrylamide gels to an avidin-coated membrane filter.

    Science.gov (United States)

    Karlin, Arthur; Wang, Chaojian; Li, Jing; Xu, Qiang

    2004-06-01

    Avidin was covalently linked to aldehyde-derivatized polyethersulfone membrane filters. These filters were used in Western blot analysis of proteins reacted with biotinylation reagents and electrophoresed in sodium dodecyl sulfate (SDS) on polyacrylamide gels. Electrophoretic transfer from the gels to these filters was in 0.1% SDS, in which the covalently bound avidin retained its biotin-binding capacity. We compared Western blots on avidin-coated membrane filters of biotinylated and nonbiotinylated forms of mouse immunoglobulin G (IgG), mouse IgG heavy chain, muscle-type acetylcholine receptor alpha subunit, and fused alpha and beta subunits of receptor. Biotinylated proteins were captured with high specificity compared to their nonbiotinylated counterparts and sensitively detected on the avidin-coated membranes.

  8. Molecular Level Understanding of Sodium Dodecyl Sulfate (SDS) Induced Sol-Gel Transition of Pluronic F127 Using Fisetin as a Fluorescent Molecular Probe.

    Science.gov (United States)

    Mishra, Jhili; Swain, Jitendriya; Mishra, Ashok Kumar

    2018-01-11

    The thermoreversible sol-gel transition of pluronic F127 is markedly altered even with addition of submicellar concentration of sodium dodecyl sulfate (SDS) surfactant. Multiple fluorescence parameters like fluorescence intensity, fluorescence anisotropy and fluorescence lifetime of both the prototropic forms (anion (A - *) and phototautomer FT*) of the photoprototropic fluorescent probe fisetin has been efficiently used to understand the molecular level properties like polarity and microviscosity of the PF127-SDS system as a function of temperature. The SDS-induced increase in the interfacial hydrophobicity level is seen to affect the sol-gel phase transition of PF127 (21-18 °C). The E T (30) polarity parameter value of anionic emission of fisetin suggests that there is a considerable decrease in the polarity of the PF127 medium with increase in temperature and with the addition of SDS. The microviscosity progressively increases from ∼5 mPa s (sol state, 10 °C) to ∼22.01 mPa s (gel state 35 °C) in aqueous solution of PF127. The variation in microviscosity with addition of SDS in PF127-SDS mixed system is significant in sol phase whereas in gel phase this variation is significantly less. Temperature dependent fluorescence lifetime of FT* indicates that there is heterogeneity in distribution of fisetin molecules at different domains of PF127. This work also show-cases the sensitivity of fisetin toward change in polarity and change in sol-gel transition temperature of copolymer PF127 with variation in temperature (both forward and reverse directions) and SDS.

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

    Science.gov (United States)

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

    2013-01-01

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

  10. Abnormal serum IgG subclass pattern in children with Down's syndrome.

    Science.gov (United States)

    Annerén, G; Magnusson, C G; Lilja, G; Nordvall, S L

    1992-05-01

    Susceptibility to infections is a well known feature of Down's syndrome. The possible relation between this predisposition and the serum concentrations of the IgG subclasses was studied in 38 children with Down's syndrome aged 1-12 years. An age matched group of 50 healthy children served as controls. The serum concentrations of IgG1 and IgG3 were significantly raised among children with Down's syndrome in all three age groups studied (that is 1-2.5, 4-8, and 9-12 years). The serum concentrations of IgG2 were normal in the first two groups but significantly reduced in the third age group. In contrast, the concentrations of IgG4 among children with Down's syndrome were significantly reduced in all three age groups. Moreover, among the children with Down's syndrome aged 4-12 years 68% (15/22) had IgG4 concentrations below 2 SDs of the geometrical mean of the controls. The results may partially explain the proneness of children with Down's syndrome to infections with encapsulated bacteria. Although the underlying cause of these abnormalities is unknown, IgG subclass determination seems relevant in the clinical evaluation of children with Down's syndrome.

  11. Micellar effects on positronium lifetime in aqueous SDS solutions

    International Nuclear Information System (INIS)

    Vass, Sz.; Kajcsos, Zs.; Molnar, B.; Stergiopoulos, Ch.

    1981-09-01

    Positron lifetime measurements have been performed in aqueous SDS (Sodium Dodecyl Sulphate) solutions. The lifetime distributions measured by fast-slow coincidence technique have been found to be influenced by surfactant concentration, which varied in the range of 1.25x10 -3 - 3.2x10 -1 mol/dm 3 (i.e. 2.27x10 -5 - 5.82x10 -3 mole fractions). The lifetime of the long living component connected to positronium formation and decay increases with increasing surfactant concentration. Lifetime data suggest that a direct positronium-micelle electron-exchange reaction leading to pick-off annihilation is contraindicated. (author)

  12. Typing of Typhoidal Salmonella Using Extraction of Water Soluble Whole Cell Proteins and Analysing by SDS-PAGE

    Directory of Open Access Journals (Sweden)

    R. Yousefi Mashouf

    2005-10-01

    Full Text Available Introduction & Objective : Salmonella is one of the most important genus of Enterobacteriacea family. The aim of this study was typing of typhoidal Salmonella by SDS-PAGE and comparing the results with those of serotyping method.Materials and Methods: In this study, 4 reference strains of Salmonella species, 5 reference strains of Enterobacteriacea family and 100 clinical isolates of Salmonella that were previously collected from laboratories of Hamadan medical centers were studied. Serotyping of strains were performed by Biomereux and Difco monovalent antisera. Whole-cell proteins of strains were also separated on 10% poly acrylamide gel. Gels were stained by Coomassie Brilliant Blue and analyzed by densitometry. Results: Of 100 cases of Salmonella species, 43 cases (43% were S. typhi, 20 cases (20% were S. typhymurium, 12 cases (12% were S. para typhi B, 10 cases (10% were S. para typhi C, S. para typhi A 1 case (1% and other cases were non-typhoidal Salmonella. The results of serotyping were compared with the results obtained by SDS-PAGE. Many protein bands from 220 KDa to 18.5 KDa were detected by SDS-PAGE and they were used to differentiate the strains. S. typhi serotypes were divided into 5 sub-species and S. para typhi B and C were divided each into 3 sub-species. Protein profiles of the reference strains of Salmonella were compared with protein profiles of Enterobacteriaceae species and showed some differences in major protein bands, however, they had a very similar protein band in 43 KDa area. Conclusion: Since our data was able to divide Salmonella species to sub-types and differentiate them from Enterobacteriacea species, we concluded that analsying SDS-PAGE profile of water soluble whole-cell proteins can be used for typing of these organisms and it is comparble with serotyping, nevertheless, further researches are needed to establish SDS-PAGE method and to replace it with serotyping method.

  13. Quantification of major allergen parvalbumin in 22 species of fish by SDS-PAGE.

    Science.gov (United States)

    Kobayashi, Yukihiro; Yang, Tao; Yu, Cheng-Tao; Ume, Chiaki; Kubota, Hiroyuki; Shimakura, Kuniyoshi; Shiomi, Kazuo; Hamada-Sato, Naoko

    2016-03-01

    Fish is an important causative material of food allergy. Although the allergenicity of fish is considered to correlate with the content of parvalbumin, the major fish allergen, available information about the parvalbumin content in fish is limited. In this study, a simple and reliable quantification method for fish parvalbumin by SDS-PAGE was first established. Application of the SDS-PAGE method to 22 species of fish revealed a marked variation in parvalbumin content among fish. Furthermore, the parvalbumin content was found to be higher in dorsal white muscle than in ventral white muscle, in rostral part of white muscle than in caudal part of white muscle and in white muscle than in dark muscle. IgE reactivity of fish was roughly proportional to parvalbumin content. Interestingly, large-sized migratory fish, such as salmon, swordfish and tuna, were commonly very low in both parvalbumin content and IgE reactivity. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Analysis of the axial filaments of Treponema hyodysenteriae by SDS-PAGE and immunoblotting.

    Science.gov (United States)

    Kent, K A; Sellwood, R; Lemcke, R M; Burrows, M R; Lysons, R J

    1989-06-01

    Purified axial filaments from eight serotypes of Treponema hyodysenteriae and two non-pathogenic intestinal spirochaetes were characterized by SDS-PAGE and Western blotting. Axial filaments of all ten strains had similar SDS-PAGE profiles; five major axial filament polypeptides were identified, with molecular masses of 43.8, 38, 34.8, 32.8 and 29.4 kDa. Hyperimmune gnotobiotic pig serum raised against purified axial filaments of strain P18A (serotype 4) cross-reacted with all other serotypes and with the non-pathogens, and convalescent serum taken from a pig with persistent swine dysentery also showed a strong response to the axial filament polypeptides. Hyperimmune gnotobiotic pig serum raised against axial filaments failed to agglutinate viable organisms and did not inhibit growth in vitro. Hence, the axial filaments of T. hyodysenteriae have been identified as major immunodominant antigens, although the role that antibodies to these antigens play in protection has yet to be established.

  15. Nosocomial klebsiella infection in neonates in a tertiary care hospital: Protein profile by SDS-page and klebocin typing as epidemiological markers

    Directory of Open Access Journals (Sweden)

    Malik A

    2003-01-01

    Full Text Available PURPOSE: To find out the prevalence of Klebsiella in hospital acquired neonatal infections in a tertiary care set up and to evaluate the role of klebocin typing and protein profile by SDS-PAGE in epidemiological typing of the isolates. METHODS: Hospital born neonates transferred to the neonatal unit after birth and available in the unit 48 hours later comprised the study group. Two hundred and three neonates were found eligible for inclusion in the study. Repeated blood cultures, other relevant clinical specimens and environmental samples were collected and identified according to the standard techniques. Isolated clinical and environmental Klebsiella pneumoniae strains were subjected to klebocin typing and protein profiling by SDS-PAGE at regular intervals. RESULTS: Multi drug resistant K. pneumoniae were the commonest organism isolated in 30 neonates leading to the incidence of Klebsiella nosocomial infection to be 14.7%. Klebocin typing of the K. pneumoniae isolates showed four patterns with type 312 being the commonest (43.4%. Whole cell protein analysis by SDS-PAGE of K. pneumoniae isolates revealed four types of banding pattern. Analysis of the typing method showed that the typeability and reproducibility of klebocin was 83.3% and 73.3% respectively whereas typeability and reproducibility of SDS-PAGE was 100%. CONCLUSIONS: Based on the present study it is concluded that SDS-PAGE typing method is better than klebocin typing in neonatal nosocomial infection. It is also suggested that protein profile by SDS-PAGE may be used as a tool for epidemiological typing of Klebsiella pneumoniae isolates in laboratories where genomic based molecular typing technique is not available.

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

    Science.gov (United States)

    Mitchell, Bruce L.

    2007-01-01

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

  17. Analysis of Wolsong-1 SDS1 Effectiveness with Stuck-In Shutoff Rod Core Configurations

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyung Jin; Jung, Young Suk; Choi, Seong Soo [Atomic Creative Technology Co., Ltd., Daejeon (Korea, Republic of); Kim, Sung Min [Korea Hydro and Nuclear Power Co., Ltd., Seoul (Korea, Republic of)

    2010-05-15

    The Wolsong-1 CANDU 6 reactor (W-1) is currently undergoing the major refurbishment project including replacement of the pressure tube after nearly 25 years of service. In parallel to the refurbishment, the reactor is planned to be operated with Improved Technical Specifications (ITS) that are being prepared as an integrated part of the new project to conduct the overall Improved Standard Technical Specifications (ISTS) layout for PHWR (Ref. 1). The ISTS project is dually purported, namely, firstly, to improve and update the existing Current Technical Specifications (CTS) with the specific emphasis of rooting the conceptual and practical applications that are derived out of the PWR oriented TS so that PHWR could be operated in more closely surveillant practices with PWR domestically, and secondly, the finished ISTS product could also be exposed overseas for global marketing purposes. During the course of reviewing the draft version of the W-1 ITS it is felt that ITS Items related to the unavailability of Shutdown System No. 1 (SDS1) should be supported with some detailed analysis performed by using the safety analysis codes as a precautionary measure. The present paper deals with the cases of SDS1 shutoff rod (SOR) stuck into the core so that the stuck rod will not be available when SDS1 is actuated to drop rods into the core. In the following, the models used for the simulations are briefly described and the corresponding results are presented with some conclusions.

  18. Investigating the spontaneous formation of SDS micelle in aqueous solution using a coarse-grained force field

    Directory of Open Access Journals (Sweden)

    José Maria Pires

    2012-01-01

    Full Text Available A 1µs Molecular Dynamic simulation was performed with a realistic model system of Sodium Dodecyl Sulfate (SDS micelles in aqueous solution, comprising of 360 DS-, 360 Na+ and 90000 water particles. After 300 ns three different micellar shapes and sizes 41, 68 and 95 monomers, were observed. The process led to stabilization in the total number of SDS clusters and an increase in the micellar radius to 2.23 nm, in agreement with experimental results. An important conclusion, is be aware that simulations employed in one aggregate, should be considered as a constraint. Size and shape distribution must be analyzed.

  19. Prevention and Management of Refeeding Syndrome

    OpenAIRE

    Andika Indrarespati; Kaka Renaldi

    2016-01-01

    Refeeding Syndrome is a syndrome which occurs as a result of food administration in poorly nourished individuals. In this syndrome, there are wide range of biochemical alterations, clinical manifestations, and complications, starting from mild (asymptomatic) to severe (death). This syndrome was initially proposed in 1950s; however, there is still no agreement for its clear definition, causing clinicians to be less aware and tend to overlook this condition. Clinical manifestations which usuall...

  20. X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

    Science.gov (United States)

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J.; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H.; Bours, Vincent; Liu, Pengfei; De Herder, Wouter; Pellegata, Natalia; Lupski, James R.; Daly, Adrian F.; Stratakis, Constantine A.

    2015-01-01

    X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in 2 families was dominant with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2–3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight SDS score of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF-1 and prolactin, usually due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high somatostatin receptor subtype-2 expression in tumor tissue. Postoperative adjuvant pegvisomant achieved control of IGF-1 all 5 cases in which it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. PMID:25712922

  1. Using Two Different Self-Directed Search (SDS) Interpretive Materials: Implications for Career Assessment

    Science.gov (United States)

    Dozier, V. Casey; Sampson, James P.; Reardon, Robert C.

    2013-01-01

    John Holland's Self-Directed Search (SDS) is a career assessment that consists of several booklets designed to be self-scored and self-administered. It simulates what a practitioner and an individual might do together in a career counseling session (e.g., review preferred activities and occupations; review competencies, abilities and possible…

  2. Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

    Science.gov (United States)

    Byard, Roger W

    2016-05-01

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

  3. Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

    DEFF Research Database (Denmark)

    Nunn, Laurence M; Lopes, Luis R; Syrris, Petros

    2016-01-01

    AIMS: The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing has the potential to improve this yield. The primary aim of this study is to examine the feasibility and diagnostic utility...... of targeted exome screening in SADS victims, utilizing familial clinical screening whenever possible. METHODS AND RESULTS: To determine the feasibility and diagnostic yield of targeted exome sequencing deoxyribonucleic acid (DNA) was isolated from 59 SADS victims (mean age 25 years, range 1-51 years...... previously published rare (0.02-0.5%) candidate mutations-a total yield of 29%. Co-segregation fully confirmed two private SCN5A Na channel mutations. Variants of unknown significance were detected in a further 34% of probands. CONCLUSION: Molecular autopsy using targeted exome sequencing has a relatively...

  4. KAROSHI (WORK TO DEATH

    Directory of Open Access Journals (Sweden)

    Moh. Toriqul Chaer

    2017-05-01

    Full Text Available When the tide of unemployment hit the USA and Europe, in Japan the opposite phenomenon occurs. In 2002, in Japan deaths were recorded because of excessive works. In this country, the phenomenon of death because of excessive works is called Karoshi. Karoshi is common in Japan.  It becomes deadly syndrome as a consequence of long hours works. The debate about deaths from excessive work already sticking out in Japan since the 70s. The first official case of Karoshi was reported in 1969 when a 29-year-old male worker died because of stroke. It is estimated over ten thousand workers died each year due to death by brain and stroke caused by an overload work. Karoshi often happen to male workers dominantly. The main cause of karoshi is stress due to high pressure in the work environment, and work habits of exceeding a  standard of normal working time (8 hours. In addition, their extra time to work is imbalance with and the salary they earn. In its development, the phenomenon of karoshi contributes to the term salaryman and workaholic.

  5. Facial and Ocular Features of Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Juan C. Leoni

    2014-10-01

    Full Text Available Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and rupture remains a major cause of death in patients with unrecognized Marfan syndrome. Echocardiography is recommended as the initial imaging test, and once a dilated aortic root is identified magnetic resonance or computed tomography should be done to assess the entire aorta. Prophylactic aortic root replacement is safe and has been demonstrated to improve life expectancy in patients with Marfan syndrome. Medical therapy for Marfan syndrome includes the use of beta blockers in older children and adults with an enlarged aorta. Addition of angiotensin receptor antagonists has been shown to slow the progression of aortic root dilation compared to beta blockers alone. Lifelong and regular follow up in a center for specialized care is important for patients with Marfan syndrome. We present a case of a patient with clinical features of Marfan syndrome and discuss possible therapeutic interventions for her dilated aorta.

  6. Genetic testing to predict sudden cardiac death: current perspectives and future goals

    Directory of Open Access Journals (Sweden)

    Silvia G. Priori

    2014-01-01

    Full Text Available It is known that monogenic traits may predispose young and otherwise healthy individuals to die suddenly. Diseases such as Long QT Syndrome, Brugada Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy are well known causes of arrhythmic death in young individuals. For several years the concept of “genetic predisposition” to sudden cardiac death has been limited to these uncommon diseases. In the last few years clinical data have supported the view that risk of dying suddenly may cluster in families, supporting the hypothesis of a genetic component for sudden cardiac death. In this review I will try to provide an overview of current knowledge about genetics of sudden death. I will approach this topic by discussing first where we stand in the use of genetics for risk stratification and therapy selection in monogenic diseases and I will then move to discuss the contribution of genetics to patient profiling in acquired cardiovascular diseases.

  7. Lack of Population Structure in Coriander Populations Based on SDS (Seed Storage Protein Page Analysis

    Directory of Open Access Journals (Sweden)

    Gülsüm Yaldiz

    2016-08-01

    Full Text Available Genetic variation is prerequisite for plant breeding. Nothing information existed in the literature for available diversity of Coriander accession in Turkey. Plant breeding activities are negligible in Turkey. So in order to start effective plant breeding program in Turkey, information on the available genetic diversity is viable. Therefore we planned to study the genetic variation and population structure of 29 Coriander accessions by seed storage protein (SDS. SDS analysis elaborated the lack of population structure and genetic bottleneck in the Coriander accessions in Turkey. Based on the results of this study, it was clear that sampling strategy was not appropriate and plant introduction should be made from different sources and diverse genotypes should be used as parents to initialize the effective Turkish Coriander breeding program.

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

    Directory of Open Access Journals (Sweden)

    Daniel H. De La Iglesia

    2018-03-01

    Full Text Available 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.

  9. Quantitative Sensory Testing in Patients With Postthoracotomy Pain Syndrome

    DEFF Research Database (Denmark)

    Wildgaard, Kim; Ringsted, Thomas K; Kehlet, Henrik

    2013-01-01

    -retest variability of thermal thresholds in patients (n=14) with the postthoracotomy pain syndrome. METHODS:: Sensory mapping with a metal roller (25°C) on the surgical side delineated an area with cool sensory dysfunction. In this area and in a contralateral area, 4 prespecified sites (2.6 cm) were outlined...... was demonstrated, the much lower within-patient than between-patient variances facilitated estimations of highly statistical significant, within-patient differences in thermal thresholds. DISCUSSION:: In patients with postthoracotomy pain syndrome, several statistical methods indicated an excessively high......, in addition to the maximum pain site on the surgical side. In these total 9 sites, warmth detection threshold, cool detection threshold, and heat pain threshold were assessed. RESULTS:: Comparisons of thermal test-retest assessments did not demonstrate any significant intraside differences. The SDs...

  10. Febrile seizures prior to sudden cardiac death

    DEFF Research Database (Denmark)

    Stampe, Niels Kjær; Glinge, Charlotte; Jabbari, Reza

    2018-01-01

    Aims: Febrile seizure (FS) is a common disorder affecting 2-5% of children up to 5 years of age. The aim of this study was to determine whether FS in early childhood are over-represented in young adults dying from sudden cardiac death (SCD). Methods and results: We included all deaths (n = 4595...... with FS was sudden arrhythmic death syndrome (5/8; 62.5%). Conclusion: In conclusion, this study demonstrates a significantly two-fold increase in the frequency of FS prior to death in young SCD cases compared with the two control groups, suggesting that FS could potentially contribute in a risk......) nationwide and through review of all death certificates, we identified 245 SCD in Danes aged 1-30 years in 2000-09. Through the usage of nationwide registries, we identified all persons admitted with first FS among SCD cases (14/245; 5.7%) and in the corresponding living Danish population (71 027/2 369 785...

  11. Suggested cut-off values for vitamin D as a risk marker for total and cardiac death in patients with suspected acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Patrycja Anna Naesgaard

    2016-02-01

    Full Text Available Background: Several studies have demonstrated an association between low vitamin D levels and cardiovascular risk. Vitamin D cut off levels are still under debate. Objectives: To assess two cut-off levels, 40 nmol/L and 70 nmol/L, respectively, for vitamin D measured as 25-hydroxyvitamin D [25(OHD] in chest pain patients with suspected acute coronary syndrome.Methods: We investigated 1853 patients from coastal-Norway and inland Northern-Argentina. A similar database was used for pooling of data. 2-year follow-up data including all-cause mortality, cardiac death and sudden cardiac death in the total patient population were analyzed, applying univariate and multivariable analysis. Results: 255 patients with known vitamin D concentrations died. In the multivariable analysis, there was a decrease in total mortality above a cut-off level of 40 nmol/L and a decrease in cardiac death above a cut-off level of 70 nmol/L, [HRs of 0.66 (95% CI, 0.50 – 0.88, p = 0.004 and 0.46 (95% CI, 0.22 – 0.94, p = 0.034, respectively].Conclusion: Vitamin D cut-off levels of 40 nmol/L and 70 nmol/L, were related to total mortality and cardiac death, respectively.

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

    Directory of Open Access Journals (Sweden)

    Paul Walsh

    2014-03-01

    Full Text Available 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.

  13. Prostate cancer, prostate cancer death, and death from other causes, among men with metabolic aberrations.

    Science.gov (United States)

    Häggström, Christel; Stocks, Tanja; Nagel, Gabriele; Manjer, Jonas; Bjørge, Tone; Hallmans, Göran; Engeland, Anders; Ulmer, Hanno; Lindkvist, Björn; Selmer, Randi; Concin, Hans; Tretli, Steinar; Jonsson, Håkan; Stattin, Pär

    2014-11-01

    Few previous studies of metabolic aberrations and prostate cancer risk have taken into account the fact that men with metabolic aberrations have an increased risk of death from causes other than prostate cancer. The aim of this study was to calculate, in a real-life scenario, the risk of prostate cancer diagnosis, prostate cancer death, and death from other causes. In the Metabolic Syndrome and Cancer Project, prospective data on body mass index, blood pressure, glucose, cholesterol, and triglycerides were collected from 285,040 men. Risks of prostate cancer diagnosis, prostate cancer death, and death from other causes were calculated by use of competing risk analysis for men with normal (bottom 84%) and high (top 16%) levels of each factor, and a composite score. During a mean follow-up period of 12 years, 5,893 men were diagnosed with prostate cancer, 1,013 died of prostate cancer, and 26,328 died of other causes. After 1996, when prostate-specific antigen testing was introduced, men up to age 80 years with normal metabolic levels had 13% risk of prostate cancer, 2% risk of prostate cancer death, and 30% risk of death from other causes, whereas men with metabolic aberrations had corresponding risks of 11%, 2%, and 44%. In contrast to recent studies using conventional survival analysis, in a real-world scenario taking risk of competing events into account, men with metabolic aberrations had lower risk of prostate cancer diagnosis, similar risk of prostate cancer death, and substantially higher risk of death from other causes compared with men who had normal metabolic levels.

  14. Holland's SDS Applied to Chinese College Students: A Revisit to Cross-Culture Adaptation

    Science.gov (United States)

    Kong, Jin; Xu, Yonghong Jade; Zhang, Hao

    2016-01-01

    In this study, data collected from 875 college freshman and sophomore students enrolled in a 4-year university in central China are used to examine the applicability and validity of a Chinese version of Holland's Self-Directed Search (SDS) that was adapted in the 1990s. The total sample was randomly divided into two groups. Data from the first…

  15. Interactions of infectious symptoms and modifiable risk factors in sudden infant death syndrome. The Nordic Epidemiological SIDS study

    DEFF Research Database (Denmark)

    Helweg-Larsen, K; Banner, Jytte; Oyen, N

    1999-01-01

    The aim of the study was to investigate the effect of infection on sudden infant death syndrome (SIDS) and to analyse whether modifiable risk factors of SIDS, prone sleeping, covered head and smoking act as effect modifiers. In a consecutive multicentre case-control study of SIDS in Denmark, Norway...... regression. Significantly more cases than controls presenting symptoms of infectious diseases during the last week and/or last day were treated with antibiotics and had been seen by a physician. The finding is consistent with the hypothesis of an infectious mechanism in SIDS induced by local microorganism......, prone sleeping, head covered or parental smoking, was far greater than the sum of each individual factor. These risk factors thus modify the dangerousness of infection in infancy....

  16. Long-term survival and causes of death in patients with ST-elevation acute coronary syndrome without obstructive coronary artery disease.

    Science.gov (United States)

    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

    2018-01-07

    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 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: journals.permissions@oup.com.

  17. The Bentall procedure in patients with Marfan's syndrome.

    Science.gov (United States)

    Nguyen, K H; Ergin, M A; Galla, J D; Lansman, S L; McCullough, J N; Griepp, R B

    1997-01-01

    From 1985 to 1996, 18 patients with Marfan's syndrome underwent the Bentall procedure at Mount Sinai Hospital. They are compared with 38 patients aged Marfan's syndrome who also underwent composite valve-graft replacement of the ascending aorta. The mean age of the non-Marfan group was 33 while that of the Marfan group was 29. Nearly three-quarters of each group were male. Aortic dissection was present in 33% of the Marfan group but only in 18% of the other group. Seventy-eight percent of the Marfan patients and 89% of the non-Marfan patients had aortic regurgitation. Twenty-one percent of the patients in the control group nevertheless had gross aortic pathology suggestive of Marfan's syndrome and may have had variants of the syndrome; 26% of the non-Marfan group had a bicuspid aortic valve. A modification of the Bentall procedure with implantation of coronary artery buttons was performed in the majority of the patients in both groups. Three patients, all in the group with Marfan's syndrome, required a concomitant mitral valve procedure. There was one death in each group. Two non-Marfan patients required reoperation; neither had dissection. Four patients with Marfan's syndrome underwent reoperation for distal disease in the aorta; they comprised one third of the Marfan patients who had aortic dissection. Three late complications occurred in the group with Marfan's syndrome: progressive cardiomyopathy; myocardial infarction; and late tamponade. There were also two late sudden deaths in the group with Marfan's syndrome, which may have been the consequence of aortic rupture. No difference in immediate operative mortality following the Bentall procedure was noted between patients with and without Marfan's syndrome, but young patients without Marfan's syndrome seem to have better event-free and long-term survival. In patients with Marfan's syndrome, the presence of acute dissection makes reoperation more likely, and sudden death from rupture still occurs despite careful

  18. Analysis of preventability of hypertensive disorder in pregnancy-related maternal death using the nationwide registration system of maternal deaths in Japan.

    Science.gov (United States)

    Katsuragi, Shinji; Tanaka, Hiroaki; Hasegawa, Junichi; Nakamura, Masamitsu; Kanayama, Naohiro; Nakata, Masahiko; Murakoshi, Takeshi; Yoshimatsu, Jun; Osato, Kazuhiro; Tanaka, Kayo; Sekizawa, Akihiko; Ishiwata, Isamu; Ikeda, Tomoaki

    2018-04-26

    Hypertensive disorder of pregnancy (HDP) is a major cause of maternal death. The goal of this study was to investigate factors associated with maternal death due to HDP. HDP-related maternal deaths in Japan reported to the Committee of the Ministry of Health, Labor and Welfare from 2010 to 2015 were examined. Out of 47 cases of HDP, 30 were identified as the major cause of maternal death. The median maternal age was 34 years (range 24-45) and the mortality in women aged ≥40 years was seven times higher that than in women aged deaths in Japan. Mothers aged ≥40 years are most at risk for HDP-related maternal death. Major concerns for preventabilities were late hospitalization, maternal transportation, and termination of pregnancy for term or near-term HDP. Regular vital checks and prompt lowering of BP were lacked during labor in most cases. HELLP syndrome should be managed at a general hospital with sufficient medical resources.

  19. Serum albumin is an important prognostic factor for carotid blowout syndrome

    International Nuclear Information System (INIS)

    Lu Hsuehju; Chen Kuowei; Chen Minghuang; Tzeng Chenghwai; Chang Peter Muhsin; Yang Muhhwa; Chu Penyuan; Tai Shyhkuan

    2013-01-01

    Carotid blowout syndrome is a severe complication of head and neck cancer. High mortality and major neurologic morbidity are associated with carotid blowout syndrome with massive bleeding. Prediction of outcomes for carotid blowout syndrome patients is important for clinicians, especially for patients with the risk of massive bleeding. Between 1 January 2001 and 31 December 2011, 103 patients with carotid blowout syndrome were enrolled in this study. The patients were divided into groups with and without massive bleeding. Prognostic factors were analysed with proportional hazard (Cox) regressions for carotid blowout syndrome-related prognoses. Survival analyses were based on the time from diagnosis of carotid blowout syndrome to massive bleeding and death. Patients with massive bleeding were more likely to have hypoalbuminemia (albumin 1000 cells/μl, P=0.041) and hypoalbuminemia (P=0.010) were important to prognosis. Concurrent chemoradiotherapy (P=0.007), elevated lactate dehydrogenase (>250 U/l; P=0.050), local recurrence (P=0.022) and hypoalbuminemia (P=0.038) were related to poor prognosis in carotid blowout syndrome-related death. In multivariate analysis, best supportive care and hypoalbuminemia were independent factors for both carotid blowout syndrome-related massive bleeding (P=0.000) and carotid blowout syndrome-related death (P=0.013), respectively. Best supportive care and serum albumin are important prognostic factors in carotid blowout syndrome. It helps clinicians to evaluate and provide better supportive care for these patients. (author)

  20. Functional characterization of a novel hERG variant in a family with recurrent sudden infant death syndrome: Retracting a genetic diagnosis.

    Science.gov (United States)

    Sergeev, Valentine; Perry, Frances; Roston, Thomas M; Sanatani, Shubhayan; Tibbits, Glen F; Claydon, Thomas W

    2018-03-01

    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.

  1. Study of the Different Kinds of Pilose Antler Protein Differentiation by SDS-PAGE Gel%SDS-PAGE凝胶电泳法对不同种鹿茸蛋白质差异化研究

    Institute of Scientific and Technical Information of China (English)

    朱云飞; 初正云; 李洪江

    2017-01-01

    Objective:To study the protein differences of pilose antler pieces of China pharmacopoeia (CP) and its adulterants in market by using electrophoresis method and provide research basis for immunological identification technology of pilose antler.Methods:The velvet antler protein was extracted by the protein solution method,bovine serum protein was used as a control,determination of the concentration of water soluble protein determination of pilose antler by Bradford method,analysis of flower antler,red deer,New Zealand red deer and reindeer protein differences by SDS-PAGE gel electrophoresis method.Results:With 7.5% separation gel system to separate flower antler,New Zealand deer,red deer and reindeer water soluble protein,and four protein bands were in difference.Conclusion:The SDS-PAGE gel electrophoresis was used to examine the differences in protein between the different varieties of pilose antler and provide basis and research foundation for qualitative research of different varieties of pilose antler.%目的:利用电泳方法研究市场上药典规定品种的鹿茸饮片及其混淆品中蛋白质的差异,为鹿茸的免疫鉴定技术研究提供研究依据.方法:采用蛋白溶解液法提取各鹿茸蛋白,以牛血清蛋白为对照,利用Bradford法测定鹿茸水溶性蛋白的浓度,利用SDS-PAGE凝胶电泳法分析花鹿茸、马鹿、新西兰赤鹿及驯鹿的蛋白差异.结果:用7.5%分离胶系统分离花鹿茸、新西兰马鹿、马鹿及驯鹿的水溶性蛋白,四者蛋白条带有差异.结论:利用SDS-PAGE凝胶电泳法考察不同品种鹿茸的蛋白差异,为不同品种鹿茸的定性研究提供依据和研究基础.

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

    DEFF Research Database (Denmark)

    Rohde, Marianne Cathrine; Corydon, Thomas Juhl; Hansen, Jakob

    2013-01-01

    The aim of the present study was to investigate stress gene expression in cultured primary fibroblasts established from Achilles tendons collected during autopsies from sudden infant death syndrome (SIDS) cases, and age-matched controls (infants dying in a traumatic event). Expression of 4 stress...... responsive genes, HSPA1B, HSPD1, HMOX1, and SOD2, was studied by quantitative reverse transcriptase PCR analysis of RNA purified from cells cultured under standard or various thermal stress conditions. The expression of all 4 genes was highly influenced by thermal stress in both SIDS and control cells. High...... interpersonal variance found in the SIDS group indicated that they represented a more heterogeneous group than controls. The SIDS group responded to thermal stress with a higher expression of the HSPA1B and HSPD1 genes compared to the control group, whereas no significant difference was observed...

  3. Early neonatal deaths associated with perinatal asphyxia in infants ≥2500 g in Brazil,

    Directory of Open Access Journals (Sweden)

    Maria Fernanda Branco de Almeida

    Full Text Available Abstract Objective: To assess the annual burden of early neonatal deaths associated with perinatal asphyxia in infants weighing ≥2500 g in Brazil from 2005 to 2010. Methods: The population study enrolled all live births of infants with birth weight ≥2500 g and without malformations who died up to six days after birth with perinatal asphyxia, defined as intrauterine hypoxia, asphyxia at birth, or meconium aspiration syndrome. The cause of death was written in any field of the death certificate, according to International Classification of Diseases,10th Revision (P20.0, P21.0, and P24.0. An active search was performed in 27 Brazilian federative units. The chi-squared test for trend was applied to analyze early neonatal mortality ratios associated with perinatal asphyxia by study year. Results: A total of 10,675 infants weighing ≥2500 g without malformations died within six days after birth with perinatal asphyxia. Deaths occurred in the first 24 h after birth in 71% of the infants. Meconium aspiration syndrome was reported in 4076 (38% of these deaths. The asphyxia-specific early neonatal mortality ratio decreased from 0.81 in 2005 to 0.65 per 1000 live births in 2010 in Brazil (p < 0.001; the meconium aspiration syndrome-specific early neonatal mortality ratio remained between 0.20 and 0.29 per 1000 live births during the study period. Conclusions: Despite the decreasing rates in Brazil from 2005 to 2010, early neonatal mortality rates associated with perinatal asphyxia in infants in the better spectrum of birth weight and without congenital malformations are still high, and meconium aspiration syndrome plays a major role.

  4. Amnioinfusion for the prevention of the meconium aspiration syndrome.

    Science.gov (United States)

    Fraser, William D; Hofmeyr, Justus; Lede, Roberto; Faron, Gilles; Alexander, Sophie; Goffinet, François; Ohlsson, Arne; Goulet, Céline; Turcot-Lemay, Lucile; Prendiville, Walter; Marcoux, Sylvie; Laperrière, Louise; Roy, Chantal; Petrou, Stavros; Xu, Hai-Rong; Wei, Bin

    2005-09-01

    It is uncertain whether amnioinfusion (infusion of saline into the amniotic cavity) in women who have thick meconium staining of the amniotic fluid reduces the risk of perinatal death, moderate or severe meconium aspiration syndrome, or both. We performed a multicenter trial in which 1998 pregnant women in labor at 36 or more weeks of gestation who had thick meconium staining of the amniotic fluid were stratified according to the presence or absence of variable decelerations in fetal heart rate and then randomly assigned to amnioinfusion or to standard care. The composite primary outcome measure was perinatal death, moderate or severe meconium aspiration syndrome, or both. Perinatal death, moderate or severe meconium aspiration syndrome, or both occurred in 44 infants (4.5 percent) of women in the amnioinfusion group and 35 infants (3.5 percent) of women in the control group (relative risk, 1.26; 95 percent confidence interval, 0.82 to 1.95). Five perinatal deaths occurred in the amnioinfusion group and five in the control group. The rate of cesarean delivery was 31.8 percent in the amnioinfusion group and 29.0 percent in the control group (relative risk, 1.10; 95 percent confidence interval, 0.96 to 1.25). For women in labor who have thick meconium staining of the amniotic fluid, amnioinfusion did not reduce the risk of moderate or severe meconium aspiration syndrome, perinatal death, or other major maternal or neonatal disorders. Copyright 2005 Massachusetts Medical Society.

