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Sample records for adh1a variation predisposes

  1. An Evaluation of Factors Predisposing Building Elements to Variation in Nigeria

    Babatunde, S.O.

    2013-01-01

    Full Text Available The construction industry has been consistently criticized for poor performance in attaining clients’ requirements. The study, thus, assessed the factors predisposing building elements to variation with a view to providing cost-design information that enhance construction project delivery, that is, on-time completion of project within budget. The building elements considered in this study include substructure, frame, upper floors, and roof. Data were collected using well-structured questionnaires administered on professionals in consulting firms, contracting firms, and client organizations in Lagos metropolis. Data analysis was done using descriptive and inferential statistics. The results of the analysis revealed nine factors through factor analysis that predispose substructure to variation, seven factors predispose frame, six factors predispose upper floors, and seven factors predispose roofs to variation during construction process in Nigeria.

  2. Variation in Telangiectasia Predisposing Genes Is Associated With Overall Radiation Toxicity

    Tanteles, George A. [Department of Genetics, University of Leicester, Leicester (United Kingdom); Department of Cancer Studies and Molecular Medicine, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester (United Kingdom); Murray, Robert J.S. [Department of Genetics, University of Leicester, Leicester (United Kingdom); Mills, Jamie [Department of Cancer Studies and Molecular Medicine, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester (United Kingdom); Barwell, Julian [Department of Genetics, University of Leicester, Leicester (United Kingdom); Department of Cancer Studies and Molecular Medicine, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester (United Kingdom); Chakraborti, Prabir [Department of Clinical Oncology, Derby Hospitals NHS Foundation Trust, Derby (United Kingdom); Chan, Steve [Department of Clinical Oncology, Nottingham University Hospitals NHS Trust, Nottingham (United Kingdom); Cheung, Kwok-Leung [Division of Breast Surgery, University of Nottingham, Nottingham (United Kingdom); Ennis, Dawn [Department of Clinical Oncology, Derby Hospitals NHS Foundation Trust, Derby (United Kingdom); Khurshid, Nazish [Department of Genetics, University of Leicester, Leicester (United Kingdom); Lambert, Kelly [Department of Breast Surgery, University Hospitals of Leicester, Glenfield Hospital, Leicester (United Kingdom); Machhar, Rohan; Meisuria, Mitul [Department of Genetics, University of Leicester, Leicester (United Kingdom); Osman, Ahmed; Peat, Irene [Department of Cancer Studies and Molecular Medicine, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester (United Kingdom); Sahota, Harjinder [Department of Genetics, University of Leicester, Leicester (United Kingdom); Woodings, Pamela [Department of Clinical Oncology, Derby Hospitals NHS Foundation Trust, Derby (United Kingdom); Talbot, Christopher J., E-mail: cjt14@le.ac.uk [Department of Genetics, University of Leicester, Leicester (United Kingdom); and others

    2012-11-15

    Purpose: In patients receiving radiotherapy for breast cancer where the heart is within the radiation field, cutaneous telangiectasiae could be a marker of potential radiation-induced heart disease. We hypothesized that single nucleotide polymorphisms (SNPs) in genes known to cause heritable telangiectasia-associated disorders could predispose to such late, normal tissue vascular damage. Methods and Materials: The relationship between cutaneous telangiectasia as a late normal tissue radiation injury phenotype in 633 breast cancer patients treated with radiotherapy was examined. Patients were clinically assessed for the presence of cutaneous telangiectasia and genotyped at nine SNPs in three candidate genes. Candidate SNPs were within the endoglin (ENG) and activin A receptor, type II-like 1 (ACVRL1) genes, mutations in which cause hereditary hemorrhagic telangiectasia and the ataxia-telangiectasia mutated (ATM) gene associated with ataxia-telangiectasia. Results: A total of 121 (19.1%) patients exhibited a degree of cutaneous telangiectasiae on clinical examination. Regression was used to examine the associations between the presence of telangiectasiae in patients who underwent breast-conserving surgery, controlling for the effects of boost and known brassiere size (n=388), and individual geno- or haplotypes. Inheritance of ACVRL1 SNPs marginally contributed to the risk of cutaneous telangiectasiae. Haplotypic analysis revealed a stronger association between inheritance of a ATM haplotype and the presence of cutaneous telangiectasiae, fibrosis and overall toxicity. No significant association was observed between telangiectasiae and the coinheritance of the candidate ENG SNPs. Conclusions: Genetic variation in the ATM gene influences reaction to radiotherapy through both vascular damage and increased fibrosis. The predisposing variation in the ATM gene will need to be better defined to optimize it as a predictive marker for assessing radiotherapy late effects.

  3. Waste predisposal management

    All Member States have to a large or small extent nuclear activities that generate radioactive wastes. Hospitals, research in biomedicine or in agriculture, and some industrial applications, beside other large nuclear activities such as Nuclear Power Plants and Nuclear Research, generate unconditioned liquid or solid radioactive wastes that have to be treated, conditioned and stored prior final disposal. Countries with small nuclear activities require of organizations and infrastructure as to be able to manage, in a safe manner, the wastes that they generate. Predisposal management of radioactive waste is any step carried out to convert raw waste into a stable form suitable for the safe disposal, such as pre-treatment, treatment, storage and relevant transport. Transport of radioactive waste do not differ, in general, from other radioactive material and so are not considered within the scope of this fact sheet (Nevertheless the Agency, within the Nuclear Safety Department, has created a special Unit that might give advise Member States in this area). Predisposal management is comprised of a set of activities whose implementation may take some time. In most of the cases, safety issues and strategic and economical considerations have to be solved prior the main decisions are taken. The International Atomic Energy Agency provides assistance for the management of radioactive waste at national and operating level, in the definition and/or implementation of the projects. The services could include, but are not limited to guidance in the definition of national waste management strategy and its implementation, definition of the most adequate equipment and practices taking into account specific Member State conditions, as well as assisting in the procurement, technical expertise for the evaluation of current status of operating facilities and practical guidance for the implementation of corrective actions, assistance in the definition of waste acceptance criteria for

  4. Emphysematous pancreatitis predisposed by Olanzapine

    Sukhen Samanta

    2014-01-01

    Full Text Available A 32-year-old male presented to our intensive care unit with severe abdominal pain and was diagnosed as acute pancreatitis after 2 months of olanzapine therapy for bipolar disorder. His serum lipase was 900 u/L, serum triglyceride 560 mg/dL, and blood sugar, fasting and postprandial were 230 and 478 mg/dL, respectively on admission. Contrast enhanced computed tomography (CECT of abdomen was suggestive of acute pancreatitis. Repeat CECT showed gas inside pancreas and collection in peripancreatic area and patient underwent percutaneous drainage and antibiotics irrigation through the drain into pancreas. We describe the rare case of emphysematous pancreatitis due to development of diabetes, hypertriglyceridemia and immunosuppression predisposed by short duration olanzapine therapy.

  5. Predisposal management of high level radioactive waste

    The objective of this safety guide is to provide guidance on predisposal management of high-level radioactive waste to meet the safety requirements spelt out in the safety code on 'management of radioactive waste'. This safety guide provides recommendations to the waste generator/manager at various stages in the predisposal management of high level radioactive waste for ensuring safety of the occupational workers, public and the environment

  6. What aspects of autism predispose to talent?

    Happé, Francesca; Vital, Pedro

    2009-01-01

    In this paper, we explore the question, why are striking special skills so much more common in autism spectrum conditions (ASC) than in other groups? Current cognitive accounts of ASC are briefly reviewed in relation to special skills. Difficulties in ‘theory of mind’ may contribute to originality in ASC, since individuals who do not automatically ‘read other minds’ may be better able to think outside prevailing fashions and popular theories. However, originality alone does not confer talent. Executive dysfunction has been suggested as the ‘releasing’ mechanism for special skills in ASC, but other groups with executive difficulties do not show raised incidence of talents. Detail-focused processing bias (‘weak coherence’, ‘enhanced perceptual functioning’) appears to be the most promising predisposing characteristic, or ‘starting engine’, for talent development. In support of this notion, we summarize data from a population-based twin study in which parents reported on their 8-year-olds' talents and their ASC-like traits. Across the whole sample, ASC-like traits, and specifically ‘restricted and repetitive behaviours and interests’ related to detail focus, were more pronounced in children reported to have talents outstripping older children. We suggest that detail-focused cognitive style predisposes to talent in savant domains in, and beyond, autism spectrum disorders. PMID:19528019

  7. Recent developments in brain tumor predisposing syndromes.

    Johansson, Gunnar; Andersson, Ulrika; Melin, Beatrice

    2016-01-01

    The etiologies of brain tumors are in the most cases unknown, but improvements in genetics and DNA screening have helped to identify a wide range of brain tumor predisposition disorders. In this review we are discussing some of the most common predisposition disorders, namely: neurofibromatosis type 1 and 2, schwannomatosis, rhabdoid tumor predisposition disorder, nevoid basal cell carcinoma syndrome (Gorlin), tuberous sclerosis complex, von Hippel-Lindau, Li-Fraumeni and Turcot syndromes. Recent findings from the GLIOGENE collaboration and the newly identified glioma causing gene POT1, will also be discussed. Genetics. We will describe these disorders from a genetic and clinical standpoint, focusing on the difference in clinical symptoms depending on the underlying gene or germline mutation. Central nervous system (CNS) tumors. Most of these disorders predispose the carriers to a wide range of symptoms. Herein, we will focus particularly on tumors affecting the CNS and discuss improvements of targeted therapy for the particular disorders. PMID:26634384

  8. [Depression in schizophrenia: diagnosis, epidemiology, predisposing factors].

    Stamouli, S

    2010-01-01

    the time and stabilizes around 8% in remitted patients. These frequencies may vary upwards depending on the definition of depression. One in four schizophrenic patients with depression presents with suicide ideation and therefore requires appropriate identification and management. As far as predisposing factors for the appearance of depression concerns, the existing data are inadequate and contradictory to extract safe conclusions and therefore further research is in line. PMID:22214874

  9. Predisposal management of radioactive waste. General safety requirements. Pt. 5

    The objective of this Safety Requirements publication is to establish, the requirements that must be satisfied in the predisposal management of radioactive waste. This publication sets out the objectives, criteria and requirements for the protection of human health and the environment that apply to the siting, design, construction, commissioning, operation and shutdown of facilities for the predisposal management of radioactive waste, and the requirements that must be met to ensure the safety of such facilities and activities. This Safety Requirements publication applies to the predisposal management of radioactive waste of all types and covers all the steps in its management from its generation up to its disposal, including its processing (pretreatment, treatment and conditioning), storage and transport. Such waste may arise from the commissioning, operation and decommissioning of nuclear facilities; the use of radionuclides in medicine, industry, agriculture, research and education; the processing of materials that contain naturally occurring radionuclides; and the remediation of contaminated areas. The introduction of the document (Section 1) informs about its objective, scope and structure. The protection of human health and the environment is considered in Section 2 of this publication. Section 3 establishes requirements for the responsibilities associated with the predisposal management of radioactive waste. Requirements for the principal approaches to and the elements of the predisposal management of radioactive waste are established in Section 4. Section 5 establishes requirements for the safe development and operation of predisposal radioactive waste management facilities and safe conduct of activities. The Annex presents a discussion of the consistency of the safety requirements established in this publication with the fundamental safety principles

  10. POLE mutations in families predisposed to cutaneous melanoma

    Aoude, Lauren G; Heitzer, Ellen; Johansson, Peter;

    2015-01-01

    Germline mutations in the exonuclease domain of POLE have been shown to predispose to colorectal cancers and adenomas. POLE is an enzyme involved in DNA repair and chromosomal DNA replication. In order to assess whether such mutations might also predispose to cutaneous melanoma, we interrogated w...... melanoma. In addition, we found the first mutation outside the exonuclease domain, p.(Gln520Arg), in a family with an extensive history of colorectal cancer.......Germline mutations in the exonuclease domain of POLE have been shown to predispose to colorectal cancers and adenomas. POLE is an enzyme involved in DNA repair and chromosomal DNA replication. In order to assess whether such mutations might also predispose to cutaneous melanoma, we interrogated...... whole-genome and exome data from probands of 34 melanoma families lacking pathogenic mutations in known high penetrance melanoma susceptibility genes: CDKN2A, CDK4, BAP1, TERT, POT1, ACD and TERF2IP. We found a novel germline mutation, POLE p.(Trp347Cys), in a 7-case cutaneous melanoma family...

  11. Varus Gonarthrosis Predisposes to Varus Malalignment in TKA

    Heyse, Thomas J.; Decking, Ralf; Davis, Jack; Boettner, Friedrich; Laskin, Richard S.

    2009-01-01

    Postoperative alignment is a predictor for long-term survival of total knee arthroplasty (TKA). The purpose of this study was to evaluate whether or not preoperative deformities predispose to intraoperative malposition of TKA components. A retrospective radiographic analysis of 53 primary TKA cases was performed. Preoperative AP hip to ankle and lateral knee radiographs were compared with postoperative views to evaluate component positioning. The following angles were measured: the hip–knee–a...

  12. Sleep Deprivation Predisposes Gujarati Indian Adolescents to Obesity

    Shaikh Wasim; Patel Minal; Singh S

    2009-01-01

    Background and Aim: Recent studies on various populations indicate that lack of sleep is one of the potential risk factors predisposing the youth to obesity. Since there is a significant rise in obesity among Indian youth and because research indicating the role of sleep in development of obesity among Indian population is scant, the current study was undertaken to assess the effect of sleep duration on adiposity among Gujarati Indian adolescents. Materials and Methods: A randomized cross-...

  13. Factors predisposing to a complicated initial febrile convulsion.

    Wallace, S J

    1975-01-01

    131 consecutive admissions to hospital for a first febrile convulsion were studied to find which factors predisposed to a complicated fit--defined as one lasting more than 30 minutes, unilateral, or repeated within the same illness. A significant excess of complicated attacks occurred where the age of onset was less than 16 months, where both family history of convulsive disorder and perinatal abnormality were present, and, in females only, where it was suspected that neurological disorder preceded the first fit. PMID:1220608

  14. Population testing for cancer predisposing BRCA1/BRCA2 mutations

    Wardle, J

    2014-01-01

    Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages. We directly compared the psychological/quality-of-life consequences of such an approach to family history (FH)–based testing. Methods: In a randomized controlled trial of BRCA1/2 gene-mutation testing in the Ashkenazi Jewish (AJ) population, we compared testing all participants in the...

  15. Ankle sprain: pathophysiology, predisposing factors, and management strategies

    Hubbard, Tricia J.; Wikstrom, Erik A.

    2010-01-01

    Tricia J Hubbard, Erik A WikstromUNC Charlotte, Department of Kinesiology, CharlotteAbstract: With the high percentage (up to 75%) of initial lateral ankle sprains (LAS) leading to repetitive sprains and chronic symptoms, it is imperative to better understand how best to treat and rehabilitate LAS events. The purpose of this paper is to review LAS pathophysiology, predisposing factors, and the current evidence regarding therapeutic modalities and exercises used in the treatment of LAS. Functi...

  16. Predisposal management of high level radioactive waste. Safety guide

    Radioactive waste is generated in the generation of electricity in nuclear power plants and in the use of radioactive material in industry, research and medicine. The importance of the safe management of radioactive waste for the protection of human health and the environment has long been recognized. The principles and requirements that govern the safety of the management of radioactive waste are presented in 'The Principles of Radioactive Waste Management', 'Legal and Governmental Infrastructure for Nuclear, Radiation, Radioactive Waste and Transport Safety' and 'Predisposal Management of Radioactive Waste, Including Decommissioning'. The objective of this Safety Guide is to provide regulatory bodies and the operators that generate and manage radioactive waste with recommendations on how to meet the principles and requirements established in Refs for the predisposal management of HLW. This Safety Guide applies to the predisposal management of HLW. For liquid HLW arising from the reprocessing of spent fuel the recommendations of this Safety Guide apply from when liquid waste from the first extraction process is collected for storage and subsequent processing. Recommendations and guidance on the storage of spent fuel, whether or not declared as waste, subsequent to its removal from the storage facility of a reactor are provided in Refs. For spent fuel declared as waste this Safety Guide applies to all activities subsequent to its removal from the storage facility of a reactor and prior to its disposal. Requirements pertaining to the transport of spent fuel, whether or not declared as waste, and of all forms of HLW are established. This Safety Guide provides recommendations on the safety aspects of managing HLW, including the planning, design, construction, commissioning, operation and decommissioning of equipment or facilities for the predisposal management of HLW. It addresses the following elements: (a) The characterization and processing (i.e. pretreatment

  17. Anatomic Factors that May Predispose Female Athletes to Anterior Cruciate Ligament Injury.

    Cheung, Edward C; Boguszewski, Daniel V; Joshi, Nirav B; Wang, Dean; McAllister, David R

    2015-01-01

    Female athletes are 2 to 10 times more likely to injure their anterior cruciate ligaments (ACL) than male athletes. There has been greater recognition of this gender discrepancy because female participation in competitive athletics has increased. Previous investigators have divided risk factors into hormonal, neuromuscular response, and anatomic subgroups. Gender variation within these groups may help explain the higher incidence of ACL injury in women. The purpose of this article is to review research examining female-specific anatomy that may predispose women to ACL injury. Specifically, we discuss how women may have increased tibial and meniscal slopes, narrower femoral notches, and smaller ACL, which may place the ACL at risk from injury. These anatomic factors, combined with other female-specific risk factors, may help physicians and researchers better understand why women appear to be more prone to ACL injury. PMID:26359837

  18. Timing of predisposing factors is important in necrotic enteritis models.

    Van Waeyenberghe, Lieven; De Gussem, Maarten; Verbeke, Joren; Dewaele, Isabelle; De Gussem, Jeroen

    2016-06-01

    Since the ban of antimicrobial growth promotors, the importance of necrotic enteritis in broilers increases. Reliable and reproducible infection models are required for pathogenesis studies and product screening. Two major predisposing factors in necrotic enteritis models are fishmeal supplementation to feed and Eimeria infection. However, many unsolved issues regarding these predisposing factors still exist. Therefore, the influence of timepoint of fishmeal administration (onset on day 8 or day 18), timing of coccidiosis challenge (day 15 or day 19) and strain of coccidiosis challenge (field strain vs. commercial vaccine) on the induction of necrotic enteritis lesions was investigated. The birds were inoculated with Clostridium perfringens three times per day for four consecutive days (day 17 until day 20) and were scored for the presence of necrotic enteritis on days 22, 23, 24, 25 and 26. Supplementation of the diet with fishmeal from day 8 onwards increased the likelihood of necrotic enteritis compared to supplementation from day 18 onwards. Birds challenged on day 19 with coccidiosis were more likely to have necrotic enteritis on scoring days 23 and 24 compared to birds challenged on day 15. Differences on other scoring days were less pronounced. Finally, the strain of coccidiosis challenge had little influence on the induction of necrotic enteritis. Findings of this study can help researchers to set up successful necrotic enteritis infection models. PMID:26927291

  19. Subclinical Mastitis in Dairy Animals: Incidence, Economics, and Predisposing Factors

    Mukesh Kr. Sinha

    2014-01-01

    Full Text Available A study was conducted to assess the incidence and economics of subclinical form of bovine mastitis in Central Region of India. Daily milk records of 187 animals during three seasons were collected and subjected to analysis. The economic loss due to reduction in yield, clinical expenses, and additional resources used were quantified and aggregated. The losses due to mastitis in monetary terms were estimated to be INR1390 per lactation, among which around 49% was owing to loss of value from milk and 37% on account of veterinary expenses. Higher losses were observed in crossbred cows due to their high production potential that was affected during mastitis period. The cost of treating an animal was estimated to be INR509 which includes cost of medicine (31.10% and services (5.47%. Inadequate sanitation, hygiene, and veterinary services were the main predisposing factors for incidence and spread of mastitis as perceived by the respondents.

  20. The prevalence of predisposing deformity in osteoarthritic hip joints

    Klit, Jakob; Gosvig, Kasper; Jacobsen, Steffen; Sonne-Holm, Stig; Troelsen, Anders

    2011-01-01

    population-based database of 4151 individuals, all of whom had a standard anteroposterior weight-bearing pelvic radiograph taken. Hip joints were classified according to type and degree of deformity. We defined hip osteoarthritis by a minimum joint space width of predisposing hip deformities in...... females of 62.4% and in males of 78.9%. Minor and major deformities showed the same prevalence. Both sexes had a comparable prevalence of minor and major hip joint deformity, except for pistol grip deformity, which was more prevalent in men. We concluded that 'idiopathic osteoarthritis' is uncommon, and...

  1. Predisposing factors of restless legs syndrome in pregnancy.

    Tunç, Tuğba; Karadağ, Yeşim Sücüllü; Doğulu, Funda; Inan, Levent E

    2007-04-15

    The occurrence of restless legs syndrome in pregnancy is well known. However, the mechanism of this association is unclear. In this study, we aimed to identify the factors that predispose women to have restless legs syndrome during pregnancy. A total of 146 pregnant women were included in the study. Patients were asked questions regarding demographic characteristics, complications of pregnancy, medical therapy (vitamin and iron intake), sleep disorders, muscle cramps, and excessive daytime sleepiness. Electroneurography, routine blood biochemistry tests, complete blood count, and thyroid function tests were performed and vitamin B12, folic acid, serum iron, iron-binding capacity, ferritin, iron saturation, prolactin, estradiol, and progesterone were measured. Of the participants, 38 were diagnosed as having restless legs syndrome. In women with restless legs syndrome, additional medical problems, night cramps, and excessive daytime sleepiness were more frequent. In women without restless legs syndrome, serum hemoglobin levels were significantly higher and the use of supplemental iron or vitamins was greater. Among the women with restless legs syndrome, progesterone levels were slightly higher but this difference was not statistically significant. In summary, in this study, lower hemoglobin levels and supplementation deficits of iron and vitamins were found be the risk factors for restless legs syndrome in pregnancy. PMID:17285614

  2. A functional variant in ERAP1 predisposes to multiple sclerosis.

    Franca Rosa Guerini

    Full Text Available The ERAP1 gene encodes an aminopeptidase involved in antigen processing. A functional polymorphism in the gene (rs30187, Arg528Lys associates with susceptibility to ankylosying spondylitis (AS, whereas a SNP in the interacting ERAP2 gene increases susceptibility to another inflammatory autoimmune disorder, Crohn's disease (CD. We analysed rs30187 in 572 Italian patients with CD and in 517 subjects suffering from multiple sclerosis (MS; for each cohort, an independent sex- and age-matched control group was genotyped. The frequency of the 528Arg allele was significantly higher in both disease cohorts compared to the respective control population (for CD, OR = 1.20 95%CI: 1.01-1.43, p = 0.036; for RRMS, OR = 1.26; 95%CI: 1.04-1.51, p = 0.01. Meta-analysis with the Wellcome Trust Cases Control Consortium GWAS data confirmed the association with MS (p(meta = 0.005, but not with CD. In AS, the rs30187 variant has a predisposing effect only in an HLA-B27 allelic background. It remains to be evaluated whether interaction between ERAP1 and distinct HLA class I alleles also affects the predisposition to MS, and explains the failure to provide definitive evidence for a role of rs30187 in CD. Results herein support the emerging concept that a subset of master-regulatory genes underlay the pathogenesis of autoimmunity.

  3. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

    Kuang, Shao-Qing; Medina-Martinez, Olga; Guo, Dong-chuan; Gong, Limin; Regalado, Ellen S.; Reynolds, Corey L.; Boileau, Catherine; Jondeau, Guillaume; Prakash, Siddharth K.; Kwartler, Callie S.; Zhu, Lawrence Yang; Peters, Andrew M.; Duan, Xue-Yan; Bamshad, Michael J.; Shendure, Jay; Nickerson, Debbie A.; Santos-Cortez, Regie L.; Dong, Xiurong; Leal, Suzanne M.; Majesky, Mark W.; Swindell, Eric C.; Jamrich, Milan; Milewicz, Dianna M.

    2016-01-01

    The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs) occur as a result of genetically triggered defects in aortic structure and a dysfunctional response to these forces. Here, we describe mutations in the forkhead transcription factor FOXE3 that predispose mutation-bearing individuals to TAAD. We performed exome sequencing of a large family with multiple members with TAADs and identified a rare variant in FOXE3 with an altered amino acid in the DNA-binding domain (p.Asp153His) that segregated with disease in this family. Additional pathogenic FOXE3 variants were identified in unrelated TAAD families. In mice, Foxe3 deficiency reduced smooth muscle cell (SMC) density and impaired SMC differentiation in the ascending aorta. Foxe3 expression was induced in aortic SMCs after transverse aortic constriction, and Foxe3 deficiency increased SMC apoptosis and ascending aortic rupture with increased aortic pressure. These phenotypes were rescued by inhibiting p53 activity, either by administration of a p53 inhibitor (pifithrin-α), or by crossing Foxe3–/– mice with p53–/– mice. Our data demonstrate that FOXE3 mutations lead to a reduced number of aortic SMCs during development and increased SMC apoptosis in the ascending aorta in response to increased biomechanical forces, thus defining an additional molecular pathway that leads to familial thoracic aortic disease. PMID:26854927

  4. Sleep deprivation predisposes Gujarati Indian adolescents to obesity

    Shaikh Wasim

    2009-01-01

    Full Text Available Background and Aim: Recent studies on various populations indicate that lack of sleep is one of the potential risk factors predisposing the youth to obesity. Since there is a significant rise in obesity among Indian youth and because research indicating the role of sleep in development of obesity among Indian population is scant, the current study was undertaken to assess the effect of sleep duration on adiposity among Gujarati Indian adolescents. Materials and Methods: A randomized cross-sectional study was done on 489 voluntarily participating Indian adolescents in the age group of 16-19 years. Participants were grouped into two categories 1. Adequate Sleep Duration at Night (more than seven hours, ASDN and 2 Inadequate Sleep Duration at Night (less than seven hours, IASDN as reported by the participants. The participants were later assessed for adiposity in terms of BMI, BF % , FM, FMI and waist circumference, meal frequency per day and physical activity status. Results: In both boys as well as girls, the BMI, BF%, FM and FMI were significantly lower in the ASDN group than the IASDN group. However, there was an insignificant difference in the meal frequency and physical activity status between the ASDN and IASDN group. Conclusion : Inadequate sleep duration increases adiposity among Gujarati Indian adolescents but further studies are required to find out the mechanisms through which sleep affects adiposity in this population.

  5. Ankle sprain: pathophysiology, predisposing factors, and management strategies

    Tricia J Hubbard

    2010-07-01

    Full Text Available Tricia J Hubbard, Erik A WikstromUNC Charlotte, Department of Kinesiology, CharlotteAbstract: With the high percentage (up to 75% of initial lateral ankle sprains (LAS leading to repetitive sprains and chronic symptoms, it is imperative to better understand how best to treat and rehabilitate LAS events. The purpose of this paper is to review LAS pathophysiology, predisposing factors, and the current evidence regarding therapeutic modalities and exercises used in the treatment of LAS. Functional rehabilitation, early mobilization with support, is the current standard of care for LAS. However, the high percentage of reinjury occurrence and development of chronic symptoms (up to 75% after a LAS, suggests the current standard of care may not be effective. Recent evidence has shown the need for more stringent immobilization to facilitate ligament healing and restoration of joint stability and function after a LAS. Additionally, the importance of adding adjunctive therapies, specifically joint mobilizations and balance training have been shown to improve function and decrease the incidence of reinjury after a LAS. Modifying current rehabilitation protocols to include protecting the ankle joint with stringent immobilization, and including joint mobilizations and balance training may be the first step to decreasing the incidence of short and long term ankle joint dysfunction.Keywords: rehabilitation, recurrent sprains, chronic ankle instability (CAI

  6. Allelic variation in CRHR1 predisposes to panic disorder : evidence for biased fear processing

    Weber, Heike; Richter, Jan; Straube, Benjamin; Lueken, Ulrike; Domschke, Katharina; Schartner, Christoph; Klauke, Benedikt; Baumann, Christian; Pané-Farré, Christiane; Jacob, Christian P; Scholz, Claus-Jürgen; Zwanger, Peter; Lang, Thomas; Fehm, Lydia; Jansen, Andreas

    2015-01-01

    This work is part of the German multicenter trial ‘Mechanisms of Action in CBT (MAC)’. The MAC study is funded by the German Federal Ministry of Education and Research (BMBF; project no. 01GV0615) as part of the BMBF Psychotherapy Research Funding Initiative. The study was further supported by the DFG (Grant RE1632/5-1 and KFO 125 to AR; SFB TRR 58 Z02 to JD, PP and AR; C02 to JD and KD; DE357/4-1 to JD, AR, JR and AH; RTG 1256 to AR, JD and PP; IZKF-Würzburg Z-6 to HW).

  7. Mineral deficiency predisposes occurrence of retention of placenta in crossbred

    S. K. Sheetal

    2014-12-01

    Full Text Available Aim: The present study was carried out to investigate the relationship between blood serum concentrations of macro and micro minerals and development of retention of placenta (ROP in crossbred cattle. Materials and Methods: The present study was carried out at Instructional Livestock Farm, Bihar Veterinary College and local Khatals in and around Patna. A total of 20 crossbred cattle (n=10 with normal expulsion of the placenta as control and n=10 with ROP were selected in the present study. Blood samples were collected from these animals and serum was separated and stored in the deep freezer at −20°C till further analysis. The estimation of serum macro-minerals (Ca, P, Ca/P ratio was done by Span diagnostic Kits (Surat, India and trace minerals or micro-minerals (Zn, Cu, and Fe were analyzed by atomic absorption spectrophotometer (Perkin Elmer AAS 220. Mean values were compared between both the groups at 0 h (at parturition and 12 h after parturition. Results: The mean values of serum calcium and zinc were found significantly lower in cattle having ROP than control at both 0 h and 12 h after parturition. The mean values of serum Ca and P ratio obtained at 0 hour were significantly lower in ROP groups as compared to control groups and non-significant at 12 h. The mean values of serum inorganic phosphorus, copper and iron was found non-significantly lower in ROP cases as compared to control. Conclusions: Macro and micro mineral deficiency such as calcium, iron, zinc and copper in blood serum may be predisposing factor for the occurrence of retention of placenta in crossbred cattle.

  8. Urological complications after radical hysterectomy: Incidence rates and predisposing factors

    Likić-Lađević Ivana

    2007-01-01

    Full Text Available Bacground/Aim. Radical hysterectomy is a surgical approach for stage Ib and IIa of cervical cancer. The incidence of intraoperative injuries of the bladder during radical hysterectomy ranges from 0.4-3.7%. The ureter can be crushed, caught in sutures, transsected, obstructed by angulation, or ischemic by the stippling or periureteric fascia. Vesicovaginal and ureterovaginal fistuls are reported to develop in 0.9-2% of patients after radical abdominal hysterectomy. Fistulas usually become manifested or visible at speculum examination within 14 days following the surgery. The aim of this study was to establish the incidence and predisposing factor of urological complications after radical hysterectomy. Methods. The study included a total of 536 patients with invasive stage Ib to IIb cancer of the cervix uteri who had underwent radical hysterectomy. The special elements considered were: the patient’s age; the International Federation of Ginecology and Obstetrics (FIGO stage after pathohistology; duration of operation; the result of preoperative laboratory tests for diabetes, anemia, hypoproteinemia, or disorders of liver or kidney function; ASA status; postoperative surgical infection. Results. The average age of the patients with complications was 48.68 years. All patients with intraoperative ureteric and bladder injuries had statisticaly significant higher stage of disease and operation lasted more than in others without injury. We noticed 1.3% ureteral injuries and 1.49% bladder injuries, more than 50% of the patients with a previously mentioned injuries were operated on more than 3 hours. We found 2.61% vesicovaginal and 2.43% ureterovaginal fistuls. A total of 50% of the patients with bladder injury and vesicovaginal fistuls and 70% of the patients with ureterovaginal fistuls had diabetes mellitus. Postoperative infection of surgical site is a very important factor for the development of fistule. Half of the patients with vesicovaginal

  9. COMPARATIVE EVALUATION OF RISK FACTORS FOR CARDIOVASCULAR DISEASE (CVD) IN GENETICALLY PREDISPOSED RATS

    Rodent CVD models are increasingly used for understanding individual differences in susceptibility to environmental stressors such as air pollution. We characterized pathologies and a number of known human risk factors of CVD in genetically predisposed, male young adult Spontaneo...

  10. Diet- and colonization-dependent intestinal dysfunction predisposes to necrotizing enterocolitis in preterm pigs

    Sangild, Per T.; Siggers, Richard H.; Schmidt, Mette;

    2006-01-01

    Background & Aims: Preterm birth and formula feeding are key risk factors associated with necrotizing enterocolitis (NEC) in infants, but little is known about intestinal conditions that predispose to disease. Thus, structural, functional, and microbiologic indices were used to investigate the...

  11. Predisposing factors in posterior circulation infarcts: a vascular morphological assessment

    Coban, Goekcen; Cifci, Egemen; Yildirim, Erkan; Agildere, Ahmet Muhtesem [Baskent University Faculty of Medicine, Department of Radiology, Konya (Turkey)

    2015-05-01

    The aim of the study is to assess the effect of shape, diameter, elongation and deviation criteria of basilar artery (BA), convergence angle and diameter variations of vertebral arteries, and concurrent chronic diseases on posterior circulation infarcts. Between January 2010 and May 2013, 186 patients who underwent brain and diffusion magnetic resonance imaging (MRI) with suspected cerebrovascular accident and were diagnosed with posterior circulation infarct and 120 infarct negative control subjects were included in this case-control retrospective study. Vertebral artery (VA) and BA diameter, right (R) and left (L) VA angles at the level of bifurcation, and BA elongation-deviation, and shape of BA were assessed in a total of 306 subjects. Ischemic lesions in the posterior circulation were classified according to their anatomical location and vascular perfusion areas. No significant difference was noted between the control and patient groups with respect to BA diameter (p = 0.676). The most effective risk factors for posterior circulation infarcts were as follows: BA elongation of 2 or 3, BA transverse location of 2 or 3, increase in left VA angle, and history of hypertension, hypercholesterolemia, and diabetes mellitus. Our results suggest that prominent elongation and deviation, C and J shape of BA, and increased L VA angle may be the predictors of at-risk patients in posterior circulation infarcts. Reporting marked morphological BA and VA variations detected at routine brain MRI will aid in selection of patients. Timely detection and treatment of at-risk patients may be life-saving. (orig.)

  12. Predisposing factors in posterior circulation infarcts: a vascular morphological assessment

    The aim of the study is to assess the effect of shape, diameter, elongation and deviation criteria of basilar artery (BA), convergence angle and diameter variations of vertebral arteries, and concurrent chronic diseases on posterior circulation infarcts. Between January 2010 and May 2013, 186 patients who underwent brain and diffusion magnetic resonance imaging (MRI) with suspected cerebrovascular accident and were diagnosed with posterior circulation infarct and 120 infarct negative control subjects were included in this case-control retrospective study. Vertebral artery (VA) and BA diameter, right (R) and left (L) VA angles at the level of bifurcation, and BA elongation-deviation, and shape of BA were assessed in a total of 306 subjects. Ischemic lesions in the posterior circulation were classified according to their anatomical location and vascular perfusion areas. No significant difference was noted between the control and patient groups with respect to BA diameter (p = 0.676). The most effective risk factors for posterior circulation infarcts were as follows: BA elongation of 2 or 3, BA transverse location of 2 or 3, increase in left VA angle, and history of hypertension, hypercholesterolemia, and diabetes mellitus. Our results suggest that prominent elongation and deviation, C and J shape of BA, and increased L VA angle may be the predictors of at-risk patients in posterior circulation infarcts. Reporting marked morphological BA and VA variations detected at routine brain MRI will aid in selection of patients. Timely detection and treatment of at-risk patients may be life-saving. (orig.)

  13. Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.

    Bourdeaut, Franck; Miquel, Catherine; Richer, Wilfrid; Grill, Jacques; Zerah, Michel; Grison, Camille; Pierron, Gaelle; Amiel, Jeanne; Krucker, Clementine; Radvanyi, Francois; Brugieres, Laurence; Delattre, Olivier

    2014-02-01

    Medulloblastomas (MB) are classified in four subgroups: the well defined WNT and Sonic Hedgehog (SHH) subgroups, and the less defined groups 3 and 4. They occasionally occur in the context of a cancer predisposition syndrome. While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors. We report on a child with a Rubinstein-Taybi syndrome (RTS) due to a germline deletion in CREBBP, who developed a MB. Biological profilings demonstrate that this tumor belongs to the group 3. RTS may therefore be the first predisposition syndrome identified for non-WNT/non-SHH MB. PMID:24115570

  14. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

    Zhang, J.X.; Fu, L.; Voer, R.M. de; Hahn, M.M.; Jin, P.; Lv, C.X.; Verwiel, E.T.; Ligtenberg, M.J.L.; Hoogerbrugge, N.; Kuiper, R.P.; Sheng, J.Q.; Geurts van Kessel, A.H.M.

    2015-01-01

    AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer (CRC) predisposing genes in early-onset or familial CRC cases. METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with non-polyposis CRC

  15. Interleukin-17 receptor polymorphism predisposes to primary graft dysfunction after lung transplantation

    Somers, Jana; Ruttens, David; Verleden, Stijn; Vandermeulen, Elly; Piloni, Davide; Wauters, Els; Lambrechts, Diether; Vos, Robin; Verleden, Geert; Vanaudenaerde, Bart; Van Raemdonck, Dirk

    2015-01-01

    Primary graft dysfunction (PGD), with an incidence of 11% to 57%, is a major cause of morbidity and mortality within the first 30 days after lung transplantation (LTx). In this study, we postulate that recipient genetic variants in interleukin-17 and -23 receptor genes (IL-17R and IL-23R, respectively) may predispose LTx recipients to an increased risk for developing PGD.

  16. Astroglial c-Myc overexpression predisposes mice to primary malignant gliomas

    Jensen, Niels Aagaard; Pedersen, Karen-Marie; Lihme, Frederikke;

    2003-01-01

    Malignant astrocytomas are common human primary brain tumors that result from neoplastic transformation of astroglia or their progenitors. Here we show that deregulation of the c-Myc pathway in developing astroglia predisposes mice to malignant astrocytomas within 2-3 weeks of age. The genetically...

  17. Identifying Some Factors That Might Predispose Drug Abuse among Learners in a South African Township School

    Grobler, R.; Khatite, M.

    2012-01-01

    This study inquires into some of the factors that might predispose the use and abuse of drugs among secondary school learners in a township school. The objective of this research is to identify these factors and to offer a few suggestions on how the abuse may be prevented. A quantitative research strategy is used and a document analysis technique…

  18. Fat Oxidation in Black and White Youth: A Metabolic Phenotype Potentially Predisposing Black Girls to Obesity

    Lee, SoJung; Arslanian, Silva A.

    2008-01-01

    Introduction: The prevalence of obesity is higher in Blacks with racial divergence in adiposity in girls starting during adolescence. Our hypothesis is that in Black children, puberty associated increase in fat oxidation is diminished and could play a role in predisposing to fat accretion triggered during puberty. Thus, we examined the relationships between race, pubertal development, and postabsorptive fat oxidation in youth.