  5. Halloysite Nanotubes Noncovalently Functionalised with SDS Anionic Surfactant and PS-b-P4VP Block Copolymer for Their Effective Dispersion in Polystyrene as UV-Blocking Nanocomposite Films

    Directory of Open Access Journals (Sweden)

    Lazaros Tzounis

    2017-01-01

    Full Text Available A simple and versatile method is reported for the noncovalent functionalisation of natural and “green” halloysite nanotubes (HNTs allowing their effective dispersion in a polystyrene (PS thermoplastic matrix via solvent mixing. Initially, HNTs (pristine HNTs were modified with physically adsorbed surfactant molecules of sodium dodecyl sulphate (SDS and PS-b-P4VP [P4VP: poly(4-vinylpyridine] block copolymer (BCP. Hereafter, SDS and BCP modified HNTs will be indicated as SDS-m-HNT and BCP-m-HNT. Nanocomposite films with 1, 2, and 5 wt.% HNT loadings were prepared, abbreviated as PS-SDS-m-HNT1, PS-SDS-m-HNT2, and PS-SDS-m-HNT5 and PS-BCP-m-HNT1, PS-BCP-m-HNT2, and PS-BCP-m-HNT5 (where 1, 2, and 5 correspond to the wt.% of HNTs. All nanocomposites depicted improved thermal degradation compared to the neat PS as revealed by thermogravimetric analysis (TGA. Transmission electron microscopy (TEM confirmed the good dispersion state of HNTs and the importance of modification by SDS and BCP. X-ray diffraction (XRD studies showed the characteristic interlayer spacing between the two silicate layers of pristine and modified HNTs. The PS/HNT nanocomposite films exhibited excellent ultraviolent-visible (UV-vis absorbance properties and their potential application as UV-filters could be envisaged.

  6. The NPOESS Preparatory Project Science Data Segment (SDS) Data Depository and Distribution Element (SD3E) System Architecture

    Science.gov (United States)

    Ho, Evelyn L.; Schweiss, Robert J.

    2008-01-01

    The National Polar-orbiting Operational Environmental Satellite System (NPOESS) Preparatory Project (NPP) Science Data Segment (SDS) will make daily data requests for approximately six terabytes of NPP science products for each of its six environmental assessment elements from the operational data providers. As a result, issues associated with duplicate data requests, data transfers of large volumes of diverse products, and data transfer failures raised concerns with respect to the network traffic and bandwidth consumption. The NPP SDS Data Depository and Distribution Element (SD3E) was developed to provide a mechanism for efficient data exchange, alleviate duplicate network traffic, and reduce operational costs.

  7. Electrophoretic analysis of proteins from Mycoplasma hominis strains detected by SDS-PAGE, two-dimensional gel electrophoresis and immunoblotting

    DEFF Research Database (Denmark)

    Andersen, H; Birkelund, Svend; Christiansen, Gunna

    1987-01-01

    The proteins of 14 strains of Mycoplasma hominis were compared by SDS-PAGE in gradient gels, by two-dimensional (2D) gel electrophoresis of extracts of 35S-labelled cells and by immunoblot analysis of cell proteins. The strains examined included the M. hominis type strain PG21 and 13 others...... isolated variously from genital tract, mouth, blood, upper urinary tract and a wound. These 14 strains shared 76-99% of proteins in SDS-gradient gel analysis and 41-72% in the 2D gels. As expected, the immunoblot analysis likewise revealed the existence of an extensive common protein pattern in M. hominis...

  8. [Maternal deaths due to infectious cause, results from the French confidential enquiry into maternal deaths, 2010-2012].

    Science.gov (United States)

    Rigouzzo, A; Tessier, V; Zieleskiewicz, L

    2017-12-01

    Over the period 2010-2012, maternal mortality from infectious causes accounted for 5% of maternal deaths by direct causes and 16% of maternal deaths by indirect causes. Among the 22 deaths caused by infection occurred during this period, 6 deaths were attributed to direct causes from genital tract origin, confirming thus the decrease in direct maternal deaths by infection during the last ten years. On the contrary, indirect maternal deaths by infection, from extragenital origin, doubled during the same period, with 16 deaths in the last triennium, dominated by winter respiratory infections, particularly influenza: the 2009-2010 influenza A (H1N1) virus pandemic was the leading cause of indirect maternal mortality by infection during the studied period. The main infectious agents involved in maternal deaths from direct causes were Streptococcus A, Escherichia Coli and Clostridium perfringens: these bacterias were responsible for toxic shock syndrome, severe sepsis, secondary in some cases to cellulitis or necrotizing fasciitis. Of the 6 deaths due to direct infection, 4 were considered avoidable because of inadequate management: delayed or missed diagnosis, delayed or inadequate initiation of a specific medical and/or surgical treatment. Of the 16 indirect maternal deaths due to infection causes, the most often involved infectious agents were influenza A (H1N1) virus and Streptococcus pneumonia with induced purpura fulminans: the absence of influenza vaccination during pregnancy, delayed diagnosis and emergency initiation of a specific treatment, were the main contributory factors to these deaths and their avoidability in 70% of the cases analyzed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  9. Cannabis, possible cardiac deaths and the coroner in Ireland.

    LENUS (Irish Health Repository)

    Tormey, W P

    2012-01-10

    BACKGROUND: The elevated risk of triggering a myocardial infarction by smoking cannabis is limited to the first 2 h after smoking. AIM: To examine the possible role of cannabis in cardiac deaths. CASES AND RESULTS: From 3,193 coroners\\' cases over 2 years, there were 13 cases where the clinical information was compatible with a primary cardiac cause of death. An inquest was held in three cases. Myocardial infarction was the primary cause of death in 54%. Other causes were sudden adult death syndrome, sudden death in epilepsy, and poisoning by alcohol and diazepam. Cannabis was mentioned once only on a death certificate, but not as a cause of death. Blood delta9-tetrahydrocannabinol-carboxylic acid was recorded in one case and in no case was plasma tetrahydrocannabinol (THC) measured. CONCLUSIONS: To attribute sudden cardiac death to cannabis, plasma THC should be measured in the toxicology screen in coroners\\' cases where urine cannabinoids are positive. A positive urine cannabinoids immunoassay alone is insufficient evidence in the linkage of acute cardiac death and cannabis.

  10. Cannabis, possible cardiac deaths and the coroner in Ireland.

    Science.gov (United States)

    Tormey, W P

    2012-12-01

    The elevated risk of triggering a myocardial infarction by smoking cannabis is limited to the first 2 h after smoking. To examine the possible role of cannabis in cardiac deaths. CASES AND RESULTS: From 3,193 coroners' cases over 2 years, there were 13 cases where the clinical information was compatible with a primary cardiac cause of death. An inquest was held in three cases. Myocardial infarction was the primary cause of death in 54%. Other causes were sudden adult death syndrome, sudden death in epilepsy, and poisoning by alcohol and diazepam. Cannabis was mentioned once only on a death certificate, but not as a cause of death. Blood delta9-tetrahydrocannabinol-carboxylic acid was recorded in one case and in no case was plasma tetrahydrocannabinol (THC) measured. To attribute sudden cardiac death to cannabis, plasma THC should be measured in the toxicology screen in coroners' cases where urine cannabinoids are positive. A positive urine cannabinoids immunoassay alone is insufficient evidence in the linkage of acute cardiac death and cannabis.

  11. Lab-on-a-chip and SDS-PAGE analysis of hemolymph protein profile from Rhipicephalus microplus (Acari: Ixodidae) infected with entomopathogenic nematode and fungus.

    Science.gov (United States)

    Golo, Patrícia Silva; Dos Santos, Alessa Siqueira de Oliveira; Monteiro, Caio Marcio Oliveira; Perinotto, Wendell Marcelo de Souza; Quinelato, Simone; Camargo, Mariana Guedes; de Sá, Fillipe Araujo; Angelo, Isabele da Costa; Martins, Marta Fonseca; Prata, Marcia Cristina de Azevedo; Bittencourt, Vânia Rita Elias Pinheiro

    2016-09-01

    In the present study, lab-on-a-chip electrophoresis (LoaC) was suggested as an alternative method to the conventional polyacrylamide gel electrophoresis under denaturing conditions (SDS-PAGE) to analyze raw cell-free tick hemolymph. Rhipicephalus microplus females were exposed to the entomopathogenic fungus Metarhizium anisopliae senso latu IBCB 116 strain and/or to the entomopathogenic nematode Heterorhabditis indica LPP1 strain. Hemolymph from not exposed or exposed ticks was collected 16 and 24 h after exposure and analyze by SDS-PAGE or LoaC. SDS-PAGE yielded 15 bands and LoaC electrophoresis 17 bands. Despite the differences in the number of bands, when the hemolymph protein profiles of exposed or unexposed ticks were compared in the same method, no suppressing or additional bands were detected among the treatments regardless the method (i.e., SDS-PAGE or chip electrophoresis using the Protein 230 Kit®). The potential of LoaC electrophoresis to detect protein bands from tick hemolymph was considered more efficient in comparison to the detection obtained using the traditional SDS-PAGE method, especially when it comes to protein subunits heavier than 100 KDa. LoaC electrophoresis provided a very good reproducibility, and is much faster than the conventional SDS-PAGE method, which requires several hours for one analysis. Despite both methods can be used to analyze tick hemolymph composition, LoaC was considered more suitable for cell-free hemolymph protein separation and detection. LoaC hemolymph band percent data reported changes in key proteins (i.e., HeLp and vitellogenin) exceptionally important for tick embryogenesis. This study reported, for the first time, tick hemolymph protein profile using LoaC.

  12. Persistent Delirium in Chronic Critical Illness as a Prodrome Syndrome before Death.

    Science.gov (United States)

    DeForest, Anna; Blinderman, Craig D

    2017-05-01

    Chronic critical illness (CCI) patients have poor functional outcomes, high risk of mortality, and significant sequelae, including delirium and cognitive dysfunction. The prognostic significance of persistent delirium in patients with CCI has not been well described. We report a case of a patient with CCI following major cardiac surgery who was hemodynamically stable following a long course in the cardiothoracic intensive care unit (CTICU), but had persistent and unremitting delirium. Despite both pharmacological and nonpharmacological approaches to improve his delirium, the patient ultimately continued to have symptoms of delirium and subsequently died in the CTICU. Efforts to reconsider the goals of care, given his family's understanding of his values, were met with resistance as his cardiothoracic surgeon believed that he had a reasonable chance of recovery since his organs were not in failure. This case description raises the question of whether we should consider persistent delirium as a prodrome syndrome before death in patients with CCI. Study and analysis of a case of a patient with CCI following major cardiothoracic surgery who was hemodynamically stable with persistent delirium. Further studies of the prevalence and outcomes of prolonged or persistent agitated delirium in patients with chronic critical illness are needed to provide prognostic information that can assist patients and families in receiving care that accords with their goals and values.

  13. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  14. The death of Alexander the Great--a spinal twist of fate.

    Science.gov (United States)

    Ashrafian, Hutan

    2004-06-01

    Alexander the Great died in 323 B.C. from an unknown cause. Physical depictions of this historical figure reveal the likelihood of a cervical scoliotic deformity. This is substantiated with the medical history and is correlated with his untimely death. For the first time, it is concluded that Alexander's death may have ensued from the sequelae of congenital scoliotic syndrome.

  15. Alagille syndrome case report: implications for forensic pathology and anthropology.

    Science.gov (United States)

    Petaros, Anja; Miletic, Damir; Stifter, Sanja; Slaus, Mario; Stemberga, Valter

    2015-05-01

    This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.

  16. Genetics Home Reference: congenital central hypoventilation syndrome

    Science.gov (United States)

    ... Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit ... BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr ...

  17. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

    Science.gov (United States)

    Ying, Yan-Qin; Wei, Hong; Cao, Li-Zhi; Lu, Juan-Juan; Luo, Xiao-Ping

    2007-08-01

    Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family. Their heights and weights were in the normal range at birth, but the growth was retarded after birth. When they presented to the clinic, the heights of the boy (8 years old) and his sister (11 years old) were 80.0 cm (-8.2 SDS) and 96.6 cm (-6.8 SDS) respectively. They had typical appearance features of Laron syndrome such as short stature and obesity, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice. They had higher basal serum GH levels and lower serum levels of IGF-I, IGFBP-3 and growth hormone binding protein (GHBP) than normal controls. The peak serum GH level after colonidine and insulin stimulations in the boy was over 350 ng/mL. After one-year rhGH treatment, the boy's height increased from 80.0 cm to 83.3 cm. The gene mutation analysis revealed that two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4, which is a novel gene mutation. It was concluded that a definite diagnosis of Laron syndrome can be made based on characteristic appearance features and serum levels of GH, IGF-I, IGFBP-3 and GHBP. The S65H mutation might be the cause of Laron syndrome in the two patients.

  18. Calculation of the negative reactivity inserted by the shutdown system number two (SDS2) of a CANDU reactor

    Energy Technology Data Exchange (ETDEWEB)

    Arsenault, B [Ecole Polytechnique, Montreal, PQ (Canada)

    1994-12-31

    The secondary shutdown system (SDS2) of a CANDU reactor consists of liquid poison injection through nozzles disposed horizontally across the core. The nominal concentration of gadolinium nitrate poison is 8000 ppm. With the methods available to the nuclear industry for calculating the negative reactivity inserted by the SDS2, some approximations are needed, and a simplified model of poison propagation has to be used to calculate the differential cross sections. The objective of this paper is to evaluate the errors introduced by the approximations in the supercell and core calculations. The MULTICELL and EXCELL codes gave different power distributions, and further work was recommended. 9 refs., 2 tabs., 4 figs.

  19. Sudden cardiac death in young athletes

    Directory of Open Access Journals (Sweden)

    Östman-Smith I

    2011-07-01

    Full Text Available Ingegerd Östman-SmithDivision of Paediatric Cardiology, Institute of Clinical Sciences, Sahlgrenska Academy, Gothenburg University, SwedenAbstract: Athletic activity is associated with an increased risk of sudden death for individuals with some congenital or acquired heart disorders. This review considers in particular the causes of death affecting athletes below 35 years of age. In this age group the largest proportion of deaths are caused by diseases with autosomal dominant inheritance such as hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, long QT-syndrome, and Marfan’s syndrome. A policy of early cascade-screening of all first-degree relatives of patients with these disorders will therefore detect a substantial number of individuals at risk. A strictly regulated system with preparticipation screening of all athletes following a protocol pioneered in Italy, including school-age children, can also detect cases caused by sporadic new mutations and has been shown to reduce excess mortality among athletes substantially. Recommendations for screening procedure are reviewed. It is concluded that ECG screening ought to be part of preparticipation screening, but using criteria that do not cause too many false positives among athletes. One such suggested protocol will show positive in approximately 5% of screened individuals, among whom many will be screened for these diseases. On this point further research is needed to define what kind of false-positive and false-negative rate these new criteria result in. A less formal system based on cascade-screening of relatives, education of coaches about suspicious symptoms, and preparticipation questionnaires used by athletic clubs, has been associated over time with a sizeable reduction in sudden cardiac deaths among Swedish athletes, and thus appears to be worth implementing even for junior athletes not recommended for formal preparticipation screening. It is strongly argued

  20. Optimization of conditions to extract high quality DNA for PCR analysis from whole blood using SDS-proteinase K method

    Directory of Open Access Journals (Sweden)

    Wajhul Qamar

    2017-11-01

    Full Text Available In case of studies associated with human genetics, genomics, and pharmacogenetics the genomic DNA is extracted from the buccal cells, whole blood etc. Several methods are exploited by the researchers to extract DNA from the whole blood. One of these methods, which utilizes cell lysis and proteolytic properties of sodium dodecyl sulfate (SDS and proteinase K respectively, might also be called SDS-PK method. It does not include any hazardous chemicals such as phenol or chloroform and is inexpensive. However, several researchers report the same method with different formulas and conditions. During our experiments with whole blood DNA extraction we experienced problems such as protein contamination, DNA purity and yield when followed some SDS-PK protocols reported elsewhere. A260/A280 and A260/A230 ratios along with PCR amplification give a clear idea about the procedure that was followed to extract the DNA. In an effort to increase the DNA purity from human whole blood, we pointed out some steps of the protocol that play a crucial role in determining the extraction of high quality DNA.

  1. Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases

    DEFF Research Database (Denmark)

    Hertz, Christin Loeth; Christiansen, Sofie Lindgren; Larsen, Maiken Kudahl

    2016-01-01

    Sudden infant death syndrome (SIDS) is the most frequent manner of post-perinatal death among infants. One of the suggested causes of the syndrome is inherited cardiac diseases, mainly channelopathies, that can trigger arrhythmias and sudden death. The purpose of this study was to investigate cases...... frequency, in one or more of the genes screened. The possible effects of the variants were not verified with family or functional studies. Eight (17%) of the SUDI cases had variants in genes affecting ion channel functions. The remaining eight cases had variants in genes associated with cardiomyopathies...

  2. Impact of Experiencing Acute Coronary Syndrome Prior to Open Heart Surgery on Psychiatric Status.

    Science.gov (United States)

    Yüksel, Volkan; Gorgulu, Yasemin; Cinar, Rugul Kose; Huseyin, Serhat; Sonmez, Mehmet Bulent; Canbaz, Suat

    2016-01-01

    The incidence of depression and anxiety is higher in patients with acute coronary syndrome. The aim of this study is to determine whether experiencing acute coronary syndrome prior to open heart surgery affects patients in terms of depression, hopelessness, anxiety, fear of death and quality of life. The study included 63 patients who underwent coronary bypass surgery between January 2015 and January 2016. The patients were divided into two groups: those diagnosed after acute coronary syndrome (Group 1) and those diagnosed without acute coronary syndrome (Group 2). Beck depression scale, Beck hopelessness scale, Templer death anxiety scale and death depression scale, State-Trait anxiety inventory and WHOQOL-Bref quality of life scale were applied. There was no significant difference between the two groups in terms of the total score obtained from Beck depression scale, Beck hopelessness scale - future-related emotions, loss of motivation, future-related expectations subgroups, death anxiety scale, the death depression scale, State-Trait Anxiety Inventory - social and environmental subgroups. The mental quality of life sub-scores of group 2 were significantly higher. The patients in both groups were found to be depressed and hopeless about the future. Anxiety levels were found to be significantly higher in all of the patients in both groups. Acute coronary syndrome before coronary artery bypass surgery impairs more the quality of life in mental terms. But unexpectedly there are no differences in terms of depression, hopelessness, anxiety and fear of death.

  3. Impact of Experiencing Acute Coronary Syndrome Prior to Open Heart Surgery on Psychiatric Status

    Directory of Open Access Journals (Sweden)

    Volkan Yüksel

    Full Text Available Abstract Objective: The incidence of depression and anxiety is higher in patients with acute coronary syndrome. The aim of this study is to determine whether experiencing acute coronary syndrome prior to open heart surgery affects patients in terms of depression, hopelessness, anxiety, fear of death and quality of life. Methods: The study included 63 patients who underwent coronary bypass surgery between January 2015 and January 2016. The patients were divided into two groups: those diagnosed after acute coronary syndrome (Group 1 and those diagnosed without acute coronary syndrome (Group 2. Beck depression scale, Beck hopelessness scale, Templer death anxiety scale and death depression scale, State-Trait anxiety inventory and WHOQOL-Bref quality of life scale were applied. Results: There was no significant difference between the two groups in terms of the total score obtained from Beck depression scale, Beck hopelessness scale - future-related emotions, loss of motivation, future-related expectations subgroups, death anxiety scale, the death depression scale, State-Trait Anxiety Inventory - social and environmental subgroups. The mental quality of life sub-scores of group 2 were significantly higher. The patients in both groups were found to be depressed and hopeless about the future. Anxiety levels were found to be significantly higher in all of the patients in both groups. Conclusion: Acute coronary syndrome before coronary artery bypass surgery impairs more the quality of life in mental terms. But unexpectedly there are no differences in terms of depression, hopelessness, anxiety and fear of death.

  4. Sudden death in eating disorders

    Directory of Open Access Journals (Sweden)

    Jáuregui-Garrido B

    2012-02-01

    Full Text Available Beatriz Jáuregui-Garrido1, Ignacio Jáuregui-Lobera2,31Department of Cardiology, University Hospital Virgen del Rocío, 2Behavioral Sciences Institute, 3Pablo de Olavide University, Seville, SpainAbstract: Eating disorders are usually associated with an increased risk of premature death with a wide range of rates and causes of mortality. “Sudden death” has been defined as the abrupt and unexpected occurrence of fatality for which no satisfactory explanation of the cause can be ascertained. In many cases of sudden death, autopsies do not clarify the main cause. Cardiovascular complications are usually involved in these deaths. The purpose of this review was to report an update of the existing literature data on the main findings with respect to sudden death in eating disorders by means of a search conducted in PubMed. The most relevant conclusion of this review seems to be that the main causes of sudden death in eating disorders are those related to cardiovascular complications. The predictive value of the increased QT interval dispersion as a marker of sudden acute ventricular arrhythmia and death has been demonstrated. Eating disorder patients with severe cardiovascular symptoms should be hospitalized. In general, with respect to sudden death in eating disorders, some findings (eg, long-term eating disorders, chronic hypokalemia, chronically low plasma albumin, and QT intervals >600 milliseconds must be taken into account, and it must be highlighted that during refeeding, the adverse effects of hypophosphatemia include cardiac failure. Monitoring vital signs and performing electrocardiograms and serial measurements of plasma potassium are relevant during the treatment of eating disorder patients.Keywords: sudden death, cardiovascular complications, refeeding syndrome, QT interval, hypokalemia

  5. GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

    Science.gov (United States)

    Mazzanti, Laura; Tamburrino, Federica; Scarano, Emanuela; Perri, Annamaria; Vestrucci, Benedetta; Guidetti, Monica; Rossi, Cesare; Tartaglia, Marco

    2013-11-01

    Noonan-like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting tN-myristoylation of the encoded protein. Cardinal features include facial features resembling NS, short stature often associated with proven growth hormone deficiency (GHD), typical ectodermal anomalies, and distinctive behavior. Overall, the clinical features are more severe than those generally observed in NS, even though the phenotype improves with age. We report on growth and pubertal trend in seven patients heterozygous for a mutated SHOC2 allele, treated with long-term GH-therapy, and final height (FH) in three of them. They were approximately -3 SDS below the Italian general population standards, they had very low IGF1 levels at baseline and GHD at pharmacological tests. All patients were treated with GH (0.035 mg/kg/day) for a mean period of 8.49 ± 5.72 years. After the 1st year of GH-therapy, IGF1 level and height velocity had increased. Three of 7 patients reached the FH (-2.34 ± 0.12 SDS) at 18.25 ± 0.73 years, after GH administration for 12.39 ± 2.12 years. Pubertal development was variable, showing a prolonged and delayed puberty or rapid pubertal progression that could impair the FH. Overall, our data in this small cohort suggest that NS/LAH patients benefit from long-term GH-therapy, although they do not show the characteristic catch-up growth of isolated GHD. While the observed growth and pubertal behavior is consistent with a dysfunction of the hypothalamic-pituitary-gonadal axis, the functional link between SHOC2 and the GH/IGF signaling pathways remains to be clarified. © 2013 Wiley Periodicals, Inc.

  6. Aortic events in a nationwide Marfan syndrome cohort

    DEFF Research Database (Denmark)

    Groth, Kristian A; Krag, Kirstine Stochholm; Hove, Hanne

    2017-01-01

    BACKGROUND: Marfan syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan...... syndrome cohort. METHOD: The nationwide cohort of Danish Marfan syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan syndrome...

  7. Heat transfer in nucleate pool boiling of aqueous SDS and triton X-100 solutions

    Energy Technology Data Exchange (ETDEWEB)

    Wasekar, Vivek M. [Tata Steel Limited, Department of Research and Development, Jamshedpur (India)

    2009-09-15

    Variation in degree of surface wettability is presented through the application of Cooper's correlative approach (h{proportional_to}M{sup -0.5}q{sub w}''0.67) for computing enhancement ({phi}) in nucleate pool boiling of aqueous solutions of SDS and Triton X-100 and its presentation with Marangoni parameter ({chi}) that represents the dynamic convection effects due to surface tension gradients. Dynamic spreading coefficient defined as {sigma} {sub dyn}N{sub a}, which relates spreading and wetting characteristics with the active nucleation site density on the heated surface and bubble evolution process, represents cavity filling and activation process and eliminates the concentration dependence of nucleate pool boiling heat transfer in boiling of aqueous surfactant solutions. Using the dynamic spreading coefficient ({sigma}{sub dyn}N{sub a}=0.09q{sub w}''0.71), correlation predictions within {+-}15% for both SDS and triton X-100 solutions for low heat flux boiling condition (q{sub w}''{<=} 100 kW/m {sup 2}) characterised primarily by isolated bubble regime are presented. (orig.)

  8. Mitochondrial apoptotic pathways induced by Drosophila programmed cell death regulators

    International Nuclear Information System (INIS)

    Claveria, Cristina; Torres, Miguel

    2003-01-01

    Multicellular organisms eliminate unwanted or damaged cells by cell death, a process essential to the maintenance of tissue homeostasis. Cell death is a tightly regulated event, whose alteration by excess or defect is involved in the pathogenesis of many diseases such as cancer, autoimmune syndromes, and neurodegenerative processes. Studies in model organisms, especially in the nematode Caenorhabditis elegans, have been crucial in identifying the key molecules implicated in the regulation and execution of programmed cell death. In contrast, the study of cell death in Drosophila melanogaster, often an excellent model organism, has identified regulators and mechanisms not obviously conserved in other metazoans. Recent molecular and cellular analyses suggest, however, that the mechanisms of action of the main programmed cell death regulators in Drosophila include a canonical mitochondrial pathway

  9. Early repolarisation and J wave syndromes

    Directory of Open Access Journals (Sweden)

    Kamal K. Sethi

    2014-07-01

    Full Text Available J wave syndrome has emerged as a significant cause of Idiopathic ventricular fibrillation (IVF responsible for sudden cardiac death. A large body of data is now available on genesis, genetics and ionic mechanisms of J wave syndromes. Two of these viz., Early repolarization syndrome (ER and Brugada syndrome (BrS are fairly well characterized enabling correct diagnosis in most patients. The first part of repolarization of ventricular myocardium is governed by Ito current i.e., rapid outward potassium current. The proposed mechanism of ventricular fibrillation (VF and ventricular tachycardia (VT storms is the faster Ito current in the epicardium than in the endocardium results in electrical gradient that forms the substrate for phase 2 reentry. Prevention of Ito current with quinidine supports this mechanism. Majority of ER patterns in young patients are benign. The key issue is to identify those at increased risk of sudden cardiac death. Association of both ER syndrome and Brugada syndrome with other disease states like coronary artery disease has also been reported. Individuals resuscitated from VF definitely need an implantable cardiac defibrillator (ICD but in others there is no consensus regarding therapy. Role of electrophysiology study to provoke ventricular tachycardia or fibrillation is not yet well defined. Radiofrequency ablation of epicardial substrate in right ventricle in Brugada syndrome is also under critical evaluation. In this review we shall discuss historical features, epidemiology, electrocardiographic features, ionic pathogenesis, clinical features and current status of proposed treatment of ER and BrS.

  10. Acute and chronic radiation syndrome in domestic animals

    International Nuclear Information System (INIS)

    Nuessel, M.

    1974-11-01

    The paper reports on the incidence and the clinical picture of the radiation syndrome in domestic animals, especially in pigs which are often used in animal experiments. The following parameters which influence the radiation reaction are discussed: type of irradiation (whole-body, partial-body and local irradiation), mean lethal radiation dose, radiation quality and RBE, age and individual radiosensitivity. The auther then describes the various symptoms of the radiation syndrome and the lesions which lead to death (death due to intestinal lesions, death following changes in the central nervous system). The next few chapters treat the symptoms manifested after chronic and internal irradiation. The paper closes with some remarks on the usability of irradiated animals for human consumption. (MG/AK) [de

  11. Analytical methods for proteome data obtained from SDS-PAGE multi-dimensional separation and mass spectrometry

    Directory of Open Access Journals (Sweden)

    Gun Wook Park

    2010-03-01

    Full Text Available For proteome analysis, various experimental protocols using mass spectrometry have been developed over thelast decade. The different protocols have differing performances and degrees of accuracy. Furthermore, the “best”protocol for a proteomic analysis of a sample depends on the purpose of the analysis, especially in connection withdisease proteomics, including biomarker discovery and therapeutics analyses of human serum or plasma. Theprotein complexity and the wide dynamic range of blood samples require high-dimensional separation technology.In this article, we review proteome analysis protocols in which both Sodium Dodecyl Sulfate-Polyacryl Amide GelElectrophoresis(SDS-PAGE and liquid chromatography are used for peptide and protein separations. Multidimensionalseparation technology supplies a high-quality dataset of tandem mass spectra and reveals signals fromlow-abundance proteins, although it can be time-consuming and laborious work. We survey shotgun proteomicsprotocols using SDS-PAGE and liquid chromatography and introduce bioinformatics tools for the analysis ofproteomics data. We also review efforts toward the biological interpretation of the proteome.

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

    Science.gov (United States)

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

    2016-12-14

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

  13. Polymorphism of proteins in selected slovak winter wheat genotypes using SDS-PAGE

    Directory of Open Access Journals (Sweden)

    Dana Miháliková

    2016-12-01

    Full Text Available Winter wheat is especially used for bread-making. The specific composition of the grain storage proteins and the representation of individual subunits determines the baking quality of wheat. The aim of this study was to analyze 15 slovak varieties of the winter wheat (Triticum aestivum L. based on protein polymorphism and to predict their technological quality. SDS-PAGE method by ISTA was used to separate glutenin protein subunits. Glutenins were separated into HMW-GS (15.13% and LMW-GS (65.89% on the basis of molecular weight in SDS-PAGE. At the locus Glu-A1 was found allele Null (53% of genotypes and allele 1 (47% of genotypes. The locus Glu-B1 was represented by the HMW-GS subunits 6+8 (33% of genotypes, 7+8 (27% of genotypes, 7+9 (40% of genotypes. At the locus Glu-D1 were detected two subunits, 2+12 (33% of genotypes and 5+10 (67% of genotypes which is correlated with good bread-making properties. The Glu – score was ranged from 4 (genotype Viglanka to 10 (genotypes Viola, Vladarka. According to the representation of individual glutenin subunits in samples, the dendrogram of genetic similarity was constructed. By the prediction of quality the results showed that the best technological quality was significant in the varieties Viola and Vladarka which are suitable for use in food processing.

  14. Towards Better Understanding of the Pathogenesis of Neuronal Respiratory Network in Sudden Perinatal Death

    Directory of Open Access Journals (Sweden)

    Riffat Mehboob

    2017-07-01

    Full Text Available Sudden perinatal death that includes the victims of sudden infant death syndrome, sudden intrauterine death syndrome, and stillbirth are heartbreaking events in the life of parents. Most of the studies about sudden perinatal death were reported from Italy, highlighting two main etiological factors: prone sleeping position and smoking. Other probable contributory factors are prematurity, male gender, lack of breastfeeding, respiratory tract infections, use of pacifiers, infant botulism, extensive use of pesticides and insecticides, etc. However, extensive studies across the world are required to establish the role of these factors in a different subset of populations. Previous studies confirmed the widely accepted hypothesis that neuropathology of the brainstem is one of the main cause of sudden perinatal death. This study is an effort to summarize the neuropathological evaluation of the brainstems and their association to sudden perinatal death. Brainstem nuclei in vulnerable infants undergo certain changes that may alter the sleep arousal cycle, cardiorespiratory control, and ultimately culminate in death. This review focuses on the roles of different brainstem nuclei, their pathologies, and the established facts in this regard in terms of it’s link to such deaths. This study will also help to understand the role of brainstem nuclei in controlling the cardiorespiratory cycles in sudden perinatal death and may provide a better understanding to resolve the mystery of these deaths in future. It is also found that a global initiative to deal with perinatal death is required to facilitate the diagnosis and prevention in developed and as well as developing countries.

  15. Esthesioneuroblastoma in Maffucci's syndrome

    International Nuclear Information System (INIS)

    Kurian, Sobha; Crowell, Edward B.; Ertan, Esmer; Rassekh, Christopher; Ducatman, Barbara

    2004-01-01

    Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

  16. Years of life lost through Down's syndrome.

    Science.gov (United States)

    Jones, M B

    1979-10-01

    A congenital genetic condition does not act either as a cause of death or at the time of death only. Hence, years of life lost through such a conditon cannot be calculated in the same way as for a conventional cause of death. The main difference is that a cause of death acting at age x cuts off as many years of life as the dead person might otherwise have expected to live (life expectancy at age x), whereas a congenital genetic condition exposes an affected person to a different schedule of life-threatening risks from birth onwards. In the latter case, years of life lost is calculated as the difference in life expectancy at birth for affected and non-affected persons. This reasoning is worked out in algebraic form and then applied to Down's syndrome. The data base is provided by two large and recent studies, one in Massachusetts and the other in Denmark, of mortality rates among all cases of Down's syndrome, whether in an institution or not, born during a given period of years or living at a given point in time in a fixed geographical area. So calculated, years of life lost through Down's syndrome relative to the United States general population in 1970 was 53.6 years per 1000 livebirths. Prenatal mortality is also discussed.

  17. Drug treatment of metabolic syndrome.

    Science.gov (United States)

    Altabas, Velimir

    2013-08-01

    The metabolic syndrome is a constellation of risk factors for cardiovascular diseases including: abdominal obesity, a decreased ability to metabolize glucose (increased blood glucose levels and/or presence of insulin resistance), dyslipidemia, and hypertension. Patients who have developed this syndrome have been shown to be at an increased risk of developing cardiovascular disease and/or type 2 diabetes. Genetic factors and the environment both are important in the development of the metabolic syndrome, influencing all single components of this syndrome. The goals of therapy are to treat the underlying cause of the syndrome, to reduce morbidity, and to prevent complications, including premature death. Lifestyle modification is the preferred first-step treatment of the metabolic syndrome. There is no single effective drug treatment affecting all components of the syndrome equally known yet. However, each component of metabolic syndrome has independent goals to be achieved, so miscellaneous types of drugs are used in the treatment of this syndrome, including weight losing drugs, antidiabetics, antihypertensives, antilipemic and anticlothing drugs etc. This article provides a brief insight into contemporary drug treatment of components the metabolic syndrome.

  18. Addition of urea and thiourea to electrophoresis sample buffer improves efficiency of protein extraction from TCA/acetone-treated smooth muscle tissues for phos-tag SDS-PAGE.

    Science.gov (United States)

    Takeya, Kosuke; Kaneko, Toshiyuki; Miyazu, Motoi; Takai, Akira

    2018-01-01

    Phosphorylation analysis by using phos-tag technique has been reported to be suitable for highly sensitive quantification of smooth muscle myosin regulatory light chain (LC 20 ) phosphorylation. However, there is another factor that will affect the sensitivity of phosphorylation analysis, that is, protein extraction. Here, we optimized the conditions for total protein extraction out of trichloroacetic acid (TCA)-fixed tissues. Standard SDS sample buffer extracted less LC 20 , actin and myosin phosphatase targeting subunit 1 (MYPT1) from TCA/acetone treated ciliary muscle strips. On the other hand, sample buffer containing urea and thiourea in addition to lithium dodecyl sulfate (LDS) or SDS extracted those proteins more efficiently, and thus increased the detection sensitivity up to 4-5 fold. Phos-tag SDS-PAGE separated dephosphorylated and phosphorylated LC 20 s extracted in LDS/urea/thiourea sample buffer to the same extent as those in standard SDS buffer. We have concluded that LDS (or SDS) /urea/thiourea sample buffer is suitable for highly sensitive phosphorylation analysis in smooth muscle, especially when it is treated with TCA/acetone. © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  19. Long QT syndrome

    International Nuclear Information System (INIS)

    Contreras Z, Eduardo; Gomez M, Juan E; Zuluaga M, Sandra X.

    2008-01-01

    Long QT syndrome is a disease characterized by the electrocardiographic alteration in ventricular repolarization manifested by prolonged QT interval, secondary to prolonged ventricular repolarization. This makes these patients more vulnerable to very fast ventricular arrhythmias such as torsade des pointes or ventricular fibrillation. This syndrome is generally observed in young people and is associated with sudden death. It may appear as part of congenital LQTS (Jervell and Lange-Nielsen and Romano- Ward), or may be secondarily acquired due to metabolic or toxic alterations or to other pathophysiologic factors.

  20. Cationic Amphiphilic Tris-Cyclometalated Iridium(III) Complexes Induce Cancer Cell Death via Interaction with Ca2+-Calmodulin Complex.

    Science.gov (United States)

    Hisamatsu, Yosuke; Suzuki, Nozomi; Masum, Abdullah-Al; Shibuya, Ai; Abe, Ryo; Sato, Akira; Tanuma, Sei-Ichi; Aoki, Shin

    2017-02-15

    In our previous paper, we reported on the preparation of some cationic amphiphilic Ir complexes (2c, 2d) containing KKGG peptides that induce and detect cell death of Jurkat cells. Mechanistic studies suggest that 2c interacts with anionic molecules and/or membrane receptors on the cell surface to trigger an intracellular Ca 2+ response, resulting in the induction of cell death, accompanied by membrane disruption. We have continued the studies of cell death of Jurkat cells induced by 2c and found that xestospongin C, a selective inhibitor of an inositol 1,4,5-trisphosphate receptor located on the endoplasmic reticulum (ER), reduces the cytotoxicity of 2c, suggesting that 2c triggers the release of Ca 2+ from the ER, leading to an increase in the concentration of cytosolic Ca 2+ , thus inducing cell death. Moreover, we synthesized a series of new amphiphilic cationic Ir complexes 5a-c containing photoreactive 3-trifluoromethyl-3-phenyldiazirine (TFPD) groups, in an attempt to identify the target molecules of 2c. Interestingly, it was discovered that a TFPD group functions as a triplet quencher of Ir complexes. It was also found that 5b is useful as a turn-on phosphorescent probe of acidic proteins such as bovine serum albumin (BSA) (pI = 4.7) and their complexation was confirmed by luminescence titrations and SDS-PAGE of photochemical products between them. These successful results allowed us to carry out photoaffinity labeling of the target biomolecules of 5b (2c and analogues thereof) in Jurkat cells. A proteomic analysis of the products obtained by the photoirradiation of 5b with Jurkat cells suggests that the Ca 2+ -binding protein "calmodulin (CaM)" is one of target proteins of the Ir complexes. Indeed, 5b was found to interact with the Ca 2+ -CaM complex, as evidenced by luminescence titrations and the results of photochemical reactions of 5b with CaM in the presence of Ca 2+ (SDS-PAGE). A plausible mechanism for cell death induced by a cationic amphiphilic Ir

  1. Fever-Induced Brugada Syndrome

    Directory of Open Access Journals (Sweden)

    Sandhya Manohar MD

    2015-03-01

    Full Text Available Brugada syndrome is increasingly recognized as a cause of sudden cardiac death. Many of these patients do not get diagnosed due its dynamic and often hidden nature. We have come a long way in understanding the disease process, and its electrophysiology appears to be intimately linked with sodium channel mutations or disorders. The cardiac rhythm in these patients can deteriorate into fatal ventricular arrhythmias. This makes it important for the clinician to be aware of the conditions in which arrhythmogenicity of Brugada syndrome is revealed or even potentiated. We present such an instance where our patient’s Brugada syndrome was unmasked by fever.

  2. Marfan's Syndrome: Detection and Management.

    Science.gov (United States)

    Cantwell, John D.

    1986-01-01

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

  3. Quantitative determination of titin and nebulin in poultry meat by SDS-PAGE with an internal standard

    NARCIS (Netherlands)

    Tomaszewska Gras, J.; Kijowski,; Schreurs, F.J.G.

    2002-01-01

    The method of quantitative determination of titin and nebulin in chicken meat by SDS-PAGE electrophoresis technique was developed by application of β-galactosidase as the internal standard. The method was tested first on marker protein samples of known concentrations (myosin, transferrin, glutamic

  4. LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.

    NARCIS (Netherlands)

    Wessels, H.C.T.; Vogel, R.O.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Rodenburg, R.J.T.; Nijtmans, L.G.J.; Farhoud, M.H.

    2009-01-01

    Two-dimensional blue native/SDS-PAGE is widely applied to investigate native protein-protein interactions, particularly those within membrane multi-protein complexes. MS has enabled the application of this approach at the proteome scale, typically by analysis of picked protein spots. Here, we

  5. Mouse models of long QT syndrome

    Science.gov (United States)

    Salama, Guy; London, Barry

    2007-01-01

    Congenital long QT syndrome is a rare inherited condition characterized by prolongation of action potential duration (APD) in cardiac myocytes, prolongation of the QT interval on the surface electrocardiogram (ECG), and an increased risk of syncope and sudden death due to ventricular tachyarrhythmias. Mutations of cardiac ion channel genes that affect repolarization cause the majority of the congenital cases. Despite detailed characterizations of the mutated ion channels at the molecular level, a complete understanding of the mechanisms by which individual mutations may lead to arrhythmias and sudden death requires study of the intact heart and its modulation by the autonomic nervous system. Here, we will review studies of molecularly engineered mice with mutations in the genes (a) known to cause long QT syndrome in humans and (b) specific to cardiac repolarization in the mouse. Our goal is to provide the reader with a comprehensive overview of mouse models with long QT syndrome and to emphasize the advantages and limitations of these models. PMID:17038432

  6. Investigation the foam dynamics capacity of SDS in foam generator by affecting the presence of organic and inorganic contaminant

    Science.gov (United States)

    Haryanto, Bode; Siswarni, M. Z.; Sianipar, Yosef C. H.; Sinaga, Tongam M. A.; Bestari, Imam

    2017-05-01

    The effect of negative charge SDS monomer on its foam capacity with the presence of contaminants was investigated in foam generator. Generally, surfactant with higher concentration has higher foam capacity. The higher concentration will increase the number of monomer then increase the micelles in liquid phase. Increasing the number of monomer with the negative charge is a potential to increase interaction with metal ion with positive charge in solution. The presence of inorganic compound as metal ion with positive charge and organic compound (colloid) as particle of coffee impacting to generate the foam lamella with monomer is evaluated. Foam dynamic capacity of only SDS with variation of CMC, 1 x; 2 x; 3 x have the height 7.5, 8.0 and 8.3 cm respectively with the different range time were investigated. The Height of foam dynamic capacity with the presence of 20 ppm Cd2+ ion contaminant was 8.0, 8.3 and 8.4 cm at the same CMC variation of SDS. The presence of metal ion contaminant within the foam was confirmed by AAS. The black coffee particles and oil as contaminant decreased the foam capacity significantly in comparing to metal ions.

  7. Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

    NARCIS (Netherlands)

    Veenstra-Knol, HE; Kleibeuker, A; Timmer, A; ten Kate, LP; van Essen, AJ

    2003-01-01

    Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, ankylo-blepharon, hypoplastic nose, orofacial

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

    Science.gov (United States)

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

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    N. G. Ribeiro-Júnior

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

  10. A fatal case of Perthes syndrome

    Directory of Open Access Journals (Sweden)

    Jérôme Jobé

    2013-01-01

    Full Text Available Perthes syndrome, or traumatic asphyxia, is a clinical syndrome associating cervicofacial cyanosis with cutaneous petechial haemorrhages and subconjonctival bleeding resulting from severe sudden compressive chest trauma. Deep inspiration and a Valsalva maneuver just prior to rapid and severe chest compression, are responsible for the development of this syndrome. Current treatment is symptomatic: urgent relief of chest compression and cardiopulmonary resuscitation if needed. Outcome may be satisfactory depending on the duration and severity of compression. Prolonged thoracic compression may sometimes lead to cerebral anoxia, irreversible neurologic damage and death. We report a fatal case of Perthes syndrome resulting from an industrial accident.

  11. The role of CAV3 in long-QT syndrome

    DEFF Research Database (Denmark)

    Hedley, Paula L; Kanters, Jørgen K.; Dembic, Maja

    2013-01-01

    Mutations in CAV3, coding for caveolin-3, the major constituent scaffolding protein of cardiac caveolae, have been associated with skeletal muscle disease, cardiomyopathy, and most recently long-QT syndrome (LQTS) and sudden infant death syndrome. We examined the occurrence of CAV3 mutations...

  12. Genetic variation and relationships of old maize genotypes (Zea mays l. detected using SDS-page

    Directory of Open Access Journals (Sweden)

    Martin Vivodík

    2016-11-01

    Full Text Available The assessment of genetic diversity among the members of a species is of vital importance for successful breeding and adaptability. In the present study 40 old genotypes of maize from Hungary, Union of Soviet Socialist Republics, Poland, Czechoslovakia, Yugoslavia and Slovak Republic  were evaluated for the total seed storage proteins using sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE through vertical slab unit. The number of total scorable protein bands was twentythree as a result of SDS-PAGE technique but those that were not cosistent in reproducibility and showed occasional variation in sharpness and density were not considered. Out of twentythree polypeptide bands, 6 (31% were commonly present in all accessions and considered as monomorphic, while 17 (65% showed variations and considered as polymorphic. On the basis of banding profiles of proteins of different kDa, gel was divided into zones A, B and C. The major protein bands were lied in zones A and B, while minor bands were present in zones C. In zone A out of 10 protein bands, 1 were monomorphic and 9 were polymorphic. In zone B out of 8 protein bands, 3 was monomorphic and 5 was polymorphic and in zone C out of 5 protein bands, 2 were monomorphic whereas 3 polymorphic. The dendrogram tree demonstrated the relationship among the forty registered old maize genotypes according to the similarity index, using UPGMA cluster analysis. The dendrogram was divided into two main clusters. The first one contained eleven genotypes from maize, while the second cluster contained the twentynine genotypes of maize. Similarly the present study of genetic variability in the seed storage polypeptide determined by SDS-PAGE technique proved that it is fruitful to identify genetic diversity among accessions of maize. 

  13. Pulmonary manifestations of Sjögren's syndrome

    Directory of Open Access Journals (Sweden)

    Thomas Flament

    2016-06-01

    Full Text Available In 9–20% of cases, Sjögren's syndrome is associated with various respiratory symptoms. The most typical manifestations are chronic interstitial lung disease (ILD and tracheobronchial disease. The most common manifestation of ILD is nonspecific interstitial pneumonia in its fibrosing variant. Other types of ILD, such as organising pneumonia, usual interstitial pneumonia and lymphocytic interstitial pneumonitis, are rare. Their radiological presentation is less distinctive, and definitive diagnosis may require the use of transbronchial or surgical lung biopsy. Corticosteroid therapy is the mainstay of ILD treatment in Sjögren's syndrome, but the use of other immunosuppressive drugs needs to be determined. ILD is a significant cause of death in Sjögren's syndrome. Tracheobronchial disease is common in Sjögren's syndrome, characterised by diffuse lymphocytic infiltration of the airway. It is sometimes responsible for a crippling chronic cough. It can also present in the form of bronchial hyperresponsiveness, bronchiectasis, bronchiolitis or recurrent respiratory infections. The management of these manifestations may require treatment for dryness and/or inflammation of the airways. Airway disease has little effect on respiratory function and is rarely the cause of death in Sjögren's syndrome patients. Rare respiratory complications such as amyloidosis, lymphoma or pulmonary hypertension should not be disregarded in Sjögren's syndrome patients.

  14. Prevention and Management of Refeeding Syndrome

    Directory of Open Access Journals (Sweden)

    Andika Indrarespati

    2016-12-01

    Full Text Available Refeeding Syndrome is a syndrome which occurs as a result of food administration in poorly nourished individuals. In this syndrome, there are wide range of biochemical alterations, clinical manifestations, and complications, starting from mild (asymptomatic to severe (death. This syndrome was initially proposed in 1950s; however, there is still no agreement for its clear definition, causing clinicians to be less aware and tend to overlook this condition. Clinical manifestations which usually appear include electrolyte imbalances (hypophosphatemia, hypokalemia, hyponatremia, hypomagnesemia and vitamin B1 deficiency. The main principle in management of refeeding syndrome is prevention, where clinicians need to identify this condition in the early stage in high risk individuals, supervision during refeeding, and administration of appropriate diet.

  15. PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population

    NARCIS (Netherlands)

    G. Liebrechts-Akkerman (Germaine); F. Liu (Fan); O. Lao Grueso (Oscar); A.H.A.G. Ooms (Ariadne ); K. van Duijn (Kate); M. Vermeulen (Mark); V.W.V. Jaddoe (Vincent); A. Hofman (Albert); A.C. Engelberts (Adele); M.H. Kayser (Manfred)

    2014-01-01

    textabstractUnclassified sudden infant death (USID) is the sudden and unexpected death of an infant that remains unexplained after thorough case investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. When the infant is below 1

  16. Correlation between drug–drug interaction-induced Stevens–Johnson syndrome and related deaths in Taiwan

    Directory of Open Access Journals (Sweden)

    Fu-Jen Cheng

    2016-04-01

    Full Text Available Concomitant use of some drugs can lead to interactions between them resulting in severe adverse effects. To date, there are few reports of incidences of Stevens-Johnson syndrome (SJS associated with combination drug administration. Therefore, we studied the relationship between drug combinations and SJS-related mortality, with the hope that a retrospective study of this nature would provide information crucial for the prevention of future drug-drug interaction related deaths attributable to SJS. This retrospective longitudinal study used mortality cases from 1999 to 2008 that were diagnosed as erythema multiforme (International Classification of Diseases, Ninth Revision, Clinical Modification 695.1 from the National Health Insurance database in Taiwan. Statistical comparisons of the results were performed using analysis of variance (ANOVA, independent sample t-tests, and odds ratio (OR. In this way, the relationship between combinations of SJS-inducing drugs and mortality could be determined. A total of 111 patients who had died, including 63 males and 48 females (66.0 ± 20 and 70.0 ± 17.7 years, respectively, were suspected of having experienced drug-drug interaction-related adverse effects. The associated drug combinations included allopurinol and ampicillin (p = 0.049, carbamazepine and sulfamethoxazole/trimethoprim (TMP (p < 0.0001, carbamazepine and phenytoin (p < 0.0001, sulfamethoxazole/TMP and phenytoin (p = 0.015, sulfadoxine and piroxicam (p = 0.045, phenobarbital and cephalexin (p < 0.0001, ampicillin and erythromycin (p < 0.0001, erythromycin and minocycline (p < 0.0001, and vancomycin and ethambutol (p < 0.0001 administered 1 month before the patients' deaths. Caution should be exercised when administering any drugs that may possibly induce SJS. In addition, attention should be paid to ensure prompt identification of possible drug-drug interactions, and patients should be closely monitored. Furthermore

  17. McGibbon Syndrome: A report of three siblings

    Directory of Open Access Journals (Sweden)

    J Maria Rajathi

    2013-01-01

    Full Text Available Amelogenesis Imperfecta (AI is a collective term for a number of developmental conditions characterized by abnormal enamel formation. Only a few cases of AI have been reported to occur in association with syndromes and metabolic conditions. McGibbon Syndrome or AI and Nephrocalcinosis Syndrome are such disorders with defective enamel and renal calcifications. Early diagnosis of this condition is essential to prevent renal failure and death of the patient.

  18. Evidence-Based Novel Changes in Prevalence and Symptom Characteristics of Spleen Deficiency Syndrome in Persons of Varied Health Status and Different Ages: A Cross-Sectional Observational Study

    Directory of Open Access Journals (Sweden)

    Yin Zhang

    2014-01-01

    Full Text Available Deficiency of the organs is a vital pathophysiologic characteristic in the elderly. A core TCM aging theory is known as aging caused by spleen deficiency syndrome (SDS that can be found in ancient and modern literature. The key objectives of this study were to establish a full-scale trial to evaluate the prevalence, symptom severity, frequency, and distribution of SDS in different age groups as related to health status (healthy, subhealthy, and chronic disease to elucidate the role of spleen deficiency in the aging process and deterioration of health status. This cross-sectional observational study was conducted in 4 hospitals in China. 1390 participants aged 20–79 were interviewed by investigators who completed questionnaires recording prevalence, severity, and frequency of symptoms as well as other relevant information. The results revealed that prevalence and symptom characteristics of SDS showed regularities with increasing age and deteriorating health status. It supports the TCM concept that spleen deficiency is an important mechanism of aging, subhealth, and chronic diseases. Early recognition of the warning signs and symptoms of SDS may lead to intervention and even prevention strategies for subhealth and chronic diseases as well as promotion of healthy aging.

  19. The NPOESS Preparatory Project (NPP) Science Data Segment (SDS) Data Depository and Distribution Element (SD3E) System Architecture

    Science.gov (United States)

    Ho, Evelyn L.; Schweiss, Robert J.

    2008-01-01

    The National Polar-orbiting Operational Environmental Satellite System (NPOESS), the U.S. Government's future low-Earth orbiting satellite system, will monitor global weather and environmental conditions. Serving as a risk reduction for NPOESS, the NPOESS Preparatory Project (NPP) will provide remotely sensed atmospheric, land, ocean, ozone, and sounder data that will serve the meteorological and global climate change scientific communities. The National Aeronautics and Space Administration (NASA) NPP Science Data Segment's (SDS) primary role is to independently assess the quality of the NPP science and environmental data records for their ability to support climate research. The SDS is composed of nine elements; an input element that receives data from the operational agencies and acts as a buffer, a calibration analysis element, five elements devoted to measurement based quality assessment, an element used to test algorithmic improvements, and an element that provides overall science direction. Each element requires a set of sensor specific science data products for their evaluation. There are four NPP sensors that will be flown on the NPP observatory. They are the Visible Infrared Imagining Radiometer Suite (VIIRS), the Advanced Technology Microwave Sounder (ATMS), the Cross-Track Infrared Sounder (CrIS), and the Ozone Mapper/Profiler Suite (OMPS). It is estimated that these four sensors combined will make daily data requests for approximately six terabytes of NPP science products from the operational data providers. As a result, issues associated with duplicate data requests, data transfers of large volumes of diverse products, and data transfer failures raised concerns with respect to the network traffic and bandwidth consumption. Therefore, a central data broker system for receiving and buffering data requests and data products for the SDS was developed. The data element for this system is called the SDS Data Depository and Distribution Element (SD3E). It

  20. Development of high pressure conductivity probe (HPCP) for secondary shut down system (SDS-2) of 500 MWe PHWR

    International Nuclear Information System (INIS)

    Sapra, M.K.; Kundu, S.; Mohan, L.R.

    2003-09-01

    The poison solution and the moderator in Secondary Shutdown System (SDS-2) of 500 MWe PHWR, are separated by their own liquid in liquid interface. This interface moves towards the calandria because of molecular diffusion, temperature difference and physical disturbances in the moderator level. It is proposed to install two numbers of high pressure conductivity probes (HPCP) to monitor the interface movement as well as to provide the safe annunciation value for interface location. On actuation of the SDS-2 signal, high-pressure helium will inject the poison into the moderator to shutdown the reactor. During poison injection, these probes will experience high pressure of nearly 85 kg/sq.cm. Global market survey indicated that conductivity probes having built in temperature sensor are available for a maximum pressure rating of 35 kg/sq.cm. Hence in order to meet the process requirement of SDS-2, the development of HPCP suitable for a pressure of 85 kg/sq.cm. was taken up. Two numbers of such probes were successfully designed, fabricated and evaluated for their performance. The developed conductivity probes fully meet the laid design and performance criteria. The aforesaid development work was a successful endeavour towards indigenisation of high-pressure conductivity probe for future applications. This report deals with the design aspects, fabrication technique, material and performance evajuation criteria and test results of HPCP. (author)

  1. Sudden death in the first 2 years of life following immunization in the Republic of Korea.

    Science.gov (United States)

    Choe, Young June; Kim, Jong-Hee; Son, Hyun Jin; Bae, Geun-Ryang; Lee, Duk-hyoung

    2012-12-01

    Because the peak age for incidence of sudden deaths in infancy temporally coincides with the age of infant primary immunization, some have raised the question as to whether immunization is a risk factor for sudden death in infancy. Recent occurrence of two sudden deaths in infants in Korea has renewed concerns about the causal association between immunization and sudden deaths in infants. We carried out a retrospective review of data from the Korea Centers for Disease Control and Prevention Adverse Events Following Immunization Surveillance System and Vaccine Compensation programs. From 1994 to 2011, a total of 45 cases of sudden deaths in the first 2 years of life following immunization were reported in Korea. The causes of death were classified as follows: infectious diseases (n= 13); accidental injuries (n= 7); congenital abnormalities (n= 2); and malignancy (n= 1). Of 20 sudden deaths in infancy, nine deaths met Brighton Collaboration case definition level I and II, and therefore were classified as possible sudden infant death syndrome cases. Hepatitis B vaccine (n= 13) was the most frequent vaccine with temporal association with sudden deaths in the first 2 years of life. Few sudden deaths in the first 2 years of life following immunization have been reported, despite the use of universal immunization in Korea. The majority of deaths in infancy did not meet case definition for sudden infant death syndrome. Encouraging investigators to perform thorough investigation, including postmortem autopsy and death scene examination, may promote data comparability and provide guidance on decision-making in the vaccine-safety monitoring and response system in Korea. © 2012 The Authors. Pediatrics International © 2012 Japan Pediatric Society.

  2. Urinary growth hormone level and insulin-like growth factor-1 standard deviation score (IGF-SDS) can discriminate adult patients with severe growth hormone deficiency.

    Science.gov (United States)

    Hirohata, Toshio; Saito, Nobuhito; Takano, Koji; Yamada, So; Son, Jae-Hyun; Yamada, Shoko M; Nakaguchi, Hiroshi; Hoya, Katsumi; Murakami, Mineko; Mizutani, Akiko; Okinaga, Hiroko; Matsuno, Akira

    2013-01-01

    Adult growth hormone (GH) deficiency (AGHD) in Japan is diagnosed based on peak GH concentrations during GH provocative tests such as GHRP-2 stimulation test. In this study, we aimed to evaluate the ability of serum insulin-like growth factor-1 (sIGF-1) and urinary GH (uGH) at the time of awakening to diagnose AGHD. Fifty-nine patients with pituitary disease (32 men and 27 women; age 20-85 y (57.5 ± 15.5, mean ± SD) underwent GHRP-2 stimulation and sIGF-1 testing. Thirty-six and 23 patients were diagnosed with and without severe AGHD, respectively based on a peak GH response of standard deviation score (IGF-1 SDS) based on age and sex. We determined whether uGH levels in urine samples from 42 of the 59 patients at awakening were above or below the sensitivity limit. We evaluated IGF-1 SDS and uGH levels in a control group of 15 healthy volunteers. Values for IGF-1 SDS were significantly lower in patients with, than without (-2.07 ± 1.77 vs.-0.03 ± 0.92, mean ± SD; p -1.4. IGF-1 SDS discriminated AGHD more effectively in patients aged ≤60 years. The χ2 test revealed a statistical relationship between uGH and AGHD (test statistic: 7.0104 ≥ χ2 (1; 0.01) = 6.6349). When IGF-1 SDS is < -1.4 or uGH is below the sensitivity limit, AGHD can be detected with high sensitivity.

  3. Long QT syndrome unmasked in an adult subject presenting with excited delirium.

    Science.gov (United States)

    Bozeman, William P; Ali, Karim; Winslow, James E

    2013-02-01

    Excited delirium is increasingly recognized as a risk factor for sudden death, though the specific pathophysiology of these deaths is typically unclear. We describe a survivor of excited delirium that displayed a transient severe prolongation of the QT interval, suggesting unmasking of long QT syndrome as a possible mechanism of sudden death. A 30-year-old man was arrested by police for violent assaultive behavior. Officers at the scene noted confusion, nonsensical speech, sweating, and bizarre agitated behavior; he was transported to the Emergency Department for medical evaluation of possible excited delirium. His initial electrocardiogram revealed a markedly prolonged corrected QT interval of over 600 ms. Intravenous hydration and sodium bicarbonate were administered, with normalization of the QT; he was admitted and recovered uneventfully. We discuss the possible association between long QT syndrome and unexplained sudden deaths seen with excited delirium. Sodium bicarbonate may be considered when long QT syndrome is identified during or after agitated delirium, though its routine use cannot be recommended based on a case report. Copyright © 2013 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    Gollenberg, Audra; Fendley, Kim

    2018-01-01

    Sudden infant death syndrome (SIDS) remains a leading cause of infant death in the United States and in Virginia, 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.

  5. Prospective risk of fetal death in uncomplicated monochorionic twins.

    LENUS (Irish Health Repository)

    Farah, Nadine

    2012-03-01

    A retrospective cohort study was carried out in a university teaching hospital to determine the prospective risk of unexpected fetal death in uncomplicated monochorionic diamniotic (MCDA) twin pregnancies after viability. All MCDA twins delivered at or after 24 weeks\\' gestation from July 1999 to July 2007 were included. Pregnancies with twin-twin transfusion syndrome, growth restriction, structural abnormalities, or twin reversed arterial perfusion sequence were excluded. Of the 144 MCDA twin pregnancies included in our analysis, the risk of intrauterine death was 4.9%. The prospective risk of unexpected intrauterine death was 1 in 43 after 32 weeks\\' gestation and 1 in 37 after 34 weeks\\' gestation. Our results demonstrate that despite close surveillance, the unexpected intrauterine death rate in uncomplicated MCDA twin pregnancies is high. This rate seems to increase after 34 weeks\\' gestation, suggesting that a policy of elective preterm delivery warrants evaluation.

  6. DETEKSI DAN MANAJEMEN REFEEDING SYNDROME

    Directory of Open Access Journals (Sweden)

    Darmadi Darmadi

    2012-09-01

    Full Text Available AbstrakRefeeding syndrome (RFS dideskripsikan sebagai perubahan biokimiawi, manifestasi klinis dan komplikasi sebagai konsekuensi pemberian nutrisi pada pasien kurang gizi. Refeeding syndrome ini menyebabkan dampak buruk dan kematian. Sindroma ini lebih sering terjadi pada kelompok risiko. Refeeding syndrome merupakan suatu sindroma yang sering tak terdiagnosis oleh karena itu perlu peningkatan pengetahuan dan kesadaran dari tenaga medis untuk mengurangi morbiditas dan mortalitas dari RFS. Karena alasan tersebut ditulis tinjauan pustaka ini yang akan membahas mengenai patofisiologi, faktor risiko, manifestasi klinis, dan manajemennya.Kata kunci : refeeding syndrome, kurang gizi, hipofosfatemia, dukungan nutrisiAbstractRefeeding syndrome (RFS describel as biochemical changes, clinical manifestations, and complications that can occur as a consequence of feeding a malnourished individual. RFS can result in serious harm and death. RFS more commonly occurs in at-risk populations. Increased awareness amongst healthcare professionals is likely to reduce morbidity and mortality. This review examines the pathophysiology, risk factors, clinical manifestations, and management of RFS.Key word : refeeding syndrome, malnourished, hypophosphatemia, nutritional support

  7. Proteomic study of muscle sarcoplasmic proteins using AUT-PAGE/SDS-PAGE as two-dimensional gel electrophoresis.

    Science.gov (United States)

    Picariello, Gianluca; De Martino, Alessandra; Mamone, Gianfranco; Ferranti, Pasquale; Addeo, Francesco; Faccia, Michele; Spagnamusso, Salvatore; Di Luccia, Aldo

    2006-03-20

    In the present study, an alternative procedure for two-dimensional (2D) electrophoretic analysis in proteomic investigation of the most represented basic muscle water-soluble proteins is suggested. Our method consists of Acetic acid-Urea-Triton polyacrylamide gel (AUT-PAGE) analysis in the first dimension and standard sodium dodecyl sulphate polyacrylamide gel (SDS-PAGE) in the second dimension. Although standard two-dimensional Immobilized pH Gradient-Sodium Dodecyl-Sulphate (2D IPG-SDS) gel electrophoresis has been successfully used to study these proteins, most of the water-soluble proteins are spread on the alkaline part of the 2D map and are poorly focused. Furthermore, the similarity in their molecular weights impairs resolution of the classical approach. The addition of Triton X-100, a non-ionic detergent, into the gel induces a differential electrophoretic mobility of proteins as a result of the formation of mixed micelles between the detergent and the hydrophobic moieties of polypeptides, separating basic proteins with a criterion similar to reversed phase chromatography based on their hydrophobicity. The acid pH induces positive net charges, increasing with the isoelectric point of proteins, thus allowing enhanced resolution in the separation. By using 2D AUT-PAGE/SDS electrophoresis approach to separate water-soluble proteins from fresh pork and from dry-cured products, we could spread proteins over a greater area, achieving a greater resolution than that obtained by IPG in the pH range 3-10 and 6-11. Sarcoplasmic proteins undergoing proteolysis during the ripening of products were identified by Matrix Assisted Laser Desorption/Ionization-Time of Flight (MALDI-ToF) mass spectrometry peptide mass fingerprinting in a easier and more effective way. Two-dimensional AUT-PAGE/SDS electrophoresis has allowed to simplify separation of sarcoplasmic protein mixtures making this technique suitable in the defining of quality of dry-cured pork products by immediate

  8. Death certificate data and causes of death in patients with parkinsonism.

    Science.gov (United States)

    Moscovich, Mariana; Boschetti, Gabriela; Moro, Adriana; Teive, Helio A G; Hassan, Anhar; Munhoz, Renato P

    2017-08-01

    Assessment of variables related to mortality in Parkinson disease (PD) and other parkinsonian syndromes relies, among other sources, on accurate death certificate (DC) documentation. We assessed the documentation of the degenerative disorder on DCs and evaluated comorbidities and causes of death among parkinsonian patients. Demographic and clinical data were systematically and prospectively collected on deceased patients followed at a tertiary movement disorder clinic. DCs data included the documentation of parkinsonism, causes, and place of death. Among 138 cases, 84 (60.9%) male, mean age 77.9 years, mean age of onset 66.7, and mean disease duration 10.9 years. Clinical diagnoses included PD (73.9%), progressive supranuclear palsy (10.9%), multiple system atrophy (7.2%), Lewy body dementia (7.2%) and corticobasal degeneration (0.7%). Psychosis occurred in 60.1% cases, dementia in 48.5%. Most PD patients died due to heterogeneous causes before reaching advanced stages. Non-PD parkinsonian patients died earlier due to causes linked to the advanced neurodegenerative process. PD was documented in 38.4% of DCs with different forms of inconsistencies. That improved, but remained significant when it was signed by a specialist. More than half of PD cases died while still ambulatory and independent, after a longer disease course and due to causes commonly seen in that age group. Deaths among advanced PD patients occurred due to causes similar to what we found in non-PD cases. These findings can be useful for clinical, prognostic and counseling purposes. Underlying parkinsonian disorders are poorly documented in DCs, undermining its' use as sources of data collection. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome.

    Science.gov (United States)

    Lo, Sin Ting; Siemensma, Elbrich; Collin, Philippe; Hokken-Koelega, Anita

    2013-09-01

    In order to evaluate the social cognitive functioning in children with Prader-Willi syndrome (PWS), Theory of Mind (ToM) and symptoms of Autism Spectrum Disorder were evaluated. Sixty-six children with PWS aged 7-17 years were tested using the Theory of Mind test-R and the Diagnostic Interview for Social Communication disorders. We tested the correlation between Total ToM Standard Deviation Score (Total ToM SDS) and genetic subtype of paternal deletion or maternal uniparental disomy, and total IQ, verbal IQ and performal IQ. Prevalence and symptoms of Autism Spectrum Disorder were assessed. Median (interquartile range) of total ToM SDS of those aged 7-17 years was -3.84 (-5.73, -1.57). Their Total ToM SDS correlated with total IQ (β=0.662, p0.05, adj.R(2)=0.259). No difference in Total ToM SDS was found between children with deletion and maternal uniparental disomy (β=-0.143, p>0.05, adj.R(2)=-0.016). Compared to the reference group of healthy children aged 7-12 years, children with PWS in the same age group had a median ToM developmental delay of 4 (3-5) years. One third of children with PWS scored positive for Autism Spectrum Disorder. Most prominent aberrations in Autism Spectrum Disorder were focused on maladaptive behavior. Our findings demonstrate a markedly reduced level of social cognitive functioning, which has consequences for the approach of children with PWS, i.e. adjustment to the child's level of social cognitive functioning. Copyright © 2013 Elsevier Ltd. All rights reserved.

  10. [Refeeding syndrome: a review of the literature].

    Science.gov (United States)

    Rohrer, S; Dietrich, J W

    2014-06-01

    The refeeding syndrome is a dangerous condition, which may even lead to death. The syndrome occurs after re-establishment of adequate nutrition in malnourished and cachectic patients. More specifically its occurrence has been reported during oral, enteral and parenteral feeding. Early diagnosis is crucial for adequate and timely therapy. However, due to a lack of knowledge in the community this is not always achieved. The leading symptom is hypophosphatemia, often accompanied by electrolyte disturbances and vitamin and trace element deficiencies. Due to a concomitant administration of carbohydrates and intravenous fluid volume it may also lead to hypervolemia with cardiac failure. Compromise of other organ functions with a varying degree of severity, even leading to death, have been reported. The most efficient prevention of the refeeding syndrom is recommended by an early identification of patients at risk and the administration of an initially lower caloric nutrition accompanied by a tight and regularly scheduled observation of relevant laboratory parameters. This literature research included the following terms: "refeeding syndrome" and "hypophosphataemia" including the 2006 guidelines from the National Institute for Health and Clinical Excellence (UK). © Georg Thieme Verlag KG Stuttgart · New York.

  11. Head circumference in untreated and IGF-I treated patients with Laron syndrome: comparison with untreated and hGH-treated children with isolated growth hormone deficiency.

    Science.gov (United States)

    Laron, Zvi; Iluz, Moshe; Kauli, Rivka

    2012-04-01

    Head circumference (HC) is a simple and practical measure of brain size, development and longitudinal measurements of the HC in childhood are an index of brain growth. To determine the effects of long IGF-I deficiency and treatment on HC in patients with Laron syndrome (LS). 20 untreated adult LS patients, aged 48.4±11.2 years and 13 LS patients treated between ages of 5.6±4 to 11.3±3 years were studied. 15 patients with congenital IGHD treated between age 6.1±4 and 13±4 by hGH served as controls. HC was expressed as standard deviation (SD) and Ht as SDS. HC was measured and plotted on Nellhaus charts. Linear height (Ht) was measured by a Harpenden Stadiometer. The mean HC deficit of the adult untreated LS males was -2.9±0.6 SD compared to a Ht deficit of -7.0±1.7 SDS. The HC of the LS adult females was -3.6±1 SD compared to a Ht SDS of -6.9±1.5 (pdeficit decreased only by 1.5 SDS. hGH treatment of cIGHD children increased the HC from -2.0±1.8 to 0.3±1.2 SD and the Ht SDS from -4.8±1.6 to 1.6±1.0. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. Identifying potential functional impact of mutations and polymorphisms: Linking heart failure, increased risk of arrhythmias and sudden cardiac death.

    Directory of Open Access Journals (Sweden)

    BENOIT eJAGU

    2013-09-01

    Full Text Available Researchers and clinicians have discovered several important concepts regarding the mechanisms responsible for increased risk of arrhythmias, heart failure and sudden cardiac death. One major step in defining the molecular basis of normal and abnormal cardiac electrical behaviour has been the identification of single mutations that greatly increase the risk for arrhythmias and sudden cardiac death by changing channel-gating characteristics. Indeed, mutations in several genes encoding ion channels, such as SCN5A, which encodes the major cardiac Na+ channel, have emerged as the basis for a variety of inherited cardiac arrhythmias such as long QT syndrome, Brugada syndrome, progressive cardiac conduction disorder, sinus node dysfunction or sudden infant death syndrome. In addition, genes encoding ion channel accessory proteins, like anchoring or chaperone proteins, which modify the expression, the regulation of endocytosis and the degradation of ion channel α-subunits have also been reported as susceptibility genes for arrhythmic syndromes. The regulation of ion channel protein expression also depends on a fine-tuned balance among different other mechanisms, such as gene transcription, RNA processing, post-transcriptional control of gene expression by miRNA, protein synthesis, assembly and post-translational modification and trafficking.

  13. Intermittent Brugada Syndrome Presenting with Syncope in an Adult Female

    Directory of Open Access Journals (Sweden)

    Patricia Chavez

    2014-01-01

    Full Text Available Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of 2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.

  14. Are women with severely symptomatic brugada syndrome different from men?

    NARCIS (Netherlands)

    Sacher, Frédéric; Meregalli, Paola; Veltmann, Christian; Field, Michael E.; Solnon, Aude; Bru, Paul; Abbey, Sélim; Jaïs, Pierre; Tan, Hanno L.; Wolpert, Christian; Lande, Gilles; Bertault, Valérie; Derval, Nicolas; Babuty, Dominique; Lacroix, Dominique; Boveda, Serge; Maury, Philippe; Hocini, Mélèze; Clémenty, Jacques; Mabo, Philippe; Lemarec, Hervé; Mansourati, Jacques; Borggrefe, Martin; Wilde, Arthur; Haïssaguerre, Michel; Probst, Vincent

    2008-01-01

    Women with Brugada Syndrome. INTRODUCTION: Spontaneous type-1 ECG has been recognized as a risk factor for sudden cardiac death (SCD) in Brugada syndrome (BrS), but studied populations predominantly consisted of men. We sought to investigate whether a spontaneous type-1 ECG pattern was also

  15. [Sudden death from hypoglycemia].