  19. Predisposal Management of Low and Intermediate Level Radioactive Waste. Safety Guide

    The objective of this Safety Guide is to provide regulatory bodies and the operators that generate and manage radioactive waste with recommendations on how to meet the principles and requirements established for the predisposal management of low and intermediate level waste. Contents: 1. Introduction; 2. Protection of human health and the environment; 3. Roles and responsibilities; 4. General safety considerations; 5. Safety features for the predisposal management of LILW; 6. Record keeping and reporting; 7. Safety assessment; 8. Quality assurance; Annex I: Nature and sources of LILW from nuclear facilities; Annex II: Development of specifications for waste packages; Annex III: Site conditions, processes and events for consideration in a safety assessment (external natural phenomena); Annex IV: Site conditions, processes and events for consideration in a safety assessment (external human induced phenomena); Annex V: Postulated initiating events for consideration in a safety assessment (internal phenomena).

  20. A causal model of post-traumatic stress disorder: disentangling predisposed from acquired neural abnormalities.

    Admon, Roee; Milad, Mohammed R; Hendler, Talma

    2013-07-01

    Discriminating neural abnormalities into the causes versus consequences of psychopathology would enhance the translation of neuroimaging findings into clinical practice. By regarding the traumatic encounter as a reference point for disease onset, neuroimaging studies of post-traumatic stress disorder (PTSD) can potentially allocate PTSD neural abnormalities to either predisposing (pre-exposure) or acquired (post-exposure) factors. Based on novel research strategies in PTSD neuroimaging, including genetic, environmental, twin, and prospective studies, we provide a causal model that accounts for neural abnormalities in PTSD, and outline its clinical implications. Current data suggest that abnormalities within the amygdala and dorsal anterior cingulate cortex represent predisposing risk factors for developing PTSD, whereas dysfunctional hippocampal-ventromedial prefrontal cortex (vmPFC) interactions may become evident only after having developed the disorder. PMID:23768722

  1. Predisposing factors in microbial keratitis: the significance of contact lens wear.

    Dart, J K

    1988-01-01

    Fifty-three patients consecutively admitted to Moorfields Eye Hospital for treatment of suspected microbial keratitis were examined to identify predisposing factors. The principal associations were pre-existing corneal disease (22 patients (41.5%] and contact lens wear (22 patients (41.5%]. In 13 cases (25%) contact lens wear was the only factor in patients with otherwise healthy eyes using contact lenses as an alternative to spectacles. Gram-negative keratitis was more frequent in the lens w...

  2. Predisposing factors of Family Conflict and Elements for a Comfortable and Sustainable Family Life in Finland.

    Poudel, Komal

    2010-01-01

    ABSTRACT Komal Poudel, Predisposing factors of Family Conflict and Elements for a Comfortable and Sustainable Family Life in Finland. Spring 2010, Diaconia University of Applied Sciences, Diak South, Jarvenpaa Unit, Degree program in Social Services. In the modern world, the family relationship seems to be vulnerable and it is the human factor that can make a change. It is a huge social problem in developed countries and has been increasing in developing countries as well. Unst...

  3. Predisposing Factors of Complicated Deep Neck Infection: An Analysis of 158 Cases

    Lee, Joon-Kyoo; Kim, Hee-Dae; Lim, Sang-Chul

    2007-01-01

    Both the introduction of antibiotics and improvements in oral hygiene have made deep neck infections occur less frequently today than in the past. Nevertheless, the complications from these infections are often life-threatening. The purpose of this article was to review the clinical findings of deep neck infections and identify the predisposing factors of these complications. The present study reviewed 158 cases of deep neck infections between the years of 1995 to 2004, 23 of which had life-t...

  4. Exploring genetic variants predisposing to diabetes mellitus and their association with indicators of socioeconomic status

    Schmidt, Börge; Dragano, Nico; Scherag, André; Pechlivanis, Sonali; Hoffmann, Per; Nöthen, Markus M; Erbel, Raimund; Jöckel, Karl-Heinz; Moebus, Susanne

    2014-01-01

    Background The relevance of disease-related genetic variants for the explanation of social inequalities in complex diseases is unclear and empirical analyses are largely missing. The aim of our study was to examine whether genetic variants predisposing to diabetes mellitus are associated with socioeconomic status in a population-based cohort. Methods We genotyped 11 selected diabetes-related single nucleotide polymorphisms in 4655 participants (age 45-75 years) of the Heinz Nixdorf Recall stu...

  5. Predisposing factors to lateral ankle injury in male comrades marathon runners

    J. Hiemstra; Naidoo, N

    2009-01-01

    Introduction: More than two million people experience ankle ligament traumaeach year in the United States. Half of these are severe ligament sprains, however verylittle is known about the factors that predispose individuals to these injuries. The purpose of this study, (which was conducted as an undergraduate research project),was to find a correlation between the characteristics of height, weight and limbdominance and lateral ankle ligament injuries. Method: A  retrospective study was conduc...

  6. An exploratory study of predisposing factors for eating disorders in adolescent girls

    Mokbel, Carine

    1988-01-01

    Research efforts in the area of eating disorders have been numerous and varied. However, few studies have investigated the existence of specific predisposing factors that could render a young female adolescent more susceptible to developing an eating disorder. The present study was attempted in an effort to fill this knowledge gap. One hundred and fifty nine, 12 to 14 year old female students not known as having an eating disorder, were surveyed at a public school in Roanoke County, Virginia....

  7. Levofloxacin-Induced Achilles Tendinitis in a Young Adult in the Absence of Predisposing Conditions

    Durey, Areum; Baek, Yong Soo; Park, Jin Seok; Lee, Kwangsoo; Ryu, Jeong-Seon; Lee, Jin-Soo; Cheong, Moon-Hyun

    2010-01-01

    Fluoroquinolones (FQs) represent a major class of antimicrobials that have a high potential as therapeutic agents. Although FQs are generally safe for the use as antimicrobials, they may induce tendinopathic complications such as tendinitis and tendon rupture. A number of factors have been suggested to further predispose a patient to such injuries. Hitherto, a few published cases on tendon disorders have implicated levofloxacin, a more recently introduced FQ. Here, we report a patient with le...

  8. Exacerbated Mechanical Hyperalgesia in Rats with Genetically Predisposed Depressive Behavior: Role of Melatonin and NMDA Receptors

    Wang, Shuxing; Tian, Yinghong; Song, Li; Lim, Grewo; Tan, Yonghui; You, Zerong; Chen, Lucy; Mao, Jianren

    2012-01-01

    A connection between pain and depression has long been recognized in the clinical setting; however, its mechanism remains unclear. In this study, we showed that mechanical hyperalgesia induced by unilateral temporomandibular joint (TMJ) inflammation was exacerbated in Wistar-Kyoto (WKY) rats with genetically predisposed depressive behavior. Reciprocally, TMJ inflammation enhanced depressive behavior such that a lower nociceptive threshold correlated with a higher score of depressive behavior ...

  9. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    de Kovel, Carolien G F; Trucks, Holger; Helbig, Ingo;

    2010-01-01

    Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletions...... at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 in various neuropsychiatric disorders including autism, intellectual disability and schizophrenia. Microdeletions at 15q13.3 have recently been shown to constitute a strong genetic risk factor for common idiopathic generalized epilepsy...... syndromes, implicating that other recurrent microdeletions may also be involved in epileptogenesis. This study aimed to investigate the impact of five microdeletions at the genomic hotspot regions 1q21.1, 15q11.2, 16p11.2, 16p13.11 and 22q11.2 on the genetic risk to common idiopathic generalized epilepsy...

  10. Predisposal management of low and intermediate level radioactive waste. Safety guide

    Radioactive waste is generated in the generation of electricity in nuclear power reactors and in the use of radioactive material in industry, research and medicine. The importance of the safe management of radioactive waste for the protection of human health and the environment has long been recognized. The principles and requirements that govern the safety of the management of radioactive waste are presented in 'The Principles of Radioactive Waste Management', 'Legal and Governmental Infrastructure for Nuclear, Radiation, Radioactive Waste and Transport Safety' and 'Predisposal Management of Radioactive Waste, Including Decommissioning'. The objective of this Safety Guide is to provide regulatory bodies and the operators that generate and manage radioactive waste with recommendations on how to meet the principles and requirements established in Refs for the predisposal management of LLW. This Safety Guide deals with the safety issues associated with the predisposal management of LLW from nuclear fuel cycle facilities, large research and development installations and radioisotope production facilities. This includes all steps and activities in the management of waste, from its initial generation to its final acceptance at a waste disposal facility or the removal of regulatory control. The predisposal management of radioactive waste includes decommissioning. The term 'decommissioning' encompasses both the process of decommissioning a facility and the management of the waste that results (prior to its disposal). Recommendations on the process of decommissioning are provided in Refs. Recommendations on the management of the waste resulting from decommissioning are included in this Safety Guide. Although the mining and milling of uranium and thorium ores is part of the nuclear fuel cycle, the management of the operational waste (e.g. waste rock, tailings and effluent treatment waste) from these activities is not within the scope of this Safety Guide. The LLW that is

  11. Maternal air pollution exposure induces fetal neuroinflammation and predisposes offspring to obesity in aduthood in a sex-specific manner

    Emerging evidence suggests environmental chemical exposures during critical windows of development may contribute to the escalating prevalence of obesity. We tested the hypothesis that prenatal air pollution exposure would predispose the offspring to weight gain in adulthood. Pre...

  12. Technical Note: Assessing predictive capacity and conditional independence of landslide predisposing factors for shallow landslide susceptibility models

    S. Pereira

    2012-04-01

    Full Text Available The aim of this study is to identify the landslide predisposing factors' combination using a bivariate statistical model that best predicts landslide susceptibility. The best model is one that has simultaneously good performance in terms of suitability and predictive power and has been developed using variables that are conditionally independent. The study area is the Santa Marta de Penaguião council (70 km2 located in the Northern Portugal.

    In order to identify the best combination of landslide predisposing factors, all possible combinations using up to seven predisposing factors were performed, which resulted in 120 predictions that were assessed with a landside inventory containing 767 shallow translational slides. The best landslide susceptibility model was selected according to the model degree of fitness and on the basis of a conditional independence criterion. The best model was developed with only three landslide predisposing factors (slope angle, inverse wetness index, and land use and was compared with a model developed using all seven landslide predisposing factors.

    Results showed that it is possible to produce a reliable landslide susceptibility model using fewer landslide predisposing factors, which contributes towards higher conditional independence.

  13. Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome

    Pravenec, Michal; Kožich, V.; Krijt, J.; Sokolová, J.; Zídek, Václav; Landa, Vladimír; Mlejnek, Petr; Šilhavý, Jan; Šimáková, Miroslava; Škop, V.; Trnovská, J.; Kazdová, L.; Kajiya, T.; Wang, J. M.; Kurtz, T. W.

    2016-01-01

    Roč. 67, č. 2 (2016), s. 335-341. ISSN 0194-911X R&D Projects: GA ČR GA14-09283S; GA MŠk(CZ) LH12061; GA MŠk(CZ) LL1204 Institutional support: RVO:67985823 Keywords : blood pressure * cysteine * folate receptor 1 * metabolic syndrome X * rats * inbred SHR Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition Impact factor: 6.480, year: 2014

  14. Renal resistance and long-term blood pressure in individuals genetically predisposed for essential hypertension

    Buus, Niels H; Mulvany, Michael J; Eiskjær, Hans; Christensen, Kent L; Skov, Karin

    2016-01-01

    follow-up period in offspring of parents both diagnosed with essential hypertension. METHODS: Based on renal plasma flow (p-aminohippurate clearance) and glomerular filtration rate (Cr-EDTA clearance) RA was calculated according to the model originally established by Gomez. Following baseline......AIM: Young individuals genetically predisposed for essential hypertension have increased renal vascular resistance. We evaluated whether 1 year of angiotensin II receptor blockade decreases afferent arteriolar resistance (RA) and induces a sustained blood pressure (BP) reduction during a 10-year...

  15. The Predisposing Factors between Dental Caries and Deviations from Normal Weight

    Amandeep Chopra; Nanak Chand Rao; Nidhi Gupta; Shelja Vashisth; Manav Lakhanpal

    2015-01-01

    Background: Dental caries and deviations from normal weight are two conditions which share several broadly predisposing factors. So it′s important to understand any relationship between dental state and body weight if either is to be managed appropriately. Aims: The study was done to find out the correlation between body mass index (BMI), diet, and dental caries among 12-15-year-old schoolgoing children in Panchkula District. Materials and Methods: A multistage sample of 12-15-year-old school...

  16. A case of native valve endocarditis caused by Burkholderia cepacia without predisposing factors

    Han Seong

    2011-05-01

    Full Text Available Abstract Background Infective endocarditis is rarely caused by Burkholderia cepacia. This infection is known to occur particularly in immunocompromised hosts, intravenous heroin users, and in patients with prosthetic valve replacement. Most patients with Burkholderia cepacia endocarditis usually need surgical treatment in addition to antimicrobial treatment. Case Presentation Here, we report the case of a patient who developed Burkholderia cepacia-induced native valve endocarditis with consequent cerebral involvement without any predisposing factors; she was successfully treated by antimicrobial agents only. Conclusion In this report, we also present literature review of relevant cases.

  17. Anatomic variation and orgasm: Could variations in anatomy explain differences in orgasmic success?

    Emhardt, E; Siegel, J; Hoffman, L

    2016-07-01

    Though the public consciousness is typically focused on factors such as psychology, penis size, and the presence of the "G-spot," there are other anatomical and neuro-anatomic differences that could play an equal, or more important, role in the frequency and intensity of orgasms. Discovering these variations could direct further medical or procedural management to improve sexual satisfaction. The aim of this study is to review the available literature of anatomical sexual variation and to explain why this variation may predispose some patients toward a particular sexual experience. In this review, we explored the available literature on sexual anatomy and neuro-anatomy. We used PubMed and OVID Medline for search terms, including orgasm, penile size variation, clitoral variation, Grafenberg spot, and benefits of orgasm. First we review the basic anatomy and innervation of the reproductive organs. Then we describe several anatomical variations that likely play a superior role to popular known variation (penis size, presence of g-spot, etc). For males, the delicate play between the parasympathetic and sympathetic nervous systems is vital to achieve orgasm. For females, the autonomic component is more complex. The clitoris is the primary anatomical feature for female orgasm, including its migration toward the anterior vaginal wall. In conclusions, orgasms are complex phenomena involving psychological, physiological, and anatomic variation. While these variations predispose people to certain sexual function, future research should explore how to surgically or medically alter these. Clin. Anat. 29:665-672, 2016. © 2016 Wiley Periodicals, Inc. PMID:26916103

  18. Posterior reversible encephalopathy syndrome: do predisposing risk factors make a difference in MRI appearance?

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological entity, characterized by typical neurological deficits, distinctive magnetic resonance imaging (MRI) features, and a usually benign clinical course. Although frequently seen in association with hypertensive conditions, many other predisposing factors, notably cytotoxic and immunosuppressant drugs have been associated with PRES. The aim of this study was to determine differences in the MR appearance of PRES according to various risk factors. Thirty consecutive patients with clinical and MRI findings consistent with PRES were included. We identified 24 patients with hypertension-related conditions, including 14 patients with preeclampsia-eclampsia, and six patients without hypertension, in whom PRES was associated with exposition to neurotoxic substances. Lesion distribution, extent of disease, and number of affected brain regions were compared between patients with PRES with and without hypertension, and patients with PRES with and without preeclampsia-eclampsia, respectively. No statistically significant differences in distribution of lesions and extent of disease were observed between patients with PRES with or without hypertension, and patients with or without preeclampsia-eclampsia, respectively. The number of affected brain regions was significantly higher in patients with preeclampsia-eclampsia (p = 0.046), and the basal ganglia region was more frequently involved in these patients (p = 0.066). Apart from a significant higher number of involved brain regions and a tendency for basal ganglia involvement in patients with PRES associated with preeclampsia-eclampsia, the MRI appearance of patients with PRES does not seem to be influenced by predisposing risk factors. (orig.)

  19. Posterior reversible encephalopathy syndrome: do predisposing risk factors make a difference in MRI appearance?

    Mueller-Mang, Christina; Mang, Thomas; Prayer, Daniela [Medical University of Vienna, Department of Radiology, Vienna (Austria); Pirker, Agnes [Medical University of Vienna, Department of Neurology, Vienna (Austria); Klein, Katharina [Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna (Austria); Prchla, Christine [SMZ-Ost Danube Hospital, Department of Pediatrics, Vienna (Austria)

    2009-06-15

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological entity, characterized by typical neurological deficits, distinctive magnetic resonance imaging (MRI) features, and a usually benign clinical course. Although frequently seen in association with hypertensive conditions, many other predisposing factors, notably cytotoxic and immunosuppressant drugs have been associated with PRES. The aim of this study was to determine differences in the MR appearance of PRES according to various risk factors. Thirty consecutive patients with clinical and MRI findings consistent with PRES were included. We identified 24 patients with hypertension-related conditions, including 14 patients with preeclampsia-eclampsia, and six patients without hypertension, in whom PRES was associated with exposition to neurotoxic substances. Lesion distribution, extent of disease, and number of affected brain regions were compared between patients with PRES with and without hypertension, and patients with PRES with and without preeclampsia-eclampsia, respectively. No statistically significant differences in distribution of lesions and extent of disease were observed between patients with PRES with or without hypertension, and patients with or without preeclampsia-eclampsia, respectively. The number of affected brain regions was significantly higher in patients with preeclampsia-eclampsia (p = 0.046), and the basal ganglia region was more frequently involved in these patients (p = 0.066). Apart from a significant higher number of involved brain regions and a tendency for basal ganglia involvement in patients with PRES associated with preeclampsia-eclampsia, the MRI appearance of patients with PRES does not seem to be influenced by predisposing risk factors. (orig.)

  20. Androgen excess produces systemic oxidative stress and predisposes to beta-cell failure in female mice.

    Suhuan Liu

    Full Text Available In women, excess production of the male hormone, testosterone (T, is accompanied by insulin resistance. However, hyperandrogenemia is also associated with beta-cell dysfunction and type 2 diabetes raising the possibility that androgen receptor (AR activation predisposes to beta-cell failure. Here, we tested the hypothesis that excess AR activation produces systemic oxidative stress thereby contributing to beta-cell failure. We used normal female mice (CF and mice with androgen resistance by testicular feminization (Tfm. These mice were exposed to androgen excess and a beta-cell stress induced by streptozotocin (STZ. We find that following exposure to T, or the selective AR-agonist dehydrotestosterone (DHT, CF mice challenged with STZ, which are normally protected, are prone to beta-cell failure and insulin-deficient diabetes. Conversely, T-induced predisposition to beta-cell failure is abolished in Tfm mice. We do not observe any proapoptotic effect of DHT alone or in the presence of H(2O(2 in cultured mouse and human islets. However, we observe that exposure of CF mice to T or DHT provokes systemic oxidative stress, which is eliminated in Tfm mice. This work has significance for hyperandrogenic women; excess activation of AR by testosterone may provoke systemic oxidative stress. In the presence of a prior beta-cell stress, this may predispose to beta-cell failure.

  1. Trematode infections in pregnant ewes can predispose to mastitis during the subsequent lactation period.

    Mavrogianni, V S; Papadopoulos, E; Spanos, S A; Mitsoura, A; Ptochos, S; Gougoulis, D A; Barbagianni, M S; Kyriazakis, I; Fthenakis, G C

    2014-02-01

    Objective was to investigate if trematode infections predispose ewes to mastitis and/or metritis. We used 80 trematode-infected ewes: primigravidae in group P-A and multigravidae in M-A remained untreated, primigravidae in P-B and multigravidae in M-B were drenched with netobimin and multigravidae in M-C were given rafoxanide. We collected faecal samples for parasitological examination, blood samples for β-hydroxybutyrate concentration measurement and uterine content, teat duct material and milk samples for bacteriological examination. We found significant differences in blood β-hydroxybutyrate concentrations between M-A, M-B and M-C during pregnancy (P ⩽ 0.002). We did not observe significant differences between groups regarding development of metritis (P>0.83). We found that for M-A, M-B and M-C ewes, respectively, median time to first case of mastitis was 5.75, 21 and 6.75 days after lambing (P = 0.003) and incidence risk of mastitis was 0.308, 0.069 and 0.222 (P = 0.047). We postulate that trematode infections predispose ewes to mastitis; perhaps, increased β-hydroxybutyrate blood concentrations adversely affect mammary cellular defences. This is the first report associating parasitic infections with mastitis in sheep. PMID:24331730

  2. Bayesian analysis of uncertainty in predisposing and triggering factors for landslides hazard assessment

    Sandric, I.; Petropoulos, Y.; Chitu, Z.; Mihai, B.