    Science.gov (United States)

    Asmundo, A; Aragona, M; Gualniera, P; Aragona, F

    1995-12-01

    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.

  16. [Causes of the people death from drunkenness and alcoholism].

    Science.gov (United States)

    Erokhin, Iu A; Paukov, V S; Kirillov, Iu A

    2012-01-01

    We analyzed causes of 1008 people death, who abused by alcohol. Among them 2 groups were separated out: people died due to drunkenness and due to alcoholism. The structure of the death was similar in the both groups, however depended on alcoholism stages. The major cause of the death in group of drunkenness people was acute heart insufficiency, less commonly--lung pathology, and very rarely--brain vessels pathology and liver cirrhosis. In group of people, who died due to alcoholism, lung pathology was the major cause of these deaths, acute heart insufficiency was occurred less commonly, and very rare brain pathology because of delirium tremens or alcohol withdrawal syndrome, as so liver cirrhosis with complications. Hemorrhagic pancreonecrosis after alcoholic excess was found out in both groups, but it was more often in people, who died due to drunkenness. Obtained results show importance of chronic alcoholism identification as a disease with several stages including drunkenness and alcoholism.

  17. Overset Wolff-Parkinson-White-syndrom

    DEFF Research Database (Denmark)

    Nielsen, Trine Skov; Dalager, Søren; Larsen, Maiken Kudahl

    2010-01-01

    An autopsy in a 28-year-old man did not explain the cause of sudden unexpected death. However, a history of episodes with tachycardia and dizziness and a reassessed previous electrocardiogram exhibiting ventricular pre-excitation was consistent with Wolff-Parkinson-White (WPW) syndrome...

  18. Complications of Cushing's syndrome: state of the art.

    Science.gov (United States)

    Pivonello, Rosario; Isidori, Andrea M; De Martino, Maria Cristina; Newell-Price, John; Biller, Beverly M K; Colao, Annamaria

    2016-07-01

    Cushing's syndrome is a serious endocrine disease caused by chronic, autonomous, and excessive secretion of cortisol. The syndrome is associated with increased mortality and impaired quality of life because of the occurrence of comorbidities. These clinical complications include metabolic syndrome, consisting of systemic arterial hypertension, visceral obesity, impairment of glucose metabolism, and dyslipidaemia; musculoskeletal disorders, such as myopathy, osteoporosis, and skeletal fractures; neuropsychiatric disorders, such as impairment of cognitive function, depression, or mania; impairment of reproductive and sexual function; and dermatological manifestations, mainly represented by acne, hirsutism, and alopecia. Hypertension in patients with Cushing's syndrome has a multifactorial pathogenesis and contributes to the increased risk for myocardial infarction, cardiac failure, or stroke, which are the most common causes of death; risks of these outcomes are exacerbated by a prothrombotic diathesis and hypokalaemia. Neuropsychiatric disorders can be responsible for suicide. Immune disorders are common; immunosuppression during active disease causes susceptibility to infections, possibly complicated by sepsis, an important cause of death, whereas immune rebound after disease remission can exacerbate underlying autoimmune diseases. Prompt treatment of cortisol excess and specific treatments of comorbidities are crucial to prevent serious clinical complications and reduce the mortality associated with Cushing's syndrome. Copyright © 2016 Elsevier Ltd. All rights reserved.

  19. Death and Death Anxiety

    OpenAIRE

    Gonca Karakus; Zehra Ozturk; Lut Tamam

    2012-01-01

    Although death and life concepts seem so different from each other, some believe that death and life as a whole that death is accepted as the goal of life and death completes life. In different cultures, societies and disciplines, there have been very different definitions of death which changes according to personality, age, religion and cultural status of the individual. Attitudes towards death vary dramatically according to individuals. As for the death anxiety, it is a feeling which start...

  20. SIDS and other sleep-related infant deaths: expansion of recommendations for a safe infant sleeping environment.

    Science.gov (United States)

    Moon, Rachel Y

    2011-11-01

    Despite 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 for sleep in a nonprone position, this decline has plateaued in recent years. Concurrently, other causes of sudden unexpected infant death occurring during sleep (sleep-related deaths), including suffocation, asphyxia, and entrapment, and ill-defined or unspecified causes of death have increased in incidence, particularly since the AAP published its last statement on SIDS in 2005. It has become increasingly important to address these other causes of sleep-related infant death. Many of the modifiable and nonmodifiable risk factors for SIDS and suffocation are strikingly similar. The AAP, therefore, is expanding its recommendations from being only SIDS-focused to focusing on a safe sleep environment that can reduce the risk of all sleep-related infant deaths including SIDS. The recommendations described in this report include supine positioning, use of a firm sleep surface, breastfeeding, room-sharing without bed-sharing, routine immunization, consideration of a pacifier, and avoidance of soft bedding, overheating, and exposure to tobacco smoke, alcohol, and illicit drugs. The rationale for these recommendations is discussed in detail in this technical report. The recommendations are published in the accompanying "Policy Statement--Sudden Infant Death Syndrome and Other Sleep-Related Infant Deaths: Expansion of Recommendations for a Safe Infant Sleeping Environment," which is included in this issue (www.pediatrics.org/cgi/doi/10.1542/peds.2011-2220).

  1. Interspecific variation of total seed protein in wild rice germplasm using SDS-Page

    International Nuclear Information System (INIS)

    Shah, S.M.A.; Hidayat-ur-Rahman; Abbasi, F.M.; Ashiq, M.; Rabbani, A.M.; Khan, I.A.; Shinwari, Z.K.; Shah, Z.

    2011-01-01

    Variation in seed protein of 14 wild rice species (Oryza spp.) along with cultivated rice species (O. sativa) was studied using sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE) to assess genetic diversity in the rice germplasm. SDS bands were scored as present (1) or absent (0) for protein sample of each genotype. On the basis of cluster analysis, four clusters were identified at a similarity level of 0.85. O. nivara, O. rufipogon and O. sativa with AA genomes constituted the first cluster. The second cluster comprised O. punctata of BB genome and wild rice species of CC genome i.e., O. rhizomatis and O. officinalis. However, it also contained O. barthii and O. glumaepatula of AA genome. O. australiensis with EE genome, and O. latifolia, O. alta and O. grandiglumis having CCDD genomes comprised the third cluster. The fourth cluster consisted of wild rice species, O. brachyantha with EE genome along with two other wild rice species, O. longistaminata and O. meridionalis of AA genome. Overall, on the basis of total seed protein, the grouping pattern of rice genotypes was mostly compatible with their genome status. The results of the present work depicted considerable interspecific genetic variation in the investigated germplasm for total seed protein. Moreover, the results obtained in this study also suggest that analysis of seed protein can also provide a better understanding of genetic affinity of the germplasm. (author)

  2. Influence of sodium dodecyl sulfonate (SDS) on the hydrothermal synthesis of YVO4:Eu3+ crystals in a wide pH range

    International Nuclear Information System (INIS)

    Wang Juan; Xu Yunhua; Hojamberdiev, Mirabbos; Zhu Gangqiang

    2009-01-01

    In this work, a facile hydrothermal route has been proposed for the morphology-controllable preparation of Eu-doped yttrium orthovanadate (YVO 4 :Eu 3+ ) powders in the presence of sodium dodecyl sulfonate (SDS) as a template in a wide pH range. The structure, composition, morphology, and optical properties of the final products were characterized by X-ray powder diffraction (XRD), scanning electron microscopy (SEM), transmission electron microscopy (TEM), and photoluminescence spectroscopy (PL), respectively. It was found that single phase YVO 4 :Eu 3+ micro- and nanocrystals with different shapes can be fabricated at 180 deg. C for 24 h with suitable amount of SDS in a wide pH range. The formation mechanism and the influence of SDS on the morphology of YVO 4 :Eu 3+ micro- and nanocrystals were investigated as a function of pH value. The PL measurement revealed that the samples with different morphologies exhibited different values for optical properties, especially soybean-like nanopowders showed a higher intensity compared to other samples with different morphologies due mainly to their high packing densities and low scattering of light.

  3. A Follow-up Study on BMI-SDS and Insulin Resistance in Overweight and Obese Children at Risk for Type 2 Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Soulmaz Fazeli Farsani PharmD, MSc

    2015-01-01

    Full Text Available Objectives. To evaluate body mass index standard deviation score (BMI-SDS, insulin sensitivity, and progression to type 2 diabetes mellitus (T2DM in children at risk for T2DM approximately 3 years after being diagnosed with overweight/obesity and insulin resistance (measured by Homeostasis Model Assessment of Insulin Resistance [HOMA-IR]. Methods. Out of 86 invited children, 44 (mean age 15.4 ± 3.6 years participated. Medical history, physical examination, and laboratory workup were performed. Results. While the mean BMI-SDS significantly increased from 2.9 to 3.4, the mean HOMA-IR significantly decreased from 5.5 to 4.6 (baseline vs follow-up visit. Change in HOMA-IR was only due to a decrease in mean fasting plasma insulin (24.1 vs 21.1, P = .073. Conclusions. Although increase in BMI-SDS in these children is worrisome, the American Diabetes Association recommended screening interval of 3 years for children at risk for T2DM is not too long based on the fact that none of our study participants developed T2DM.

  4. Multimodality cardiac imaging in Turner syndrome.

    Science.gov (United States)

    Mortensen, Kristian H; Gopalan, Deepa; Nørgaard, Bjarne L; Andersen, Niels H; Gravholt, Claus H

    2016-06-01

    Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner syndrome. This review illustrates how cardiovascular disease in Turner syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner syndrome.

  5. Metabolic syndrome and the risk of adverse cardiovascular events after an acute coronary syndrome.

    Science.gov (United States)

    Cavallari, Ilaria; Cannon, Christopher P; Braunwald, Eugene; Goodrich, Erica L; Im, KyungAh; Lukas, Mary Ann; O'Donoghue, Michelle L

    2018-05-01

    Background The incremental prognostic value of assessing the metabolic syndrome has been disputed. Little is known regarding its prognostic value in patients after an acute coronary syndrome. Design and methods The presence of metabolic syndrome (2005 International Diabetes Federation) was assessed at baseline in SOLID-TIMI 52, a trial of patients within 30 days of acute coronary syndrome (median follow-up 2.5 years). The primary endpoint was major coronary events (coronary heart disease death, myocardial infarction or urgent coronary revascularization). Results At baseline, 61.6% ( n = 7537) of patients met the definition of metabolic syndrome, 34.7% (n = 4247) had diabetes and 29.3% had both ( n = 3584). The presence of metabolic syndrome was associated with increased risk of major coronary events (adjusted hazard ratio (adjHR) 1.29, p metabolic syndrome was numerically but not significantly associated with the risk of major coronary events (adjHR 1.13, p = 0.06). Conversely, diabetes was a strong independent predictor of major coronary events in the absence of metabolic syndrome (adjHR 1.57, p metabolic syndrome identified patients at highest risk of adverse outcomes but the incremental value of metabolic syndrome was not significant relative to diabetes alone (adjHR 1.07, p = 0.54). Conclusions After acute coronary syndrome, diabetes is a strong and independent predictor of adverse outcomes. Assessment of the metabolic syndrome provides only marginal incremental value once the presence or absence of diabetes is established.

  6. Thermodynamic and structural investigation of the specific SDS binding of humicola insolens cutinase

    DEFF Research Database (Denmark)

    Kold, David; Dauter, Zbigniew; Laustsen, Anne K

    2014-01-01

    The interaction of lipolytic enzymes with anionic surfactants is of great interest with respect to industrially produced detergents. Here, we report the interaction of cutinase from the thermophilic fungus Humicola insolens with the anionic surfactant SDS, and show the enzyme specifically binds...... of the enzyme has been solved by X-ray crystallography in its apo form and after cocrystallization with diethyl p-nitrophenyl phosphate (DNPP) leading to a complex with monoethylphosphate (MEP) esterified to the catalytically active serine. The enzyme has the same fold as reported for other cutinases but...

  7. Low Triiodothyronine Syndrome and Long-Term Cardiovascular Outcome in Incident Peritoneal Dialysis Patients.

    Science.gov (United States)

    Chang, Tae Ik; Nam, Joo Young; Shin, Sug Kyun; Kang, Ea Wha

    2015-06-05

    A direct association between low triiodothyronine (T3) syndrome and cardiovascular (CV) mortality has been reported in hemodialysis patients. However, the implications of this syndrome in peritoneal dialysis (PD) patients have not been properly investigated. This study examined the association between low T3 syndrome and CV mortality including sudden death in a large cohort of incident PD patients. This prospective observational study included 447 euthyroid patients who started PD between January 2000 and December 2009. Measurement of thyroid hormones was performed at baseline. All-cause and cause-specific deaths were registered during the median 46 months of follow-up. The survival rate was compared among three groups based on tertile of T3 levels. In Kaplan-Meyer analysis, patients with the lowest tertile were significantly associated with higher risk of all-cause and CV mortality including sudden death (P<0.001 for trend). In Cox analyses, T3 level was a significant predictor of all-cause mortality (per 10-unit increase, adjusted hazard ratio [HR], 0.86; 95% confidence interval [95% CI], 0.78 to 0.94; P=0.002), CV death (per 10-unit increase, adjusted HR, 0.84; 95% CI, 0.75 to 0.98; P=0.01), and sudden death (per 10-unit increase, adjusted HR, 0.69; 95% CI, 0.56 to 0.86; P=0.001) after adjusting for well known risk factors including inflammation and malnutrition. The higher T3 level was also independently associated with lower risk for sudden death (per 10-unit increase, adjusted HR, 0.71; 95% CI, 0.56 to 0.90; P=0.01) even when accounting for competing risks of death from other causes. T3 level at the initiation of PD was a strong independent predictor of long-term CV mortality, particularly sudden death, even after adjusting well known risk factors. Low T3 syndrome might represent a factor directly implicated in cardiac complications in PD patients. Copyright © 2015 by the American Society of Nephrology.

  8. Can sudden cardiac death in the young be predicted and prevented? Lessons from autopsy for the emergency physician.

    Science.gov (United States)

    White, Jennifer L; Chang, Anna Marie; Cesar, Sergi; Sarquella-Brugada, Georgia

    2018-06-01

    Sudden unexpected death in the young, though rare, is devastating for both the family and the community. Although only 1.3 to 8.5 cases of sudden cardiac death (SCD) occur per 100 000 young people, autopsy is often inconclusive. Many causes of SCD are related to autosomal dominant inherited risk, however; therefore, answers are important for survivors. Causes of autopsy-positive SCD in young patients include hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia. Autopsy-negative SCD has been related to inherited arrhythmogenic causes such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, Wolff- Parkinson-White syndrome, and idiopathic ventricular fibrillation. The important question for the emergency physician is how SCD can be predicted and prevented in the young so that there is no need for an autopsy.

  9. Conformational studies of peptides representing a segment of TM7 from Vo-H+-V-ATPase in SDS micelles

    NARCIS (Netherlands)

    Duarte, A.M.; Jong, de E.R.; Koehorst, R.B.M.; Hemminga, M.A.

    2010-01-01

    The conformation of a transmembrane peptide, sMTM7, encompassing the cytoplasmic hemi-channel domain of the seventh transmembrane section of subunit a from V-ATPase from Saccharomyces cerevisiae solubilized in SDS solutions was studied by circular dichroism (CD) spectroscopy and fluorescence

  10. Twin-twin transfusion syndrome - diagnosis and prognosis

    Directory of Open Access Journals (Sweden)

    Hajrić-Egić Amira

    2003-01-01

    Full Text Available Twin-twin transfusion syndrome is a serious complication of monozygotic, monochorionic, diamniotic twins resulting from transplacental vascular communications. In this syndrome blood is thought to be shunted from one twin - donor,who develops anaemia,growth retardation and oligoamnios, to the other twin - recipient,who becomes plethoric,macrosomic and develops polyhydroamnios. The incidence of twin-twin transfusion syndrome ranges from 5-15% of all twin pregnancies. If this condition develops in the second trimester, it is usually associated with spontaneous abortion and death of one or both fetuses before viability. Developing the syndrome in the third trimester has better perinatal outcome. Mortality rates ranging from 56%-100%, depending on gestational age and severity of the syndrome. The ultrasound criterias for diagnosis, in this study,were the presence of twins of the same sex with discordant growth, with oligohydroamnios in one twin sac and polyhydroamnios in the other one, one placenta and thin membrane between twins. The present study shows clinical course of 14 cases and value of Doppler ultrasound to analyze the usefulness of umbilical artery blood flow velocimetry for predicting the risk of twin-twin transfusion syndrome. 14 twin pregnancies with twin-twin transfusion syndrome were diagnosed during the last four years period and prospectivelly followed. 9 cases were diagnosed before the completion od 28 weeks of gestation.The mean gestational age was 21,6_+4,2 weeks at diagnosis and 23,2+_3,6 weeks at delivery. 5 cases were diagnosed after 28 weeks of gestation. The mean gestational age in this group was 29,6+_2,1 weeks at diagnosis and 33+_3,3 weeks at delivery. The survival rate in this study was 29%(8/28.9 cases ended in spontaneous abortion between 18th and 27th weeks of pregnancy (table 1 and 5 in premature labor (table 2.There were 7 intrauterine death (5 at admission and 2 few days after admission and 13 neonatal deaths

  11. Assessment of genetic variability in Trigonella foenum-graecum L. germplasm by SDS-page analysis

    Directory of Open Access Journals (Sweden)

    Qadir Abdul

    2017-01-01

    Full Text Available The 96 genotypes of Trigonella foenum-graecum L. (Fenugreek were estimated by using Sodium Dodecyl Sulphate Poly Acrylamide Gel Electrophoresis (SDS-PAGE. The accessions were maintained from diverse ecological areas of the world. Total seed storage proteins were electrophoresis on 12.5% polyacrylamide gels. A total of 17 protein bands were detected, of which seven were highly polymorphic and six were moderate polymorphic and four were low polymorphic with molecular weight extending from of ~15 to ~180 kDa. The dendrogram based on similarity matrix using Unweighted Pair Group Method with Arithmetic Mean (UPGMA divided all the genotypes into four major clusters i.e., I, II, III and IV comprising 51, 24, 10 and 11 accessions, respectively. Although limited genetic diversity was detected amongst known germplasm but the presence/absence of polymorphic bands revealed a significant variances among different Trigonella genotypes. The differences exposed in this project work should be oppressed for the future breeding prospective of Trigonella genotypes by using other advanced molecular techniques. The SDS-PAGE per se seems inadequate tool for such kind of analysis, and may be integrated with other genetic and sequence based approaches for more precise estimation of the genetic variability within closely related accessions. Our results provide baseline for obtaining locally adapted and improved cultivars of fenugreek in Pakistan.

  12. The death of Wolfgang Amadeus Mozart: an epidemiologic perspective.

    Science.gov (United States)

    Zegers, Richard H C; Weigl, Andreas; Steptoe, Andrew

    2009-08-18

    The early death of the composer Wolfgang Amadeus Mozart on 5 December 1791 has fascinated the world for more than 2 centuries. It has been suggested that his final illness was caused by poisoning, renal failure, Henoch-Schönlein purpura, trichinosis, and many other conditions. The official daily register of deaths in Mozart's Vienna was evaluated to provide an epidemiologic framework into which the observations of contemporary witnesses of his death can be integrated. All recorded deaths in Vienna during November and December 1791 and January 1792 were analyzed, together with the corresponding periods in 1790 to 1791 and 1792 to 1793. The deaths of 5011 adults (3442 men, 1569 women) were recorded over these periods. The mean ages of death were 45.5 years (SD, 18.5) for men and 54.5 years (SD, 19.9) for women. Tuberculosis and related conditions accounted for the highest number of deaths; cachexia and malnutrition ranked second, and edema was the third most common cause. According to eyewitness accounts, the hallmark of Mozart's final disease was severe edema. Deaths from edema were markedly increased among younger men in the weeks surrounding Mozart's death compared with the previous and following years. This minor epidemic may have originated in the military hospital. Our analysis is consistent with Mozart's last illness and death being due to a streptococcal infection leading to an acute nephritic syndrome caused by poststreptococcal glomerulonephritis. Scarlet fever, which represents the same underlying disease from an etiologic perspective, is a less likely possibility.

  13. Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.

    Directory of Open Access Journals (Sweden)

    Claudia Orelio

    Full Text Available Shwachman-Diamond Syndrome (SDS is a rare inherited disease caused by mutations in the SBDS gene. Hematopoietic defects, exocrine pancreas dysfunction and short stature are the most prominent clinical features. To gain understanding of the molecular properties of the ubiquitously expressed SBDS protein, we examined its intracellular localization and mobility by live cell imaging techniques. We observed that SBDS full-length protein was localized in both the nucleus and cytoplasm, whereas patient-related truncated SBDS protein isoforms localize predominantly to the nucleus. Also the nucleo-cytoplasmic trafficking of these patient-related SBDS proteins was disturbed. Further studies with a series of SBDS mutant proteins revealed that three distinct motifs determine the intracellular mobility of SBDS protein. A sumoylation motif in the C-terminal domain, that is lacking in patient SBDS proteins, was found to play a pivotal role in intracellular motility. Our structure-function analyses provide new insight into localization and motility of the SBDS protein, and show that patient-related mutant proteins are altered in their molecular properties, which may contribute to the clinical features observed in SDS patients.

  14. Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome

    Directory of Open Access Journals (Sweden)

    Insook Jeong

    2016-03-01

    Full Text Available PurposeNoonan syndrome (NS is characterized by short stature, heart anomalies, developmental delays, dysmorphic features, cryptorchidism, and coagulation defects. Several studies reported the short-term effects of recombinant human growth hormone (rhGH treatment on the improvement of height. This study was performed to evaluate the long-term efficacy of rhGH in children with NS in Korea.MethodsThis study included 15 prepubertal NS children who received rhGH subcutaneously at a dose of 50–75 µg/kg/day for 6 days a week for at least >3 years. Preand posttreatment data, such as height, weight, bone age, insulin-like growth factor 1 (IGF-1, and IGF binding protein 3 (IGFBP-3 levels, were collected every 6 months.ResultsChronologic age and bone age at the start of treatment were 7.97±1.81 and 5.09±2.12 years, respectively. Height standard deviation score (SDS was increased from –2.64±0.64 to –1.54±1.24 years after 3 years (P<0.001. Serum IGF-1 SDS levels were elevated from –1.28±1.03 to –0.10±0.94 (P<0.001. Height SDS was more increased in subjects without PTPN11 mutations compared to those with mutations after 3 years (P=0.012. However, the other parameters, including bone age, IGF-1 SDS, and IGFBP-3 SDS, were not significantly different between patients with and without PTPN11 mutations.ConclusionAlthough this study included a relatively small number of patients, long-term rhGH therapy in NS patients was safe and effective at improving height, growth velocity, and serum IGF-1 levels, in accordance with previous studies. However, the meticulous monitoring of potential adverse events is still needed because of high dose of rhGH and preexisting hyperactivity of RAS-MAPK pathway. Patients with PTPN11 mutations demonstrated a decreased response to rhGH therapy compared to those without mutations.

  15. The corrosion properties of phosphate coating on AZ31 magnesium alloy: The effect of sodium dodecyl sulfate (SDS) as an eco-friendly accelerating agent

    Energy Technology Data Exchange (ETDEWEB)

    Amini, R. [Department of Polymer Engineering and Color Technology, AmirKabir University of Technology, P.O. Box 15875-4413, Tehran (Iran, Islamic Republic of); Sarabi, A.A., E-mail: sarabi@aut.ac.ir [Department of Polymer Engineering and Color Technology, AmirKabir University of Technology, P.O. Box 15875-4413, Tehran (Iran, Islamic Republic of)

    2011-06-01

    Sodium nitrite has been used as an accelerating agent in phosphating bath to improve its properties. However, it is well known that sodium nitrite is a carcinogenic component in phosphating sludge. In this study, it has been aimed to replace sodium nitrite by an environmentally friendly accelerating agent. To this end, sodium dodecyl sulfate (SDS) was used in phosphating bath to improve the phosphate coating formation on an AZ31 magnesium alloy. The effect of SDS/sodium nitrite ratio on the phosphated samples properties was also studied. Using field emission scanning electron microscope (FE-SEM), X-ray diffraction (XRD), direct current (DC) polarization and electrochemical impedance spectroscopy (EIS) the properties of phosphated magnesium samples were studied. Results showed uniform phosphate coating formation on the magnesium sample mostly in hopeite phase composition. In addition, a denser and less permeable coating can be obtained at these conditions. The corrosion resistance of the phosphated samples was superiorly improved using higher SDS concentration in the phosphating bath.

  16. The corrosion properties of phosphate coating on AZ31 magnesium alloy: The effect of sodium dodecyl sulfate (SDS) as an eco-friendly accelerating agent

    International Nuclear Information System (INIS)

    Amini, R.; Sarabi, A.A.

    2011-01-01

    Sodium nitrite has been used as an accelerating agent in phosphating bath to improve its properties. However, it is well known that sodium nitrite is a carcinogenic component in phosphating sludge. In this study, it has been aimed to replace sodium nitrite by an environmentally friendly accelerating agent. To this end, sodium dodecyl sulfate (SDS) was used in phosphating bath to improve the phosphate coating formation on an AZ31 magnesium alloy. The effect of SDS/sodium nitrite ratio on the phosphated samples properties was also studied. Using field emission scanning electron microscope (FE-SEM), X-ray diffraction (XRD), direct current (DC) polarization and electrochemical impedance spectroscopy (EIS) the properties of phosphated magnesium samples were studied. Results showed uniform phosphate coating formation on the magnesium sample mostly in hopeite phase composition. In addition, a denser and less permeable coating can be obtained at these conditions. The corrosion resistance of the phosphated samples was superiorly improved using higher SDS concentration in the phosphating bath.

  17. Esthesioneuroblastoma in Maffucci's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kurian, Sobha; Crowell, Edward B. [West Virginia University, Section of Hematology/Oncology, Department of Medicine, Health Science Center, Morgantown (United States); Ertan, Esmer; Rassekh, Christopher [West Virginia University, Department of Otolaryngology, Morgantown (United States); Ducatman, Barbara [West Virginia University, Department of Pathology, Morgantown (United States)

    2004-10-01

    Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

  18. Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

    Science.gov (United States)

    Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

    2017-05-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

  19. Paraneoplastic cushing syndrome due to wilm's tumor

    International Nuclear Information System (INIS)

    Faizan, M.; Anwar, S.; Hameed, A.; Manzoor, J.; Saleem, M.; Mehmood, Q.; Ali, A. S.

    2017-01-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, alongwith histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed. (author)

  20. Use of statins in cardiorenal syndrome : possibilities for its treatment and prevention

    Directory of Open Access Journals (Sweden)

    A. M. Minasyan

    2014-07-01

    Full Text Available Cardiovascular diseases are the major cause of disease and death not only in the general population, but also in patients with chronic kidney disease. The growing morbidity and mortality from chronic kidney disease and chronic heart failure conduce to an increase in cases of cardiorenal syndrome. Along with angiotensin-converting enzyme inhibitors, β-adrenoblockers, antianemic drugs, and diuretics, statins are appropriate and recommended by a number of trials for the prevention and treatment of the cardiorenal syndrome. Statins are effective in preventing the cardiorenal syndrome in patients at its high risk, improve quality of life and survival; in predialysis patients with chronic kidney disease, they may be secondary prevention of cardiovascular death.

  1. NMR structure of the Arctic mutation of the Alzheimer's Aβ(1-40) peptide docked to SDS micelles

    Science.gov (United States)

    Usachev, K. S.; Filippov, A. V.; Khairutdinov, B. I.; Antzutkin, O. N.; Klochkov, V. V.

    2014-11-01

    The “Arctic” point mutation of the Alzheimer's amyloid β-peptide is a rare mutation leading to an early onset of Alzheimer's disease. The peptide may interact with neuronal membranes, where it can provide its toxic effects. We used 2D NMR spectroscopy to investigate the conformation of the “Arctic” mutant of Aβ1-40 Alzheimer's amyloid peptide in sodium dodecyl sulfate micelle solutions, which are the type of amphiphilic structures mimicking some properties of biomembranes. The study showed that the Arctic mutant of Aβ1-40 interacts with the surface of SDS micelles mainly through the Leu17-Asn27 310-helical region, while the Ile31-Val40 region is buried in the hydrophobic interior of the micelle. In contrast, wild-type Aβ1-40 interacts with SDS micelles through the Lys16-Asp23 α-helical region and Gly29-Met35. Both the Arctic mutant and the wild-type Aβ1-40 peptides interactions with SDS micelles are hydrophobic in nature. Aβ peptides are thought to be capable of forming pores in biomembranes that can cause changes in neuronal and endothelial cell membrane permeability. It has also been shown that Aβ peptides containing the “Arctic” mutation are more neurotoxic and aggregate more readily than the wild-type Aβ peptides at physiological conditions. Here, we propose that the extension of the helical structure of Leu17-Asn27 and a high aliphaticity (neutrality) of the C-terminal region in the Arctic Aβ peptides are consistent with the idea that formation of ion-permeable pores by Aβ oligomers may be one of prevailing mechanisms of a larger neuronal toxicity of the Arctic Aβ compared to the wild-type Aβ peptides, independent of oxidative damage and lipid peroxidation.

  2. Perinatal Fluoxetine Exposure Impairs the CO2 Chemoreflex. Implications for Sudden Infant Death Syndrome.

    Science.gov (United States)

    Bravo, Karina; Eugenín, Jaime L; Llona, Isabel

    2016-09-01

    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 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.

  3. IARS mutation causes prenatal death in Japanese Black cattle.

    Science.gov (United States)

    Hirano, Takashi; Matsuhashi, Tamako; Takeda, Kenji; Hara, Hiromi; Kobayashi, Naohiko; Kita, Kazuo; Sugimoto, Yoshikazu; Hanzawa, Kei

    2016-09-01

    Isoleucyl-tRNA synthetase (IARS) c.235G > C (p.V79L) is a causative mutation for a recessive disease called IARS disorder in Japanese black cattle. The disease is involved in weak calf syndrome and is characterized by low birth weight, weakness and poor suckling. The gestation period is often slightly extended, implying that intrauterine growth is retarded. In a previous analysis of 2597 artificial insemination (AI) procedures, we suggested that the IARS mutation might contribute toward an increase in the incidence of prenatal death. In this study, we extended this analysis to better clarify the association between the IARS mutation and prenatal death. The IARS genotypes of 92 animals resulting from crosses between carrier (G/C) × G/C were 27 normal (G/G), 55 G/C and 10 affected animals (C/C) (expected numbers: 23, 46 and 23, respectively). Compared to the expected numbers, there were significantly fewer affected animals in this population (P causes calf death, but also embryonic or fetal death. © 2016 Japanese Society of Animal Science.

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

    Science.gov (United States)

    Byard, Roger W; Lee, Vivian

    2012-11-01

    The use of different definitions of sudden infant death syndrome (SIDS) may make comparison of data among studies difficult. Fifty randomly selected papers dealing with SIDS that were published between 2010 and 2011 in peer-reviewed journals were reviewed to determine whether one of three internationally accepted definitions of SIDS had been either written in the text or referenced. A significant improvement in the use of definitions has occurred since 2005, with the percentage of papers either quoting or referencing a standard definition increasing by 26%, from 42 to 68%. The 1989 NICHD definition remained the most commonly used definition (35.1%) followed by the 2004 San Diego definition (26.3%). Although the percentage of papers where either no definition was provided or where an idiosyncratic or mis-cited definition was used fell 26%, from 58 to 32%, nearly one in three papers published on SIDS in peer-reviewed journals that were included in this study still did not cite a standard definition. Copyright © 2012 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  5. SDS-Page Seed Storage Protein Profiles in Chili Peppers (Capsicum L.

    Directory of Open Access Journals (Sweden)

    Owk ANIEL KUMAR

    2010-09-01

    Full Text Available Seed protein banding patterns (SDS-PAGE were studied from eighteen genotypes of chili pepper (Capsicum L. A total of 21 protein polypeptide bands with molecular weight ranging from 18.6 to 72.0 kD were recorded. Among the genotypes CA18, CA21 and CA27 represented maximum number of protein bands (12. Band no. (11 and (5,12 are exclusive to C. annuum L. and C. frutescens L. genotypes respectively. Average percent similarity was highest (100% between CA2 and CA8 genotypes and the UPGMA dendrogram represented low genetic diversity. The study revealed that considerable intra and inter-specific differences were found in the genotypes. The variability of protein profiles in the genotypes suggested that these selected genotypes can be a good source for crop improvement through hybridization programs.

  6. Avances de la política pública distrital de salud en discapacidad : sistema de información en discapacidad de la SDS

    OpenAIRE

    Hernández Jaramillo, Janeth; Universidad del Rosario, Escuela de Medicina y Ciencias de la Salud. Grupo de Investigación en Rehabilitación e Integración Social de la Persona con Discapacidad

    2008-01-01

    En el desarrollo del Convenio de cooperación en asistencia técnica, investigación y capacitación para la “Implementación de la Política Sectorial en Salud para la Prevención y Manejo de la Discapacidad en Bogotá”, suscrito entre la Secretaría Distrital de Salud (SDS) y la Universidad del Rosario (SDS-UR 1004/05) se ha puesto de manifiesto los esfuerzos varios en términos de registrar y sistematizar la información que sobre discapacidad se produce y usa en el nivel distrital, ...

  7. Case report of sudden death in a child with Williams syndrome ...

    African Journals Online (AJOL)

    A two year old child, confirmed with Williams syndrome (WS) ... and no relevant cardiac history such as chest pain or episodes ... brain, abdominal and pelvic organ blocks. .... a fully functional operating theatre complex presents a number.

  8. Nicolau syndrome following intramuscular benzathine penicillin

    Directory of Open Access Journals (Sweden)

    De Sousa R

    2008-01-01

    Full Text Available Nicolau syndrome (NS is a rare complication of an intramuscular injection characterized by severe pain, skin discoloration, and varying levels of tissue necrosis. The case outcomes vary from atrophic ulcers and severe pain to sepsis and limb amputation. We describe a case of a seven-year-old boy with diagnosis of NS after intramuscular benzathine penicillin injection to the ventrolateral aspect of the left thigh. Characteristic violaceous discoloration of skin and immediate injection site pain identified it as a case of NS. The case was complicated by rapid progression of compartment syndrome of the lower limb, proceeding to acute renal failure and death. Associated compartment syndrome can be postulated as a poor prognostic factor for NS.

  9. Estimation of AOT and SDS CMC in a methanol using conductometry, viscometry and pyrene fluorescence spectroscopy methods

    Science.gov (United States)

    Mitsionis, Anastasios I.; Vaimakis, Tiverios C.

    2012-09-01

    Critical micelle concentration (CMC) of two anionic surfactants in methanol was estimated using conductometry, viscometry and pyrene fluorescence spectroscopy methods. The surfactants used, were sodium bis(2-ethylhexyl) sulfosuccinate (Aerosol-OT, AOT) and sodium dodecyl sulfate (SDS) dispersed in pure methanol. The CMC determination was evaluated in room temperature. The results have shown nearly similar concentrations.

  10. BETA-THALASSEMIA SYNDROMES, CLINICAL AND LABORATORY APPROACH

    OpenAIRE

    Türkkan, Emine; Berrak, Su Gülsün; Canpolat, Cengiz

    2016-01-01

    The Beta ((3) thalassemia syndromes are a heterogeneous group of genetic disorders. The frequency of thalassemia is dependent on the ethnic origins of the patient population. Turkey is located in a geographic area of the world where thalassemia syndromes are common. The incidence rate of (3-thalassemia carriers was stated to be 2 per cent in Turkey. Clinical manifestations are diverse and range from asymptomatic hypochromia and microcytosis to profound anemia leading to death in early childho...

  11. Detection of Fusarium spp. and Trichoderma spp. and antagonism of Trichoderma sp. in soybean under no-tillage

    Directory of Open Access Journals (Sweden)

    Paola Mendes Milanesi

    2013-12-01

    Full Text Available This study aimed i to quantify the occurrence of Fusarium spp. and Trichoderma spp. in rhizospheric soil, with and without symptoms of Sudden Death Syndrome (SDS in eight soybean genotypes; ii morphologically identify isolates of Fusarium spp. from roots with SDS; iii evaluate the antagonism between Trichoderma spp. and Fusarium spp. isolates from rhizospheric soil and roots from with and without SDS, respectively; and iv characterize through the ITS1-5.8S-ITS2 region of rDNA the isolates of Trichoderma spp. with better performance in the direct confrontation. The sampling of soil and roots was performed in an experimental area located in Cruz Alta, RS, Brazil. In the laboratory, serial dilutions of soil samples, counting of the number of Colony Forming Units (UFCs/g-1 of rhizospheric soil were performed as well as isolation for identification of isolates of Fusarium spp. and Trichoderma spp. and testing of direct confrontation. There were significant differences between the population of Trichoderma spp. in the rhizosphere of plants with and without symptoms of SDS. For the population of Fusarium spp., significant difference was observed only in the rhizosphere of plants without symptoms of SDS. In diseased roots the following species were identified: F. solani, F. avenaceum, F. graminearum, F. oxysporum and F. verticillioides. In the test of direct confrontation, eight isolates of Trichoderma spp. achieved the best performance in the antagonism to Fusarium spp. and Trichoderma spp. from areas with symptoms of SDS had a higher control efficiency in vitro. These isolates showed high similarity to the species of T. koningii agregate.