    2012-04-01

    The landslide hazard analysis models takes into consideration both predisposing and triggering factors combined into a Bayesian temporal network with uncertainty propagation. The model uses as predisposing factors the first and second derivatives from DEM, the effective precipitations, runoff, lithology and land use. The latter is expressed not as land use classes, as for example CORINE, but as leaf area index. The LAI offers the advantage of modelling not just the changes from different time periods expressed in years, but also the seasonal changes in land use throughout a year. The LAI index was derived from Landsat time series images, starting from 1984 and up to 2011. All the images available for the Panatau administrative unit in Buzau County, Romania, have been downloaded from http://earthexplorer.usgs.gov, including the images with cloud cover. The model is run in a monthly time step and for each time step all the parameters values, a-priory, conditional and posterior probability are obtained and stored in a log file. The validation process uses landslides that have occurred during the period up to the active time step and checks the records of the probabilities and parameters values for those times steps with the values of the active time step. Each time a landslide has been positive identified new a-priory probabilities are recorded for each parameter. A complete log for the entire model is saved and used for statistical analysis and a NETCDF file is created

  3. Primary Otomycosis in the Indian Subcontinent: Predisposing Factors, Microbiology, and Classification

    Sampath Chandra Prasad

    2014-01-01

    Full Text Available Objective. To define otomycosis and determine the predisposing factors and microbiology in primary otomycosis. Study Design. Prospective study of two years and review of the literature. Setting. Academic Department of Otolaryngology in a coastal city in India. Patients. 150 immunocompetent individuals of whom 100 consecutive patients with a clinical diagnosis of otomycosis are considered as the study group and 50 consecutive patients with no otomycosis are considered as the control group. Results and Observations. Instillation of coconut oil (42%, use of topical antibiotic eardrops (20%, and compulsive cleaning of external ear with hard objects (32% appeared to be the main predisposing factors in otomycosis. Aspergilli were the most common isolates (80% followed by Penicillium (8%, Candida albicans (4%, Rhizopus (1%, and Chrysosporium (1%, the last being reported for the first time in otomycosis. Among aspergilli, A. niger complex (38% was the most common followed by A. fumigatus complex (27% and A. flavus complex (15%. Bacterial isolates associated with fungi in otomycosis were S. aureus, P. aeruginosa, and Proteus spp. In 42% of healthy external ears fungi were isolated. Conclusion. Aspergillus spp. were the most common fungi isolated, followed by Penicillium. Otomycotic ears are often associated with bacterial isolates when compared to normal ears. Fungi are also present in a significant number of healthy external auditory canals and their profiles match those in cases of otomycosis. The use of terms “primary” and “secondary” otomycosis is important to standardize reporting.

  4. Anatomic Variations of the Paranasal Sinuses on CT Scan Images

    AR. Talaiepour; Sazgar AA; A. Bagheri

    2005-01-01

    Statement of Problem: Variation in paranasal sinus anatomy as shown on computed tomographic scans is of potential significance for it may pose risks during surgery or predispose to certain pathologic conditions.Purpose: The aim of this study was to assess the relative frequency and concurrence of variations in paranasal sinus anatomy in a given population and to compare the results with previous investigations conducted on different populations.Materials and Methods: All patients over 16 year...

  5. General control nonderepressible 2 deletion predisposes to asparaginase-associated pancreatitis in mice.

    Phillipson-Weiner, Lindsey; Mirek, Emily T; Wang, Yongping; McAuliffe, W Geoffrey; Wek, Ronald C; Anthony, Tracy G

    2016-06-01

    Treatment with the antileukemic agent asparaginase can induce acute pancreatitis, but the pathophysiology remains obscure. In the liver of mice, eukaryotic initiation factor 2 (eIF2) kinase general control nonderepressible 2 (GCN2) is essential for mitigating metabolic stress caused by asparaginase. We determined the consequences of asparaginase treatment on the pancreata of wild-type (WT, GCN2-intact) and GCN2-deleted (ΔGcn2) mice. Mean pancreas weights in ΔGcn2 mice treated with asparaginase for 8 days were increased (P Pap)] were elevated in asparaginase-treated ΔGcn2, but not WT, mice. These data indicate that loss of GCN2 predisposes the exocrine pancreas to a maladaptive ER stress response and autophagy during asparaginase treatment and represent a genetic basis for development of asparaginase-associated pancreatitis. PMID:26968207

  6. Poverty as a predisposing factor of illness tendencies in sugar cane workers.

    Rossi Rocha, Fernanda Ludmilla; Palucci Marziale, Maria Helena; Cruz Robazzi, Maria Lucia do Carmo

    2007-01-01

    This exploratory research based on the Social Ecological Theory aimed to study the health promotion of 39 people working in the harvest of the sugarcane in São Paulo, Brazil. The objectives were to identify the individual, social and environmental factors predisposing the workers to illnesses. The data were collected through direct observation of the labor activity and a questionnaire. The main individual determinant factors were physical effort and hectic work rhythm, and among the environmental factors, intense solar radiation, dust, soot and the presence of venomous animals were highlighted. The conditions of life and work reflect the poverty of these individuals and are the main social determinants of illness. The interaction of these factors can cause respiratory, cutaneous, musculoskeletal problems, occupational accidents. Thus, eradicating poverty and improving work conditions are fundamental for the health promotion of these workers. PMID:17934578

  7. SIMPLIFYING CELIAC DISEASE PREDISPOSING HLA-DQ ALLELES DETERMINATION BY THE REAL TIME PCR METHOD

    Nicole SELLESKI

    2015-06-01

    Full Text Available Background Celiac disease is an autoimmune enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Genetic susceptibility is associated with two sets of alleles, DQA1*05 - DQB1*02 and DQA1*03 - DQB1*03:02, which code for class II MHC DQ2 and DQ8 molecules, respectively. Approximately 90%-95% of celiac patients are HLA-DQ2 positive, and half of the remaining patients are HLA-DQ8 positive. In fact, during a celiac disease diagnostic workup, the absence of these specific DQA and DQB alleles has a near perfect negative predictive value. Objective Improve the detection of celiac disease predisposing alleles by combining the simplicity and sensitivity of real-time PCR (qPCR and melting curve analysis with the specificity of sequence-specific primers (SSP. Methods Amplifications of sequence-specific primers for DQA1*05 (DQ2, DQB1*02 (DQ2, and DQA1*03 (DQ8 were performed by the real time PCR method to determine the presence of each allele in independent reactions. Primers for Human Growth Hormone were used as an internal control. A parallel PCR-SSP protocol was used as a reference method to validate our results. Results Both techniques yielded equal results. From a total of 329 samples the presence of HLA predisposing alleles was determined in 187 (56.8%. One hundred fourteen samples (61% were positive for a single allele, 68 (36.3% for two alleles, and only 5 (2.7% for three alleles. Conclusion Results obtained by qPCR technique were highly reliable with no discordant results when compared with those obtained using PCR-SSP.

  8. Predisposing factors to lateral ankle injury in male comrades marathon runners

    J. Hiemstra

    2009-02-01

    Full Text Available Introduction: More than two million people experience ankle ligament traumaeach year in the United States. Half of these are severe ligament sprains, however verylittle is known about the factors that predispose individuals to these injuries. The purpose of this study, (which was conducted as an undergraduate research project,was to find a correlation between the characteristics of height, weight and limbdominance and lateral ankle ligament injuries. Method: A  retrospective study was conducted on 114 ultra distance runners whoparticipated in the 2006 Comrades Marathon. During race registration, the runners’ height and weight were measuredafter answering a questionnaire regarding their training. Results: 114 runners responded to the questionnaire. From this cohort, 38 (33.3% had sustained previous lateral ankle injuries. Of these 38 injuries, 47.4% of the injuries occurred on the runner’s dominant limb and 36.8% occurred on thenon-dominant side. 15.8% of the runners sustained previous ankle injuries to both ankles. There was a low negative correlation coefficient of 0.24 with regards to weight as a risk factor. This indicated that the power of the correlationwas 5.93%. The study demonstrates that there is no correlation between an increase in weight and an increase in theincidence of ankle injury. The correlation coefficient indicated a low correlation between an increase in height and the incidence of ankle injury. However, the power of the correlation at 18.37% makes inaccurate any attempt to predict the height at which a runner would be at most risk for lateral ankle injury. Conclusion: Height and weight are not risk factors predisposing subjects to lateral ankle injury. In addition, the studyillustrated that there was no effect of limb dominance on the incidence of lateral ankle injury.

  9. Studies on the Predisposing Factors of Protein Energy Malnutrition Among Pregnant Women in a Nigerian Community

    Okwu GN

    2008-01-01

    Full Text Available Protein Energy Malnutrition (PEM continues to be a major public health problem in developing countries and affects mostly infants, young children, pregnant and lactating mothers. This study was carried on some of the factors that predispose pregnant women to PEM and hence identify groups at greater risk. A total of 1387 pregnant women (910 in the urban area and 477 in the rural areas were recruited for the study. Anthropometric indices of weight, height and Body Mass Index (BMI of the pregnant women were measured and semi structured questionnaires were used to elicit information on possible predisposing factors such as age, level of education, parity, child spacing etc. Results obtained showed that the mean weight and height of the rural pregnant women, were significantly (p<0.0001 lower than those of the urban pregnant women. The mean BMI of the rural subjects, was also significantly (p< 0.0027 lower than that of the urban subjects. Analysis of the effect of age showed that the younger age category (24 years and below had significantly (p<0.0001 lower mean BMI and higher prevalence of PEM while the effect of level of education showed significantly (p<0006 lower mean BMI and higher PEM prevalence among the less educated (no formal and primary education. Those with parity of two, one and primipara showed significantly (p<0.0175 lower mean BMI while child spacing did not have any significant effect on both mean BMI and prevalence of PEM. The implications of these findings are discussed and recommendations made on how to tackle the problem.

  10. CvADH1, a member of short-chain alcohol dehydrogenase family, is inducible by gibberellin and sucrose in developing watermelon seeds.

    Kim, Joonyul; Kang, Hong-Gyu; Jun, Sung-Hoon; Lee, Jinwon; Yim, Jieun; An, Gynheung

    2003-01-01

    To understand the molecular mechanisms that control seed formation, we selected a seed-preferential gene (CvADH1) from the ESTs of developing watermelon seeds. RNA blot analysis and in situ localization showed that CvADH1 was preferentially expressed in the nucellar tissue. The CvADH1 protein shared about 50% homology with short-chain alcohol dehydrogenase including ABA2 in Arabidopsis thaliana, stem secoisolariciresinol dehydrogenase in Forsythia intermedia, and 3beta-hydroxysterol dehydrogenase in Digitalis lanata. We investigated gene-expression levels in seeds from both normally pollinated fruits and those made parthenocarpic via N-(2-chloro-4-pyridyl)-N'-phenylurea treatment, the latter of which lack zygotic tissues. Whereas the transcripts of CvADH1 rapidly started to accumulate from about the pre-heart stage in normal seeds, they were not detectable in the parthenocarpic seeds. Treating the parthenogenic fruit with GA(3) strongly induced gene expression, up to the level accumulated in pollinated seeds. These results suggest that the CvADH1 gene is induced in maternal tissues by signals made in the zygotic tissues, and that gibberellin might be one of those signals. We also observed that CvADH1 expression was induced by sucrose in the parthenocarpic seeds. Therefore, we propose that the CvADH1 gene is inducible by gibberellin, and that sucrose plays an important role in the maternal tissues of watermelon during early seed development. PMID:12552151

  11. Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

    Su, Zhan; Gay, Laura J.; Strange, Amy; Palles, Claire; Band, Gavin; Whiteman, David C.; Lescai, Francesco; Langford, Cordelia; Nanji, Manoj; Edkins, Sarah; van der Winkel, Anouk; Levine, David; Sasieni, Peter; Bellenguez, Celine; Howarth, Kimberley; Freeman, Colin; Trudgill, Nigel; Tucker, Art T.; Pirinen, Matti; Peppelenbosch, Maikel P.; van der Laan, Luc J. W.; Kuipers, Ernst J.; Drenth, Joost P. H.; Peters, Wilbert H.; Reynolds, John V.; Kelleher, Dermot P.; McManus, Ross; Grabsch, Heike; Prenen, Hans; Bisschops, Raf; Krishnadath, Kausila; Siersema, Peter D.; van Baal, Jantine W. P. M.; Middleton, Mark; Petty, Russell; Gillies, Richard; Burch, Nicola; Bhandari, Pradeep; Paterson, Stuart; Edwards, Cathryn; Penman, Ian; Vaidya, Kishor; Ang, Yeng; Murray, Iain; Patel, Praful; Ye, Weimin; Mullins, Paul; Wu, Anna H.; Bird, Nigel C.; Dallal, Helen; Shaheen, Nicholas J.; Murray, Liam J.; Koss, Konrad; Bernstein, Leslie; Romero, Yvonne; Hardie, Laura J.; Zhang, Rui; Winter, Helen; Corley, Douglas A.; Panter, Simon; Risch, Harvey A.; Reid, Brian J.; Sargeant, Ian; Gammon, Marilie D.; Smart, Howard; Dhar, Anjan; McMurtry, Hugh; Ali, Haythem; Liu, Geoffrey; Casson, Alan G.; Chow, Wong-Ho; Rutter, Matt; Tawil, Ashref; Morris, Danielle; Nwokolo, Chuka; Isaacs, Peter; Rodgers, Colin; Ragunath, Krish; MacDonald, Chris; Haigh, Chris; Monk, David; Davies, Gareth; Wajed, Saj; Johnston, David; Gibbons, Michael; Cullen, Sue; Church, Nicholas; Langley, Ruth; Griffin, Michael; Alderson, Derek; Deloukas, Panos; Hunt, Sarah E.; Gray, Emma; Dronov, Serge; Potter, Simon C.; Tashakkori-Ghanbaria, Avazeh; Anderson, Mark; Brooks, Claire; Blackwell, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden; Duncanson, Audrey; Markus, Hugh S.; Mathew, Christopher G.; Palmer, Colin N. A.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Trembath, Richard C.; Viswanathan, Ananth C.; Wood, Nicholas; Trynka, Gosia; Wijmenga, Cisca; Cazier, Jean-Baptiste; Atherfold, Paul; Nicholson, Anna M.; Gellatly, Nichola L.; Glancy, Deborah; Cooper, Sheldon C.; Cunningham, David; Lind, Tore; Hapeshi, Julie; Ferry, David; Rathbone, Barrie; Brown, Julia; Love, Sharon; Attwood, Stephen; MacGregor, Stuart; Watson, Peter; Sanders, Scott; Ek, Weronica; Harrison, Rebecca F.; Moayyedi, Paul; de Caestecker, John; Barr, Hugh; Stupka, Elia; Vaughan, Thomas L.; Peltonen, Leena; Spencer, Chris C. A.; Tomlinson, Ian; Donnelly, Peter; Jankowski, Janusz A. Z.

    2012-01-01

    Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett'

  12. High-novelty-preference rats are predisposed to compulsive cocaine self-administration.

    Belin, David; Berson, Nadège; Balado, Eric; Piazza, Pier Vincenzo; Deroche-Gamonet, Véronique

    2011-02-01

    Sensation/novelty-seeking is amongst the best markers of cocaine addiction in humans. However, its implication in the vulnerability to cocaine addiction is still a matter of debate, as it is unclear whether this trait precedes or follows the development of addiction. Sensation/novelty-seeking trait has been identified in rats on the basis of either novelty-induced locomotor activity (high-responder (HR) trait) or novelty-induced place preference (high-novelty-preference trait (HNP)). HR and HNP traits have been associated with differential sensitivity to psychostimulants. However, it has recently been demonstrated that HR rats do not develop compulsive cocaine self-administration (SA) after protracted exposure to the drug, thereby suggesting that at least one dimension of sensation/novelty seeking in the rat is dissociable from the vulnerability to switch from controlled to compulsive cocaine SA. We therefore investigated whether HNP, as measured as the propensity to choose a new environment in a free choice procedure, as opposed to novelty-induced locomotor activity, predicts the vulnerability to, and the severity of, addiction-like behavior for cocaine. For this, we identified HR/LR rats and HNP/LNP rats before any exposure to cocaine. After 60 days of cocaine SA, each rat was given an addiction score based on three addiction-like behaviors (persistence of responding when the drug is signaled as not available, high breakpoint under progressive ratio schedule and resistance to punishment) that resemble the clinical features of drug addiction, namely inability to refrain from drug seeking, high motivation for the drug and compulsive drug use despite adverse consequences. We show that, as opposed to HR rats, HNP rats represent a sub-population predisposed to compulsive cocaine intake, displaying higher addiction scores than LNP rats. This study thereby provides new insights into the factors predisposing to cocaine addiction, supporting the hypothesis that addiction

  13. The predisposing factors between dental caries and deviations from normal weight

    Amandeep Chopra

    2015-01-01

    Full Text Available Background: Dental caries and deviations from normal weight are two conditions which share several broadly predisposing factors. So it′s important to understand any relationship between dental state and body weight if either is to be managed appropriately. Aims: The study was done to find out the correlation between body mass index (BMI, diet, and dental caries among 12-15-year-old schoolgoing children in Panchkula District. Materials and Methods: A multistage sample of 12-15-year-old school children (n = 810 in Panchkula district, Haryana was considered. Child demographic details and diet history for 5 days was recorded. Data regarding dental caries status was collected using World Health Organization (1997 format. BMI was calculated and categorized according to the World Health Organization classification system for BMI. The data were subjected to statistical analysis using chi-square test and binomial regression developed using the Statistical Package for Social Sciences (SPSS 20.0. Results: The mean Decayed Missing Filled Teeth (DMFT score was found to be 1.72 with decayed, missing, and filled teeth to be 1.22, 0.04, and 0.44, respectively. When the sample was assessed based on type of diet, it was found that vegetarians had higher mean DMFT (1.72 as compared to children having mixed diet. Overweight children had highest DMFT (3.21 which was followed by underweight (2.31 and obese children (2.23. Binomial regression revealed that females were 1.293 times at risk of developing caries as compared to males. Fair and poor Simplified-Oral Hygiene Index (OHI-S showed 3.920 and 4.297 times risk of developing caries as compared to good oral hygiene, respectively. Upper high socioeconomic status (SES is at most risk of developing caries. Underweight, overweight, and obese are at 2.7, 2.5, and 3 times risk of developing caries as compared to children with normal BMI, respectively. Conclusion: Dental caries and deviations from normal weight are two

  14. Discrete deposition of hydroxyapatite nanoparticles on a titanium implant with predisposing substrate microtopography accelerated osseointegration

    Nishimura, Ichiro [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States); Huang Yuhong [Chemat Technology, Incorporated, Northridge, CA (United States); Butz, Frank [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States); Ogawa, Takahiro [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States); Lin, Audrey [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States); Wang, Chiachien Jake [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States)

    2007-06-20

    We report here a new versatile method to deposit discrete hydroxyapatite (HA) nanoparticles on a titanium (Ti) implant with predisposing substrate microtopography, which exhibited an unexpectedly robust biological effect. Commercially pure Ti substrates were treated with 3-aminopropyltriethoxysilane, on which HA nanoparticles (20 nm) were deposited and chemically bonded to TiO{sub 2}. The HA deposition rate was linearly related to the treatment time and HA nanoparticles were deposited on up to 50% of the substrate surface. As a result, the discrete deposition of HA nanoparticles generated novel 20-40 nm nanotopography on the Ti substrate with microtopography that was smooth (turned) or roughened by double acid etching (DAE). The experimental implants with or without HA nanoparticles were surgically placed in rat femur and an implant push-in test was performed after two weeks of healing. The deposition of HA nanoparticles on the DAE surface increased the mechanical withstanding load by 129% and 782% as compared to the control DAE and turned implants, respectively. Micro-computed tomography-based 3D bone morphometry revealed equivalent bone volumes around the DAE implant with or without HA nanoparticles. These data suggest that the discrete deposition of HA nanoparticles accelerates the early osseointegration process, likely through increased shear bonding strengths.