  12. A novel electrochemical sensor for detecting hyperin with a nanocomposite of ZrO2-SDS-SWCNTs as decoration.

    Science.gov (United States)

    Li, Shuo; Lei, Sheng; Yu, Qian; Zou, Lina; Ye, Baoxian

    2018-08-01

    A novel high-sensitive electrochemical sensor with glassy carbon electrode (GCE) as support for hyperin determination is successfully designed and constructed, and the well-shaped nano-meter modified material is synthesized via a one-step and facile route. Functionalized with surfactant sodium dodecyl sulfate (SDS), Single-Walled Carbon Nanotubes (SWCNTs) are synchronously grafted with ZrO 2 nanoparticles to develop into the as-prepared nano-composite (ZrO 2 -SDS-SWCNTs). Compared to the previous reports related with hyperin detection, the linear range gets wider and detection limit (LOD) becomes lower with the aid of this novel nano-composite modified glassy carbon electrode (ZrO 2 -SDS-SWCNTs/GCE). The crystalline phases and functionalization of the preparation process has been investigated by X-ray diffraction (XRD) and Fourier transform infrared (FT-IR) instrument analysis, respectively, and the micro-morphology of related modified materials is also visibly characterized by scanning electron microscope (SEM) and transmission electron microscope (TEM). In addition, electrochemical properties of the modified materials are comparably explored by means of impedance spectroscopy (EIS) and cyclic voltammograms (CV). According to the established calibration curve under optimized condition, the peak current (Differential pulse voltammetry (DPV) signal) keeps a linear relationship with hyperin concentration in the ranges of 1.0 × 10 -9 - 3.0 × 10 -7 mol L -1 , meanwhile detection limit reaches as low as 5 × 10 -10 mol L -1 (S/N = 3). As for practical applications, the proposed sensor has also worked well on sensitive hyperin determination in real species Abelmoschus manihot. Copyright © 2018 Elsevier B.V. All rights reserved.

  13. Job-related diseases and occupations within a large workers' compensation data set.

    Science.gov (United States)

    Leigh, J P; Miller, T R

    1998-03-01

    The objective of this report is to describe workers' job-related diseases and the occupations associated with those diseases. The methods include aggregation and analysis of job-related disease and occupation data from the Bureau of Labor Statistics' Supplementary Data System (SDS) for 1985 and 1986--the last years of data available with workers' compensation categories: death, permanent total, permanent partial, and temporary total and partial. Diseases are ranked according to their contribution to the four workers' compensation (WC) categories and also ranked within occupations according to the number of cases. Occupations are ranked according to their contribution to specific diseases within one of the four categories. The following diseases comprise the greatest numbers of deaths: heart attacks, asbestosis, silicosis, and stroke. Within the permanent total category, the diseases with the greatest contributions are heart attack, silicosis, strokes, and inflammation of the joints. For the permanent partial category, they are hearing loss, inflammation of joints, carpal tunnel syndrome, and heart attacks. For the temporary total and partial category, they are: inflammation of joints, carpal tunnel syndrome, dermatitis, and toxic poisoning. Hearing loss or inflammation of joints are associated with more than 300 occupations. Circulatory diseases comprise a larger share of job-related diseases than is generally acknowledged. Occupations contributing the most heart attack deaths are truck drivers, managers, janitors, supervisors, firefighters, and laborers. Ratios of numbers of deaths to numbers of disabilities are far higher for illnesses than injuries. Occupations that are consistent in their high ranking on most lists involving a variety of conditions include nonconstruction laborers, janitors, and construction laborers. The large SDS, though dated, provides a tentative national look at the broad spectrum of occupational diseases as defined by WC and the

  14. Effect of Sodium Dodecyl Sulfate (SDS) and Tween 80 on Cell Viability in an Air-Cathode Microbial Fuel Cell

    KAUST Repository

    Fregoso, Luisa

    2011-07-01

    Microbial fuel cells (MFCs) generate current via electrochemical reactions produced by bacteria attached to the anode that oxidize organic matter. Due to their high volume use in household products, some concentration of surfactant will reach wastewater treatment plants. The average surfactant concentration in wastewater ranges from 10 to 20 mg L-1, and up to 300 mg L-1, for domestic and industrial wastewaters, respectively. This study aimed to demonstrate the feasibility of enhancing power production by adding Tween 80 and SDS surfactants to air-cathode MFCs, and their effect in cell viability at the anodic biofilm. In order to analyze the effect of anionic and nonionic surfactants in MFCs performance, eight MFCs were spiked with two types of surfactants, the anionic surfactant sodium dodecyl sulfate (SDS) and the nonionic surfactant Tween® 80 at two different concentrations 10 and 100 mg L-1. Cell viability at the anodic biofilms was examined using the LIVE/DEAD BacLight viability assay and images were visualized with a confocal laser scanning microscope. The electrochemical results demonstrate that, for an air-cathode MFC operating on 1 g L-1 acetate in a fed-batch mode, reactors where SDS was added show a lower overall performance, maximum PD of 544 mW m-2, CE of 12.3%, Rint of 322 Ω (10 mg L-1) and maximum PD of 265 mW m-2, CE of 9.4%, Rint of 758 Ω (100 mg L-1). Reactors where Tween 80 was added show quite stable performance, maximum PD of 623 mW m-2, CE of 15.4%, Rint of 216 Ω (10 mg L-1) and maximum PD of 591 mW m-2, CE of 10.8%, Rint of 279 Ω (100 mg L-1), compared with reactors operating at only acetate as a substrate, maximum PD of 574 mW m-2. Confocal microscopy images confirm this observation and biofilm viability appeared severely compromised in SDS reactors, especially at high concentrations. This study has opened up a whole new research area in determining which types of surfactants are toxic to the anodic biofilm and to further investigate the

  15. Cardiovascular Changes in Animal Models of Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Alexandre M. Lehnen

    2013-01-01

    Full Text Available Metabolic syndrome has been defined as a group of risk factors that directly contribute to the development of cardiovascular disease and/or type 2 diabetes. Insulin resistance seems to have a fundamental role in the genesis of this syndrome. Over the past years to the present day, basic and translational research has used small animal models to explore the pathophysiology of metabolic syndrome and to develop novel therapies that might slow the progression of this prevalent condition. In this paper we discuss the animal models used for the study of metabolic syndrome, with particular focus on cardiovascular changes, since they are the main cause of death associated with the condition in humans.

  16. Programmed Ventricular Stimulation for Risk Stratification in the Brugada Syndrome: A Pooled Analysis

    NARCIS (Netherlands)

    Sroubek, Jakub; Probst, Vincent; Mazzanti, Andrea; Delise, Pietro; Hevia, Jesus Castro; Ohkubo, Kimie; Zorzi, Alessandro; Champagne, Jean; Kostopoulou, Anna; Yin, Xiaoyan; Napolitano, Carlo; Milan, David J.; Wilde, Arthur; Sacher, Frederic; Borggrefe, Martin; Ellinor, Patrick T.; Theodorakis, George; Nault, Isabelle; Corrado, Domenico; Watanabe, Ichiro; Antzelevitch, Charles; Allocca, Giuseppe; Priori, Silvia G.; Lubitz, Steven A.

    2016-01-01

    The role of programmed ventricular stimulation in identifying patients with Brugada syndrome at the highest risk for sudden death is uncertain. We performed a systematic review and pooled analysis of prospective, observational studies of patients with Brugada syndrome without a history of sudden

  17. Inherited Wolff–Parkinson–White Syndrome

    Directory of Open Access Journals (Sweden)

    Yang Liu, MD, PhD

    2016-02-01

    Full Text Available Wolff–Parkinson–White (WPW syndrome is a congenital disorder of cardiac conduction system characterized by electrocardiographic preexcitation and episodes of paroxysmal supraventricular tachycardia. It is caused by a cardiac developmental defect in the electrical insulation between the atria and the ventricles due to the presence of an accessory pathway. WPW syndrome is a common cause of supraventricular tachycardia with benign prognosis. However, this clinical entity also predisposes patients to an increased risk of sudden cardiac death, especially in the setting of preexcited atrial fibrillation. WPW syndrome is usually sporadic and of unknown etiology in most cases. During the past 10 years, a significant heritable factor is increasingly recognized. Identification of the genetic basis among patients with WPW syndrome has important implications for understanding the molecular mechanism of ventricular preexcitation and the development of therapeutic strategies for risk stratification and management. The goal of this review is to examine the previous studies on hereditary variants, as well as to outline potential future avenues toward defining the heritability of WPW syndrome.

  18. Low cerebrospinal fluid hypocretin levels during sudden infant death syndrome (SIDS) risk period.

    Science.gov (United States)

    Lancien, Marion; Inocente, Clara Odilia; Dauvilliers, Yves; Kugener, Beatrice; Scholz, Sabine; Raverot, Veronique; Lin, Jian-Sheng; Guyon, Aurore; Gustin, Marie-Paule; Franco, Patricia

    2017-05-01

    The temporal association between sudden infant death syndrome (SIDS) and sleep suggests that the arousability from sleep provides a protective mechanism for survival. Recently, the hypocretin system, which promotes wakefulness, has been implicated in SIDS, since it has been reported that SIDS victims have fewer hypocretin neurons than infants who have died from other causes. To understand the role of hypocretin in SIDS, it is essential to better understand how this system matures. The present study compared cerebrospinal fluid (CSF) hypocretin in children aged 2-6 months, which is the age of peak incidence for SIDS, to both younger and older children. Hypocretin levels were measured in CSF samples from 101 children who underwent a clinically relevant lumbar puncture. Children were separated into five age groups: 0-2 months, 2-6 months, 1-5 years, 5-10 years, and 10-18 years. Hypocretin levels were not significantly different between 1-5 years, 5-10 years, and 10-18 years. Therefore, these three groups were pooled into a single one (1-18 years) for further analysis. Between the 0-2 month, 2-6 month, and 1-18 year groups, a significant difference in CSF hypocretin levels existed (p = 0.001). Simple comparisons showed that CSF hypocretin levels in the 2-6 month age group were significantly lower than hypocretin levels in both the 0-2 month and 1-18 year group (p hypocretin levels were lower at the age of peak incidence for SIDS. This could underlie an increased vulnerability to SIDS at this specific age. Copyright © 2017. Published by Elsevier B.V.

  19. Leaf and Canopy Level Detection of Fusarium Virguliforme (Sudden Death Syndrome in Soybean

    Directory of Open Access Journals (Sweden)

    Ittai Herrmann

    2018-03-01

    Full Text Available Pre-visual detection of crop disease is critical for food security. Field-based spectroscopic remote sensing offers a method to enable timely detection, but still requires appropriate instrumentation and testing. Soybean plants were spectrally measured throughout a growing season to assess the capacity of leaf and canopy level spectral measurements to detect non-visual foliage symptoms induced by Fusarium virguliforme (Fv, which causes sudden death syndrome. Canopy reflectance measurements were made using the Piccolo Doppio dual field-of-view, two-spectrometer (400 to 1630 nm system on a tractor. Leaf level measurements were obtained, in different plots, using a handheld spectrometer (400 to 2500 nm. Partial least squares discriminant analysis (PLSDA was applied to the spectroscopic data to discriminate between Fv-inoculated and control plants. Canopy and leaf spectral data allowed identification of Fv infection, prior to visual symptoms, with classification accuracy of 88% and 91% for calibration, 79% and 87% for cross-validation, and 82% and 92% for validation, respectively. Differences in wavelengths important to prediction by canopy vs. leaf data confirm that there are different bases for accurate predictions among methods. Partial least square regression (PLSR was used on a late-stage canopy level data to predict soybean seed yield, with calibration, cross-validation and validation R2 values 0.71, 0.59 and 0.62 (p < 0.01, respectively, and validation root mean square error of 0.31 t·ha−1. Spectral data from the tractor mounted system are thus sensitive to the expression of Fv root infection at canopy scale prior to canopy symptoms, suggesting such systems may be effective for precision agricultural research and management.

  20. Analysis of the surface membrane of iodinated leukemic cells by SDS-polyacrylamide gel electrophoresis

    International Nuclear Information System (INIS)

    Ishitani, Kunihiko; Ikeda, Akira; Tamura, Minoru; Takeuchi, Hidekazu; Ihara, Koji

    1980-01-01

    Surface proteins of human leukemic cells were labeled selectively by lactoperoxydase catalysed-iodination and examined by SDS-polyacrylamide gel electrophoresis. The electrophoretic pattern of the surface membranes of cells from a patients with chronic mylogeneous leukemia in blast crisis was of B cell type and showed Ia like antigen. Leukemic cells from a patient with hairly cell leukemia also expressed the pattern of B cell type when tested by this method the technique of iodinating cell surface with lactoperoxidase is useful in characterization of leukemia cells for diagnosis and monitoring of clinical course. (author)

  1. Can you die from obstructive sleep apnoea syndrome (OSAS)?

    LENUS (Irish Health Repository)

    O'Carroll, G

    2015-02-01

    Studies suggest an independent association between Obstructive Sleep Apnoea Syndrome (OSAS) and cardiovascular death. The purpose of our study is to examine doctors\\' awareness of this association and to determine whether this correlates with recording of OSAS on death certificates. We contacted the Central Statistics Office (CSO) and obtained relevant mention of OSAS on death certificates. We surveyed doctors on their view of OSAS-related deaths, CSO data from 2008-2011 reveal two deaths with OSAS documented as a direct cause and 52 deaths with OSAS as a contributory cause. Seventy-five doctors\\' surveyed (41%) believe OSAS can be a direct cause of death and 177 (96%) believe OSAS can be an indirect cause of death. Only 22 (12%) had putdown OSAS as a cause of death. OSAS is seldom recorded on death certificates. This is at odds with epidemiological forecasts and contrary to an opinion poll from a selection of doctors.

  2. Gender differences in outcomes in patients with acute coronary syndrome in the current era: A review.

    Science.gov (United States)

    Tan, Ying C; Sinclair, Hannah; Ghoorah, Kuldeepa; Teoh, Xuyan; Mehran, Roxana; Kunadian, Vijay

    2016-11-01

    Coronary heart disease is the most common cause of death worldwide. In the United Kingdom in 2010, over 80,000 deaths were attributed to coronary heart disease, and one in 10 female deaths were due to coronary heart disease. Acute coronary syndrome, a subset of coronary heart disease, was responsible for 175,000 inpatient admissions in the United Kingdom in 2012. While men have traditionally been considered to be at higher risk of acute coronary syndrome, various studies have demonstrated that women often suffer from poorer outcomes following an adverse cardiovascular event. This gap is gradually narrowing with the introduction of advanced interventional strategies and pharmacotherapy. However, a better understanding of these differences is of crucial importance for the improvement of the pharmacological and interventional management of acute coronary syndrome and for the development of possible new gender-specific diagnostic and therapeutic options. The goals of this review are to evaluate gender differences in outcomes in patients with acute coronary syndrome in the current era and identify potential mechanisms behind these differences in outcomes following percutaneous coronary intervention.

  3. Motor performance in children with Noonan syndrome.

    Science.gov (United States)

    Croonen, Ellen A; Essink, Marlou; van der Burgt, Ineke; Draaisma, Jos M; Noordam, Cees; Nijhuis-van der Sanden, Maria W G

    2017-09-01

    Although problems with motor performance in daily life are frequently mentioned in Noonan syndrome, the motor performance profile has never been systematically investigated. The aim of this study was to examine whether a specific profile in motor performance in children with Noonan syndrome was seen using valid norm-referenced tests. The study assessed motor performance in 19 children with Noonan syndrome (12 females, mean age 9 years 4 months, range 6 years 1 month to 11 years and 11 months, SDS 1 year and 11 months). More than 60% of the parents of the children reported pain, decreased muscle strength, reduced endurance, and/or clumsiness in daily functioning. The mean standard scores on the Visual Motor Integration (VMI) test and Movement Assessment Battery for Children 2, Dutch version (MABC-2-NL) items differed significantly from the reference scores. Grip strength, muscle force, and 6 min Walking Test (6 MWT) walking distance were significantly lower, and the presence of generalized hypermobility was significantly higher. All MABC-2-NL scores (except manual dexterity) correlated significantly with almost all muscle strength tests, VMI total score, and VMI visual perception score. The 6 MWT was only significantly correlated to grip strength. This is the first study that confirms that motor performance, strength, and endurance are significantly impaired in children with Noonan syndrome. Decreased functional motor performance seems to be related to decreased visual perception and reduced muscle strength. Research on causal relationships and the effectiveness of interventions is needed. Physical and/or occupational therapy guidance should be considered to enhance participation in daily life. © 2017 Wiley Periodicals, Inc.

  4. Sudden unexplained death in childhood. An audit of the quality of Autopsy reporting

    LENUS (Irish Health Repository)

    Treacy, A

    2013-03-01

    Cases of sudden unexplained death in childhood (SUDC) in Ireland in children aged >1year and <5 years were examined in order to assess the quality of autopsy reporting. All SUDC cases are notified to and documented by the National Sudden Infant Death Register (NSIDR) in Ireland along with all cases of sudden infant death syndrome (SIDS) referring to sudden infant deaths less than one year of age. The database of the NSIDR in Ireland was interrogated and cases of SIDS and SUDC were compared over a fifteen-year period (1995-2009). SIDS cases whose autopsies were conducted in the same hospital in the same year as the index SUDC case were used for comparison. The autopsy report for each case was examined and modified Rushton(MR) scores 1\\r\

  5. Socioeconomic factors affecting infant sleep-related deaths in St. Louis.

    Science.gov (United States)

    Hogan, Cathy

    2014-01-01

    Though the Back to Sleep Campaign that began in 1994 caused an overall decrease in sudden infant death syndrome (SIDS) rates, racial disparity has continued to increase in St. Louis. Though researchers have analyzed and described various sociodemographic characteristics of SIDS and infant deaths by unintentional suffocation in St. Louis, they have not simultaneously controlled for contributory risk factors to racial disparity such as race, poverty, maternal education, and number of children born to each mother (parity). To determine whether there is a relationship between maternal socioeconomic factors and sleep-related infant death. This quantitative case-control study used secondary data collected by the Missouri Department of Health and Senior Services between 2005 and 2009. The sample includes matched birth/death certificates and living birth certificates of infants who were born/died within time frame. Descriptive analysis, Chi-square, and logistic regression. The controls were birth records of infants who lived more than 1 year. Chi-square and logistic regression analyses confirmed that race and poverty have significant relationships with infant sleep-related deaths. The social significance of this study is that the results may lead to population-specific modifications of prevention messages that will reduce infant sleep-related deaths. © 2013 Wiley Periodicals, Inc.

  6. Postprandial hyperglycemia corrected by IGF-I (Increlex®) in Laron syndrome.

    Science.gov (United States)

    Latrech, Hanane; Simon, Albane; Beltrand, Jacques; Souberbielle, Jean-Claude; Belmejdoub, Ghizlane; Polak, Michel

    2012-01-01

    Laron syndrome is caused by a mutation in the growth hormone (GH) receptor and manifests as insulin-like growth factor-I (IGF-I) deficiency, severe short stature, and early hypoglycemia. We report a case with postprandial hyperglycemia, an abnormality not reported previously. Postprandial hyperglycemia was due to chronic IGF-I deficiency, and was reversed by IGF-I replacement therapy. A Moroccan girl referred for short stature at 7 years and 8 months of age had dwarfism [height, 78 cm (-9 SDs); weight, 10 kg (-4 SDs)], hypoglycemia, and truncal obesity. Her serum IGF-I level was very low, and her baseline serum GH level was elevated to 47 mIU/l. Molecular analysis showed a homozygous mutation in the GH receptor gene. Continuous glucose monitoring before treatment showed asymptomatic hypoglycemia with postprandial hyperglycemia (2.5 g/l, 13.75 mmol/l). Treatment with recombinant human IGF-I (mecasermin, Increlex®) was started. The blood glucose profile improved with 0.04 µg/kg/day and returned to normal with 0.12 µg/kg/day. Postprandial hyperglycemia is a metabolic consequence of chronic IGF-I deficiency. The beneficial effect of IGF-I replacement therapy may be ascribable to improved postprandial transfer of glucose. Copyright © 2012 S. Karger AG, Basel.

  7. Benefits of dark chocolate in treating metabolic syndrome.

    Science.gov (United States)

    Sander, Ruth

    2012-08-31

    Cardiovascular disease is the leading cause of death worldwide. The risk of developing it is significantly increased by the metabolic syndrome cluster of risk factors: waist measurement and other factors, such as blood pressure and cholesterol levels.

  8. Origins of the E. coli strain causing an outbreak of hemolytic-uremic syndrome in Germany

    DEFF Research Database (Denmark)

    Rasko, David A; Webster, Dale R; Sahl, Jason W

    2011-01-01

    A large outbreak of diarrhea and the hemolytic-uremic syndrome caused by an unusual serotype of Shiga-toxin-producing Escherichia coli (O104:H4) began in Germany in May 2011. As of July 22, a large number of cases of diarrhea caused by Shiga-toxin-producing E. coli have been reported--3167 without...... the hemolytic-uremic syndrome (16 deaths) and 908 with the hemolytic-uremic syndrome (34 deaths)--indicating that this strain is notably more virulent than most of the Shiga-toxin-producing E. coli strains. Preliminary genetic characterization of the outbreak strain suggested that, unlike most of these strains......, it should be classified within the enteroaggregative pathotype of E. coli....

  9. White-Nose Syndrome Fungus (Geomyces destructans) in Bats, Europe

    OpenAIRE

    Wibbelt, Gudrun; Kurth, Andreas; Hellmann, David; Weishaar, Manfred; Barlow, Alex; Veith, Michael; Prüger, Julia; Görföl, Tamás; Grosche, Lena; Bontadina, Fabio; Zöphel, Ulrich; Seidl, Hans-Peter; Cryan, Paul M.; Blehert, David S.

    2010-01-01

    White-nose syndrome is an emerging disease in North America that has caused substantial declines in hibernating bats. A recently identified fungus (Geomyces destructans) causes skin lesions that are characteristic of this disease. Typical signs of this infection were not observed in bats in North America before white-nose syndrome was detected. However, unconfirmed reports from Europe indicated white fungal growth on hibernating bats without associated deaths. To investigate these differences...

  10. Pancreatic Fat Is Associated With Metabolic Syndrome and Visceral Fat but Not Beta-Cell Function or Body Mass Index in Pediatric Obesity.

    Science.gov (United States)

    Staaf, Johan; Labmayr, Viktor; Paulmichl, Katharina; Manell, Hannes; Cen, Jing; Ciba, Iris; Dahlbom, Marie; Roomp, Kirsten; Anderwald, Christian-Heinz; Meissnitzer, Matthias; Schneider, Reinhard; Forslund, Anders; Widhalm, Kurt; Bergquist, Jonas; Ahlström, Håkan; Bergsten, Peter; Weghuber, Daniel; Kullberg, Joel

    2017-03-01

    Adolescents with obesity have increased risk of type 2 diabetes and metabolic syndrome (MetS). Pancreatic fat has been related to these conditions; however, little is known about associations in pediatric obesity. The present study was designed to explore these associations further. We examined 116 subjects, 90 with obesity. Anthropometry, MetS, blood samples, and oral glucose tolerance tests were assessed using standard techniques. Pancreatic fat fraction (PFF) and other fat depots were quantified using magnetic resonance imaging. The PFF was elevated in subjects with obesity. No association between PFF and body mass index-standard deviation score (BMI-SDS) was found in the obesity subcohort. Pancreatic fat fraction correlated to Insulin Secretion Sensitivity Index-2 and Homeostatic Model Assessment of Insulin Resistance in simple regression; however, when using adjusted regression and correcting for BMI-SDS and other fat compartments, PFF correlated only to visceral adipose tissue and fasting glucose. Highest levels of PFF were found in subjects with obesity and MetS. In adolescents with obesity, PFF is elevated and associated to MetS, fasting glucose, and visceral adipose tissue but not to beta-cell function, glucose tolerance, or BMI-SDS. This study demonstrates that conclusions regarding PFF and its associations depend on the body mass features of the cohort.

  11. Renaturation of the androgen receptor after denaturation in SDS

    International Nuclear Information System (INIS)

    Johnson, M.P.; Young, C.Y.F.; Rowley, D.R.; Tindall, D.J.

    1986-01-01

    Renaturation of the steroid binding activity of receptor proteins is a potentially useful tool for their purification and analysis. Cytosol was prepared from rat Dunning prostate tumor in buffer containing molybdate and then denatured by addition of SDS buffer and heating. Aliquots were precipitated in cold acetone and the resulting pellets were washed and solubilized with a small volume of solution containing a chaotropic agent such as 6M guanidine, 8M urea, or 5M sodium iodide. After a 20-minute incubation, samples were diluted 20-fold with buffer containing 4nM [ 3 H]dihydrotestosterone with or without excess unlabeled dihydrotestosterone. Diluted samples were incubated at 0 0 C for varying periods of time prior to assay of bound radioactivity using hydroxylapatite. A time-course of renaturation after exposure to guanidine showed a steady increase of specific binding activity during the first 7 hrs post-dilution that remained stable up to 22 hrs. Experiments with guanidine consistently demonstrated that 25-50% of binding activity was recoverable. Preliminary results using urea or sodium iodide were similar. Efforts to optimize recovery and to characterize the renatured androgen receptor are in progress

  12. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  13. Reduction of Portion Size and Eating Rate Is Associated with BMI-SDS Reduction in Overweight and Obese Children and Adolescents: Results on Eating and Nutrition Behaviour from the Observational KgAS Study.

    Science.gov (United States)

    Torbahn, Gabriel; Gellhaus, Ines; Koch, Benjamin; von Kries, Rüdiger; Obermeier, Viola; Holl, Reinhard W; Fink, Katharina; van Egmond-Fröhlich, Andreas

    2017-01-01

    Treatment of paediatric obesity focuses on changes of nutrition and eating behaviour and physical activity. The evaluation of the patient education programme by KgAS was utilised to analyse the association of changes of portion size, eating rate and dietary habits with BMI-SDS reductions. Patients (n = 297) were examined at the beginning and at the end of treatment and after 1-year follow-up at different out-patient centres. Their parents completed questionnaires including estimation of children's portion size, eating rate and frequency of food intake. Associations of 1- and 2-year changes in BMI-SDS and behaviour were calculated for patients with complete data in BMI-SDS, portion size, eating rate, frequency of green, yellow and red food intake (n = 131) by multiple linear regression models. Significant changes were found in the desired direction for BMI-SDS, portion size, eating rate and the intake of unfavourable red food items both after 1 and 2 years as well as for the consumption of favourable green food items after 1 year. Significant positive associations with BMI-SDS reduction after 1 and 2 years were detected for portion size (Cohen's f2 0.13 and 0.09) and eating rate (Cohen's f2 0.20 and 0.10), respectively. Reduced portion sizes and eating rates are associated with BMI-SDS reduction after 1 and 2 years. These findings suggest to focus on appropriate portion sizes and reduced eating rates in patient education programmes. © 2017 The Author(s) Published by S. Karger GmbH, Freiburg.

  14. Reduction of Portion Size and Eating Rate Is Associated with BMI-SDS Reduction in Overweight and Obese Children and Adolescents: Results on Eating and Nutrition Behaviour from the Observational KgAS Study

    Directory of Open Access Journals (Sweden)

    Gabriel Torbahn

    2017-10-01

    Full Text Available Objective: Treatment of paediatric obesity focuses on changes of nutrition and eating behaviour and physical activity. The evaluation of the patient education programme by KgAS was utilised to analyse the association of changes of portion size, eating rate and dietary habits with BMI-SDS reductions. Methods: Patients (n = 297 were examined at the beginning and at the end of treatment and after 1-year follow-up at different out-patient centres. Their parents completed questionnaires including estimation of children's portion size, eating rate and frequency of food intake. Associations of 1- and 2-year changes in BMI-SDS and behaviour were calculated for patients with complete data in BMI-SDS, portion size, eating rate, frequency of green, yellow and red food intake (n = 131 by multiple linear regression models. Results: Significant changes were found in the desired direction for BMI-SDS, portion size, eating rate and the intake of unfavourable red food items both after 1 and 2 years as well as for the consumption of favourable green food items after 1 year. Significant positive associations with BMI-SDS reduction after 1 and 2 years were detected for portion size (Cohen's f2 0.13 and 0.09 and eating rate (Cohen's f2 0.20 and 0.10, respectively. Conclusion: Reduced portion sizes and eating rates are associated with BMI-SDS reduction after 1 and 2 years. These findings suggest to focus on appropriate portion sizes and reduced eating rates in patient education programmes.

  15. Characterisation of Classical Sudden Infant Death Syndrome SIDS and Gray Zone SIDS in Japan Using Japanese Pathology and Autopsy Report 1982-1986 From the Japanese Society of Pathology

    Directory of Open Access Journals (Sweden)

    Toshiko Sawaguchia

    1996-07-01

    Full Text Available There is no standardised criterion on the handling of Classical Sudden Infant Death Syndrome (SIDS and Gray Zone SIDS. Particularly international discussion is needed on the handling of Gray Zone cases. Autopsy findings for Classical SIDS and Gray Zone SIDS in Japan has been analysed in preparing the basic data for this discussion in this report. The material analysed was found in the Japanese Pathology and Autopsy Report from the Japanese Society of Pathology (January 1982 to December 1986. A x2 test was required to find the difference between Classical SIDS and Gray Zone SIDS in each autopsy finding. In addition, factor analysis (the principal factor method with Varimax rotation was carried out to identify the structure of the autopsy findings not only for Gray Zone SIDS but also for Classical SIDS. Using the x2 test a lymph tissue enlargement was found to have a high statistical value in Classical SIDS. Congestion, thymus enlargement, pulmonary oedema, adrenal gland atrophy, lymph tissue enlargement and neonate were recorded with .high factor loadings in Classical SIDS by factor analysis. Pneumonia, premature baby, and cardiomegaly was recorded with high statistical value in Gray Zone SIDS by the x2 test. Asphyxia, congestion, atelectasis, pulmonary emphysema, adrenal gland atrophy, premature baby, thymus hypoplasia, cardial malformation and ectopic hemopoesis were recorded as having high factor loadings in Gray Zone SIDS using factor analysis. Thymus enlargement and adrenal gland atrophy were recorded in the third factor of Gray Zone SIDS having rather high negative factor loading using factor analysis. It is remarkable that asphyxia was extracted in the first factor of Gray Zone SIDS with the highest loading factor using factor analysis. This fact might suggest indirectly that a percentage of Gray Zone SIDS would be underdiagnosed because of a substitutional diagnosis of asphyxia as being an external cause of death in Japan, even in general

  16. Catatonia, neuroleptic malignant syndrome, and cotard syndrome in a 22-year-old woman: a case report.

    Science.gov (United States)

    Weiss, C; Santander, J; Torres, R

    2013-01-01

    The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as "I do not have a heart," "my heart is not beating," "I can not breathe," "I am breaking apart," "I have no head" (ideas of negation) and statements about the patient being responsible for the "death of the whole world" (ideas of enormity). Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed.

  17. Catatonia, Neuroleptic Malignant Syndrome, and Cotard Syndrome in a 22-Year-Old Woman: A Case Report

    Directory of Open Access Journals (Sweden)

    C. Weiss

    2013-01-01

    Full Text Available The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as “I do not have a heart,” “my heart is not beating,” “I can not breathe,” “I am breaking apart,” “I have no head” (ideas of negation and statements about the patient being responsible for the “death of the whole world” (ideas of enormity. Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed.

  18. Cardiovascular risk in Turner syndrome.

    Science.gov (United States)

    Donato, Beatriz; Ferreira, Maria João

    2018-06-01

    Turner syndrome is a relatively common genetic disorder of female development, characterized by partial or complete absence of an X chromosome, with a variable clinical presentation. Congenital or acquired cardiovascular disease is highly prevalent and a major cause of early death in this syndrome. The most feared complication is aortic dissection, which can occur at a very young age and requires careful assessment of its risk factors. A systematic literature search identified sixty relevant publications. These were reviewed with regard to the increased risk of cardiovascular disease in women with Turner syndrome, especially in pregnancy. The most common congenital cardiovascular defects are presented and illustrated with appropriate iconography. The current recommendations regarding the screening and monitoring of cardiovascular disease in these patients are discussed. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Structural imaging biomarkers of sudden unexpected death in epilepsy.

    Science.gov (United States)

    Wandschneider, Britta; Koepp, Matthias; Scott, Catherine; Micallef, Caroline; Balestrini, Simona; Sisodiya, Sanjay M; Thom, Maria; Harper, Ronald M; Sander, Josemir W; Vos, Sjoerd B; Duncan, John S; Lhatoo, Samden; Diehl, Beate

    2015-10-01

    Sudden unexpected death in epilepsy is a major cause of premature death in people with epilepsy. We aimed to assess whether structural changes potentially attributable to sudden death pathogenesis were present on magnetic resonance imaging in people who subsequently died of sudden unexpected death in epilepsy. In a retrospective, voxel-based analysis of T1 volume scans, we compared grey matter volumes in 12 cases of sudden unexpected death in epilepsy (two definite, 10 probable; eight males), acquired 2 years [median, interquartile range (IQR) 2.8] before death [median (IQR) age at scanning 33.5 (22) years], with 34 people at high risk [age 30.5 (12); 19 males], 19 at low risk [age 30 (7.5); 12 males] of sudden death, and 15 healthy controls [age 37 (16); seven males]. At-risk subjects were defined based on risk factors of sudden unexpected death in epilepsy identified in a recent combined risk factor analysis. We identified increased grey matter volume in the right anterior hippocampus/amygdala and parahippocampus in sudden death cases and people at high risk, when compared to those at low risk and controls. Compared to controls, posterior thalamic grey matter volume, an area mediating oxygen regulation, was reduced in cases of sudden unexpected death in epilepsy and subjects at high risk. The extent of reduction correlated with disease duration in all subjects with epilepsy. Increased amygdalo-hippocampal grey matter volume with right-sided changes is consistent with histo-pathological findings reported in sudden infant death syndrome. We speculate that the right-sided predominance reflects asymmetric central influences on autonomic outflow, contributing to cardiac arrhythmia. Pulvinar damage may impair hypoxia regulation. The imaging findings in sudden unexpected death in epilepsy and people at high risk may be useful as a biomarker for risk-stratification in future studies. The Author (2015). Published by Oxford University Press on behalf of the Guarantors of

  20. Secular Trends on Birth Parameters, Growth, and Pubertal Timing in Girls with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Joachim Woelfle

    2018-02-01

    Full Text Available BackgroundWhether children with chromosomal disorders of growth and puberty are affected by secular trends (STs as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses.ObjectivesThe aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS.Study designRetrospective analysis of KIGS data (Pfizer International Growth Database. We included all TS patients who entered KIGS between 1987 and 2012 and were born from 1975 to 2004, who were prepubertal and growth treatment naïve at first entry (total number: 7,219. Pretreatment height and ages at the start of treatment were compared across 5-year birth year groups, with subgroup analyses stratified by induced or spontaneous puberty start.ResultsWe observed significant STs across the birth year groups for birth weight [+0.18 SD score (SDS, p < 0.001], pretreatment height at mean age 8 years (+0.73 SDS, p < 0.001, height at the start of growth hormone (GH therapy (+0.38 SDS, p < 0.001 and start of puberty (+0.42 SDS, p < 0.001. Spontaneous puberty onset increased from 15 to 30% (p < 0.001. Mean age at the start of GH treatment decreased from 10.8 to 7.4 years (−3.4 years; p < 0.001, and substantial declines were seen in ages at onset of spontaneous and induced puberty (−2.0 years; p < 0.001 and menarche (−2.1 years; p < 0.001.ConclusionEnvironmental changes leading to increased height and earlier and also more common, spontaneous puberty are applicable in TS as in normal girls. In addition, greater awareness for TS may underlie trends to earlier start of GH therapy and induction of puberty at a more physiological age.

  1. Case report of sudden death in a child with Williams syndrome ...

    African Journals Online (AJOL)

    Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a deletion of a group of genes on chromosome 7q11.23. Administration of ...