  15. Discrete deposition of hydroxyapatite nanoparticles on a titanium implant with predisposing substrate microtopography accelerated osseointegration

    Nishimura, Ichiro; Huang, Yuhong; Butz, Frank; Ogawa, Takahiro; Lin, Audrey; Wang, Chiachien Jake

    2007-06-01

    We report here a new versatile method to deposit discrete hydroxyapatite (HA) nanoparticles on a titanium (Ti) implant with predisposing substrate microtopography, which exhibited an unexpectedly robust biological effect. Commercially pure Ti substrates were treated with 3-aminopropyltriethoxysilane, on which HA nanoparticles (20 nm) were deposited and chemically bonded to TiO2. The HA deposition rate was linearly related to the treatment time and HA nanoparticles were deposited on up to 50% of the substrate surface. As a result, the discrete deposition of HA nanoparticles generated novel 20-40 nm nanotopography on the Ti substrate with microtopography that was smooth (turned) or roughened by double acid etching (DAE). The experimental implants with or without HA nanoparticles were surgically placed in rat femur and an implant push-in test was performed after two weeks of healing. The deposition of HA nanoparticles on the DAE surface increased the mechanical withstanding load by 129% and 782% as compared to the control DAE and turned implants, respectively. Micro-computed tomography-based 3D bone morphometry revealed equivalent bone volumes around the DAE implant with or without HA nanoparticles. These data suggest that the discrete deposition of HA nanoparticles accelerates the early osseointegration process, likely through increased shear bonding strengths.

  16. Discrete deposition of hydroxyapatite nanoparticles on a titanium implant with predisposing substrate microtopography accelerated osseointegration

    We report here a new versatile method to deposit discrete hydroxyapatite (HA) nanoparticles on a titanium (Ti) implant with predisposing substrate microtopography, which exhibited an unexpectedly robust biological effect. Commercially pure Ti substrates were treated with 3-aminopropyltriethoxysilane, on which HA nanoparticles (20 nm) were deposited and chemically bonded to TiO2. The HA deposition rate was linearly related to the treatment time and HA nanoparticles were deposited on up to 50% of the substrate surface. As a result, the discrete deposition of HA nanoparticles generated novel 20-40 nm nanotopography on the Ti substrate with microtopography that was smooth (turned) or roughened by double acid etching (DAE). The experimental implants with or without HA nanoparticles were surgically placed in rat femur and an implant push-in test was performed after two weeks of healing. The deposition of HA nanoparticles on the DAE surface increased the mechanical withstanding load by 129% and 782% as compared to the control DAE and turned implants, respectively. Micro-computed tomography-based 3D bone morphometry revealed equivalent bone volumes around the DAE implant with or without HA nanoparticles. These data suggest that the discrete deposition of HA nanoparticles accelerates the early osseointegration process, likely through increased shear bonding strengths

  17. Induced resistance in tomato by SAR activators during predisposing salinity stress

    Matthew Francis Pye

    2013-05-01

    Full Text Available Plant activators are chemicals that induce disease resistance. The phytohormone salicylic acid (SA is a crucial signal for systemic acquired resistance (SAR, and SA-mediated resistance is a target of several commercial plant activators, including Actigard (1,2,3-benzothiadiazole-7-thiocarboxylic acid-s-methyl-ester, BTH and Tiadinil (N-(3-chloro-4-methylphenyl-4-methyl-1,2,3-thiadiazole-5-carboxamide, TDL. BTH and TDL were examined for their impact on abscisic acid (ABA-mediated, salt-induced disease predisposition in tomato seedlings. A brief episode of salt stress to roots significantly increased the severity of disease caused by Pseudomonas syringae pv. tomato (Pst and Phytophthora capsici relative to non-stressed plants. Root treatment with TDL induced resistance to Pst in leaves and provided protection in both non-stressed and salt-stressed seedlings in WT and highly susceptible NahG plants. Non-stressed and salt-stressed ABA-deficient sitiens mutants were highly resistant to Pst. Neither TDL nor BTH induced resistance to root infection by P. capsici, nor did they moderate the salt-induced increment in disease severity. Root treatment with these plant activators increased the levels of ABA in roots and shoots similar to levels observed in salt-stressed plants. The results indicate that SAR activators can protect tomato plants from bacterial speck disease under predisposing salt stress, and suggest that some SA-mediated defense responses function sufficiently in plants with elevated levels of ABA.

  18. Licence applications for low and intermediate level waste predisposal facilities: A manual for operators

    This publication covers all predisposal waste management facilities and practices for receipt, pretreatment (sorting, segregation, characterization), treatment, conditioning, internal relocation and storage of low and intermediate level radioactive waste, including disused sealed radioactive sources. The publication contains an Annex presenting the example of a safety assessment for a small radioactive waste storage facility. Facilities dealing with both short lived and long lived low and intermediate level waste generated from nuclear applications and from operation of small nuclear research reactors are included in the scope. Processing and storage facilities for high activity disused sealed sources and sealed sources containing long lived radionuclides are also covered. The publication does not cover facilities processing or storing radioactive waste from nuclear power plants or any other industrial scale nuclear fuel cycle facilities. Disposal facilities are excluded from the scope of this publication. Authorization process can be implemented in several stages, which may start at the site planning and the feasibility study stage and will continue through preliminary design, final design, commissioning, operation and decommissioning stages. This publication covers primarily the authorization needed to take the facility into operation

  19. Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer

    Sanaz Manteghi

    2016-05-01

    Full Text Available Endosomal sorting complexes required for transport (ESCRT drive cell surface receptor degradation resulting in attenuation of oncogenic signaling and pointing to a tumor suppressor function. Here, we show that loss of function of an ESCRT protein (HD-PTP encoded by the PTPN23 gene, located on the tumor suppressor gene cluster 3p21.3 drives tumorigenesis in vivo. Indeed, Ptpn23+/− loss predisposes mice to sporadic lung adenoma, B cell lymphoma, and promotes Myc-driven lymphoma onset, dissemination, and aggressiveness. Ptpn23+/−-derived tumors exhibit an unaltered remaining allele and maintain 50% of HD-PTP expression. Consistent with the role of HD-PTP in attenuation of integrin recycling, cell migration, and invasion, hemizygous Ptpn23+/− loss increases integrin β1-dependent B cell lymphoma survival and dissemination. Finally, we reveal frequent PTPN23 deletion and downregulation in human tumors that correlates with poor survival. Altogether, we establish HD-PTP/PTPN23 as a prominent haploinsufficient tumor suppressor gene preventing tumor progression through control of integrin trafficking.

  20. CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

    Betti, M; Aspesi, A; Biasi, A; Casalone, E; Ferrante, D; Ogliara, P; Gironi, L C; Giorgione, R; Farinelli, P; Grosso, F; Libener, R; Rosato, S; Turchetti, D; Maffè, A; Casadio, C; Ascoli, V; Dianzani, C; Colombo, E; Piccolini, E; Pavesi, M; Miccoli, S; Mirabelli, D; Bracco, C; Righi, L; Boldorini, R; Papotti, M; Matullo, G; Magnani, C; Pasini, B; Dianzani, I

    2016-08-10

    BAP1 germline mutations predispose to a cancer predisposition syndrome that includes mesothelioma, cutaneous melanoma, uveal melanoma and other cancers. This co-occurrence suggests that these tumors share a common carcinogenic pathway. To evaluate this hypothesis, we studied 40 Italian families with mesothelioma and/or melanoma. The probands were sequenced for BAP1 and for the most common melanoma predisposition genes (i.e. CDKN2A, CDK4, TERT, MITF and POT1) to investigate if these genes may also confer susceptibility to mesothelioma. In two out of six families with both mesothelioma and melanoma we identified either a germline nonsense mutation (c.1153C > T, p.Arg385*) in BAP1 or a recurrent pathogenic germline mutation (c.301G > T, p.Gly101Trp) in CDKN2A. Our study suggests that CDKN2A, in addition to BAP1, could be involved in the melanoma and mesothelioma susceptibility, leading to the rare familial cancer syndromes. It also suggests that these tumors share key steps that drive carcinogenesis and that other genes may be involved in inherited predisposition to malignant mesothelioma and melanoma. PMID:27181379

  1. Incisional Hernia in Women: Predisposing Factors and Management Where Mesh is Not Readily Available

    E Agbakwuru

    2009-01-01

    Full Text Available Background / Aim: Incisional hernia is still relatively common in our practice. The aim of the studywas to identify risk factors associated with incisional hernia in our region. The setting is the ObafemiAwolowo University Teaching Hospitals Complex, Ile-Ife, Nigeria during a period when prostheticmesh was not readily available. Patients and Methods: All the women who presented with incisionalhernia between 1996 and 2005 were prospectively studied using a standard form to obtaininformation on pre-hernia (index operations and possible predisposing factors. They all had opensurgical repair and were followed up for 18-60 months. Results: Forty-four women were treatedduring study period. The index surgeries leading to the hernias were emergency caesarian section26/44 (59.1%, emergency exploratory laparotomy 6/44 (13.6%, and elective surgeries 12/44(27.3%. Major associated risk factors were the use of wrong suture materials for fascia repair, midlineincisions, wound sepsis, and overweight. Conclusion: For elective surgeries, reduction of weightshould be encouraged when appropriate, and transverse incisions are preferred. Absorbable sutures,especially chromic catgut, should be avoided in fascia closure. Antibiotics should be used forcomplicated obstetric cases.

  2. Polymicrogyric Cortex may Predispose to Seizures via Abnormal Network Topology: An fMRI Connectomics Study.

    Sethi, Moksh; Pedersen, Mangor; Jackson, Graeme D

    2016-03-01

    Polymicrogyria is a significant malformation of cortical development with a high incidence of epilepsy and cognitive deficits. Graph theoretic analysis is a useful approach to studying network organization in brain disorders. In this study, we used task-free functional magnetic resonance imaging (fMRI) data from four patients with polymicrogyria and refractory epilepsy. Gray matter masks from structural MRI data were parcellated into 1,024 network nodes. Functional "connectomes" were obtained based on fMRI time series between the parcellated network nodes; network analysis was conducted using clustering coefficient, path length, node degree, and participation coefficient. These graph metrics were compared between nodes within polymicrogyric cortex and normal brain tissue in contralateral homologous cortical regions. Polymicrogyric nodes showed significantly increased clustering coefficient and characteristic path length. This is the first study using functional connectivity analysis in polymicrogyria-our results indicate a shift toward a regular network topology in polymicrogyric nodes. Regularized network topology has been demonstrated previously in patients with focal epilepsy and during focal seizures. Thus, we postulate that these network alterations predispose to seizures and may be relevant to cognitive deficits in patients with polymicrogyria. PMID:26763051

  3. A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.

    Lorenzato, Annalisa; Olivero, Martina; Perro, Mario; Brière, Jean Jacques; Rustin, Pierre; Di Renzo, Maria Flavia

    2008-02-15

    The Fumarase (Fumarate Hydratase, FH) is a tumor suppressor gene whose germline heterozygous mutations predispose to hereditary leiomyomatosis and renal cell cancer (HLRCC). The FH gene encodes an enzyme of the Krebs cycle, functioning as a homotetramer and catalyzing the hydration of fumarate to malate. Among the numerous FH mutations reported so far, the R190H missense mutation is the most frequent in HLRCC patients. Here we show the functional analyses of the R190H, in comparison to the better characterized E319Q mutation. We first expressed wild-type and mutated proteins in FH deficient human skin fibroblasts, using lentiviral vectors. The wild-type transgene was able to restore the FH enzymatic activity in cells, while the R190H- and E319Q-FH were not. More interestingly, when the same transgenes were expressed in normal, FH-proficient cells, only the R190H-FH reduced the endogenous FH enzymatic activity. By enforcing the expression of equal amount of wild-type and R190H-FH in the same cell, we showed that the mutated FH protein directly inhibited enzymatic activity by nearly abrogating the FH homotetramer formation. These data demonstrate the dominant negative effect of the R190H missense mutation in the FH gene and suggest that the FH tumor-suppressing activity might be impaired in cells carrying a heterozygous mutation. PMID:17960613

  4. Childhood CT scans and cancer risk: impact of predisposing factors for cancer on the risk estimates.

    Journy, N; Roué, T; Cardis, E; Le Pointe, H Ducou; Brisse, H; Chateil, J-F; Laurier, D; Bernier, M-O

    2016-03-01

    To investigate the role of cancer predisposing factors (PFs) on the associations between paediatric computed tomography (CT) scan exposures and subsequent risk of central nervous system (CNS) tumours and leukaemia. A cohort of children who underwent a CT scan in 2000-2010 in 23 French radiology departments was linked with the national childhood cancers registry and national vital status registry; information on PFs was retrieved through hospital discharge databases. In children without PF, hazard ratios of 1.07 (95% CI 0.99-1.10) for CNS tumours (15 cases) and 1.16 (95% CI 0.77-1.27) for leukaemia (12 cases) were estimated for each 10 mGy increment in CT x-rays organ doses. These estimates were similar to those obtained in the whole cohort. In children with PFs, no positive dose-risk association was observed, possibly related to earlier non-cancer mortality in this group. Our results suggest a modifying effect of PFs on CT-related cancer risks, but need to be confirmed by longer follow-up and other studies. PMID:26878249

  5. Perceptions of predisposing and protective factors for perinatal depression in same-sex parents.

    Ross, Lori E; Steele, Leah; Sapiro, Beth

    2005-01-01

    Increasing numbers of women are choosing to have children in the context of same-sex relationships or as "out" lesbian or bisexual individuals. This study used qualitative methods to assess perceived predisposing and protective factors for perinatal depression in lesbian, gay, bisexual, and queer (LGBQ) women. Two focus groups with LGBQ women were conducted: 1) biological parents of young children and 2) nonbiological parents of young children or whose partners were currently pregnant. Three major themes emerged. Issues related to social support were primary, particularly related to disappointment with the lack of support provided by members of the family of origin. Participants also described issues related to the couple relationship, such as challenges in negotiating parenting roles. Finally, legal and policy barriers (e.g., second parent adoption) were identified as a significant source of stress during the transition to parenthood. Both lack of social support and relationship problems have previously been identified as risk factors for perinatal depression in heterosexual women, and legal and policy barriers may represent a unique risk factor for this population. Therefore, additional study of perinatal mental health among LGBQ women is warranted. PMID:16260356

  6. A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers.

    Lauren G Aoude

    Full Text Available Truncating germline mutations in the tumor suppressor gene BRCA-1 associated protein-1 (BAP1 have been reported in families predisposed to developing a wide range of different cancer types including uveal melanoma and cutaneous melanoma. There has also been an association between amelanotic tumor development and germline BAP1 mutation suggesting a possible phenotypic characteristic of BAP1 mutation carriers. Though there have been many types of cancer associated with germline BAP1 mutation, the full spectrum of disease association is yet to be ascertained. Here we describe a Danish family with predominantly uveal melanoma but also a range of other tumor types including lung, neuroendocrine, stomach, and breast cancer; as well as pigmented skin lesions. Whole-exome sequencing identified a BAP1 splice mutation located at c.581-2A>G, which leads to a premature truncation of BAP1 in an individual with uveal melanoma. This mutation was carried by several other family members with melanoma or various cancers. The finding expands on the growing profile of BAP1 as an important uveal and cutaneous melanoma tumor suppressor gene and implicates its involvement in the development of lung, and stomach cancer.

  7. Predisposing factors for renal scarring in children with urinary tract infection

    Fatemeh Beiraghdar

    2012-01-01

    Full Text Available This study was undertaken to determine the predisposing factors for renal scarring in children with urinary tract infection. In this prospective cohort study, 176 children with documented urinary tract infection were categorized into four groups: ≤1 year old, 1-2 years old, 2-7 years and 7-14 years old. Ultrasonography and Technetium-99 m-DMSA scan were used to detect the possible abnormalities. Infants under 12 months old presented as the most common group for renal scarring (27 cases, 52.9%, and vesicoureteral reflux (VUR was diagnosed in 29 cases (56.8%. Fifteen (41.67% children between the ages of one and two years had renal scar, and VUR was detected in half of the patients. In the third group, 36.3%, and in fourth group, 41.6% of the patients had renal scar. Also, 38.6% in group three and 50% in the final group had VUR. A co-incidental finding that was observed in this study was the high incidence of pseudohypoaldesteronism (PHA in our patients: in 39.2% of the children in group one, 22.2% in group two and 4% in group three. In group four however, none of the patients had PHA. Risk of scar formation with urinary tract infection (UTI was higher in the younger age group and in those with recurrent UTIs.

  8. Anatomical variations of paranasal sinuses at multislice computed tomography: what to look for

    Miranda, Christiana Maia Nobre Rocha de; Maranhao, Carol Pontes de Miranda [Clinica de Medicina Nuclear e Radiologia de Maceio (Medradius), Maceio, AL (Brazil). Setor de Tomografia Computadorizada; Arraes, Fabiana Maia Nobre Rocha [Clinica Sinus, Maceio, AL (Brazil); Padilha, Igor Gomes; Farias, Lucas de Padua Gomes de; Jatoba, Mayara Stephanie de Araujo; Andrade, Anna Carolina Mendonca de; Padilha, Bruno Gomes [Universidade Federal de Alagoas (UFAL), Maceio, AL (Brazil)

    2011-07-15

    Multislice computed tomography is currently the imaging modality of choice for evaluating paranasal sinuses and adjacent structures. Such a method has been increasingly utilized in the assessment of anatomical variations, allowing their accurate identification with high anatomical details. Some anatomical variations may predispose to sinusal diseases, constituting areas of high risk for injuries and complications during surgical procedures. Therefore, the recognition of such variations is critical in the preoperative evaluation for endoscopic surgery. (author)

  9. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

    Yokoyama, Satoru; Woods, Susan L.; Boyle, Glen M.; Aoude, Lauren G.; MacGregor, Stuart; Zismann, Victoria; Gartside, Michael; Cust, Anne E.; Haq, Rizwan; Harland, Mark; Taylor, John C.; Duffy, David L.; Holohan, Kelly; Dutton-Regester, Ken; Palmer, Jane M.; Bonazzi, Vanessa; Stark, Mitchell S.; Symmons, Judith; Law, Matthew H.; Schmidt, Christopher; Lanagan, Cathy; O’Connor, Linda; Holland, Elizabeth A.; Schmid, Helen; Maskiell, Judith A.; Jetann, Jodie; Ferguson, Megan; Jenkins, Mark A.; Kefford, Richard F.; Giles, Graham G.; Armstrong, Bruce K.; Aitken, Joanne F.; Hopper, John L.; Whiteman, David C.; Pharoah, Paul D.; Easton, Douglas F.; Dunning, Alison M.; Newton-Bishop, Julia A.; Montgomery, Grant W.; Martin, Nicholas G.; Mann, Graham J.; Bishop, D. Timothy; Tsao, Hensin; Trent, Jeffrey M.; Fisher, David E.; Hayward, Nicholas K.; Brown, Kevin M.