  2. A Case of Bardet-Biedl Syndrome

    Directory of Open Access Journals (Sweden)

    katayon Etemadi

    2007-09-01

    Full Text Available Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnormalities and hypogonadism. Renal failure is the major cause of death in homozygote patients, with chronic glomerolopathy that cause chronic renal disease. Secondary features are: speech disorder delay, developmental delay, polyuria, diabetes mellitus and hypertension. The diagnosis of Bardet- Biedl syndrome is established by clinical findings. Twelve genes are known to be associated with Bardet Biedl syndromes: BBS1, BBS2… BBS12. Case presentation: In this article we report a four and half year old boy that have Bardet Biedl syndrome as a result of a consanguine marriage (third degree. Conclusion: A monogenic syndrome such as Bardet Biedl has a lot of symptoms. These symptoms are out put of a mutation in locus of a recessive allel. Therefore people like to marry consanguinly have to do genetic counseling before marriage. Because analysis of family history will reduced the risk of such syndromes.

  3. Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients

    International Nuclear Information System (INIS)

    Morini, J.; Babini, G.; Mariotti, L.; Baiocco, G.; Ottolenghi, A.; Nacci, L.; Minelli, A.; Danesino, C.; Maccario, C.; Roessler, U.; Savio, M.; Gomolka, M.; Kulka, U.

    2015-01-01

    Shwachman-Diamond syndrome is an autosomal-recessive disorder characterised by bone marrow failure and a cumulative risk of progression to acute myeloid leukaemia. The Shwachman-Bodian-Diamond syndrome (SBDS) gene, the only gene known to be causative of the pathology, is involved in ribosomal biogenesis, stress responses and DNA repair, and the lack of SBDS sensitises cells to many stressors and leads to mitotic spindle destabilisation. The effect of ionising radiation on SBDS-deficient cells was investigated using immortalised lymphocytes from SDS patients in comparison with positive and negative controls in order to test whether, in response to ionising radiation exposure, any impairment in the DNA repair machinery could be observed. After irradiating cells with different doses of X-rays or gamma-rays, DNA repair kinetics and the residual damages using the alkaline COMET assay and the γ-H2AX assay were assessed, respectively. In this work, preliminary data about the comparison between ionising radiation effects in different patients-derived cells and healthy control cells are presented. (authors)

  4. Study of total seed proteins pattern of sesame (sesamum indicum l.) landraces via sodium dodecyl sulfate polyacrylamide gel electrophoresis (sds-page)

    International Nuclear Information System (INIS)

    Akbar, F.; Shinwari, Z.K.

    2012-01-01

    The sesame (Sesamum indicum L.) germplasm, comprising of 105 accessions was characterized for total seed storage proteins using sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE). The germplasm was collected from diverse agro-ecological regions of Pakistan. To our information, no studies have yet been carried out in Pakistan on the genetic evaluation of sesame genotypes based on total seed protein. Total seed proteins were electrophoretically separated on 12% polyacrylamide gels by standard protocols. A total of 20 polypeptide bands were observed, of which 14 (70%) were polymorphic and 6 (30%) were monomorphic, with molecular weight ranging from 13.5 to 100 kDa. Six bands i.e., 7, 11, 12, 15, 16 and 18 were common in all genotypes. Similarity coefficients varied fro m 0.50 to 1.00. The dendrogram based on dissimilarity matrix using unweighted pair group method with arithmetic averages (UPGMA) separated all sesame accessions into three main groups i.e., A, B, C, comprising 89, 14 and 2 genotypes, respectively. Overall a low to medium level of genetic variability was observed for SDS-PAGE (single dimension). As SDS-PAGE alone did not reveal high level of genetic variability, hence 2-D gel electrophoresis along with other advanced type DNA markers and more number of sesame accessions from all over the country are recommended for the future genetic evaluation. Our investigation will significantly support the classification, development, genetic evaluation and conservation of sesame germplasm in Pakistan. (author)

  5. Study of total seed proteins pattern of sesame (sesamum indicum l.) landraces via sodium dodecyl sulfate polyacrylamide gel electrophoresis (sds-page)

    Energy Technology Data Exchange (ETDEWEB)

    Akbar, F; Shinwari, Z K [Quaid-e-Azam University, Islamabad (Pakistan). Dept. of Biotechnology; Yousif, N; Masood, M S [Institute of Agri-Biotechnology and Genetic Resources, Islamabad (Pakistan)

    2012-11-15

    The sesame (Sesamum indicum L.) germplasm, comprising of 105 accessions was characterized for total seed storage proteins using sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE). The germplasm was collected from diverse agro-ecological regions of Pakistan. To our information, no studies have yet been carried out in Pakistan on the genetic evaluation of sesame genotypes based on total seed protein. Total seed proteins were electrophoretically separated on 12% polyacrylamide gels by standard protocols. A total of 20 polypeptide bands were observed, of which 14 (70%) were polymorphic and 6 (30%) were monomorphic, with molecular weight ranging from 13.5 to 100 kDa. Six bands i.e., 7, 11, 12, 15, 16 and 18 were common in all genotypes. Similarity coefficients varied fro m 0.50 to 1.00. The dendrogram based on dissimilarity matrix using unweighted pair group method with arithmetic averages (UPGMA) separated all sesame accessions into three main groups i.e., A, B, C, comprising 89, 14 and 2 genotypes, respectively. Overall a low to medium level of genetic variability was observed for SDS-PAGE (single dimension). As SDS-PAGE alone did not reveal high level of genetic variability, hence 2-D gel electrophoresis along with other advanced type DNA markers and more number of sesame accessions from all over the country are recommended for the future genetic evaluation. Our investigation will significantly support the classification, development, genetic evaluation and conservation of sesame germplasm in Pakistan. (author)

  6. Congenital nephrotic syndrome.

    Science.gov (United States)

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.

  7. Congenital nephrotic syndrome. Gallium-67 imaging

    International Nuclear Information System (INIS)

    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-01-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

  8. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

    Morris, Joan K; Garne, Ester; Wellesley, Diana

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

  9. Sudden death in a case of catatonia due to pulmonary embolism

    Directory of Open Access Journals (Sweden)

    Archana Javadekar

    2014-01-01

    Full Text Available Catatonic syndrome carries relatively high mortality. One of the causes of death is pulmonary embolism. Prolonged immobility, dehydration, use of low-potency antipsychotic drugs, and electroconvulsive therapy (ECT increase the risk of venous thromboembolism. Evaluating the risk of catatonic patients is of paramount importance. Prevention of venous thromboembolism by reducing the risk factors and relieving catatonic symptoms early is essential.

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

    Directory of Open Access Journals (Sweden)

    Matturri Luigi

    2010-07-01

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

  11. Economical and eco-friendly recycling of used dry batteries for synthesis of graphene oxide by sheer exfoliation in presence of SDS

    Science.gov (United States)

    Kochrekar, Sachin; Agharkar, Mahesh; Salgaonkar, Manjunath; Gharge, Mrunal; Hidouri, Slah; Azeez, Musibau A.

    2015-06-01

    Graphene is a two-dimensional form of graphite that has attracted great curiosity for its novel physical properties. A key challenge that has emerged is how to create large amounts of graphene at low cost. The purpose of this Paper is to explore a new method to exfoliate graphite extracted from used dry battery in a small scale blender; in presence of SDS surfactant to synthesize graphene oxide, which can be then reduced to graphene. Quantity of SDS required is extremely less (1/10th) of graphite, and it replaces several steps and chemicals such as KMnO4, H2O2, H2SO4 and NaNO3. In this paper, we present the new process and preliminary characterization of synthesized graphene oxide by Raman and UV-Vis absorbance spectroscopy and ATR-IR spectroscopy.

  12. Inflammation: a trigger for acute coronary syndrome

    International Nuclear Information System (INIS)

    SAGER, Hendrik B.; NAHRENDORF, Matthias

    2016-01-01

    Atherosclerosis is a chronic inflammatory disease of the vessel wall and a major cause of death worldwide. One of atherosclerosis’ most dreadful complications are acute coronary syndromes that comprise ST-segment elevation myocardial infarction, non-ST-segment elevation myocardial infarction, and unstable angina. We now understand that inflammation substantially contributes to the initiation, progression, and destabilization of atherosclerosis. In this review, we will focus on the role of inflammatory leukocytes, which are the cellular protagonists of vascular inflammation, in triggering disease progression and, ultimately, the destabilization that causes acute coronary syndromes.

  13. Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children

    DEFF Research Database (Denmark)

    Banner, Jytte; Kølvraa, S; Gregersen, N

    1997-01-01

    Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl Co......A dehydrogenase deficiency, which is inherited in an autosomal recessive mode. No over-representation of either homozygous or heterozygous cases was found....

  14. The changing nature of death on the trauma service.

    Science.gov (United States)

    Kahl, Jessica E; Calvo, Richard Y; Sise, Michael J; Sise, C Beth; Thorndike, Jonathan F; Shackford, Steven R

    2013-08-01

    Recent innovations in care have improved survival following injury. Coincidentally, the population of elderly injured patients with preexisting comorbidities has increased. We hypothesized that this increase in elderly injured patients may have combined with recent care innovations to alter the causes of death after trauma. We reviewed demographics, injury characteristics, and cause of death of in-hospital deaths of patients admitted to our Level I trauma service from 2000 through 2011. Cause of death was classified as acute hemorrhagic shock; severe traumatic brain injury or high spinal cord injury; complications of preexisting medical condition only (PM); survivable trauma combined with complications of preexisting medical condition (TCoM); multiple-organ failure, sepsis, or adult respiratory distress syndrome (MOF/S/ARDS), or trauma not otherwise categorized (e.g., asphyxiation). Major trauma care advances implemented on our service during the period were identified, and trends in the causes of death were analyzed. Of the 27,276 admissions, 819 (3%) eligible nonsurvivors were identified for the cause-of-death analyses. Causes of death were severe traumatic brain injury or high spinal cord injury at 44%, acute hemorrhagic shock at 28%, PM at 11%, TCoM at 10%, MOF/S/ARDS at 2%, and trauma not otherwise categorized at 5%. Mean age at death increased across the study interval (range, 47-57 years), while mean Injury Severity Score (ISS) decreased (range, 28-35). There was a significant increase in deaths because of TCoM (3.3-20.9%) and PM (6.7-16.4%), while deaths caused by MOF/S/ARDS decreased from 5% to 0% by 2007. Compared with year 2000, the annual adjusted mortality rate decreased consistently starting in 2009, after the 2002 to 2007 adoption of four major trauma practice guidelines. Mortality caused by preexisting medical conditions has increased, while markedly fewer deaths resulted from the complications of injury. Future improvements in outcomes will require

  15. Comparison of new ELISA method with established SDS-PAGE method for determination of muscle myosin heavy chain isoforms

    Czech Academy of Sciences Publication Activity Database

    Říčný, Jan; Soukup, Tomáš

    2011-01-01

    Roč. 60, č. 6 (2011), s. 899-904 ISSN 0862-8408 R&D Projects: GA ČR(CZ) GA304/08/0256 Grant - others:EC(XE) LSH-CT-2004-511978 Institutional research plan: CEZ:AV0Z50110509 Keywords : muscle fiber types * myosin heavy chains * SDS - PAGE * immunoreactions * thyroid hormones * ELISA Subject RIV: EA - Cell Biology Impact factor: 1.555, year: 2011

  16. Acute irradiation syndrome : radiation disease

    International Nuclear Information System (INIS)

    Mestries, J.C.; Multon, E.

    1995-01-01

    It is classically assumed that the symptomatology of the acute radiation syndrome is mainly due to stem and progenitor cells death in compartimentalized tissues, particularly in bone marrow and intestine. Our observations on baboons, irradiated with a mixed neutron/gamma or a gamma radiation, showed that the whole organism response plays a major role. There is an inflammatory syndrome, not only during the prodromal phase, but also a second one, that precedes and accompanies the manifest-illness phase. This inflammatory syndrome was associated with coagulation disorders which are largely responsible for bleeding. This syndrome makes the therapeutic approach more complicated since some cytokines, which could be able to improve the hematopoietic cells recovery (e.g. IL-6), exhibit pro-inflammatory activities as well. Regarding radiobiological triage, no biological marker has a prognosis value during the first days following a radiation exposure, for those individuals exposed to around a LD50. On the contrary, some inflammation markers allow to anticipate a fatal issue, without any treatment, as early as the beginning of the manifest-illness phase. (authors). 10 refs., 11 figs

  17. Protein identification and quantification from riverbank grape, Vitis riparia: Comparing SDS-PAGE and FASP-GPF techniques for shotgun proteomic analysis.

    Science.gov (United States)

    George, Iniga S; Fennell, Anne Y; Haynes, Paul A

    2015-09-01

    Protein sample preparation optimisation is critical for establishing reproducible high throughput proteomic analysis. In this study, two different fractionation sample preparation techniques (in-gel digestion and in-solution digestion) for shotgun proteomics were used to quantitatively compare proteins identified in Vitis riparia leaf samples. The total number of proteins and peptides identified were compared between filter aided sample preparation (FASP) coupled with gas phase fractionation (GPF) and SDS-PAGE methods. There was a 24% increase in the total number of reproducibly identified proteins when FASP-GPF was used. FASP-GPF is more reproducible, less expensive and a better method than SDS-PAGE for shotgun proteomics of grapevine samples as it significantly increases protein identification across biological replicates. Total peptide and protein information from the two fractionation techniques is available in PRIDE with the identifier PXD001399 (http://proteomecentral.proteomexchange.org/dataset/PXD001399). © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

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

    Science.gov (United States)

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

    2013-10-01

    Wolff-Parkinson-White (WPW) syndrome carries a risk for symptomatic arrhythmias and sudden death. The aim of this study was to examine the natural history of patients with Wolff-Parkinson-White syndrome diagnosed in childhood followed longitudinally at a single institution. The study population consisted of 446 patients. The median age of diagnosis was 7 years, and 61% were male. Associated heart disease was present in 40 patients (9%). Modes of presentation included supraventricular tachycardia (38%), palpitations (22%), chest pain (5%), syncope (4%), atrial fibrillation (0.4%), sudden death (0.2%), and incidental findings (26%); data were unavailable in 4%. During the study period, a total of 243 patients (54%) had supraventricular tachycardia, and 7 patients (1.6%) had atrial fibrillation. Of patients who presented at ≤3 months of age, 35% had resolution of manifest preexcitation compared with 5.8% who presented at >3 months of age (p 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.

  19. Ursodeoxycholic acid treatment of vanishing bile duct syndromes

    NARCIS (Netherlands)

    Pusl, Thomas; Beuers, Ulrich

    2006-01-01

    Vanishing bile duct syndromes (VBDS) are characterized by progressive loss of small intrahepatic ducts caused by a variety of different diseases leading to chronic cholestasis, cirrhosis, and premature death from liver failure. The majority of adult patients with VBDS suffer from primary biliary

  20. Long-term results of aortic valve-sparing operations in patients with Marfan syndrome.

    Science.gov (United States)

    David, Tirone E; Armstrong, Sue; Maganti, Manjula; Colman, Jack; Bradley, Timothy J

    2009-10-01

    The appropriateness of aortic valve-sparing operations in patients with Marfan syndrome has been questioned. This study examines the long-term results of these operations in patients with Marfan syndrome. From 1988 to 2006, 103 consecutive patients with Marfan syndrome (mean age, 37 +/- 12 years) and aortic root aneurysm had aortic valve-sparing operations. Emergency surgery was performed in 11 patients: 8 for acute type A aortic dissection and 3 for unexplained persistent chest pain. Fourteen patients also had mitral valve surgery. The technique of aortic valve reimplantation was used in 77 patients, and aortic root remodeling was used in 26 patients. Patients were followed prospectively and underwent annual echocardiographic studies. The mean follow-up was 7.3 +/- 4.2 years and 100% complete. There was 1 operative death and 5 late deaths. Four of the 6 deaths were due to complications of aortic dissections. The patients' survival at 15 years was 87.2% compared with 95.6% for the general population of Ontario matched for age and sex. Seven patients had important aortic insufficiency: 4 mild to moderate, 2 moderate, and 1 moderate to severe. Freedom from greater than mild aortic insufficiency at 15 years was 79.2%. Three patients, all after aortic root remodeling, had aortic valve replacement, 2 for aortic insufficiency and 1 for endocarditis. At the most recent follow-up, 97 patients were alive: 86 were in functional class I, and 11 were in functional class II. Aortic valve-sparing operations provided excellent clinical outcomes in this series of patients with Marfan syndrome. Postoperatively, complications of aortic dissections were the leading cause of death.

  1. Guillain-Barré syndrome: rehabilitation outcome and recent developments.

    OpenAIRE

    Melillo, E. M.; Sethi, J. M.; Mohsenin, V.

    1998-01-01

    Guillain-Barré syndrome is the most common polyneuropathy causing major disability and respiratory failure. Respiratory complications are the main cause of death. Improved respiratory care and new treatment strategies such as plasmaphoresis and immunoglobulin have been shown to improve outcome. We studied the course and outcome of 37 patients with Guillain-Barré syndrome who were admitted to a rehabilitation and respiratory care facility over a 10-year period. There were 21 males and 16 femal...

  2. Weren't Asked, Didn't Tell: Prevalence of Communication of Suicidal Ideation in Suicide Decedents During the Last Year of Life.

    Science.gov (United States)

    Bommersbach, Tanner J; Chock, Megan M; Geske, Jennifer L; Bostwick, J Michael

    2018-06-01

    To explore what percentage of suicide decedents (SDs) vs controls were assessed for suicidality at medical appointments in the year before death. Using the Rochester Epidemiology Project, 66 SDs dying in Olmsted County, Minnesota, between January 1, 2000, and December 31, 2009, were identified and matched with 141 age- and sex-matched controls. Blinded chart review determined how often providers screened and subjects endorsed suicidal ideation (SI). Positive indicators included chart notes recording SI and/or Patient Health Questionnaire-9 scored more than 0 on question 9. We found that only 29 of 66 (43.9%) SDs and 14 of 141 (9.9%) controls had been screened at any point by any means (P < .001). Only 25.8% (17 of 66) of SDs expressed SI, whereas 58.6% of screened SDs (17 of 29) did so, though none at final appointments before death. No control ever expressed SI. While the majority of both cases and controls went unscreened, providers were more likely to screen SDs (P < .001; odds ratio [OR], 9.0; 95% CI, 3.6-22.0), even with controlling for mental health diagnoses (P = .02; OR, 3.6; 95% CI, 1.2-10.6). With providers screening less than half of SDs at any point in the year before death, and less than 60% of SDs ever endorsing SI, including none at final appointments, the findings of this naturalistic study bring into question both current screening practices and screening effectiveness. Nonetheless, when SDs were screened, they were significantly more likely to endorse SI than were controls, not 1 of whom ever expressed SI. Taken together, these data suggest that patients expressing SI at any point are at elevated risk for eventual suicide. Copyright © 2018 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  3. Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

    International Nuclear Information System (INIS)

    Kim, Gwang Jun; Lee, Eun Sil

    2009-01-01

    We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28 +3 weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management

  4. Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients

    DEFF Research Database (Denmark)

    Jons, Christian; O-Uchi, Jin; Moss, Arthur J

    2011-01-01

    Inherited long QT syndrome (LQTS) is caused by mutations in ion channels that delay cardiac repolarization, increasing the risk of sudden death from ventricular arrhythmias. Currently, the risk of sudden death in individuals with LQTS is estimated from clinical parameters such as age, gender, and...

  5. WOLFF–PARKINSON–WHITE SYNDROME IN CHILDREN: CLINICAL COURSE, DIAGNOSTICS, TREATMENT

    Directory of Open Access Journals (Sweden)

    T.K. Kruchina

    2011-01-01

    Full Text Available Wolff–Parkinson–White (WPW syndrome — is the most common cause of tachycardia in children. The clinical significance of WPW udden cardiac death. Data are presented on the principles of diagnosis of various types of WPW syndrome and characteristics of various types of tachycardia occurring in this disease. At present there is a radical method of treatment of the WPW syndrome — radiofrequency ablation of atrioventricular additional connections. Antiarhythmic therapy remains relevant in arresting attacks of tachycardia, as well as in the treatment of young children who have the age limits for radiofrequency ablation. The principles of choice of treatment and relief of the attack algorithm tachycardia syndrome WPW are described. Key words: Wolff–Parkinson–White syndrome, paroxysmal atrioventricular reciprocal tachycardia, children. (Pediatric Pharmacology. — 2011; 8 (5: 49–53.

  6. Impact of Mediterranean diet on metabolic syndrome, cancer and longevity.

    Science.gov (United States)

    Di Daniele, Nicola; Noce, Annalisa; Vidiri, Maria Francesca; Moriconi, Eleonora; Marrone, Giulia; Annicchiarico-Petruzzelli, Margherita; D'Urso, Gabriele; Tesauro, Manfredi; Rovella, Valentina; De Lorenzo, Antonino

    2017-01-31

    Obesity symbolizes a major public health problem. Overweight and obesity are associated to the occurrence of the metabolic syndrome and to adipose tissue dysfunction. The adipose tissue is metabolically active and an endocrine organ, whose dysregulation causes a low-grade inflammatory state and ectopic fat depositions. The Mediterranean Diet represents a possible therapy for metabolic syndrome, preventing adiposopathy or "sick fat" formation.The Mediterranean Diet exerts protective effects in elderly subjects with and without baseline of chronic diseases. Recent studies have demonstrated a relationship between cancer and obesity. In the US, diet represents amount 30-35% of death causes related to cancer. Currently, the cancer is the second cause of death after cardiovascular diseases worldwide. Furthermore, populations living in the Mediterranean area have a decreased incidence of cancer compared with populations living in Northern Europe or the US, likely due to healthier dietary habits. The bioactive food components have a potential preventive action on cancer. The aims of this review are to evaluate the impact of Mediterranean Diet on onset, progression and regression of metabolic syndrome, cancer and on longevity.

  7. Flavonoid glycosides from Persea caerulea. Unraveling their interactions with SDS-micelles through matrix-assisted DOSY, PGSE, mass spectrometry, and NOESY.

    Science.gov (United States)

    Álvarez, Juan M; Raya-Barón, Álvaro; Nieto, Pedro M; Cuca, Luis E; Carrasco-Pancorbo, Alegría; Fernández-Gutiérrez, Alberto; Fernández, Ignacio

    2016-04-13

    Two flavonoid glycosides derived from rhamnopyranoside (1) and arabinofuranoside (2) have been isolated from leaves of Persea caerulea for the first time. The structures of 1 and 2 have been established by 1 H NMR, 13 C NMR, and IR spectroscopy, together with LC-ESI-TOF and LC-ESI-IT MS spectrometry. From the MS and MS/MS data, the molecular weights of the intact molecules as well as those of quercetin and kaempferol together with their sugar moieties were deduced. The NMR data provided information on the identity of the compounds, as well as the α and β configurations and the position of the glycosides on quercetin and kaempferol. We have also explored the application of sodium dodecyl sulfate (SDS) normal micelles in binary aqueous solution, at a range of concentrations, to the diffusion resolution of these two glycosides, by the application of matrix-assisted diffusion ordered spectroscopy (DOSY) and pulse field gradient spin echo (PGSE) methodologies, showing that SDS micelles offer a significant resolution which can, in part, be rationalized in terms of differing degrees of hydrophobicity, amphiphilicity, and steric effects. In addition, intra-residue and inter-residue proton-proton distances using nuclear Overhauser effect build-up curves were used to elucidate the conformational preferences of these two flavonoid glycosides when interacting with the micelles. By the combination of both diffusion and nuclear Overhauser spectroscopy techniques, the average location site of kaempferol and quercetin glycosides has been postulated, with the former exhibiting a clear insertion into the interior of the SDS-micelle, whereas the latter is placed closer to the surface. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

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

    Science.gov (United States)

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

    2014-01-01

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

  9. Early and long-term outcomes of coronary artery bypass grafting in patients with acute coronary syndrome versus stable angina pectoris.

    Science.gov (United States)

    Fukui, Toshihiro; Tabata, Minoru; Morita, Satoshi; Takanashi, Shuichiro

    2013-06-01

    The aim of the present study was to determine the early and long-term outcomes of coronary artery bypass grafting in patients with acute coronary syndrome and stable angina pectoris. From September 2004 to September 2011, 382 patients with acute coronary syndrome (unstable angina pectoris and non-ST-segment elevation myocardial infarction) and 851 patients with stable angina pectoris underwent first-time isolated coronary artery bypass grafting at our institute. The early and long-term outcomes were compared between the 2 groups. Patients with acute coronary syndrome were older, were more likely to be women, had a smaller body surface area, and were more likely to have left main coronary artery disease. In both groups, bilateral internal thoracic artery grafts were used in approximately 89% of the patients, and off-pump techniques in approximately 97% of the patients. The acute coronary syndrome group had a greater operative death rate (2.6% vs 0.1%) and a greater incidence of low output syndrome (3.1% vs 1.2%) and hemodialysis requirement (2.9% vs 1.1%). Multivariate regression analysis demonstrated that age, acute coronary syndrome, lower ejection fraction, and higher creatinine level before surgery were independent predictors of operative death. However, among the hospital survivors, no differences were seen in freedom from all death (85.4% ± 2.5% vs 87.7% ± 2.0%), cardiac death (97.4% ± 0.9% vs 96.5% ± 0.9%), or major adverse cardiac and cerebrovascular events (78.0% ± 2.9% vs 78.1% ± 2.3%) at 7 years between the patients with acute coronary syndrome and stable angina pectoris. Although acute coronary syndrome is an independent predictor of early mortality in patients undergoing coronary artery bypass grafting, the long-term outcomes after surgery were similar between patients with acute coronary syndrome and stable angina pectoris who survived the early postoperative period. Copyright © 2013 The American Association for Thoracic Surgery. Published by

  10. Safety and efficacy of angioplasty with intracoronary stenting in patients with unstable coronary syndromes. Comparison with stable coronary syndromes

    Directory of Open Access Journals (Sweden)

    Luís C. L. Correia

    2000-06-01

    Full Text Available OBJECTIVE: To assess safety and efficacy of coronary angioplasty with stent implantation in unstable coronary syndromes. METHODS: Retrospective analysis of in-hospital and late evolution of 74 patients with unstable coronary syndromes (unstable angina or infarction without elevation of the ST segment undergoing coronary angioplasty with stent placement. These 74 patients were compared with 31 patients with stable coronary syndromes (stable angina or stable silent ischemia undergoing the same procedure. RESULTS: No death and no need for revascularization of the culprit artery occurred in the in-hospital phase. The incidences of acute non-Q-wave myocardial infarction were 1.4% and 3.2% (p=0.6 in the unstable and stable coronary syndrome groups, respectively. In the late follow-up (11.2±7.5 months, the incidences of these events combined were 5.7% in the unstable coronary syndrome group and 6.9% (p=0.8 in the stable coronary syndrome group. In the multivariate analysis, the only variable with a tendency to significance as an event predictor was diabetes mellitus (p=0.07; OR=5.2; 95% CI=0.9-29.9. CONCLUSION: The in-hospital and late evolutions of patients with unstable coronary syndrome undergoing angioplasty with intracoronary stent implantation are similar to those of the stable coronary syndrome group, suggesting that this procedure is safe and efficacious when performed in unstable coronary syndrome patients.

  11. Long-term mortality and causes of death among hospitalized Swedish drug users.

    Science.gov (United States)

    Fugelstad, Anna; Annell, Anders; Ågren, Gunnar

    2014-06-01

    To study long-term mortality and causes of death in a cohort of drug users in relation to main type of drug use and HIV-status. A total of 1640 hospitalized drug users in Stockholm was followed up from 1985 to the end of 2007. The mortality was compared with the general Swedish population and hazard ratios (HR) for the main risk indicators were calculated. The causes of death were studied, using information from death certificates. 630 persons died during the observation period. The Standard Mortality Ratio (SMR) was 16.1 (males 13.8, females 18.5). The crude mortality rate was 2.0 % (males 2.2% and females 1.5%). The mortality rate was higher in heroin users than among amphetamine users, HR 1.96, controlled for age and other risk factors. The mortality rate among individuals infected with the human immunodeficiency virus (HIV) was high (4.9 %), HR 2.64, compared with HIV-negative individuals. Most of the deaths were from other causes than acquired immune deficiency syndrome. One-third of deaths (227) were caused by heroin intoxication. The number of deaths from HIV-related causes decreased after 1996, when highly active anti-retroviral therapy was introduced. In all, there were 92 HIV-related deaths. Deaths from natural causes increased during the observation period. The SMR was highest for cardiovascular and gastrointestinal diseases. The results indicate a correlation between amphetamine use and death from cerebral haemorrhage. A high proportion of natural deaths were alcohol-related. The death rate among illicit drug users was persistently high. Alcohol consumption was a contributing factor to premature death. © 2014 the Nordic Societies of Public Health.

  12. Angiotensin converting enzyme DD genotype is associated with acute coronary syndrome severity and sudden cardiac death in Taiwan: a case-control emergency room study.

    Science.gov (United States)

    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

    2012-02-15

    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.

  13. Sudden death in a young competitive athlete with Wolff-Parkinson-White syndrome

    NARCIS (Netherlands)

    Wiedermann, C. J.; Becker, A. E.; Hopferwieser, T.; Mühlberger, V.; Knapp, E.

    1987-01-01

    The case history is documented of a young competitive athlete known to have the electrocardiographic pattern of the Wolff-Parkinson-White syndrome, but considered asymptomatic. On that basis competitive sport was not proscribed. In retrospect, he had experienced occasional tachycardias which were of

  14. Treatment of anti-Ma2/Ta paraneoplastic syndrome.

    Science.gov (United States)

    Kraker, Jessica

    2009-01-01

    The paraneoplastic syndrome caused by Ma2/Ta antibodies alone (not in conjunction with Ma1 or Ma3 antibodies) varies in presentation from classic limbic encephalitis. The Ma2 syndrome may present with symptoms referable to the brainstem, diencephalon, and limbic system. These clinical symptoms are accompanied by MRI changes and abnormal electroencephalographic findings. It is important to recognize when the encephalitic syndrome is secondary to Ma2 paraneoplastic antibodies, as the patients improve or stabilize most often when the underlying carcinoma is treated. Treatment of the paraneoplastic syndrome begins with recognition of the symptoms, such as memory impairment, seizures, sleep disturbances, bradykinesia or hypokinesia, and eye movement abnormalities. If a primary tumor is discovered during the workup, it should be removed and treated with the most up-to-date oncologic treatment available. In addition to oncologic treatment, the syndrome may be treated with an immunosuppressant regimen to optimize the neurologic outcome. Leaving the patient untreated will result in decline and eventual death from the cancer itself or from complications of the paraneoplastic syndrome.

  15. Life and death of Vladimir Mikhailovich Bekhterev

    Directory of Open Access Journals (Sweden)

    Péricles Maranhão Filho

    2015-01-01

    Full Text Available Vladimir Mikhailovich Bekhterev was a Russian innovative neuroscientist, extraordinary in the study, diagnosis, and research in the fields of neurology, psychology, morphology, physiology, and psychiatry. Considering the ample and multifaceted scientific feats, only some are touched in a very brief manner. However, it is necessary to highlight his contributions to neurology, with the description of structures, signs and syndromes, to physiology, including reflexology, which later underpinned behaviorism, to psychology, including objective psychology and suggestion. His accomplishments and legacy remained until the present days. Some comments about the scenery that involved his death are also presented.

  16. Anticholinergic Toxic Syndrome Caused by Atropa Belladonna Fruit (Deadly Nightshade): A Case Report

    Science.gov (United States)

    Demirhan, Abdullah; Tekelioğlu, Ümit Yaşar; Yıldız, İsa; Korkmaz, Tanzer; Bilgi, Murat; Akkaya, Akcan; Koçoğlu, Hasan

    2013-01-01

    Atropa Belladonna poisoning may lead to anticholinergic syndrome. Ingestion of high amounts of the plant may cause lethargy, coma, and even a serious clinical picture leading to death. In this case report, we aimed to present a case with anticholinergic syndrome that developed after ingestion of the fruit called “Deadly Nightshade” in our country. PMID:27366377

  17. [What Lessons Should We Learn from the Death of Patients on Xeplion?].

    Science.gov (United States)

    Fujii, Yasuo

    2015-01-01

    From the launch of the long-acting injectable antipsychotic paliperidone palmitate (XEPLION) on November 19, 2013, 32 fatal cases had been reported up to May 18, 2014 (estimated number of users is approximately 11,000 patients) in the Early Post-marketing Phase Vigilance. The most common cause of death was sudden death (12 cases were sudden death defined by ICD-10 codes 96.0 and 96.1 and 4 cases suspected sudden death), followed by suicide (7 cases), and neuroleptic malignant syndrome (4 cases). Several deaths occurred involving patients with serious somatic disorder, such as a malignant tumor or pneumonia. The risk of all-cause mortality on XEPLION was not high in comparison with other investigations; the sudden death risk on XEPLION may be higher than on ZODIAC. According to many reports from foreign countries, mortality rates associated with schizophrenia are two to three times higher than those of the general population, corresponding to a 10-25-year reduction in life expectancy. Natural deaths account for about 60% of the excess mortality of schizophrenia patients, and such patients are more likely to die from ischemic heart disease. Since it has been suggested that more than half of sudden deaths in schizophrenic patients have a cardiac origin, sudden cardiac deaths are chiefly responsible for their reduced life expectancy. This sudden death-related problem of patients with schizophrenia has been forgotten or ignored in the psychiatric care of Japan. Taking advantage of this opportunity, we should tackle this problem seriously, and make an effort to reduce the mortality gap.

  18. Role and regulation of apoptotic cell death in the kidney. Y2K update.

    Science.gov (United States)

    Ortiz, A; Lorz, C; Catalan, M P; Justo, P; Egido, J

    2000-08-01

    Apoptosis is an active form of cell death that, in balance with mitosis, regulates cell number. Cell number abnormalities are a frequent feature of renal disease. We now review current concepts on the molecular regulation of apoptotic cell death, including the influence of survival and lethal factors from the extracellular microenvironment as well as the role of intracellular regulators of apoptosis, such as death receptors, proapoptotic and antiapoptotic bcl2-related proteins, the mitochondria and caspases. In addition the role of apoptosis in the genesis, persistence and progression and remodeling and resolution of renal injury is discussed. Information on the expression and function of apoptosis regulatory proteins in specific renal syndromes is summarized. Finally, future perspectives in research and clinical intervention are discussed.

  19. The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome

    Directory of Open Access Journals (Sweden)

    Heta Huttunen

    2018-04-01

    Full Text Available ObjectiveTwo missense mutations in KCNQ1, an imprinted gene that encodes the alpha subunit of the voltage-gated potassium channel Kv7.1, cause autosomal dominant growth hormone deficiency and maternally inherited gingival fibromatosis. We evaluated endocrine features, birth size, and subsequent somatic growth of patients with long QT syndrome 1 (LQT1 due to loss-of-function mutations in KCNQ1.DesignMedical records of 104 patients with LQT1 in a single tertiary care center between 1995 and 2015 were retrospectively reviewed.MethodsClinical and endocrine data of the LQT1 patients were included in the analyses.ResultsAt birth, patients with a maternally inherited mutation (n = 52 were shorter than those with paternal inheritance of the mutation (n = 29 (birth length, −0.70 ± 1.1 SDS vs. −0.2 ± 1.0 SDS, P < 0.05. Further analyses showed, however, that only newborns (n = 19 of mothers who had received beta blockers during pregnancy were shorter and lighter at birth than those with paternal inheritance of the mutation (n = 29 (−0.89 ± 1.0 SDS vs. −0.20 ± 1.0 SDS, P < 0.05; and 3,173 ± 469 vs. 3,515 ± 466 g, P < 0.05. Maternal beta blocker treatment during the pregnancy was also associated with lower cord blood TSH levels (P = 0.011 and significant catch-up growth during the first year of life (Δ0.08 SDS/month, P = 0.004. Later, childhood growth of the patients was unremarkable.ConclusionLoss-of-function mutations in KCNQ1 are not associated with abnormalities in growth, whereas maternal beta blocker use during pregnancy seems to modify prenatal growth of LQT1 patients—a phenomenon followed by catch-up growth after birth.

  20. Nodding syndrome in Kitgum District, Uganda: association with conflict and internal displacement.

    Science.gov (United States)

    Landis, Jesa L; Palmer, Valerie S; Spencer, Peter S

    2014-11-04

    To test for any temporal association of Nodding syndrome with wartime conflict, casualties and household displacement in Kitgum District, northern Uganda. Data were obtained from publicly available information reported by the Ugandan Ministry of Health (MOH), the Armed Conflict Location & Event Data (ACLED) Project of the University of Sussex in the UK, peer-reviewed publications in professional journals and other sources. Reports of Nodding syndrome began to appear in 1997, with the first recorded cases in Kitgum District in 1998. Cases rapidly increased annually beginning in 2001, with peaks in 2003-2005 and 2008, 5-6 years after peaks in the number of wartime conflicts and deaths. Additionally, peaks of Nodding syndrome cases followed peak influxes 5-7 years earlier of households into internal displacement camps. Peaks of Nodding syndrome reported by the MOH are associated with, but temporally displaced from, peaks of wartime conflicts, deaths and household internment, where infectious disease was rampant and food insecurity rife. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  1. Hyper Ig E syndrome (Job syndrome, HIES) – radiological images of pulmonary complications on the basis of three cases

    International Nuclear Information System (INIS)

    Jończyk-Potoczna, Katarzyna; Szczawińska-Popłonyk, Aleksandra; Warzywoda, Małgorzata; Bręborowicz, Anna; Pawlak, Bogdan

    2012-01-01

    Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, Job syndrome, HIES) is a complex immune deficiency with multiorgan clinical manifestations and diverse genetic background. The clinical triad of symptoms observed in approximately 75% of patients with HIES includes: recurrent abscesses of staphylococcal etiology, recurrent respiratory infections and elevated immunoglobulin E in serum. The paper discusses three cases of female patients presenting typical pulmonary complications of the hyper-Ig E syndrome. In the first case, the development of aspergilloma in a postinflamatory cyst was observed, in the other one, pneumonia with pleural effusion, and as a consequence of inflammatory infiltrations – fibrotic changes, giving rise to lobectomy, while in the last of these cases, the course of lung disease was complicated by formation of staphylococcal abscess. In one of the girls, bronchiectasis appeared at follow-up. Complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Late diagnosis significantly worsens the respiratory function and reduces the chance for normal development of a child. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences. Therefore, the important role is attributed to the radiologist in the multidisciplinary care of patients with this syndrome

  2. Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.

    Science.gov (United States)

    Takasawa, Kei; Takishima, Shigeru; Morioka, Chikako; Nishioka, Masato; Ohashi, Hirofumi; Aoki, Yoko; Shimohira, Masayuki; Kashimada, Kenichi; Morio, Tomohiro

    2015-10-01

    Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is caused by a heterozygous c.4A>G mutation in SHOC2. Most cases exhibit both growth hormone deficiency (GHD) and growth hormone insensitivity (GHI) and thus require a high dose of growth hormone (GH) therapy (e.g., 35-40 µg/kg/day). We report on a genetically diagnosed NS/LAH patient manifesting severe short stature (-3.85 SDs) with low serum level of IGF1, 30 ng/ml. The peak levels of GH stimulation tests were within the normal range, and GHI was not observed in the IGF1 generation test. However, with low-dose GH therapy (25 µg/kg/day) for two years, IGF1 level and height were remarkably improved (IGF1: 117 ng/ml, height SDs: -2.20 SDs). Further, catch-up of motor development and improvement of the proportion of extending limbs to trunk were observed (the Developmental Quotient score increased from 68 to 98 points, and the relative sitting height ratio decreased from 0.62 to 0.57). Our results suggest that endocrinological causes for short stature are variable in NS/LAH and that GH therapy should be considered as a possible treatment for delayed development in NS/LAH. © 2015 Wiley Periodicals, Inc.

  3. Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Gwang Jun; Lee, Eun Sil [Chung-Ang University School of Medicine, Seoul (Korea, Republic of)

    2009-04-15

    We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28{sup +3} weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.

  4. Cost-effectiveness Analysis of Rivaroxaban in the Secondary Prevention of Acute Coronary Syndromes in Sweden

    NARCIS (Netherlands)

    Begum, N.; Stephens, S.; Schoeman, O.; Fraschke, A.; Kirsch, B.; Briere, J.B.; Verheugt, F.W.A.; Hout, B.A. van

    2015-01-01

    BACKGROUND: Worldwide, coronary heart disease accounts for 7 million deaths each year. In Sweden, acute coronary syndrome (ACS) is a leading cause of hospitalization and is responsible for 1 in 4 deaths. OBJECTIVE: The aim of this analysis was to assess the cost-effectiveness of rivaroxaban 2.5 mg

  5. Hutchinson-Gilford Progeria Syndrome

    Directory of Open Access Journals (Sweden)

    Gopal G

    2014-08-01

    Full Text Available Hutchinson-Gilford Progeria syndrome (HGPS is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of HGPS is uncertain, though both autosomal dominant and autosomal recessive modes have been described. Recent genetic studies have demonstrated mutations in the LMNA gene in children with HGPS. In this article, we report a 16 years old girl who had the phenotypic features of HGPS and was later confirmed to have LMNA mutation by genetic analysis.

  6. COTARD SYNDROME IN SEMANTIC DEMENTIA

    Science.gov (United States)

    Mendez, Mario F.; Ramírez-Bermúdez, Jesús

    2011-01-01

    Background Semantic dementia is a neurodegenerative disorder characterized by the loss of meaning of words or concepts. semantic dementia can offer potential insights into the mechanisms of content-specific delusions. Objective The authors present a rare case of semantic dementia with Cotard syndrome, a delusion characterized by nihilism or self-negation. Method The semantic deficits and other features of semantic dementia were evaluated in relation to the patient's Cotard syndrome. Results Mrs. A developed the delusional belief that she was wasting and dying. This occurred after she lost knowledge for her somatic discomforts and sensations and for the organs that were the source of these sensations. Her nihilistic beliefs appeared to emerge from her misunderstanding of her somatic sensations. Conclusion This unique patient suggests that a mechanism for Cotard syndrome is difficulty interpreting the nature and source of internal pains and sensations. We propose that loss of semantic knowledge about one's own body may lead to the delusion of nihilism or death. PMID:22054629

  7. Alström syndrome is associated with short stature and reduced GH reserve.

    Science.gov (United States)

    Romano, S; Maffei, P; Bettini, V; Milan, G; Favaretto, F; Gardiman, M; Marshall, J D; Greggio, N A; Pozzan, G B; Collin, G B; Naggert, J K; Bronson, R; Vettor, R

    2013-10-01

    Alström syndrome (ALMS) is a rare autosomal recessive monogenic disease included in an emerging class of genetic disorders called 'ciliopathies' and is likely to impact the central nervous system as well as metabolic and endocrine function. Individuals with ALMS present clinical features resembling a growth hormone deficiency (GHD) condition, but thus far no study has specifically investigated this aspect in a large population. Twenty-three patients with ALMS (age, 1-52 years; 11 males, 12 females) were evaluated for anthropometric parameters (growth charts and standard deviation score (SDS) of height, weight, BMI), GH secretion by growth hormone-releasing hormone + arginine test (GHRH-arg), bone age, and hypothalamic-pituitary magnetic resonance imaging (MRI). A group of 17 healthy subjects served as controls in the GH secretion study. Longitudinal retrospective and prospective data were utilized. The length-for-age measurements from birth to 36 months showed normal growth with most values falling within -0·67 SDS to +1·28 SDS. A progressive decrease in stature-for-age was observed after 10 years of age, with a low final height in almost all ALMS subjects (>16-20 years; mean SDS, -2·22 ± 1·16). The subset of 12 patients with ALMS tested for GHRH-arg showed a significantly shorter stature than age-matched controls (154·7 ± 10·6 cm vs 162·9 ± 4·8 cm, P = 0·009) and a mild increase in BMI (Kg/m(2) ) (27·8 ± 4·8 vs 24·1 ± 2·5, P = 0·007). Peak GH after GHRH-arg was significantly lower in patients with ALMS in comparison with controls (11·9 ± 6·9 μg/l vs 86·1 ± 33·2 μg/l, P short stature reported in ALMS may be at least partially influenced by impairment of GH secretion. © 2013 John Wiley & Sons Ltd.

  8. Enrichment and identification of integral membrane proteins from barley aleurone layers by reversed-phase chromatography, SDS-PAGE and LC-MS/MS

    DEFF Research Database (Denmark)

    Hynek, Radovan; Svensson, Birte; Nørregaard Jensen, Ole

    2006-01-01

    was developed, comprising batch reversed-phase chromatography with stepwise elution of hydrophobic proteins by 2-propanol. Proteins in the most hydrophobic fraction were separated by SDS-PAGE and identified by LC-MS/MS and barley EST sequence database search. The method was efficient for enrichment of integral...

  9. A STUDY OF METABOLIC SYNDROME IN PATIENTS UNDERGOING CORONARY ANGIOGRAPHY AT KIMS HOSPITAL, HUBBALLI, KARNATAKA, INDIA

    Directory of Open Access Journals (Sweden)

    Chandrashekar K

    2018-01-01

    Full Text Available BACKGROUND Coronary heart disease has become an epidemic since 20th century. Deaths due to the same are increasing of around 17.5 million deaths in year 2012. The deaths are increasing more in developing countries and metabolic syndrome is a cluster of disorders, which are promoting the development of coronary artery diseases. The disorders include central obesity, insulin resistance, dyslipidaemia and hypertension. Increasing prevalence, changing lifestyle and progression of the disease without obvious symptoms had led to increasing morbidity and mortality. The non-infectious epidemic of the century is posing great challenges to healthcare and research in development of more infrastructure and funds to prevent and treat the disease. MATERIALS AND METHODS A total of 100 patients diagnosed with CAD and posted for Coronary Angiogram (CAG in ICCU at KIMS Hospital, Hubballi, were studied over a period of one and a half year. Cases were categorised according to ATPIII and new IDF criteria for metabolic syndrome and compared. Clinical evaluation, ECG, lipid profile and 2D-echo was done. Statistical analysis done using unpaired t-test, Mann-Whitney tests, Chi-square test and Kappa statistics. RESULTS Of the total 100, 57 had metabolic syndrome by either ATP criteria or IDF criteria. Kappa=0.859 (p-value 150 mg/dL and DM or FBS >100 mg/dL (p value <0.001. The mean values of SBP (144.0 vs. 120.8, DBP (85.6 vs. 73.8 and waist circumference (95.4 vs. 87.7 was statistically significant (p value <0.01 between patients with metabolic syndrome and without metabolic syndrome with IDF criteria (p value <0.001. It was observed LAD (28.1% was the most common vessel involved individually. There was no much significance related to metabolic syndrome. Incidence of CAD was more common in patients with metabolic syndrome than other group. CONCLUSION The prevalence of metabolic syndrome was high in patients with CAD. Both metabolic syndrome definitions identify subset

  10. Sds-page based genetic divergence in safflower (carthamus tinctorius l.)

    International Nuclear Information System (INIS)

    Shinwari, Z.K.; Rehman, H.; Rabbani, M.A.

    2014-01-01

    Safflower (Carthamus tinctorius L.) germplasm, comprising of 116 accessions was characterized using Sodium Dodecyl Sulfate Polyacrylamide Gel Electrophoresis (SDS-PAGE) of seed storage proteins. The germplasm was acquired from different countries of the world. Total seed proteins were separated through electrophoresis polyacrylamide gels using standard protocols. Eighteen (60%) of the protein bands detected were polymorphic, the rest being monomorphic. Eight bands (14, 17, 18, 19, 20, 23, 24 and 25) were more than 80% common in all accessions. Similarity coefficients among the accessions ranged from 0.00 to 1.00. Accessions 16327 and 26752 were the most divergent genotypes having maximum dissimilarity with all the other accessions used. Unweighted Pair Group Method with Arithmetic averages (UPGMA) was used which is based on dissimilarity matrix. The dendrogram obtained separated all accessions into four main clusters (I, II, III and IV) and two independent individual genotypes. Four major clusters comprised of 23, 75, 8 and 8 accessions, respectively. This technique did not reveal genetic variability of significant value in safflower genotypes, hence advanced molecular and biochemical markers are recommended for further studies. This study will be helpful for the future breeding program of safflower accessions. (author)

  11. Development of liquid poison injection system (SDS-2) for 500 MWe PHWRs

    International Nuclear Information System (INIS)

    Nawathe, Shirish; Umashankari, P.; Balakrishnan, Kamala; Mahajan, S.C.; Kakodkar, A.

    1991-01-01

    A secondary shut-down system (SDS-2) in the form of a mecahnism for introducing poison into the moderator of the PHWR is under development in Reactor Engineering Division of BARC. The system, as conceived, consists of a tank containing pressurised helium connected to poison tanks through quick opening solenoid valves. The tanks are connected to horizontal injection tubes in the calandria. On system actuation, gadolinium nitrate solution from the tanks passes to the injection tubes which have a number of holes through which the poison enters the moderator. This report details the development work being done on this poison injection system. An experimental facility was set up to measure the poison jet growth rate and the jet spread after injection, and mathematical models were developed to convert the observed jets into reactivity worth values. A description of the work and the computed results are presented. (author). 21 graphs. , 15 tabs

  12. Brugada syndrome: report of the second consensus conference

    NARCIS (Netherlands)

    Antzelevitch, Charles; Brugada, Pedro; Borggrefe, Martin; Brugada, Josep; Brugada, Ramon; Corrado, Domenico; Gussak, Ihor; LeMarec, Herve; Nademanee, Koonlawee; Perez Riera, Andres Ricardo; Shimizu, Wataru; Schulze-Bahr, Eric; Tan, Hanno; Wilde, Arthur

    2005-01-01

    Since its introduction as a clinical entity in 1992, the Brugada syndrome has progressed from being a rare disease to one that is second only to automobile accidents as a cause of death among young adults in some countries. Electrocardiographically characterized by a distinct ST-segment elevation in

  13. The definition of the Brugada syndrome.

    Science.gov (United States)

    Sieira, Juan; Brugada, Pedro

    2017-10-21

    Brugada syndrome (BS) is an inherited disease characterized by a coved-type ST-segment elevation in the right precordial leads and increased risk of sudden cardiac death (SCD), in the absence of structural abnormalities. The cornerstone of BS diagnosis and definition, is its characteristic ECG pattern that can be present spontaneously or unmasked by drugs. Brugada syndrome was first described 25 years ago; paradoxically, in an era of great technological development, a new syndrome was described with a technology developed almost a century before. Great scientific knowledge has been gathered since the description of the syndrome. The better understanding of its pathophysiology and genetic basis has led to several modifications in its definition. Despite these facts, the essential, the description of the specific ECG pattern has remained almost unchanged since the initial report. In this article, we present the definition of the BS, the rationale behind it and our thoughts about its future. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

  14. Births and deaths including fetal deaths

    Data.gov (United States)

    U.S. Department of Health & Human Services — Access to a variety of United States birth and death files including fetal deaths: Birth Files, 1968-2009; 1995-2005; Fetal death file, 1982-2005; Mortality files,...

  15. Staging Death, Translating Death, Rehearsing Death: A Photographer’s Apprenticeship in Dying

    Directory of Open Access Journals (Sweden)

    Daniela Fargione

    2010-10-01

    Full Text Available The preponderance of death imagery in the mass media and a recent interest of photography in the practice of death suggest the need to reevaluate our approach to death and dying, especially when violence is involved. This essay is a case study of History of Violence, Claudio Cravero's last photographic project. His collection of "portraits" reproduce apparent dead bodies, mostly attacked in their own domestic spheres, but neither the perpetrator of death (a mysterious murderer?, nor the weapon used (an omnipresent knife, should be considered as main focal points of the artist's inquiry. The undoubtful protagonist of these photographs, instead, is the light, that illuminates fear: not of death itself, rather of the obnoxious indifference to it, as the result of generalized death imagery saturation.     The staged apparent death displayed in Cravero's photographs serve both as a memento mori and as a strategy to come to terms with the idea of death. In short, it is an apprentship in dying through a domesticating translation practice. Eventually, Cravero's History of Violence offers a complex reflection on the interplay between each individual story and macrolevel social History, thus providing some hypotheses of where violence and death fit in that odd geometry of time and space that we call life.

  16. Bardet-biedl syndrome presenting with end stage renal failure

    International Nuclear Information System (INIS)

    Ansari, R.M.; Junejo, A. M.

    2006-01-01

    A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly,obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival. (author)

  17. Recognizing Wellens’ syndrome, a warning sign of critical proximal LAD artery stenosis and impending anterior myocardial infarction

    Directory of Open Access Journals (Sweden)

    Laura Hollar

    2015-10-01

    Full Text Available Wellens’ syndrome, also known as LAD coronary T-wave syndrome or the ‘widow maker’, is a pre-infarction syndrome with non-classical ischemic ECG changes and unremarkable cardiac biomarkers. This syndrome continues to be a ‘can't miss’ for the clinician as delay in urgent angiography and intervention can result in anterior myocardial infarction, left ventricular dysfunction, arrhythmias, and death. We describe a case followed by a discussion of identification criteria and clinical implications.

  18. Radiation pancreatic death. A new radiation injury and its pathologic physiology

    Energy Technology Data Exchange (ETDEWEB)

    Tsubouchi, Susumu [Fukui Medical School, Fukui (Japan)

    1982-03-01

    In lethal radiation injury, the organ which is responsible for gastrointestinal death was sought from the relationship between radiation dose and survival length of hamsters. In this research, a new plateau was found in the range of radiation dose from 30,000 to 60,000 rad. Histological examination revealed that the organ responsible to the survival of the animals in the plateau was Langerhans's (L.'s) island of the pancreas. Acute necrotic changes of L.'s islands was disclosed by blood glucose level, changes in granules of ..cap alpha.. and ..beta.. cells, atrophy of L.'s islands, and by deficiency of blood insulin. The death of hamsters in the plateau is probably due to diabetic syndrome which was induced by the necrosis of L.'s island.

  19. Clinical aspects and prognosis of Brugada syndrome in children

    NARCIS (Netherlands)

    Probst, Vincent; Denjoy, Isabelle; Meregalli, Paola G.; Amirault, Jean-Christophe; Sacher, Frederic; Mansourati, Jacques; Babuty, Dominique; Villain, Elisabeth; Victor, Jacques; Schott, Jean-Jacques; Lupoglazoff, Jean-Marc; Mabo, Philippe; Veltmann, Christian; Jesel, Laurence; Chevalier, Philippe; Clur, Sally-Ann B.; Haissaguerre, Michel; Wolpert, Christian; Le Marec, Herve; Wilde, Arthur A. M.

    2007-01-01

    BACKGROUND: Brugada syndrome is an arrhythmogenic disease characterized by an ECG pattern of ST-segment elevation in the right precordial leads and augmented risk of sudden cardiac death. Little is known about the clinical presentation and prognosis of this disease in children. METHODS AND RESULTS:

  20. Pfeiffer syndrome type 2: case report

    Directory of Open Access Journals (Sweden)

    Maria Kiyoko Oyamada

    Full Text Available OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

  1. Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette syndrome

    OpenAIRE

    Yoko eNagai

    2015-01-01

    This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in epilepsy (small) and tics in Tourette Syndrome (TS). In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g., syncope), or in relation to Sudden Unexpected Death in Epilepsy (SUDEP). Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of e...

  2. The Spectrum of Epidemiology Underlying Sudden Cardiac Death

    Science.gov (United States)

    Hayashi, Meiso; Shimizu, Wataru; Albert, Christine M.

    2015-01-01

    Sudden cardiac death (SCD) from cardiac arrest is a major international public health problem accounting for an estimated 15–20% of all deaths. Although resuscitation rates are generally improving throughout the world, the majority of individuals who suffer a sudden cardiac arrest will not survive. SCD most often develops in older adults with acquired structural heart disease, but it also rarely occurs in the young, where it is more commonly due to inherited disorders. Coronary heart disease (CHD) is known to be the most common pathology underlying SCD, followed by cardiomyopathies, inherited arrhythmia syndromes, and valvular heart disease. Over the past three decades, declines in SCD rates have not been as steep as for other causes of CHD deaths, and there is a growing fraction of SCDs not due to CHD and/or ventricular arrhythmias, particularly among certain subsets of the population. The growing heterogeneity of the pathologies and mechanisms underlying SCD present major challenges for SCD prevention, which are magnified further by a frequent lack of recognition of the underlying cardiac condition prior to death. Multifaceted preventative approaches, which address risk factors in seemingly low risk and known high-risk populations will be required to decrease the burden of SCD. In this Compendium, we review the wide-ranging spectrum of epidemiology underlying SCD within both the general population and in high-risk subsets with established cardiac disease placing an emphasis on recent global trends, remaining uncertainties, and potential targeted preventive strategies. PMID:26044246

  3. Turner syndrome: searching for better outcomes

    Directory of Open Access Journals (Sweden)

    Adauto Versiani Ramos

    2008-01-01

    Full Text Available OBJECTIVES: To assess the results of growth hormone on the growth of girls with Turner Syndrome and identify relevant parameters to improve outcomes. METHODS: Growth velocity and final height were studied in a historical cohort of 41 girls, regularly followed up for hormone distribution at three referral centers. The influence of oxandrolone and of estrogens on the final height was analyzed. The girls (initial chronological age=8.9±3.4years; initial bone age=7.0±3.1years used 0.19 mg/kg/week of growth hormone for 4.0 ± 2.0 years. RESULTS: In the first year, growth velocity increased by 71.5% in 41 girls and 103.4% in those who reached final height (11 girls. The whole group had a gain in the height SDS of 0.8 ± 0.7 (p<0.01 and for those who reached a final height of 1.0 ± 0.8 (p<0.01. Final height (143.6 ±6.3 cm was 3.9 ± 5.3 cm higher than the predicted height, and the height gain occurred before estrogen therapy. Oxandrolone had no significant influence on height gain. The significant variables contributing to the final height were the duration of growth hormone used and its use prior to starting estrogens, the initial height SDS, and the growth velocity during the first year of treatment. CONCLUSIONS: We concluded that the use of growth hormone significantly increased the final height, which remained lower than the target. Results point to a need for starting growth hormone use as early as possible and to maximize treatment before estrogen replacement. It has been observed that even moderate doses of growth hormone may significantly increase early growth velocity.

  4. Munchausen Syndrome by Proxy (MSBP): An Intergenerational Perspective.

    Science.gov (United States)

    Rappaport, Sol R.; Hochstadt, Neil J.

    1993-01-01

    Presents new information about Munchausen Syndrome by Proxy (MSBP), factitious disorder in which caretaker may induce or exaggerate medical illness in his or her child that may lead to illness and even death. Provides psychosocial history of caregiver using intergenerational model. Presents case of MSBP involving three siblings and information…

  5. Heart and coronary artery damage related to Kawasaki syndrome

    Directory of Open Access Journals (Sweden)

    A. A. Leontyeva

    2014-01-01

    Full Text Available Kawasaki syndrome is an acute systemic vasculitis of unknown etiology, which mainly affects children within the first 5 years of fife. At the present time, Kawasaki syndrome is recognized to be a leading cause of acquired organic heart diseases in children, which may result in coronary heart disease, myocardial infarction, and sudden death in children and young people. Most complications are associated with the cardiovascular system, with coronary artery changes in particular. Transthoracic echocardiography, which, besides coronary artery assessment, makes it possible to evaluate right and left ventricular systolic and diastolic functions and to study the cardiac valves and changes in pericardial effusion, is a major technique in Kawasaki syndrome. The paper outlines an update on the epidemiology, etiology, pathogenetic mechanisms, and pathomorphology of Kawasaki syndrome and considers possible coronary and noncoronary changes, outcomes, and clinical manifestations.

  6. Infantile ictal apneas in a child with williams-beuren syndrome.

    Science.gov (United States)

    Myers, Kenneth A; McLeod, D Ross; Bello-Espinosa, Luis

    2013-02-01

    Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. FAT LUNG EMBOLISM AS A PRECIPITATING FINAL CAUSE OF DEATH IN POLVTRAUMATIZED PATIENTS

    Directory of Open Access Journals (Sweden)

    Slobodan Savic

    2001-07-01

    Full Text Available Two studies analyzing the autopsy material of the Institute for ForensicMedicine in Belgrade have been done. The first study (group A was a prospectivehistological one and it comprised the examined in which lung fat embolism was notrecorded as a cause of death in the autopsy protocol conclusion but was confirmed bythe microscopic examination in all the cases. Ali these poly traumatized patients hadan injury that could be an outcome of fat embolism. The second group (group B wasa retrospective autopsy one and it analyzed autopsy protocols and čaše histories ofthepatients who died of the fat embolism syndrome (FES that was the only or competingcause of death. The autopsy records and the čaše histories of ali the patients wereanalyzed; the groups were compared with respect to gender and age, way of gettinginjured, an injury severity score (ISS and the period of living after the injury. Ali theobtained data were processed by corresponding statistic methods. The data analysisled to the conclusion that in the poly traumatized patients the fat lung embolism couldbe a precipitating and flam cause of death either as a singular or as a competitive onecombined with some other. It is obvious that the fat embolism of the lungs and thesystem fat embolism could be accepted as a consequence of every more serious injuryof the fat depots in the organism while a possible later development of the fatembolism syndrome would represent a complication of the injury.

  8. A child of Williams-Beuren syndrome for inguinal hernia repair: Perioperative management concerns

    Directory of Open Access Journals (Sweden)

    Sangeeta Deka

    2016-01-01

    Full Text Available Williams-Beuren syndrome, commonly known as Williams syndrome (WS, is a multi-organ disorder. The principal anomalies of the syndrome are developmental delay, unusual craniofacial dysmorphic features, and cardiovascular anomalies such as valvular or supravalvular aortic stenosis, pulmonary artery stenosis, and coronary insufficiency. Sudden cardiac death during minor procedures even in the absence of gross cardiovascular pathology is the most dreaded complication in these patients. A 7-year-old child with WS was posted for left-sided inguinal hernia repair under general anesthesia. Our article describes the uneventful perioperative course of the patient and highlights the concerns and complications that may be an integral part with the syndrome.

  9. Stiff baby syndrome er en sjælden årsag til neonatal hypertonicitet

    DEFF Research Database (Denmark)

    Rønne, Maria Sode; Nielsen, Preben Berg; Mogensen, Christian Backer

    2014-01-01

    Stiff baby syndrome (hyperekplexia) is a rare genetic disorder. The condition can easily be misdiagnosed as epilepsy or severe sepsis because of hypertonicity and seizure-like episodes and has an increased risk of severe apnoea and sudden infant death. Tapping of the nasal bridge inducing a start...... response is the clinical hallmark. We report cases of two sisters born with stiff baby syndrome with hypertonicity, exaggerated startle reaction and cyanosis. The syndrome has a good prognosis if treated with clonazepam and both cases were developmental normal after one year....

  10. 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.

    Science.gov (United States)

    Ito, Tetsuhide; Igarashi, Hisato; Uehara, Hirotsugu; Berna, Marc J; Jensen, Robert T

    2013-05-01

    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

  11. Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention.

    Science.gov (United States)

    Sereno, María; Aguayo, Cristina; Guillén Ponce, Carmen; Gómez-Raposo, César; Zambrana, Francisco; Gómez-López, Miriam; Casado, Enrique

    2011-09-01

    Gastric cancer is the major cause of cancer-related deaths worldwide. The majority of them are classified as sporadic, whereas the remaining 10% exhibit familial clustering. Hereditary diffuse gastric cancer (HDGC) syndrome is the most important condition that leads to hereditary gastric cancer. However, other hereditary cancer syndromes, such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, Peutz-Jeghers syndrome, Li-Fraumeni syndrome and hereditary breast and ovarian cancer, entail a higher risk compared to the general population for developing this kind of neoplasia. In this review, we describe briefly the most important aspects related to clinical features, molecular biology and strategies for prevention in hereditary gastric associated to different cancer syndromes.

  12. Sodium Dodecyl Sulfate- Polyacrylamide Gel Electrophoresis (SDS- PAGE) of Irradiated Wheat Flour Proteins

    International Nuclear Information System (INIS)

    Souzan, R.M.

    1999-01-01

    Sodium dodecyl sulfate - polyacrylamide gel electrophoresis (SDS-PAGE) of wheat (Triticum aestivum L) flour have revealed 23 polypeptides of molecular weights between 170 and 11.57 KDa, High molecular weight glutenin subunits (LMW-GS) were distinguished. Densitometric analysis of the gel showed the effect of radiation on polypeptide constitution at radiation energy up to 7.5 kGy. Irradiation of wheat flour with 2.5 kGy have resulted in a slight increase in the molecular weight of wheat flour protein subunits. The increase of irradiation dose to 5.0 kGy has also induced an additional increase of molecular weight of protein subunits. The continuity in application of more radiation energy to a level of 7.5 kGy have resulted in the prevalence of degradation processes of all protein subunits more than the aggregation

  13. Neonatal Death

    Science.gov (United States)

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

  14. Cardiotocographic and Doppler Ultrasonographic Findings in a Fetus with Brain Death Syndrome

    Directory of Open Access Journals (Sweden)

    Yi-Ting Chen

    2006-09-01

    Conclusion: The possibility of intrauterine brain death should be considered in all cases of prolonged fixed FHR pattern, accompanied by absence of neuromuscular parameters of BPP, polyhydramnios and demonstrated cessation of cerebral blood flow by Doppler US. Increased awareness of this event may prevent unnecessary emergency cesarean section.

  15. Impact of chronic kidney disease and stress myocardial perfusion imaging as a predictor of cardiovascular events

    International Nuclear Information System (INIS)

    Furuhashi, Tatsuhiko; Joki, Nobuhiko; Hase, Hiroki; Masai, Hirofumi; Kunimasa, Taeko; Nakazato, Ryo; Fukuda, Hiroshi; Sugi, Kaoru; Moroi, Masao

    2011-01-01

    Stress myocardial perfusion imaging (MPI) is an established means of predicting cardiovascular events and is suitable in chronic kidney disease (CKD) patients. We aimed to evaluate the prognostic value of CKD parameters and an abnormal stress MPI for cardiovascular events. A total of 495 patients with suspected coronary artery disease (CAD) or history of CAD including 130 CKD patients not undergoing hemodialysis, underwent stress MPI (313 males, mean age 70 years) and were followed up for 14 months (mean period). CKD was defined as an estimated GFR of 2 and/or persistent proteinuria. Cardiovascular events were defined as sudden cardiac death, acute coronary syndrome and congestive heart failure requiring hospitalization. Cardiovascular events occurred in 41 (8.3%) patients. Multivariate Cox regression analysis indicated that CKD [hazard ratio (HR) =3.76, p<0.001] and a stress MPI summed difference score (SDS) of ≥2 (HR=3.78, p<0.001) were independent predictors of cardiovascular events; CKD plus abnormal stress MPI was also a strong predictor of cardiovascular events (non-CKD and SDS <2 vs. CKD and SDS ≥2, HR=15.9, p<0.001). Both CKD and myocardial ischemia detected by stress MPI are independent predictors for cardiovascular events. Coexistence of CKD and myocardial ischemia detected by stress MPI is more useful for short-term risk stratification of cardiovascular events. (author)

  16. Death Cafe.

    Science.gov (United States)

    Miles, Lizzy; Corr, Charles A

    2017-06-01

    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.

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

    Science.gov (United States)

    Rognum, Ingvar J.; Tran, Hoa; Haas, Elisabeth A.; Hyland, Keith; Paterson, David S.; Haynes, Robin L.; Broadbelt, Kevin G.; Harty, Brian J.; Mena, Othon; Krous, Henry F.; Kinney, Hannah C.

    2015-01-01

    Clinical biomarkers are urgently needed in the sudden infant death syndrome (SIDS) to identify living infants at risk because it because it occurs without occurs without clinical warning. Previously, we reported multiple serotonergic (5-HT) abnormalities in nuclei of the medulla oblongata that help mediate protective responses to homeostatic stressors. Here we test the hypothesis that 5-HT-related measures are abnormal in the cerebrospinal fluid (CSF) of SIDS infants compared to autopsy controls, as a first step towards their assessment as diagnostic biomarkers of medullary pathology. Levels of CSF 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA), the degradative products of 5-HT and dopamine, respectively, were measured by high performance liquid chromatography in 57 SIDS and 29 non-SIDS autopsy cases. Tryptophan (Trp) and tyrosine (Tyr), the substrates of 5-HT and dopamine, respectively, were also measured. There were no significant differences in 5-HIAA, Trp, HVA, or Tyr levels between the SIDS and non-SIDS groups. These data preclude use of 5-HIAA, HVA, Trp or Tyr measurements as CSF biomarkers of 5-HT medullary pathology in infants at risk. They provide, however, important information about monoaminergic measurements in human CSF at autopsy and their developmental profile in infancy that is applicable to multiple pediatric disorders beyond SIDS. PMID:24423636

  18. Drug hypersensitivity syndrome

    Directory of Open Access Journals (Sweden)

    Rashmi Kumari

    2011-01-01

    Full Text Available Drug hypersensitivity syndrome (DHS is an adverse drug reaction commonly associated with the aromatic antiepileptic drugs (AEDs, viz., phenytoin (PHT, carbamazepine (CBZ, phenobarbital (PB, lamotrigine, primidone, etc. It can also be caused by other drugs, such as sulfonamides, dapsone, minocycline, gold derivatives, cyclosporine, captopril, diltiazem, terbinafine, azathioprine and allopurinol. Diagnosis of DHS may be difficult because of the variety of clinical and laboratory abnormalities and manifestations and because the syndrome may mimic infectious, neoplastic or collagen vascular disorders. The risk for developing hypersensitivity within 60 days of the first or second prescription in new users of PHT or CBZ was estimated to be 2.3-4.5 per 10,000 and 1-4.1 per 10,000, respectively. The syndrome is defined by the fever, skin rash, lymphadenopathy and internal organ involvement within the first 2-8 weeks after initiation of therapy. Internal manifestations include, among others, agranulocytosis, hepatitis, nephritis and myositis. Insufficient detoxification may lead to cell death or contribute to the formation of antigen that triggers an immune reaction. Cross-reactivity among PHT, CBZ and PB is as high as 70%-80%. Management mainly includes immediate withdrawal of the culprit drug, symptomatic treatment and systemic steroids or immunoglobulins.

  19. Impact of treatment for depression on desire for hastened death in patients with advanced AIDS.

    Science.gov (United States)

    Breitbart, William; Rosenfeld, Barry; Gibson, Christopher; Kramer, Michael; Li, Yuelin; Tomarken, Alexis; Nelson, Christian; Pessin, Hayley; Esch, Julie; Galietta, Michele; Garcia, Nerina; Brechtl, John; Schuster, Michael

    2010-01-01

    Despite the development of multi-drug regimens for HIV, palliative care and quality-of-life issues in patients with advanced AIDS remain important areas of clinical investigation. Authors assessed the impact of treatment for depression on desire for hastened death in patients with advanced AIDS. Patients with advanced AIDS (N=372) were interviewed shortly after admission to a palliative-care facility, and were reinterviewed monthly for the next 2 months. Patients diagnosed with a major depressive syndrome were provided with antidepressant treatment and reinterviewed weekly. Desire for hastened death was assessed with two questionnaire measures. Desire for death was highly associated with depression, and it decreased dramatically in patients who responded to antidepressant treatment. Little change in desire for hastened death was observed in patients whose depression did not improve. Although improved depression was not significantly associated with the use of antidepressant medication, those individuals prescribed antidepressant medication showed the largest decreases in desire for hastened death. Successful treatment for depression appears to substantially decrease desire for hastened death in patients with advanced AIDS. The authors discuss implications of these findings for palliative-care treatment and the physician-assisted suicide debate.

  20. Mortality of Inherited Arrhythmia Syndromes Insight Into Their Natural History

    NARCIS (Netherlands)

    Nannenberg, Eline A.; Sijbrands, Eric J. G.; Dijksman, Lea M.; Alders, Marielle; van Tintelen, J. Peter; Birnie, Martijn; van Langen, Irene M.; Wilde, Arthur A. M.

    Background-For most arrhythmia syndromes, the risk of sudden cardiac death for asymptomatic mutation carriers is ill defined. Data on the natural history of these diseases, therefore, are essential. The family tree mortality ratio method offers the unique possibility to study the natural history at

  1. Coronary ostium occlusion by coronary cusp displacement in Williams syndrome.

    Science.gov (United States)

    Shiohama, Tadashi; Fujii, Katsunori; Ebata, Ryota; Funabashi, Nobusada; Matsumiya, Goro; Saito, Yuko Kazato; Takechi, Fumie; Yonemori, Yoko; Nakatani, Yukio; Shimojo, Naoki

    2016-06-01

    Williams syndrome is a contiguous gene deletion syndrome resulting from a heterozygous deletion on chromosome 7q11.23, and is characterized by distinctive facial features and supravalvular aortic stenosis (SVAS). This syndrome rarely presents unpredictable cardiac death, and yet, as illustrated in the present case, it is still not possible to predict it, even on close monitoring. We herein describe the case of a 6-year-old Japanese girl with Williams syndrome, who had sudden cardiac collapse due to cardiac infarction after pharyngitis. Cardiac failure followed a critical course that did not respond to catecholamine support or heart rest with extracardiac mechanical support. Although marked coronary stenosis was not present, the left coronary cusp abnormally adhered to the aortic wall, which may synergistically cause coronary ostium occlusion with SVAS. Altered hemodynamic state, even that caused by the common cold, may lead to critical myocardial events in Williams syndrome with SVAS. © 2015 Japan Pediatric Society.