    2012-01-01

    So far, two familial melanoma genes have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases1, and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds2. To identify other familial melanoma genes, here we conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (coding DNA sequence c.G1075A; protein sequence p.E318K; rs149617956) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF). Although the variant co-segregated with melanoma in some but not all cases in the family, linkage analysis of 31 families subsequently identified to carry the variant generated a log odds ratio (lod) score of 2.7 under a dominant model, indicating E318K as a possible intermediate risk variant. Consistent with this, the E318K variant was significantly associated with melanoma in a large Australian case–control sample. Likewise, it was similarly associated in an independent case–control sample from the United Kingdom. In the Australian sample, the variant allele was significantly over-represented in cases with a family history of melanoma, multiple primary melanomas, or both. The variant allele was also associated with increased naevus count and non-blue eye colour. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. These data indicate that MITF is a melanoma-predisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility. PMID:22080950

  10. Fumonisins affect the intestinal microbial homeostasis in broiler chickens, predisposing to necrotic enteritis.

    Antonissen, Gunther; Croubels, Siska; Pasmans, Frank; Ducatelle, Richard; Eeckhaut, Venessa; Devreese, Mathias; Verlinden, Marc; Haesebrouck, Freddy; Eeckhout, Mia; De Saeger, Sarah; Antlinger, Birgit; Novak, Barbara; Martel, An; Van Immerseel, Filip

    2015-01-01

    Fumonisins (FBs) are mycotoxins produced by Fusarium fungi. This study aimed to investigate the effect of these feed contaminants on the intestinal morphology and microbiota composition, and to evaluate whether FBs predispose broilers to necrotic enteritis. One-day-old broiler chicks were divided into a group fed a control diet, and a group fed a FBs contaminated diet (18.6 mg FB1+FB2/kg feed). A significant increase in the plasma sphinganine/sphingosine ratio in the FBs-treated group (0.21 ± 0.016) compared to the control (0.14 ± 0.014) indicated disturbance of the sphingolipid biosynthesis. Furthermore, villus height and crypt depth of the ileum was significantly reduced by FBs. Denaturing gradient gel electrophoresis showed a shift in the microbiota composition in the ileum in the FBs group compared to the control. A reduced presence of low-GC containing operational taxonomic units in ileal digesta of birds exposed to FBs was demonstrated, and identified as a reduced abundance of Candidatus Savagella and Lactobaccilus spp. Quantification of total Clostridium perfringens in these ileal samples, previous to experimental infection, using cpa gene (alpha toxin) quantification by qPCR showed an increase in C. perfringens in chickens fed a FBs contaminated diet compared to control (7.5 ± 0.30 versus 6.3 ± 0.24 log10 copies/g intestinal content). After C. perfringens challenge, a higher percentage of birds developed subclinical necrotic enteritis in the group fed a FBs contaminated diet as compared to the control (44.9 ± 2.22% versus 29.8 ± 5.46%). PMID:26394675

  11. Urine Stasis Predisposes to Urinary Tract Infection by an Opportunistic Uropathogen in the Megabladder (Mgb Mouse.

    Brian Becknell

    Full Text Available Urinary stasis is a risk factor for recurrent urinary tract infection (UTI. Homozygous mutant Megabladder (Mgb-/- mice exhibit incomplete bladder emptying as a consequence of congenital detrusor aplasia. We hypothesize that this predisposes Mgb-/- mice to spontaneous and experimental UTI.Mgb-/-, Mgb+/-, and wild-type female mice underwent serial ultrasound and urine cultures at 4, 6, and 8 weeks to detect spontaneous UTI. Urine bacterial isolates were analyzed by Gram stain and speciated. Bladder stones were analyzed by x-ray diffractometry. Bladders and kidneys were subject to histologic analysis. The pathogenicity of coagulase-negative Staphylococcus (CONS isolated from Mgb-/- urine was tested by transurethral administration to culture-negative Mgb-/- or wild-type animals. The contribution of urinary stasis to CONS susceptibility was evaluated by cutaneous vesicostomy in Mgb-/- mice.Mgb-/- mice develop spontaneous bacteriuria (42% and struvite bladder stones (31% by 8 weeks, findings absent in Mgb+/- and wild-type controls. CONS was cultured as a solitary isolate from Mgb-/- bladder stones. Bladders and kidneys from mice with struvite stones exhibit mucosal injury, inflammation, and fibrosis. These pathologic features of cystitis and pyelonephritis are replicated by transurethral inoculation of CONS in culture-negative Mgb-/- females, whereas wild-type animals are less susceptible to CONS colonization and organ injury. Cutaneous vesicostomy prior to CONS inoculation significantly reduces the quantity of CONS recovered from Mgb-/- urine, bladders, and kidneys.CONS is an opportunistic uropathogen in the setting of urinary stasis, leading to enhanced UTI incidence and severity in Mgb-/- mice.

  12. Astroglia overexpressing heme oxygenase-1 predispose co-cultured PC12 cells to oxidative injury.

    Song, Linyang; Song, Wei; Schipper, Hyman M

    2007-08-01

    The mechanisms responsible for the progressive degeneration of dopaminergic neurons and pathologic iron deposition in the substantia nigra pars compacta of patients with Parkinson's disease (PD) remain unclear. Heme oxygenase-1 (HO-1), the rate-limiting enzyme in the oxidative degradation of heme to ferrous iron, carbon monoxide, and biliverdin, is upregulated in affected PD astroglia and may contribute to abnormal mitochondrial iron sequestration in these cells. To determine whether glial HO-1 hyper-expression is toxic to neuronal compartments, we co-cultured dopaminergic PC12 cells atop monolayers of human (h) HO-1 transfected, sham-transfected, or non-transfected primary rat astroglia. We observed that PC12 cells grown atop hHO-1 transfected astrocytes, but not the astroglia themselves, were significantly more susceptible to dopamine (1 microM) + H(2)O(2) (1 microM)-induced death (assessed by nuclear ethidium monoazide bromide staining and anti-tyrosine hydroxylase immunofluorescence microscopy) relative to control preparations. In the experimental group, PC12 cell death was attenuated significantly by the administration of the HO inhibitor, SnMP (1.5 microM), the antioxidant, ascorbate (200 microM), or the iron chelators, deferoxamine (400 microM), and phenanthroline (100 microM). Exposure to conditioned media derived from HO-1 transfected astrocytes also augmented PC12 cell killing in response to dopamine (1 microM) + H(2)O(2) (1 microM) relative to control media. In PD brain, overexpression of HO-1 in nigral astroglia and accompanying iron liberation may facilitate the bioactivation of dopamine to neurotoxic free radical intermediates and predispose nearby neuronal constituents to oxidative damage. PMID:17526019

  13. 痤疮易感基因的研究进展%Predisposing genes in acne

    杨小燕; 何黎

    2011-01-01

    痤疮是发生于毛囊皮脂腺的一种慢性炎症性疾病,发病机制尚不完全清楚.目前认为,主要与雄激素、皮脂分泌增多、毛囊导管的异常角化、痤疮丙酸杆菌感染、外界因素、机体的免疫反应和遗传有关.近年来研究表明,痤疮是一种多基因遗传病,尤其是重型痤疮与遗传密切相关.CYP11α、CYP17、CYP1A1、雄激素受体基因、CYP21等基因被认为是痤疮易感基因.因此,探讨痤疮的易感基因,对痤疮尤其是重型痤疮的早期诊断、治疗和预防具有重要意义.%Acne is a common chronic inflammatory disease affecting hair follicles and sebaceous glands with unclear pathogenesis. It is a multifactorial disease and several pathogenetic factors have been identified, including the increase of androgen and sebum excretion, follicular hyperkeratinization, infection with Propionibacterium acnes, external factors, innate immunity, genetics, etc. Latest studies have indicated that acne is a polygenic disease and there is a particularly close correlation between severe acne and heredity. Many predisposing genes have been discovered for acne, including human CYP11α gene, CYP17 gene, CYP1A1gene, androgen receptor gene, CYP21 gene, etc. Therefore, the investigation into susceptible genes for acne may be beneficial to the early diagnosis, treatment and prevention of severe acne.

  14. MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

    Pellegrini Cristina

    2012-09-01

    Full Text Available Abstract Background Concomitant primary cutaneous melanoma in monozygotic twins has been reported in only two pairs but in neither of them genetic analysis was performed. Two high-penetrance susceptibility genes, CDKN2A and CDK4 and one low-penetrance gene, MC1R, are well-defined genetic risk factors for melanoma. MITF has been recently identified as a novel intermediate risk melanoma-predisposing gene. Case presentation We describe the extraordinary occurrence of a primary cutaneous invasive melanoma in two 44-year-old identical, female twins, on the same body site within 30 days of each other and report for the first time the genetic analysis of melanoma susceptibility genes in both twins. Data on characteristics of the twins were collected through a standardized questionnaire and skin examination. Exons 1α, 1β, 2 and 3 of CDKN2A, exon 2 of CDK4, the entire open reading frame of MC1R and the recently described MITF c.952 G > A (p.Glu318Lys variant were investigated by direct sequencing. Sequencing analysis of the high-penetrance susceptibility genes showed no changes in CDKN2A and in exon 2 of the CDK4 gene. Both patients were heterozygous for the same CDKN2A UTR c.*29C > G variant. Interestingly, the same two heterozygous variants of the MC1R were identified in both twins: the c.451C > T (p.Arg151Cys and the c.456C > A (p.Tyr152* variants. Neither patient showed the c.952 G > A (p.Glu318Lys substitution in the MITF gene. Conclusions Identification of two high-risk MC1R variants in our identical twins in the absence of CDKN2A and CDK4 mutations highlights the contribution of low penetrance genes, such as MC1R, in melanoma susceptibility.

  15. CARDIAC RUPTURE IN MYOCARDIAL INFARCTION: INCIDENCE AND PREDISPOSING FACTORS (15 YEAR FOLLOW-UP

    V. A. Shulman

    2015-12-01

    Full Text Available Aim. To evaluate the incidence of cardiac rupture (CR in patients with acute myocardial infarction (MI as well as predisposing factors during 15-year follow-up.Material and methods. 1453 patients with acute MI who were admitted to Krasnoyarsk cardiological center during 1989, 1993 and 2003 years were studied. All patients were divided into three groups: group I - 447 patients, who were on treatment in 1989, group II - 475 patients of 1993, and group III – 531 patients of 2003. There were no differences in groups on patient sex, location and depth of MI, previous MI, arrhythmias, heart failure and diabetes mellitus.Results. CR was found in 18 of 447 patients (4% of group I (1989, in 16 of 475 patients (3,4% of group II (1993 and in 10 of 531 patients (1,9% of group 3 (2003, (p1,3 <0,05. Incidence of CR significantly decreased from 1989 to 2003 in female patients (7,2%; 5,7% and 1,6% in 1989, 1993 and 2003, respectively; p1,3 < 0,01, p2,3 < 0,05. Incidence of CR in male patients didn’t changed (2,5%, 1,8% and 2,1%, respectively. The average blood pressure (BP during the first day of MI in female patients was higher than this in male ones in 1989 and 1993. There were no significant differences in BP between women and men in 2003. Heart rate (HR during the first day of MI in female patients was higher than this in male patients in 1989. However in 1993 and 2003 there were no differences in HR between women and men. MI therapy more often included betablockers, angiotensin converting enzyme inhibitors, intravenous nitrates, statins, thrombolythics and anticoagulants in 2003 than in 1989 and 1993.Conclusion. Effective BP and HR control is the most effective way to prevent CR in patients with MI.

  16. Disruption of Vitamin D and Calcium Signaling in Keratinocytes Predisposes to Skin Cancer

    Bikle, Daniel D.; Jiang, Yan; Nguyen, Thai; Oda, Yuko; Tu, Chia-ling

    2016-01-01

    1,25 dihydroxyvitamin D (1,25(OH)2D), the active metabolite of vitamin D, and calcium regulate epidermal differentiation. 1,25(OH)2D exerts its effects through the vitamin D receptor (VDR), a transcription factor in the nuclear hormone receptor family, whereas calcium acts through the calcium sensing receptor (Casr), a membrane bound member of the G protein coupled receptor family. We have developed mouse models in which the Vdr and Casr have been deleted in the epidermis (epidVdr−∕− and epidCasr−∕−). Both genotypes show abnormalities in calcium induced epidermal differentiation in vivo and in vitro, associated with altered hedgehog (HH) and β–catenin signaling that when abnormally expressed lead to basal cell carcinomas (BCC) and trichofolliculomas, respectively. The Vdr−∕− mice are susceptible to tumor formation following UVB or chemical carcinogen exposure. More recently we found that the keratinocytes from these mice over express long non-coding RNA (lncRNA) oncogenes such as H19 and under express lncRNA tumor suppressors such as lincRNA-21. Spontaneous tumors have not been observed in either the epidVdr−∕− or epidCasr−∕−. But in mice with epidermal specific deletion of both Vdr and Casr (epidVdr−∕−/epidCasr−∕− [DKO]) tumor formation occurs spontaneously when the DKO mice are placed on a low calcium diet. These results demonstrate important interactions between vitamin D and calcium signaling through their respective receptors that lead to cancer when these signals are disrupted. The roles of the β–catenin, hedgehog, and lncRNA pathways in predisposing the epidermis to tumor formation when vitamin D and calcium signaling are disrupted will be discussed. PMID:27462278

  17. Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort.

    Jane E Salmon

    2011-03-01

    Full Text Available BACKGROUND: Pregnancy in women with systemic lupus erythematosus (SLE or antiphospholipid antibodies (APL Ab--autoimmune conditions characterized by complement-mediated injury--is associated with increased risk of preeclampsia and miscarriage. Our previous studies in mice indicate that complement activation targeted to the placenta drives angiogenic imbalance and placental insufficiency. METHODS AND FINDINGS: We use PROMISSE, a prospective study of 250 pregnant patients with SLE and/or APL Ab, to test the hypothesis in humans that impaired capacity to limit complement activation predisposes to preeclampsia. We sequenced genes encoding three complement regulatory proteins--membrane cofactor protein (MCP, complement factor I (CFI, and complement factor H (CFH--in 40 patients who had preeclampsia and found heterozygous mutations in seven (18%. Five of these patients had risk variants in MCP or CFI that were previously identified in atypical hemolytic uremic syndrome, a disease characterized by endothelial damage. One had a novel mutation in MCP that impairs regulation of C4b. These findings constitute, to our knowledge, the first genetic defects associated with preeclampsia in SLE and/or APL Ab. We confirmed the association of hypomorphic variants of MCP and CFI in a cohort of non-autoimmune preeclampsia patients in which five of 59 were heterozygous for mutations. CONCLUSION: The presence of risk variants in complement regulatory proteins in patients with SLE and/or APL Ab who develop preeclampsia, as well as in preeclampsia patients lacking autoimmune disease, links complement activation to disease pathogenesis and suggests new targets for treatment of this important public health problem. STUDY REGISTRATION: ClinicalTrials.gov NCT00198068.

  18. Early severe inflammatory responses to uropathogenic E. coli predispose to chronic and recurrent urinary tract infection.

    Thomas J Hannan

    Full Text Available Chronic infections are an increasing problem due to the aging population and the increase in antibiotic resistant organisms. Therefore, understanding the host-pathogen interactions that result in chronic infection is of great importance. Here, we investigate the molecular basis of chronic bacterial cystitis. We establish that introduction of uropathogenic E. coli (UPEC into the bladders of C3H mice results in two distinct disease outcomes: resolution of acute infection or development of chronic cystitis lasting months. The incidence of chronic cystitis is both host strain and infectious dose-dependent. Further, development of chronic cystitis is preceded by biomarkers of local and systemic acute inflammation at 24 hours post-infection, including severe pyuria and bladder inflammation with mucosal injury, and a distinct serum cytokine signature consisting of elevated IL-5, IL-6, G-CSF, and the IL-8 analog KC. Mice deficient in TLR4 signaling or lymphocytes lack these innate responses and are resistant, to varying degrees, to developing chronic cystitis. Treatment of C3H mice with the glucocorticoid anti-inflammatory drug dexamethasone prior to UPEC infection also suppresses the development of chronic cystitis. Finally, individuals with a history of chronic cystitis, lasting at least 14 days, are significantly more susceptible to redeveloping severe, chronic cystitis upon bacterial challenge. Thus, we have discovered that the development of chronic cystitis in C3H mice by UPEC is facilitated by severe acute inflammatory responses early in infection, which subsequently are predisposing to recurrent cystitis, an insidious problem in women. Overall, these results have significant implications for our understanding of how early host-pathogen interactions at the mucosal surface determines the fate of disease.

  19. Perinatal iron deficiency predisposes the developing rat hippocampus to greater injury from mild to moderate hypoxia-ischemia

    Rao, Raghavendra; Tkac, Ivan; Townsend, Elise L.; Ennis, Kathleen; Gruetter, Rolf; Georgieff, Michael K.

    2007-01-01

    The hippocampus is injured in both hypoxia-ischemia (HI) and perinatal iron deficiency that are co-morbidities in infants of diabetic mothers and intrauterine growth restricted infants. We hypothesized that preexisting perinatal iron deficiency predisposes the hippocampus to greater injury when exposed to a relatively mild HI injury. Iron-sufficient and iron-deficient rats (hematocrit 40% lower and brain iron concentration 55% lower) were subjected to unilateral HI injury of 15, 30, or 45 min...

  20. Upper respiratory tract diseases in captive orangutans (Pongo abelii, Pongo pygmaeus): prevalence in 20 European zoos and possible predisposing factors

    Zimmermann, N.

    2011-01-01

    Chronic upper respiratory tract diseases are severe problems in captive orangutans (Pongo abelii, P. pygmaeus), but the etiology and pathogenesis are unknown. This study recorded the prevalence of such diseases in captive European orangutans (201 animals; 20 zoos) and investigated possible predisposing factors. Bornean orangutans (P. pygmaeus) showed chronic respiratory signs (13.8% of all animals) significantly more often than Sumatran (P. abelii; 3.6%), and male animals more often (15.8%) t...

  1. Characterization of Proteinuria in Dogue de Bordeaux Dogs, a Breed Predisposed to a Familial Glomerulonephropathy: A Retrospective Study

    Trumel, Catherine; Smets, Pascale M. Y.; Braun, Jean-Pierre; Aresu, Luca; Daminet, Sylvie; Concordet, Didier; Palanche, Florence; Peeters, Dominique

    2015-01-01

    Dogue de Bordeaux dog has been reported to be predisposed to a familial glomerulonephropathy that displays some morphological modifications reported in focal and segmental glomerulosclerosis. Prevalence of quantitatively abnormal renal proteinuria was recently reported to be 33% in this breed. The nature of the proteinuria was assessed by sodium dodecyl sulfate-agarose gel electrophoresis and determinations of urinary markers (urinary retinol-binding protein, urinary N-acetyl-beta-glucosamini...

  2. Adipocyte Hypertrophy, Inflammation and Fibrosis Characterize Subcutaneous Adipose Tissue of Healthy, Non-Obese Subjects Predisposed to Type 2 Diabetes

    A M Josefin Henninger; Björn Eliasson; Jenndahl, Lachmi E.; Ann Hammarstedt

    2014-01-01

    BACKGROUND: The adipose tissue is important for development of insulin resistance and type 2 diabetes and adipose tissue dysfunction has been proposed as an underlying cause. In the present study we investigated presence of adipocyte hypertrophy, and gene expression pattern of adipose tissue dysfunction in the subcutaneous adipose tissue of healthy, non-obese subjects predisposed to type 2 diabetes compared to matched control subjects with no known genetic predisposition for type 2 diabetes. ...

  3. Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial

    Manchanda, R.; Loggenberg, K.; Sanderson, S.; Burnell, M.; Wardle, J; Gessler, S.; Side, L.; Balogun, N.; Desai, R; Kumar, A.; Dorkins, H.; Wallis, Y; Chapman, C; Taylor, R.; Jacobs, C.