  2. Electrophysiological evaluation of Wolff-Parkinson-White Syndrome

    Science.gov (United States)

    Brembilla-Perrot, Beatrice

    2002-01-01

    Sudden death might complicate the follow-up of symptomatic patients with the Wolff-Parkinson-White syndrome (WPW) and might be the first event in patients with asymptomatic WPW. The risk of sudden death is increased in some clinical situations. Generally, the noninvasive studies are unable to predict the risk of sudden death correctly . The electrophysiological study is the best means to detect the risk of sudden death and to evaluate the nature of symptoms. Methods used to define the prognosis of WPW are well-defined. At first the maximal rate of conduction through the accessory pathway is evaluated; programmed atrial stimulation using 1 and 2 extrastimuli delivered at different cycle lengths is then used to determine the accessory pathway refractory period and to induce a supraventricular tachycardia. These methods should be performed in the control state and repeated in adrenergic situations either during exercise test or more simply during a perfusion of small doses of isoproterenol. The induction of an atrial fibrillation with rapid conduction through the accessory pathway (> 240/min in control state, > 300/min after isoproterenol) is the sign of a form of WPW at risk of sudden death. PMID:16951730

  3. Electrophysiological evaluation of Wolff-Parkinson-White Syndrome

    Directory of Open Access Journals (Sweden)

    Béatrice Brembilla-Perrot

    2002-10-01

    Full Text Available Sudden death might complicate the follow-up of symptomatic patients with the Wolff-Parkinson-White syndrome (WPW and might be the first event in patients with asymptomatic WPW. The risk of sudden death is increased in some clinical situations. Generally, the noninvasive studies are unable to predict the risk of sudden death correctly . The electrophysiological study is the best means to detect the risk of sudden death and to evaluate the nature of symptoms. Methods used to define the prognosis of WPW are well-defined. At first the maximal rate of conduction through the accessory pathway is evaluated; programmed atrial stimulation using 1 and 2 extrastimuli delivered at different cycle lengths is then used to determine the accessory pathway refractory period and to induce a supraventricular tachycardia. These methods should be performed in the control state and repeated in adrenergic situations either during exercise test or more simply during a perfusion of small doses of isoproterenol. The induction of an atrial fibrillation with rapid conduction through the accessory pathway (> 240/min in control state, > 300/min after isoproterenol is the sign of a form of WPW at risk of sudden death.

  4. Competing causes of death: a death certificate study

    NARCIS (Netherlands)

    Mackenbach, J. P.; Kunst, A. E.; Lautenbach, H.; Oei, Y. B.; Bijlsma, F.

    1997-01-01

    BACKGROUND: Despite the widespread interest in competing causes of death, empirical information on interrelationships between causes of death is scarce. We have used death certificate information to estimate the prevalence of competing causes of death at the moment of dying from specific underlying

  5. NETs: The missing link between cell death and systemic autoimmune diseases?

    Directory of Open Access Journals (Sweden)

    Felipe eAndrade

    2013-01-01

    Full Text Available For almost 20 years, apoptosis and secondary necrosis have been considered the major source of autoantigens and endogenous adjuvants in the pathogenic model of systemic autoimmune diseases. This focus is justified in part because initial evidence in systemic lupus erythematosus (SLE guided investigators toward the study of apoptosis, but also because other forms of cell death were unknown. To date, it is known that many other forms of cell death occur, and that they vary in their capacity to stimulate as well as inhibit the immune system. Among these, NETosis (an antimicrobial form of death in neutrophils in which nuclear material is extruded from the cell forming extracellular traps, is gaining major interest as a process that may trigger some of the immune features found in SLE, granulomatosis with polyangiitis (formerly Wegener’s granulomatosis and Felty’s syndrome. Although there have been volumes of very compelling studies published on the role of cell death in autoimmunity, no unifying theory has been adopted nor have any successful therapeutics been developed based on this important pathway. The recent inclusion of NETosis into the pathogenic model of autoimmune diseases certainly adds novel insights into this paradigm, but also reveals a previously unappreciated level of complexity and raises many new questions. This review discusses the role of cell death in systemic autoimmune diseases with a focus on apoptosis and NETosis, highlights the current short comings in our understanding of the vast complexity of cell death, and considers the potential shift in the cell death paradigm in autoimmunity. Understanding this complexity is critical in order to develop tools to clearly define the death pathways that are active in systemic autoimmune diseases, identify drivers of disease propagation, and develop novel therapeutics.

  6. Cell Death and Heart Failure in Obesity: Role of Uncoupling Proteins

    Directory of Open Access Journals (Sweden)

    Angélica Ruiz-Ramírez

    2016-01-01

    Full Text Available Metabolic diseases such as obesity, metabolic syndrome, and type II diabetes are often characterized by increased reactive oxygen species (ROS generation in mitochondrial respiratory complexes, associated with fat accumulation in cardiomyocytes, skeletal muscle, and hepatocytes. Several rodents studies showed that lipid accumulation in cardiac myocytes produces lipotoxicity that causes apoptosis and leads to heart failure, a dynamic pathological process. Meanwhile, several tissues including cardiac tissue develop an adaptive mechanism against oxidative stress and lipotoxicity by overexpressing uncoupling proteins (UCPs, specific mitochondrial membrane proteins. In heart from rodent and human with obesity, UCP2 and UCP3 may protect cardiomyocytes from death and from a state progressing to heart failure by downregulating programmed cell death. UCP activation may affect cytochrome c and proapoptotic protein release from mitochondria by reducing ROS generation and apoptotic cell death. Therefore the aim of this review is to discuss recent findings regarding the role that UCPs play in cardiomyocyte survival by protecting against ROS generation and maintaining bioenergetic metabolism homeostasis to promote heart protection.

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

    Directory of Open Access Journals (Sweden)

    Laura Giambanco

    2014-01-01

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

  8. Arousal responses in babies at risk of sudden infant death syndrome at different postnatal ages.

    LENUS (Irish Health Repository)

    Dunne, K P

    1992-03-01

    Hypercarbic and hypoxic arousal responses during sleep were measured in healthy term infants, infants where a previous sibling died from sudden infant death syndrome (SIDS) and infants suffering a clearly defined apparent life threatening event (ALTE) requiring vigorous or mouth to mouth resuscitation. Groups of infants were tested at approximately one, six and 13 weeks postnatally. Arousal was defined as gross body movement with eyes opening and moving or crying. Hypercarbic arousal was by step increases in F1 Co2 until arousal occurred or until endtidal (PETCO2) reached 8.7 KpA (65 mm Hg) Hypoxic arousal was by step decreases in FIO2 until arousal occurred or until an FIO2 of 0.15 had been maintained for 20 minutes. There was no difference in hypercaribic arousal threshold with age in any group. Hypercarbic arousal threshold was significantly higher in siblings (mean 53.4, 53.6, 54.7 mmHg. [7.12, 7.14, 7.29 KPA] at 0, 6, 13 postnatal weeks) compared to controls (mean 50.9, 52.3, 53.0mm Hg. [6.78, 6.97, 7.29 KPS respectively). ALTE infants differed only at 12 weeks having a significantly lower threshold (51.0mmHg. [6.80 KPA] V 53.0mm Hg. (7.06 KPA]) compared to controls. There was no difference in hypoxic arousal response with age in any group. An arousal response to hypoxia occurred in only 22% of ALTE infants and 40% of siblings compared to 67% of normal infants. Deficient sleep arousal, especially to hypoxia, is common in infants and especially those considered at increased risk from SIDS. This deficiency is present in the first postnatal week and did not vary overy the first three months of postnatal life.

  9. Solubility limit of methyl red and methylene blue in microemulsions and liquid crystals of water, sds and pentanol systems

    OpenAIRE

    Beri, D.; Pratami, A.; Gobah, P. L.; Dwimala, P.; Amran, A.

    2017-01-01

    Solubility of dyes in amphiphilic association structures of water, SDS and penthanol system (i.e. in the phases of microemulsions and liquid crystals) was attracted much interest due to its wide industrial and technological applications. This research was focused on understanding the solubility limitation of methyl red and methylene blue in microemulsion and liquid crystal phases. Experimental results showed that the highest solubility of methyl red was in LLC, followed by w/o microemulsion a...

  10. Kinky hair syndrome - a case report -

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Kim, In One; Chi, Je G.; Moon, Hyung Ro

    1986-01-01

    Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severe neuro degenerative change and infant death. In 1962, Menges and associates described five boys of a related pedigree with severe psychomotor retardation, seizures and widespread cerebral and cerebellar degeneration. In 1969, Weissenberg and associates specified the radiological characterization of the syndrome. Symmetrical metaphyseal spurring and diaphyseal periosteal reaction of the long bones, anterior rib flaring, a malformed cerebral arterial system and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect of copper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinical picture, and report cerebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSA and post-mortem angiography.

  11. Extracorporeal life support for cardiac arrest in a 13-year-old girl caused by Wolff-Parkinson-White syndrome.

    Science.gov (United States)

    Song, Kyoung Hwan; Lee, Byung Kook; Jeung, Kyung Woon; Lee, Dong Hun

    2015-10-01

    Generally, Wolff-Parkinson-White (WPW) syndrome presents good prognosis. However, several case reports demonstrated malignant arrhythmia or sudden cardiac death as WPW syndrome's first presentation. Cardiopulmonary resuscitation using extracorporeal life support is a therapeutic option in refractory cardiac arrest. We present a WPW syndrome patient who had sudden cardiac arrest as the first presentation of the disease and treated it using extracorporeal life support with good neurologic outcome.

  12. Cancer as a cause of death among people with AIDS in the United States

    Science.gov (United States)

    Simard, Edgar P.; Engels, Eric A.

    2010-01-01

    Background People with human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS), are at increased risk for cancer. Highly active antiretroviral therapy [(HAART), widely available since 1996] has resulted in dramatic declines in AIDS-related deaths. Methods We evaluated cancer as a cause of death in a U.S. registry-based cohort of 83,282 people with AIDS (1980–2006). Causes of death due to AIDS-defining cancers (ADCs) and non-AIDS-defining cancers (NADCs) were assessed. We evaluated mortality rates and the fraction of deaths due to cancer. Poisson regression assessed rates according to calendar year of AIDS onset. Results Overall mortality declined from 302 (1980–1989), to 140 (1990–1995), to 29 per 1,000 person-years (1996–2006). ADC mortality declined from 2.95 (1980–1989) to 0.65 per 1,000 person-years (1996–2006) (PAIDS-related deaths. Non-Hodgkin lymphoma was the commonest cancer-related cause of death (36% during 1996–2006). Likewise, NADC mortality declined from 2.21 to 0.84 per 1,000 person-years (1980–1989 vs. 1996–2006, PAIDS, cancers account for a growing fraction of deaths. Improved cancer prevention and treatment, particularly for non-Hodgkin lymphoma and lung cancer, would reduce mortality among people with AIDS. PMID:20825305

  13. Aortic microcalcification is associated with elastin fragmentation in Marfan syndrome

    NARCIS (Netherlands)

    Wanga, Shaynah; Hibender, Stijntje; Ridwan, Yanto; van Roomen, Cindy; Vos, Mariska; van der Made, Ingeborg; van Vliet, Nicole; Franken, Romy; van Riel, Luigi Amjg; Groenink, Maarten; Zwinderman, Aeilko H.; Mulder, Barbara Jm; de Vries, Carlie Jm; Essers, Jeroen; de Waard, Vivian

    2017-01-01

    Marfan syndrome (MFS) is a connective tissue disorder in which aortic rupture is the major cause of death. MFS patients with an aortic diameter below the advised limit for prophylactic surgery ( <5 cm) may unexpectedly experience an aortic dissection or rupture, despite yearly monitoring. Hence,

  14. Mortality risk in a nationwide cohort of individuals with tic disorders and with tourette syndrome.

    Science.gov (United States)

    Meier, Sandra M; Dalsgaard, Søren; Mortensen, Preben B; Leckman, James F; Plessen, Kerstin J

    2017-04-01

    Few studies have investigated mortality risk in individuals with tic disorders. We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders. The risk of premature death was higher among individuals with tic disorders (mortality rate ratio, 2.02; 95% CI, 1.49-2.66) and with Tourette syndrome (mortality rate ratio, 1.63; 95% CI, 1.11-2.28) compared with controls. After the exclusion of individuals with comorbid attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and substance abuse, tic disorder remained associated with increased mortality risk (mortality rate ratio, 2.30; 95% CI, 1.57-3.23), as did also Tourette Syndrome (mortality rate ratio, 1.81; 95% CI, 1.11-2.75). These results are of clinical significance for clinicians and advocacy organizations. Several factors may contribute to this increased risk of premature death, and more research mapping out these factors is needed. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  15. The Brugada syndrome. Outcome of one case

    Directory of Open Access Journals (Sweden)

    Maia Ivan G.

    2000-01-01

    Full Text Available The Brugada syndrome is a rare condition, and due to its mutating manner of presentation it may be difficult to diagnose. We report one case and discuss the diagnostic aspects and the clinical outcome of one patient with characteristic findings of this syndrome. These findings are especially defined by J-ST elevation in the right leads of serial electrocardiographic records, wide oscillations of J points and ST segments during 24-hour Holter monitoring, and nocturnal sudden death. We stress the importance of the Holter monitor findings for diagnostic complementation. Through this method it is possible to establish a correlation between vigil activities and sleep and the variability of the degree of impairment in ventricular repolarization.

  16. Low disease prevalence and inappropriate implantable cardioverter defibrillator shock rate in Brugada syndrome

    DEFF Research Database (Denmark)

    Holst, Anders Gaarsdal; Jensen, Henrik Kjærulf; Eschen, Ole

    2012-01-01

    AimsBrugada syndrome (BrS) is an inherited channelopathy that predisposes to malignant ventricular arrhythmias and thereby syncope and sudden cardiac death. Prior studies characterizing BrS patients have used highly selected referral populations from tertiary centres and prevalence estimates have...... been carried out using electrocardiogram (ECG) surveys only. We aimed to identify and characterize all diagnosed BrS patients in Denmark (population 5.4 million).Methods and resultsBrugada syndrome patients were identified using several modalities including identification in all Danish tertiary......%) experienced inappropriate shocks during a median follow-up of 47 months. No patient died or experienced aborted sudden cardiac death during follow-up.ConclusionsWe report the first nationwide study of BrS patients. We found a low incidence of diagnosed definite BrS compared with estimates from ECG surveys...

  17. White-Nose Syndrome Fungus (Geomyces destructans) in Bat, France

    Science.gov (United States)

    Puechmaille, Sébastien J.; Verdeyroux, Pascal; Fuller, Hubert; Gouilh, Meriadeg Ar; Bekaert, Michaël

    2010-01-01

    White-nose syndrome is caused by the fungus Geomyces destructans and is responsible for the deaths of >1,000,000 bats since 2006. This disease and fungus had been restricted to the northeastern United States. We detected this fungus in a bat in France and assessed the implications of this finding. PMID:20113562

  18. Thyroid gland and cerebella lesions: New risk factors for sudden cardiac death in schizophrenia?

    Science.gov (United States)

    Scorza, Fulvio A; Cavalheiro, Esper A; de Albuquerque, Marly; de Albuquerque, Juliana; Cysneiros, Roberta M; Terra, Vera C; Arida, Ricardo M

    2011-02-01

    People with schizophrenia show a two to threefold increased risk to die prematurely than those without schizophrenia. Patients' life style, suicide, premature development of cardiovascular disease, high prevalence of metabolic syndrome and sudden cardiac death are well-known causes of the excess mortality. The exact pathophysiological cause of sudden death in schizophrenia is unknown, but it is likely that cardiac arrhythmia and respiratory abnormalities play potential role. Some antipsychotics may be associated with cardiovascular adverse events (e.g., QT interval prolongation) and lesions in specific brain regions, such as cerebella may be associated with respiratory abnormalities, suggesting that metabolic and brain dysfunction could lead to sudden cardiac death in patients with schizophrenia. However, exact knowledge regarding the association of these findings and schizophrenia is lacking. As subclinical hyperthyroidism has been linked with increased risk of cardiovascular disease and cerebella progressive atrophy has been observed in patients with schizophrenia, we propose in this paper that subclinical thyroid dysfunction and cerebella volume loss could be considered as new risk factor for sudden cardiac death in schizophrenia. Copyright © 2010 Elsevier Ltd. All rights reserved.

  19. RELATIONSHIPS AMONG THYROID HORMONES AND OBESITY SEVERITY, METABOLIC SYNDROME AND ITS COMPONENTS IN TURKISH CHILDREN WITH OBESITY.

    Science.gov (United States)

    Özer, Samet; Bütün, İlknur; Sönmezgöz, Ergün; Yılmaz, Resul; Demir, Osman

    2015-08-01

    we investigated the relationships between thyroid function and obesity severity, metabolic syndrome (MS) and MS components in 260 obese children and adolescents 10-17 years of age. we aimed to determine the association of thyroid functions with obesity severity and the components of metabolic syndrome (MS) in pediatric obese patients. only obese children and adolescents were included, and divided the obese children into three groups according to body mass index (BMI)-SDS quartiles. The first quartile was group 1, the second and third quartiles were group 2, and the fourth quartile was group 3. Group 3 indicated severe obesity. The modified WHO criteria adapted for children were used to diagnose MS. We assessed anthropometric data and serum biochemical parameters, including the lipid profile and fasting glucose (FG), insulin, thyroid-stimulating hormone (TSH), free thyroxine (fT4), and free triiodothyronine (fT3) levels. Blood pressure (BP) was measured with a standard digital sphygmomanometer. The homeostasis model assessment of insulin resistance was calculated to determine insulin resistance (IR). TSH level was significantly higher in obese children with MS than that in the others (p = 0.045). Mean TSH level was not different among the BMI-SDS groups (p = 0.590). TSH levels and the fT3/fT4 ratio were not different in children with dyslipidemia, IR or hypertension (p = 0.515, 0.805, 0.973, 0.750, 0.515, and 0.805, respectively). obesity severity does not affect TSH level or the fT3/fT4 ratio in obese children and adolescents. IR is in close relationship with TSH level. Elevated TSH level is a risk factor for MS. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

  20. Characterization of chitinolytic bacteria and histological aspects of Shell Disease Syndrome in European spiny lobsters (Palinurus elephas) (Fabricius 1787).

    Science.gov (United States)

    Mancuso, M; Costanzo, M T; Maricchiolo, G; Gristina, M; Zaccone, R; Cuccu, D; Genovese, L

    2010-07-01

    The present research reports the first description of Shell Disease Syndrome in European spiny lobsters Palinurus elephas (Fabricius 1787), which occurred in an experimental aquaculture facility in Sicily (Italy). Both bacterial characterization and histopathological examination of the exoskeleton at site of lesions was carried out. Infected specimens showed tail fan erosions, and in one case uropod ulceration and complete loss of periods. Identified species included: Listonella anguillarum 50.5%, Vibrio parahaemolyticus 27.5% and Vibrio alginolyticus 22%. Microscopic evaluation of lesions indicate the presence of inflammatory responses, which include melanization and pseudomembrane formation, similar to those described for other crustaceans affected by SDS. (c) 2010 Elsevier Inc. All rights reserved.

  1. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  2. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    International Nuclear Information System (INIS)

    Mondel, Prabath Kumar; Anand, Sunanda; Limaye, Uday S.

    2015-01-01

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described

  3. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    Energy Technology Data Exchange (ETDEWEB)

    Mondel, Prabath Kumar, E-mail: prabathmondel@gmail.com; Anand, Sunanda, E-mail: sunandaanand@gmail.com; Limaye, Uday S., E-mail: uslkem@gmail.com [Lilavati Hospital and Research Centre, Department of Interventional Neuroradiology (India)

    2015-08-15

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described.

  4. Does KCNE5 play a role in long QT syndrome?

    DEFF Research Database (Denmark)

    Hofman-Bang, Jacob; Jespersen, Thomas; Grunnet, Morten

    2004-01-01

    BACKGROUND: Long QT syndrome [LQTS] is a congenital cardiac disease characterised by prolonged QTC-time, syncopes and sudden cardiac death. LQTS is caused by mutations in genes coding for ion channels involved in the action potential. KCNE5 codes for a novel beta-subunit of the ion channel conduc...

  5. Response to GH treatment in adult GH deficiency is predicted by gender, age, and IGF1 SDS but not by stimulated GH-peak

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, Ulla; Brabant, Georg; Maiter, Dominique

    2013-01-01

    We studied whether the severity of GH deficiency (GHD) defined as i) GH-peak on stimulation tests (insulin tolerance test (ITT), arginine, and glucagon), ii) number of additional pituitary deficits, or iii) baseline IGF1 SDS could impact the response to GH treatment. We further explored whether iv...

  6. Brief Report: Association Between Pregnancy Outcomes and Death From Cardiovascular Causes in Parous Women With Systemic Lupus Erythematosus: A Study Using Swedish Population Registries.

    Science.gov (United States)

    Soh, May Ching; Nelson-Piercy, Catherine; Dib, Fadia; Westgren, Magnus; McCowan, Lesley; Pasupathy, Dharmintra

    2015-09-01

    To determine if maternal placental syndromes (MPS) are associated with an increased risk of death from cardiovascular causes in women with systemic lupus erythematosus (SLE). Between 1973 and 2011, women with SLE and a history of pregnancy were identified using linked Swedish population registries. The outcome was death from primarily cardiovascular causes, defined as death from acute coronary syndrome or coronary artery disease, stroke, or peripheral vascular disease. The exposure was MPS, defined as any hypertensive disorders in pregnancy, stillbirth, placental abruption, or delivery of a small-for-gestational-age infant. The association of preterm delivery (delivery at death from cardiovascular causes was also explored. Risk of death from cardiovascular causes was determined using logistic regression, adjusting for the year of first delivery, duration of SLE, number of inpatient admissions, and cardiovascular risk factors. A total of 3,977 women with SLE had 7,410 pregnancies during the study interval. Death from primarily cardiovascular causes occurred in 44 of the 325 women who died (13.5%). The median age at death from cardiovascular causes was 54 years (interquartile range 48-58 years), and these women were more likely to have had hypertension and renal disease. MPS was associated with an increased risk of death from primarily cardiovascular causes (adjusted odds ratio [OR] 2.19 [95% confidence interval (95% CI) 1.14-4.22]), specifically, a history of placental abruption (adjusted OR 5.78 [95% CI 1.61-20.72]). Delivery at death from primarily cardiovascular causes (adjusted OR 2.49 [95% CI 1.06-5.85]). MPS in pregnancy is associated with a higher risk of death from primarily cardiovascular causes in women with SLE. © 2015, American College of Rheumatology.

  7. The death of Nicholas Bolkonski. Neurology in Tolstoy's War and Peace.

    Science.gov (United States)

    Albin, R L

    1990-02-01

    Painstaking realism is an essential feature of the fiction of Count Leo Tolstoy. One example of Tolstoy's attention to detail is the description of the death of Prince Nicholas Bolkonski in War and Peace. The information provided in War and Peace allows the identification of the prince's terminal illness as a brain-stem stroke and is probably the first description of the one-and-a-half syndrome. Prince Bolkonski is also portrayed as suffering from a dementing process. Tolstoy used the character of Prince Bolkonski to exemplify the rationalistic, Western-influenced aristocracy that dominated Russia at the end of the 18th century. Prince Bolkonski's decline and apoplectic death parallel the fate of Enlightenment thought in Eastern Europe. The clinical detail employed in this case illustrates how Tolstoy used symbolic characters without sacrificing the realism of War and Peace.

  8. Deliberating death.

    Science.gov (United States)

    Landes, Scott D

    2010-01-01

    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.

  9. Scrub Typhus Leading to Acute Encephalitis Syndrome, Assam, India.

    Science.gov (United States)

    Khan, Siraj A; Bora, Trishna; Laskar, Basanta; Khan, Abdul M; Dutta, Prafulla

    2017-01-01

    To determine the contribution of Orientia tsutsugamushi, the agent of scrub typhus, as a cause of acute encephalitis syndrome (AES) in Assam, India, we conducted a retrospective study of hospital patients with symptoms of AES during 2013-2015. Our findings suggest that O. tsutsugamushi infection leads to AES and the resulting illness and death.

  10. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Lia Crotti

    2010-02-01

    Full Text Available The Short QT Syndrome is a recently described new genetic disorder, characterized by abnormally short QT interval, paroxysmal atrial fibrillation and life threatening ventricular arrhythmias. This autosomal dominant syndrome can afflict infants, children, or young adults; often a remarkable family background of cardiac sudden death is elucidated. At electrophysiological study, short atrial and ventricular refractory periods are found, with atrial fibrillation and polymorphic ventricular tachycardia easily induced by programmed electrical stimulation. Gain of function mutations in three genes encoding K+ channels have been identified, explaining the abbreviated repolarization seen in this condition: KCNH2 for Ikr (SQT1, KCNQ1 for Iks (SQT2 and KCNJ2 for Ik1 (SQT3. The currently suggested therapeutic strategy is an ICD implantation, although many concerns exist for asymptomatic patients, especially in pediatric age. Pharmacological treatment is still under evaluation; quinidine has shown to prolong QT and reduce the inducibility of ventricular arrhythmias, but awaits additional confirmatory clinical data.

  11. Wolfram syndrome: MAMs' connection?

    Science.gov (United States)

    Delprat, Benjamin; Maurice, Tangui; Delettre, Cécile

    2018-03-06

    Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms may be identified in some but not all patients. Prognosis is poor, with death occurring around 35 years of age. To date, no treatment is available. WS was first described as a mitochondriopathy. However, the localization of the protein on the endoplasmic reticulum (ER) membrane challenged this hypothesis. ER contacts mitochondria to ensure effective Ca 2+ transfer, lipids transfer, and apoptosis within stabilized and functionalized microdomains, termed "mitochondria-associated ER membranes" (MAMs). Two types of WS are characterized so far and Wolfram syndrome type 2 is due to mutation in CISD2, a protein mostly expressed in MAMs. The aim of the present review is to collect evidences showing that WS is indeed a mitochondriopathy, with established MAM dysfunction, and thus share commonalities with several neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis, as well as metabolic diseases, such as diabetes.

  12. The Pilgaard-Dahl syndrome: laughter-induced pneumothorax - one of the many potentially detrimental consequences of laughter

    DEFF Research Database (Denmark)

    Andreasen, Dorthe Bach; El Fassi, Daniel

    2010-01-01

    In this article we propose the eponym Pilgaard-Dahl syndrome (named after two Danish revue actors). The syndrome consists of laughter-induced pneumothorax in smoking middle-aged men when exposed to hearty humour. The epidemiology and pathophysiology of spontaneous pneumothorax - in particular...... the Pilgaard-Dahl syndrome - is described. Finally, the occurrence of other detrimental effects of laughter as syncope, extreme bradycardia, asthma bouts, headache, stroke, death, and incontinence are described, as well as initiatives expected to minimise the occurrence of good mood are proposed....

  13. Strategies to Identify the Lynch Syndrome Among Patients With Colorectal Cancer

    Science.gov (United States)

    Ladabaum, Uri; Wang, Grace; Terdiman, Jonathan; Blanco, Amie; Kuppermann, Miriam; Boland, C. Richard; Ford, James; Elkin, Elena; Phillips, Kathryn A.

    2013-01-01

    Background Testing has been advocated for all persons with newly diagnosed colorectal cancer to identify families with the Lynch syndrome, an autosomal dominant cancer-predisposition syndrome that is a paradigm for personalized medicine. Objective To estimate the effectiveness and cost-effectiveness of strategies to identify the Lynch syndrome, with attention to sex, age at screening, and differential effects for probands and relatives. Design Markov model that incorporated risk for colorectal, endometrial, and ovarian cancers. Data Sources Published literature. Target Population All persons with newly diagnosed colorectal cancer and their relatives. Time Horizon Lifetime. Perspective Third-party payer. Intervention Strategies based on clinical criteria, prediction algorithms, tumor testing, or up-front germline mutation testing, followed by tailored screening and risk-reducing surgery. Outcome Measures Life-years, cancer cases and deaths, costs, and incremental cost-effectiveness ratios. Results of Base-Case Analysis The benefit of all strategies accrued primarily to relatives with a mutation associated with the Lynch syndrome, particularly women, whose life expectancy could increase by approximately 4 years with hysterectomy and salpingo-oophorectomy and adherence to colorectal cancer screening recommendations. At current rates of germline testing, screening, and prophylactic surgery, the strategies reduced deaths from colorectal cancer by 7% to 42% and deaths from endometrial and ovarian cancer by 1% to 6%. Among tumor-testing strategies, immunohistochemistry followed by BRAF mutation testing was preferred, with an incremental cost-effectiveness ratio of $36 200 per life-year gained. Results of Sensitivity Analysis The number of relatives tested per proband was a critical determinant of both effectiveness and cost-effectiveness, with testing of 3 to 4 relatives required for most strategies to meet a threshold of $50 000 per life-year gained. Immunohistochemistry

  14. In Silico Syndrome Prediction for Coronary Artery Disease in Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Peng Lu

    2012-01-01

    Full Text Available Coronary artery disease (CAD is the leading causes of deaths in the world. The differentiation of syndrome (ZHENG is the criterion of diagnosis and therapeutic in TCM. Therefore, syndrome prediction in silico can be improving the performance of treatment. In this paper, we present a Bayesian network framework to construct a high-confidence syndrome predictor based on the optimum subset, that is, collected by Support Vector Machine (SVM feature selection. Syndrome of CAD can be divided into asthenia and sthenia syndromes. According to the hierarchical characteristics of syndrome, we firstly label every case three types of syndrome (asthenia, sthenia, or both to solve several syndromes with some patients. On basis of the three syndromes’ classes, we design SVM feature selection to achieve the optimum symptom subset and compare this subset with Markov blanket feature select using ROC. Using this subset, the six predictors of CAD’s syndrome are constructed by the Bayesian network technique. We also design Naïve Bayes, C4.5 Logistic, Radial basis function (RBF network compared with Bayesian network. In a conclusion, the Bayesian network method based on the optimum symptoms shows a practical method to predict six syndromes of CAD in TCM.

  15. Investigation of the Fusarium virguliforme Transcriptomes Induced during Infection of Soybean Roots Suggests that Enzymes with Hydrolytic Activities Could Play a Major Role in Root Necrosis.

    Science.gov (United States)

    Sahu, Binod B; Baumbach, Jordan L; Singh, Prashant; Srivastava, Subodh K; Yi, Xiaoping; Bhattacharyya, Madan K

    2017-01-01

    Sudden death syndrome (SDS) is caused by the fungal pathogen, Fusarium virguliforme, and is a major threat to soybean production in North America. There are two major components of this disease: (i) root necrosis and (ii) foliar SDS. Root symptoms consist of root necrosis with vascular discoloration. Foliar SDS is characterized by interveinal chlorosis and leaf necrosis, and in severe cases by flower and pod abscission. A major toxin involved in initiating foliar SDS has been identified. Nothing is known about how root necrosis develops. In order to unravel the mechanisms used by the pathogen to cause root necrosis, the transcriptome of the pathogen in infected soybean root tissues of a susceptible cultivar, 'Essex', was investigated. The transcriptomes of the germinating conidia and mycelia were also examined. Of the 14,845 predicted F. virguliforme genes, we observed that 12,017 (81%) were expressed in germinating conidia and 12,208 (82%) in mycelia and 10,626 (72%) in infected soybean roots. Of the 10,626 genes induced in infected roots, 224 were transcribed only following infection. Expression of several infection-induced genes encoding enzymes with oxidation-reduction properties suggests that degradation of antimicrobial compounds such as the phytoalexin, glyceollin, could be important in early stages of the root tissue infection. Enzymes with hydrolytic and catalytic activities could play an important role in establishing the necrotrophic phase. The expression of a large number of genes encoding enzymes with catalytic and hydrolytic activities during the late infection stages suggests that cell wall degradation could be involved in root necrosis and the establishment of the necrotrophic phase in this pathogen.

  16. Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.

    Science.gov (United States)

    Elçioglu, N H; Akalin, F; Elçioglu, M; Comeglio, P; Child, A H

    2004-01-01

    Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene: We describe a male infant with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, microretrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and lens dislocations. Cardiac valve insufficiency and aortic dilatation resulted in cardiac failure, decompensated with digitalisation and death occurred at the age of 4 months. This case represents the severe end of the clinical spectrum of Marfan syndrome, namely neonatal Marfan syndrome. Molecular diagnostic analyses confirmed a de novo exon 25 mutation in the FBN1 gene.

  17. Causes and timing of death in extremely premature infants from 2000 through 2011.

    Science.gov (United States)

    Patel, Ravi M; Kandefer, Sarah; Walsh, Michele C; Bell, Edward F; Carlo, Waldemar A; Laptook, Abbot R; Sánchez, Pablo J; Shankaran, Seetha; Van Meurs, Krisa P; Ball, M Bethany; Hale, Ellen C; Newman, Nancy S; Das, Abhik; Higgins, Rosemary D; Stoll, Barbara J

    2015-01-22

    Understanding the causes and timing of death in extremely premature infants may guide research efforts and inform the counseling of families. We analyzed prospectively collected data on 6075 deaths among 22,248 live births, with gestational ages of 22 0/7 to 28 6/7 weeks, among infants born in study hospitals within the National Institute of Child Health and Human Development Neonatal Research Network. We compared overall and cause-specific in-hospital mortality across three periods from 2000 through 2011, with adjustment for baseline differences. The number of deaths per 1000 live births was 275 (95% confidence interval [CI], 264 to 285) from 2000 through 2003 and 285 (95% CI, 275 to 295) from 2004 through 2007; the number decreased to 258 (95% CI, 248 to 268) in the 2008-2011 period (P=0.003 for the comparison across three periods). There were fewer pulmonary-related deaths attributed to the respiratory distress syndrome and bronchopulmonary dysplasia in 2008-2011 than in 2000-2003 and 2004-2007 (68 [95% CI, 63 to 74] vs. 83 [95% CI, 77 to 90] and 84 [95% CI, 78 to 90] per 1000 live births, respectively; P=0.002). Similarly, in 2008-2011, as compared with 2000-2003, there were decreases in deaths attributed to immaturity (P=0.05) and deaths complicated by infection (P=0.04) or central nervous system injury (Pbirth, and 17.3% occurred after 28 days. We found that from 2000 through 2011, overall mortality declined among extremely premature infants. Deaths related to pulmonary causes, immaturity, infection, and central nervous system injury decreased, while necrotizing enterocolitis-related deaths increased. (Funded by the National Institutes of Health.).

  18. Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-.

    Science.gov (United States)

    Choi, Joon Woo; Kim, Eun-Ju; Min, Byung Woo; Ban, Jong Seouk; Lee, Sang Gon; Lee, Ji-Hyang

    2012-02-01

    Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experienced desaturation and bronchospasm during arteriovenous fistula surgery in an obese adult with Prader-Willi syndrome.

  19. Occurrence of refeeding syndrome in adults started on artificial nutrition support: prospective cohort study.

    Science.gov (United States)

    Rio, Alan; Whelan, Kevin; Goff, Louise; Reidlinger, Dianne Patricia; Smeeton, Nigel

    2013-01-11

    , acute circulatory fluid overload and disturbance to organ function following artificial nutrition support and were diagnosed with refeeding syndrome. There were no deaths attributable to the refeeding syndrome, but (5.3% 13/243) participants died during the feeding period and (28% 68/243) died during hospital admission. Death of these participants was due to cerebrovascular accident, traumatic injury, respiratory failure, organ failure or end-of-life causes. Refeeding syndrome was a rare, survivable phenomenon that occurred during hypocaloric nutrition support in participants identified at risk. Independent predictors for refeeding syndrome were starvation and baseline low-serum magnesium concentration. Intravenous carbohydrate infusion prior to artificial nutrition support may have precipitated the onset of the syndrome.

  20. Preferences of Patients for Discussing Sudden Unexpected Death in Epilepsy

    Directory of Open Access Journals (Sweden)

    Sūna Normunds

    2017-08-01

    Full Text Available People with epilepsy have increased mortality rates, which is partially attributed to sudden unexpected death in epilepsy syndrome (SUDEP. Poor seizure control appears to be the strongest SUDEP risk factor. Management of epilepsy and adherence to therapy is critical to seizure control. The belief by caregivers of negative influence caused by being informed about the syndrome is the main reason SUDEP is not disclosed. There are no clear recommendations when to disclose the risk of SUDEP and how much information should be provided. We addressed the preferences of Latvian epilepsy patients for discussing SUDEP as well as awareness of the syndrome. Our study involved 55 epilepsy patients. We found that, as in other studies, our patients were relatively well informed about SUDEP. We found that a considerable proportion of patients preferred to receive information about SUDEP from a general practitioner. We note the belief of patients that the disclosure of SUDEP would either improve or have no effect on the quality of life. We were able to identify groups of patients with a self-reported belief of more frequent expected anxiety and poor adherence to medical treatment. Our data improves the understanding of preferences of patient for discussing the negative aspects of epilepsy.