    2015-01-01

    Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages. We directly compared the psychological/quality-of-life consequences of such an approach to family history (FH)–based testing. Methods: In a randomized controlled trial of BRCA1/2 gene-mutation testing in the Ashkenazi Jewish (AJ) population, we compared testing all participants in the population ...

  4. Predisposing Factors for Mucormycosis in Patients with Diabetes Mellitus; An Experience of 21 Years in Southern Iran

    Sarvestani, Amene S.; Gholamreza Pishdad; Shahram Bolandparvaz

    2013-01-01

    Objectives: To determine the prevalence and predisposing factors of mucormycosis in patients with diabetes mellitus (DM) in a Shiraz referral centers.Methods: This retrospective case control study, reviewed the medical records of 162 patients with pathologically confirmed diagnosis of mucormycosis hospitalized in two major Shiraz University hospitals during the last 21 years. For each diabetic patient, two patients with diabetic ketoacidosis (DKA) matched for age, sex and the date of admissio...

  5. Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?

    Lener, Marcin R; Scott, Rodney J; Kluźniak, Wojciech; Baszuk, Piotr; Cybulski, Cezary; Wiechowska-Kozłowska, Anna; Huzarski, Tomasz; Byrski, Tomasz; Kładny, Józef; Pietrzak, Sandra; Soluch, Agnieszka; Jakubowska, Anna; Lubiński, Jan

    2016-08-01

    Understanding of the etiology and risk of pancreatic cancer (PaCa) is still poorly understood. This study evaluated the prevalence of 10 Polish founder mutations in four genes among PaCa patients and assessed their possible association with the risk of disease in Poland. In the study 383 PaCa patients and 4,000 control subjects were genotyped for founder mutations in: BRCA1 (5382insC, 4153delA, C61G), CHEK2 (1100delC, IVS2 + 1G > A, del5395, I157T), NBS1 (657del5) and PALB2 (509_510delGA, 172_175delTTGT). A statistically significant association between the 657del5 mutation and an increased risk of pancreatic cancer was observed for NBS1 gene. The Slavic NBS1 gene mutation (657delACAAA) was detected in 8 of 383 (2.09%) unselected cases compared with 22 of 4,000 (0.55%) controls (OR: 3.80, p = 0.002). The PALB2 509_510delGA and 172_175delTTGT mutations combined were seen in 2 (0.52%) unselected cases of PaCa and in 8 (0.20%) of 4,000 controls (OR: 2.61, p = 0.49). For BRCA1, the three mutations combined were detected in 4 of 383 (1.04%) PaCa patients and in 17 of 4,000 (0.42%) controls (OR: 2.46, p = 0.20). CHEK2 mutations were not associated with the risk of pancreatic cancer (OR: 1.11, p = 0.72). The founder mutation in NBS1 (657del5) was associated with an increased risk of PaCa in heterozygous carriers, indicating that this mutation appears to predispose to cancer of the pancreas. By identifying pancreatic cancer risk groups, founder mutation testing in Poland should be considered for people at risk for PaCa. PMID:27038244

  6. Two necrotic enteritis predisposing factors, dietary fishmeal and Eimeria infection, induce large changes in the caecal microbiota of broiler chickens.

    Wu, Shu-Biao; Stanley, Dragana; Rodgers, Nicholas; Swick, Robert A; Moore, Robert J

    2014-03-14

    It is widely established that a high-protein fishmeal supplemented starter diet and Eimeria infection can predispose birds to the development of clinical necrotic enteritis symptoms following Clostridium perfringens infection. However, it has not been clearly established what changes these treatments cause to predispose birds to succumb to necrotic enteritis. We analysed caecal microbiota of 4 groups of broilers (n=12) using deep pyrosequencing of 16S rDNA amplicons: (1) control chicks fed a control diet, (2) Eimeria infected chicks fed control diet, (3) chicks fed fishmeal supplemented diet and lastly (4) both fishmeal fed and Eimeria infected chicks. We found that the high-protein fishmeal diet had a strong effect on the intestinal microbiota similar to the previously reported effect of C. perfringens infection. We noted major changes in the prevalence of various lactobacilli while the total culturable Lactobacillus counts remained stable. The Ruminococcaceae, Lachnospiraceae, unknown Clostridiales and Lactobacillaceae families were most affected by fishmeal with increases in a number of operational taxonomic units (OTUs) that had previously been linked to Crohn's disease and reductions in OTUs known to be butyrate producers. Eimeria induced very different changes in microbiota; Ruminococcaceae groups were reduced in number and three unknown Clostridium species were increased in abundance. Additionally, Eimeria did not significantly influence changes in pH, formic, propionic or isobutyric acid while fishmeal induced dramatic changes in all these measures. Both fishmeal feeding and Eimeria infection induced significant changes in the gut microbiota; these changes may play an important role in predisposing birds to necrotic enteritis. PMID:24522272

  7. Absence of the predisposing factors and signs and symptoms usually associated with overreaching and overtraining in physical fitness centers

    Carolina Ackel-D'Elia

    2010-01-01

    Full Text Available OBJECTIVE: The aim of this study was to evaluate the occurrence of the well-known predisposing factors and signs and symptoms usually associated with either overreaching or overtraining syndrome in physical fitness centers in São Paulo City, Brazil. METHOD: A questionnaire consisting of 13 question groups pertaining to either predisposing factors (1-7 or signs and symptoms (8-13 was given to 413 subjects. The general training schedule of the volunteers was characterized by workout sessions of 2.18 ± 0.04 h for a total of 11.0 ± 0.3 h/week for 33 ± 2 months independent of the type of exercise performed (walking, running, spinning, bodybuilding and stretching. A mean score was calculated ranging from 1 (completely absent to 5 (severe for each question group. A low occurrence was considered to be a question group score lower than 4, which was observed in all 13 question groups. RESULTS: The psychological evaluation by POMS Mood State Questionnaire indicated a normal non-inverted iceberg. The hematological parameters, creatine kinase activity, cortisol, total testosterone and free testosterone concentrations were within the normal ranges for the majority of the volunteers selected for this analysis (n = 60. CONCLUSION: According to the questionnaire score analysis, no predisposing factors or signs and symptoms usually associated with either overreaching or overtraining were detected among the members of physical fitness centers in São Paulo City, Brazil. This observation was corroborated by the absence of any significant hematological or stress hormone level alterations in blood analyses of the majority of the selected volunteers (n = 60.

  8. Neonatal Bacterial Colonization Predispose to Lower Respiratory Infections in Early Childhood

    Vissing, Nadja Hawwa

    2014-01-01

    , the variation has been explained by environmental exposures such as day care attendance, breastfeeding, crowding, siblings, tobacco smoke exposure, low socioeconomic status, and male sex, but these risk factors only explain a minor proportion of the variation. Confidence in the results is hampered by...... association between neonatal airway colonization and risk of the LRI in a validated study cohort, and whether a possible association could be reflected in the early immune response to airway pathogens. In study I we aimed to ascertain the quality of information on child’s health, including asthma, allergy...... characterized by perturbed production of several cytokines, rather than production of one specific cytokine, and was independent of concurrent asthma. This suggests that children at risk of future LRI present a distinct systemic immune response upon exposure to common airway pathogens in early life, possibly...

  9. Factors Predisposing to Early Childhood Caries (ECC) in Children of Pre-School Age in the City of Zagreb, Croatia

    Lulić-Dukić, O.; Jurić, H.; Dukić, W.; Glavina, D.

    2001-01-01

    The aim of this study was to investigate factors predisposing to early childhood caries (ECC) in pre-school children in the city of Zagreb, Croatia. The investigation was carried out on the sample of 145 children (77 boys and 68 girls) aged between 2 and 5 years, including clinical examination of dental status and survey on the habits among the parents. The overall prevalence of ECC was 30%: in girls it was 25%, and in boys 48%. The study on the risk factors was designed as a c...

  10. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.

    Corradi, Anna; Fadda, Manuela; Piton, Amélie; Patry, Lysanne; Marte, Antonella; Rossi, Pia; Cadieux-Dion, Maxime; Gauthier, Julie; Lapointe, Line; Mottron, Laurent; Valtorta, Flavia; Rouleau, Guy A; Fassio, Anna; Benfenati, Fabio; Cossette, Patrick

    2014-01-01

    An increasing number of genes predisposing to autism spectrum disorders (ASDs) has been identified, many of which are implicated in synaptic function. This 'synaptic autism pathway' notably includes disruption of SYN1 that is associated with epilepsy, autism and abnormal behavior in both human and mice models. Synapsins constitute a multigene family of neuron-specific phosphoproteins (SYN1-3) present in the majority of synapses where they are implicated in the regulation of neurotransmitter release and synaptogenesis. Synapsins I and II, the major Syn isoforms in the adult brain, display partially overlapping functions and defects in both isoforms are associated with epilepsy and autistic-like behavior in mice. In this study, we show that nonsense (A94fs199X) and missense (Y236S and G464R) mutations in SYN2 are associated with ASD in humans. The phenotype is apparent in males. Female carriers of SYN2 mutations are unaffected, suggesting that SYN2 is another example of autosomal sex-limited expression in ASD. When expressed in SYN2  knockout neurons, wild-type human Syn II fully rescues the SYN2 knockout phenotype, whereas the nonsense mutant is not expressed and the missense mutants are virtually unable to modify the SYN2 knockout phenotype. These results identify for the first time SYN2  as a novel predisposing gene for ASD and strengthen the hypothesis that a disturbance of synaptic homeostasis underlies ASD. PMID:23956174

  11. The mycotoxin deoxynivalenol predisposes for the development of Clostridium perfringens-induced necrotic enteritis in broiler chickens.

    Antonissen, Gunther; Van Immerseel, Filip; Pasmans, Frank; Ducatelle, Richard; Haesebrouck, Freddy; Timbermont, Leen; Verlinden, Marc; Janssens, Geert Paul Jules; Eeckhaut, Venessa; Eeckhout, Mia; De Saeger, Sarah; Hessenberger, Sabine; Martel, An; Croubels, Siska

    2014-01-01

    Both mycotoxin contamination of feed and Clostridium perfringens-induced necrotic enteritis have an increasing global economic impact on poultry production. Especially the Fusarium mycotoxin deoxynivalenol (DON) is a common feed contaminant. This study aimed at examining the predisposing effect of DON on the development of necrotic enteritis in broiler chickens. An experimental Clostridium perfringens infection study revealed that DON, at a contamination level of 3,000 to 4,000 µg/kg feed, increased the percentage of birds with subclinical necrotic enteritis from 20±2.6% to 47±3.0% (PClostridium perfringens. In conclusion, feed contamination with DON at concentrations below the European maximum guidance level of 5,000 µg/kg feed, is a predisposing factor for the development of necrotic enteritis in broilers. These results are associated with a negative effect of DON on the intestinal barrier function and increased intestinal protein availability, which may stimulate growth and toxin production of Clostridium perfringens. PMID:25268498

  12. Variational MCMC

    De Freitas, Nando; Hojen-Sorensen, Pedro; Jordan, Michael I.; Russell, Stuart

    2013-01-01

    We propose a new class of learning algorithms that combines variational approximation and Markov chain Monte Carlo (MCMC) simulation. Naive algorithms that use the variational approximation as proposal distribution can perform poorly because this approximation tends to underestimate the true variance and other features of the data. We solve this problem by introducing more sophisticated MCMC algorithms. One of these algorithms is a mixture of two MCMC kernels: a random walk Metropolis kernel ...

  13. Ansa Pancreatica: A Case Report of a Type of Ductal Variation in a Patient with Idiopathic Acute Recurrent Pancreatitis

    Kim, Hye Mi; Park, Jung Yup; Kim, Myeong Jin [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    Ansa pancreatica is a rare type of pancreatic ductal variation. Recently, ansa pancreatic has been considered as a predisposing factor in patients with idiopathic acute pancreatitis. To the best of our knowledge, no previously published report in Korea has described ansa pancreatica. We report a case of acute recurrent pancreatitis with ansa pancreatica, which was revealed on magnetic resonance cholangiopancreatography (MRCP)

  14. Need, enabling, predisposing, and behavioral determinants of access to preventative care in Argentina: analysis of the national survey of risk factors.

    Eiman Jahangir

    Full Text Available INTRODUCTION: Health care utilization is an important step to disease management, providing opportunities for prevention and treatment. Anderson's Health Behavior Model has defined utilization by need, predisposing, and enabling determinants. We hypothesize that need, predisposing, and enabling, highlighting behavioral factors are associated with utilization in Argentina. METHODS: We performed a logistic regression analysis of the 2005 and 2009 Argentinean Survey of Risk Factors, a cohort of 41,392 and 34,732 individuals, to explore the association between need, enabling, predisposing, and behavioral factors to blood pressure measurement in the last year. RESULTS: In the 2005 cohort, blood pressure measurement was associated with perception of health, insurance coverage, basic needs met, and income. Additionally, female sex, civil state, household type, older age groups, education, and alcohol use were associated with utilization. The 2009 cohort showed similar associations with only minor differences between the models. CONCLUSIONS: We explored the association between utilization of clinical preventive services with need, enabling, predisposing, and behavioral factors. While predisposing and need determinants are associated with utilization, enabling factors such as insurance coverage provides an area for public intervention. These are important findings where policies should be focused to improve utilization of preventive services in Argentina.

  15. Variational analysis

    Rockafellar, R Tyrrell

    1998-01-01

    From its origins in the minimization of integral functionals, the notion of 'variations' has evolved greatly in connection with applications in optimization, equilibrium, and control. It refers not only to constrained movement away from a point, but also to modes of perturbation and approximation that are best describable by 'set convergence', variational convergence of functions and the like. This book develops a unified framework and, in finite dimension, provides a detailed exposition of variational geometry and subdifferential calculus in their current forms beyond classical and convex analysis. Also covered are set-convergence, set-valued mappings, epi-convergence, duality, maximal monotone mappings, second-order subderivatives, measurable selections and normal integrands. The changes in this 3rd printing mainly concern various typographical corrections, and reference omissions that came to light in the previous printings. Many of these reached the authors' notice through their own re-reading, that of th...

  16. Variational principles

    Moiseiwitsch, B L

    2004-01-01

    This graduate-level text's primary objective is to demonstrate the expression of the equations of the various branches of mathematical physics in the succinct and elegant form of variational principles (and thereby illuminate their interrelationship). Its related intentions are to show how variational principles may be employed to determine the discrete eigenvalues for stationary state problems and to illustrate how to find the values of quantities (such as the phase shifts) that arise in the theory of scattering. Chapter-by-chapter treatment consists of analytical dynamics; optics, wave mecha

  17. Isolated Streptococcus agalactiae tricuspid endocarditis in elderly patient without known predisposing factors: Case report and review of the literature.

    Abid, Leila; Charfeddine, Salma; Kammoun, Samir

    2016-04-01

    Group B streptococcal (GBS) tricuspid infective endocarditis is a very rare clinical entity. It affects intravenous drug users, pregnant, postpartum women, and the elderly. We report the case of a 68-year-old patient without known predisposing factors who presented a GBS tricuspid endocarditis treated by penicillin and aminoglycosides with no response. The patient was operated with a good evolution. Our case is the 25th reported in the literature. GBS disease is increasing in the elderly and is mainly associated to comorbid conditions. Tricuspid infective endocarditis with Group B streptococcus predominantly presents as a persistent fever with respiratory symptoms due to pulmonary embolism. Therefore, it requires a medicosurgical treatment and close follow-up. PMID:27053903

  18. A Multifactorial Analysis of the Extent to Which Eimeria and Fishmeal Predispose Broiler Chickens to Necrotic Enteritis.

    Rodgers, Nicholas J; Swick, Robert A; Geier, Mark S; Moore, Robert J; Choct, Mingan; Wu, Shu-Biao

    2015-03-01

    Necrotic enteritis (NE) is an important infectious disease in chickens. Predisposing factors play critical roles both in disease outbreaks in the field and in models for experimental induction of disease. Systematic manipulation and study of predisposing factors help to optimize methods for the experimental reproduction of disease. The nature of such factors may play a confounding role in challenge models and, therefore, warrant investigation to determine their importance in industry-relevant NE reproduction models. In the present study, we examined the roles of dietary fishmeal inclusion, Eimeria inoculation (E), and Clostridium perfringens challenge (C) on broiler growth performance and induction of NE infection. The results showed that E, preceding C, greatly increased the severity of NE induced in broiler chickens, but fishmeal addition played only a marginal role in the challenge model. Bird performance was significantly affected by all three factors during the 35-day experimental period. Fishmeal increased body weight, but statistically significant effects of fishmeal were not observed on feed conversion ratio (FCR) and feed intake. Both Eimeria and C. perfringens significantly reduced body weight gain and feed intake. E but not C led to significantly poorer FCR. These findings indicate that dietary fishmeal may be removed from the model to allow the performance results of challenged chicks to be equivalent to the performance of chicks in the field. In conclusion, the present study demonstrates that an NE challenge model without fishmeal is valid and removes bird performance bias in the model introduced by feeding high fishmeal diets, refining the model to facilitate the yield of more commercially relevant results. PMID:26292532

  19. Oral exposure to culture material extract containing fumonisins predisposes swine to the development of pneumonitis caused by Pasteurella multocida

    Fumonisin B1 (FB1) is a mycotoxin produced by Fusarium verticillioides and F. proliferatum that commonly occurs in maize. In swine, consumption of contaminated feed induces liver damage and pulmonary edema. Pasteurella multocida is a secondary pathogen, which can generate a respiratory disorder in predisposed pigs. In this study, we examined the effect of oral exposure to fumonisin-containing culture material on lung inflammation caused by P. multocida. Piglets received by gavage a crude extract of fumonisin, 0.5 mg FB1/kg body weight/day, for 7 days. One day later, the animals were instilled intratracheally with a non toxin producing type A strain of P. multocida and followed up for 13 additional days. Pig weight and cough frequency were measured throughout the experiment. Lung lesions, bronchoalveolar lavage fluid (BALF) cell composition and the expression of inflammatory cytokines were evaluated at the autopsy. Ingestion of fumonisin culture material or infection with P. multocida did not affect weight gain, induced no clinical sign or lung lesion, and only had minimal effect on BALF cell composition. Ingestion of mycotoxin extract increased the expression of IL-8, IL-18 and IFN-γ mRNA compared with P. multocida infection that increased the expression of TNF-α. The combined treatment with fumonisin culture material and P. multocida delayed growth, induced cough, and increased BALF total cells, macrophages and lymphocytes. Lung lesions were significantly enhanced in these animals and consisted of subacute interstitial pneumonia. TNF-α, IFN-γ and IL-18 mRNA expression was also increased. Taken together, our data showed that fumonisin culture material is a predisposing factor to lung inflammation. These results may have implications for humans and animals consuming FB1 contaminated food or feed

  20. Lung infarction following pulmonary embolism. A comparative study on clinical conditions and CT findings to identify predisposing factors

    Kirchner, J.; Obermann, A.; Stueckradt, S.; Tueshaus, C. [General Hospital Hagen (Germany). Radiology; Goltz, J.; Kickuth, R. [University Hospital Wuerzburg (Germany). Radiology; Liermann, D. [University Hospital Marienhospital Herne (Germany). Radiology

    2015-06-15

    The aim of this study was to identify factors predisposing to lung infarction in patients with pulmonary embolism (PE). We performed a retrospective analysis on 154 patients with the final diagnosis of PE being examined between January 2009 and December 2012 by means of a Toshiba Aquilion 64 CT scanner. The severity of clinical symptoms was defined by means of a clinical index with 4 classes. The pulmonary clot load was quantified using a modified severity index of PE as proposed by Miller. We correlated several potential predictors of pulmonary infarction such as demographic data, pulmonary clot burden, distance of total vascular obstruction and pleura, the presence of cardiac congestion, signs of chronic bronchitis or emphysema with the occurrence of pulmonary infarction. Computed tomography revealed 78 areas of pulmonary infarction in 45/154 (29.2%) patients. The presence of infarction was significantly higher in the right lung than in the left lung (p < 0.001). We found no correlation between pulmonary infarction and the presence of accompanying malignant diseases (r=-0.069), signs of chronic bronchitis (r=-0.109), cardiac congestion (r=-0.076), the quantified clot burden score (r=0.176), and the severity of symptoms (r=-0.024). Only a very weak negative correlation between the presence of infarction and age (r=-0.199) was seen. However, we could demonstrate a moderate negative correlation between the distance of total vascular occlusion and the occurrence of infarction (r=-0.504). Neither cardiac congestion nor the degree of pulmonary vascular obstruction are main factors predisposing to pulmonary infarction in patients with PE. It seems that a peripheral total vascular obstruction more often results in infarction than even massive central clot burden.

  1. Predisposing factors, diagnosis, treatment and prognosis of cerebral venous thrombosis during pregnancy and postpartum: a case-control study

    GAO Hui; YANG Bao-jun; JIN Li-ping; JIA Xiao-fang

    2011-01-01

    Background Previous investigations have demonstrated a relatively low incidence of stroke among young women,though both pregnancy and delivery can substantially increase the risk.Cerebral venous thrombosis may manifest different characteristics during pregnancy and postpartum as a result of their specific physiological statuses.This study aimed to identify the clinical manifestations,diagnosis,treatment,and prognosis of cerebral venous thrombosis during pregnancy and postpartum.Methods We conducted a retrospective analysis of 22 patients with cerebral venous thrombosis who were assigned to either group A (during pregnancy) or group B (during postpartum).The relevant risk factors,initiation and development of the disease,clinical presentations,diagnosis,treatment,and prognosis were compared between the two stages.Results Cerebral venous thrombosis occurred during both pregnancy and postpartum,but was more common postpartum.Patients in group A had a longer hospitalization period than those in group B.Confirmed predisposing factors in 85.7% of patients of group A were dehydration,infection,and underlying cerebrovascular disorders.No obvious predisposing factors were identified in group B.The most frequent symptom was headache,with epileptic seizures,hemiparalysis and aphasia being less frequent symptoms.Focal neurological symptoms (P=0.022) and cerebral infarction (P=0.014) occurred more frequently in group A than in group B.Anticoagulation therapy proved to be safe for cerebral venous thrombosis patients during puerperium,regardless of parenchymal hemorrhage.However,more attention should be paid to spontaneous in-site placental hemorrhage in pregnant patients.Both groups had similar prognoses (P=1.000),with 36.3% patients suffering from consequential dysfunction or recurrent intracranial hypertension.Delayed diagnosis was associated with a poorer prognosis.Conclusions Cerebral venous thrombosis manifests different clinical characteristics during pregnancy and

  2. Lung infarction following pulmonary embolism. A comparative study on clinical conditions and CT findings to identify predisposing factors

    The aim of this study was to identify factors predisposing to lung infarction in patients with pulmonary embolism (PE). We performed a retrospective analysis on 154 patients with the final diagnosis of PE being examined between January 2009 and December 2012 by means of a Toshiba Aquilion 64 CT scanner. The severity of clinical symptoms was defined by means of a clinical index with 4 classes. The pulmonary clot load was quantified using a modified severity index of PE as proposed by Miller. We correlated several potential predictors of pulmonary infarction such as demographic data, pulmonary clot burden, distance of total vascular obstruction and pleura, the presence of cardiac congestion, signs of chronic bronchitis or emphysema with the occurrence of pulmonary infarction. Computed tomography revealed 78 areas of pulmonary infarction in 45/154 (29.2%) patients. The presence of infarction was significantly higher in the right lung than in the left lung (p < 0.001). We found no correlation between pulmonary infarction and the presence of accompanying malignant diseases (r=-0.069), signs of chronic bronchitis (r=-0.109), cardiac congestion (r=-0.076), the quantified clot burden score (r=0.176), and the severity of symptoms (r=-0.024). Only a very weak negative correlation between the presence of infarction and age (r=-0.199) was seen. However, we could demonstrate a moderate negative correlation between the distance of total vascular occlusion and the occurrence of infarction (r=-0.504). Neither cardiac congestion nor the degree of pulmonary vascular obstruction are main factors predisposing to pulmonary infarction in patients with PE. It seems that a peripheral total vascular obstruction more often results in infarction than even massive central clot burden.

  3. Replacing sugary drinks with milk is inversely associated with weight gain among young obesity-predisposed children.

    Zheng, Miaobing; Rangan, Anna; Allman-Farinelli, Margaret; Rohde, Jeanett Friis; Olsen, Nanna Julie; Heitmann, Berit Lilienthal

    2015-11-14

    The aim of the present study was to examine the associations of sugary drink consumption and its substitution with alternative beverages with body weight gain among young children predisposed to future weight gain. Secondary analysis of the Healthy Start Study, a 1·5-year randomised controlled trial designed to prevent overweight among Danish children aged 2-6 years (n 366), was carried out. Multivariate linear regression models were used to investigate the associations of beverage consumption with change in body weight (Δweight) or BMI(ΔBMI) z-score. Substitution models were used to extrapolate the influence of replacing sugary drinks with alternative beverages (water, milk and diet drinks) on Δweight or ΔBMI z-score. Sugary drink intake at baseline and substitution of sugary drinks with milk were associated with both Δweight and ΔBMI z-score. Every 100 g/d increase in sugary drink intake was associated with 0·10 kg and 0·06 unit increases in body weight (P=0·048) and BMI z-score (P=0·04), respectively. Substitution of 100 g/d sugary drinks with 100 g/d milk was inversely associated with Δweight (β=-0·16 kg; P=0·045) and ΔBMI z-score (β=-0·07 units; P=0·04). The results of this study suggest that sugary drink consumption was associated with body weight gain among young children with high predisposition for future overweight. In line with the current recommendations, sugary drinks, whether high in added or natural sugar, should be discouraged to help prevent childhood obesity. Milk may be a good alternative to sugary drinks with regard to weight management among young obesity-predisposed children. PMID:26328600

  4. Genome-wide association and fine mapping of genetic loci predisposing to colon carcinogenesis in mice.

    Liu, Pengyuan; Lu, Yan; Liu, Hongbo; Wen, Weidong; Jia, Dongmei; Wang, Yian; You, Ming

    2012-01-01

    To identify the genetic determinants of colon tumorigenesis, 268 male mice from 33 inbred strains derived from different genealogies were treated with azoxymethane (AOM; 10 mg/kg) once a week for six weeks to induce colon tumors. Tumors were localized exclusively within the distal colon in each of the strains examined. Inbred mouse strains exhibit a large variability in genetic susceptibility to AOM-induced colon tumorigenesis. The mean colon tumor multiplicity ranged from 0 to 38.6 (mean = 6.5 ± 8.6) and tumor volume ranged from 0 to 706.5 mm(3) (mean = 87.4 ± 181.9) at 24 weeks after the first dose of AOM. AOM-induced colon tumor phenotypes are highly heritable in inbred mice, and 68.8% and 71.3% of total phenotypic variation in colon tumor multiplicity and tumor volume, respectively, are attributable to strain-dependent genetic background. Using 97,854 single-nucleotide polymorphisms, we carried out a genome-wide association study (GWAS) of AOM-induced colon tumorigenesis and identified a novel susceptibility locus on chromosome 15 (rs32359607, P = 6.31 × 10(-6)). Subsequent fine mapping confirmed five (Scc3, Scc2, Scc12, Scc8, and Ccs1) of 16 linkage regions previously found to be associated with colon tumor susceptibility. These five loci were refined to less than 1 Mb genomic regions of interest. Major candidates in these loci are Sema5a, Fmn2, Grem2, Fap, Gsg1l, Xpo6, Rabep2, Eif3c, Unc5d, and Gpr65. In particular, the refined Scc3 locus shows high concordance with the human GWAS locus that underlies hereditary mixed polyposis syndrome. These findings increase our understanding of the complex genetics of colon tumorigenesis, and provide important insights into the pathways of colorectal cancer development and might ultimately lead to more effective individually targeted cancer prevention strategies. PMID:22127497

  5. Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis

    Stieger, B; Geier, A.

    2011-01-01

    INTRODUCTION: Drug-induced cholestasis, intrahepatic cholestasis of pregnancy and viral hepatitis are acquired forms of liver disease. Cholestasis is a pathophysiologic state with impaired bile formation and subsequent accumulation of bile salts in hepatocytes. The bile salt export pump (BSEP) (ABCB11) is the key export system for bile salts from hepatocytes. AREAS COVERED: This article provides an introduction into the physiology of bile formation followed by a summary of the current knowled...

  6. Anatomical Variations of Anterior Osteomeatal Complex in Patients With Chronic Sinusitis

    Sarafraz

    2016-06-01

    Full Text Available Background Identifying predisposing factors for chronic sinusitis is very important. Objectives Anatomical variation of the lateral nasal wall has been investigated in several studies and it has been suggested as a predisposing factor for sinusitis. Patients and Methods In this case-control study, 74 patients who were diagnosed with chronic sinusitis (the case group based on clinical criteria and CT scan were entered into the study and 74 patients without chronic sinusitis were considered as the control group. CT scans of all patients were reviewed by a radiologist to interpret and evaluate anatomic variations of anterior osteomeatal complex including nasal deviation, concha bullosa, agger nasi, lateralized uncinate, Haller’s cells, paradoxical middle turbinate, and maxillary hypoplasia. Data were analyzed using the chi-squared test and Fisher’s exact test with SPSS software version 18. P < 0.05 was considered statistically significant. Results Results showed that the most common sinus involved was maxillary sinus. Among anatomic variations, septal deviation and concha bullosa were associated with chronic sinusitis (P < 0.01 and P < 0.032, respectively. Conclusions Among anatomic variations, septal deviation and concha bullosa are predisposing factors for chronic sinusitis and we recommend that patients with chronic sinusitis be treated by surgical procedures.

  7. Oral squamous cell carcinoma in patients with and without predisposing habits in glossal and extra-glossal site: An institutional experience in South India

    K Ranganathan

    2015-01-01

    Full Text Available INTRODUCTION: We report our cohort of oral squamous cell carcinoma (OSCC patients with or without predisposing habits in glossal and extraglossal sites. MATERIALS AND METHODS: A retrospective analysis of OSCC cases over a period of 13.75 years from the archives of Ragas Dental College and Hospital, Chennai, India. Demographic details, site, details of habits, and grade of OSCC were retrieved. Social Package for Social Service version 17.0 was used to analyze the data. Descriptive statistics, Chi-square test, and comparison of mean were employed appropriately. RESULTS: There were 151 OSCC cases, of which 60.9% (92/151 were males, 21.2% (32/151 were aged ≤40 years and 27.82% (42/151 occurred in the tongue. The glossal to extraglossal site ratio was 1:2.6. Predisposing habits were present in 52.4% of glossal OSCC and 82.6% with extra-glossal sites (P = 0.000. Besides tobacco, exclusive areca nut chewing was observed in 15.23% (23/151 patients. Thirty-nine (25.8% belonged to non-tobacco, non-areca nut, non-alcohol (NTND group with male to female ratio was1:3. DISCUSSION: In our cohort, 112 of 151 OSCC (74.8% had at least one predisposing habit. Chewing of areca nut alone was a predisposing habit by itself. In addition, there was a small, subset of cases that were not associated with history of any habits. This study brings to focus the subsets of OSCC predisposed by areca nut and NTND, that needs to be studied further.

  8. Cigarette Smoke-Induced Lung Disease Predisposes to More Severe Infection with Nontypeable Haemophilus influenzae: Protective Effects of Andrographolide.

    Tan, W S Daniel; Peh, Hong Yong; Liao, Wupeng; Pang, Chu Hui; Chan, Tze Khee; Lau, Suk Hiang; Chow, Vincent T; Wong, W S Fred

    2016-05-27

    Cigarette smoke (CS) is associated with many maladies, one of which is chronic obstructive pulmonary disease (COPD). As the disease progresses, patients are more prone to develop COPD exacerbation episodes by bacterial infection, particularly to nontypeable Haemophilus influenza (NTHi) infection. The present study aimed to develop a CS-exposed mouse model that increases inflammation induced by NTHi challenge and investigate the protective effects of andrographolide, a bioactive molecule with anti-inflammatory and antioxidant properties isolated from the plant Andrographis paniculata. Female BALB/c mice exposed to 2 weeks of CS followed by a single intratracheal instillation of NTHi developed increased macrophage and neutrophil pulmonary infiltration, augmented cytokine levels, and heightened oxidative damage. Andrographolide effectively reduced lung cellular infiltrates and decreased lung levels of TNF-α, IL-1β, CXCL1/KC, 8-OHdG, matrix metalloproteinase-8 (MMP-8), and MMP-9. The protective actions of andrographolide on CS-predisposed NTHi inflammation might be attributable to increased nuclear factor erythroid-2-related factor 2 (Nrf2) activation and decreased Kelch-like ECH-associated protein 1 (Keap1) repressor function, resulting in enhanced gene expression of antioxidant enzymes including heme oxygenase-1 (HO-1), glutathione reductase (GR), glutathione peroxidase-2 (GPx-2), glutamate-cysteine ligase modifier (GCLM), and NAD(P)H quinone oxidoreductase 1 (NQO1). Taken together, these findings strongly support a therapeutic potential for andrographolide in preventing lung inflammation caused by NTHi in cigarette smokers. PMID:27104764

  9. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

    Piotrowski, Arkadiusz; Xie, Jing; Liu, Ying F; Poplawski, Andrzej B; Gomes, Alicia R; Madanecki, Piotr; Fu, Chuanhua; Crowley, Michael R; Crossman, David K; Armstrong, Linlea; Babovic-Vuksanovic, Dusica; Bergner, Amanda; Blakeley, Jaishri O; Blumenthal, Andrea L; Daniels, Molly S; Feit, Howard; Gardner, Kathy; Hurst, Stephanie; Kobelka, Christine; Lee, Chung; Nagy, Rebecca; Rauen, Katherine A; Slopis, John M; Suwannarat, Pim; Westman, Judith A; Zanko, Andrea; Korf, Bruce R; Messiaen, Ludwine M

    2014-02-01

    Constitutional SMARCB1 mutations at 22q11.23 have been found in ∼50% of familial and schwannomatosis cases. We sequenced highly conserved regions along 22q from eight individuals with schwannomatosis whose schwannomas involved somatic loss of one copy of 22q, encompassing SMARCB1 and NF2, with a different somatic mutation of the other NF2 allele in every schwannoma but no mutation of the remaining SMARCB1 allele in blood and tumor samples. LZTR1 germline mutations were identified in seven of the eight cases. LZTR1 sequencing in 12 further cases with the same molecular signature identified 9 additional germline mutations. Loss of heterozygosity with retention of an LZTR1 mutation was present in all 25 schwannomas studied. Mutations segregated with disease in all available affected first-degree relatives, although four asymptomatic parents also carried an LZTR1 mutation. Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1. PMID:24362817

  10. Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours.

    Maja L Arendt

    2015-11-01

    Full Text Available Canine mast cell tumours (CMCT are one of the most common skin tumours in dogs with a major impact on canine health. Certain breeds have a higher risk of developing mast cell tumours, suggesting that underlying predisposing germ-line genetic factors play a role in the development of this disease. The genetic risk factors are largely unknown, although somatic mutations in the oncogene C-KIT have been detected in a proportion of CMCT, making CMCT a comparative model for mastocytosis in humans where C-KIT mutations are frequent. We have performed a genome wide association study in golden retrievers from two continents and identified separate regions in the genome associated with risk of CMCT in the two populations. Sequence capture of associated regions and subsequent fine mapping in a larger cohort of dogs identified a SNP associated with development of CMCT in the GNAI2 gene (p = 2.2x10-16, introducing an alternative splice form of this gene resulting in a truncated protein. In addition, disease associated haplotypes harbouring the hyaluronidase genes HYAL1, HYAL2 and HYAL3 on cfa20 and HYAL4, SPAM1 and HYALP1 on cfa14 were identified as separate risk factors in European and US golden retrievers, respectively, suggesting that turnover of hyaluronan plays an important role in the development of CMCT.

  11. Replacing sugary drinks with milk is inversely associated with weight gain among young obesity-predisposed children

    Zheng, Miaobing; Rangan, Anna; Allman-Farinelli, Margaret;

    2015-01-01

    The aim of the present study was to examine the associations of sugary drink consumption and its substitution with alternative beverages with body weight gain among young children predisposed to future weight gain. Secondary analysis of the Healthy Start Study, a 1·5-year randomised controlled...... extrapolate the influence of replacing sugary drinks with alternative beverages (water, milk and diet drinks) on Δweight or ΔBMI z-score. Sugary drink intake at baseline and substitution of sugary drinks with milk were associated with both Δweight and ΔBMI z-score. Every 100 g/d increase in sugary drink...... intake was associated with 0·10 kg and 0·06 unit increases in body weight (P=0·048) and BMI z-score (P=0·04), respectively. Substitution of 100 g/d sugary drinks with 100 g/d milk was inversely associated with Δweight (β=-0·16 kg; P=0·045) and ΔBMI z-score (β=-0·07 units; P=0·04). The results of this...

  12. Predisposal Radioactive Waste Management

    Recognition of the importance of the safe management of radioactive waste means that, over the years, many well-established and effective techniques have been developed, and the nuclear industry and governments have gained considerable experience in this field. Minimization of waste is a fundamental principle underpinning the design and operation of all nuclear operations, together with waste reuse and recycling. For the remaining radioactive waste that will be produced, it is essential that there is a well defined plan (called a waste treatment path) to ensure the safe management and ultimately the safe disposal of radioactive waste so as to guarantee the sustainable long term deployment of nuclear technologies

  13. Prevalence and predisposing factors regarding intestinal parasitic infections among rural primary school pupils at Minia Governorate, Egypt

    Fatma A.A. Ibrahium

    2011-09-01

    Full Text Available About 400 million school-age children are infected with roundworm, whipworm and hookworm worldwide. This study aims to assess prevalence of parasitic infections among rural primary school pupils at Minia Governorate, Egypt, and to identify relevant predisposing factors of the school and pupils to intestinal parasitic infections. A total of 264 pupils out of 1053, aged 6-12 years, were randomly selected for parasitological investigation and the school was inspected on site for sanitary facilities and conditions of hygiene, as well as the conditions of hygiene of the pupils. The pupils were examined for ova, cysts and/or larvae of intestinal parasites using direct wet mount and formal-ether concentration techniques. Inspection of sanitary facilities and the conditions of hygiene of the school, as well pupil's conditions of hygiene, were carried out through observation checklists. Findings revealed the following intestinal parasites: Entamoeba coli (in 19.3% of pupils, Ascaris lumbricoides (3.8%, Hymenolepiasis nana (12.5%, Enterobious vermicularis (5.7% and Giardia lamblia (12.5%, with varying percentages between male and female pupils, and a highly statistical association between pupil sex and type of parasites (P<0.001. Unapproved sanitary facilities and conditions of hygiene of the school and pupils were observed. Many intestinal parasitic infections among the primary school pupils were found. Unapproved and low inventory school sanitary facilities were observed, in addition to poor conditions of hygiene of pupils which may play a crucial role in these infections. The school facilities and sanitary conditions, especially the quality of water in the toilets, should be improved. Pupils and school personnel have a real need for health education about modes of transmission and preventive methods of intestinal parasitic infections.

  14. Predisposing genes for vitiligo%白癜风易感基因的研究进展

    彭吕娇; 康晓静

    2014-01-01

    白癜风是一种获得性色素脱失性皮肤疾病,其发病机制复杂.近年来研究表明,白癜风是一种多基因遗传病,尤其是泛发性白癜风与遗传密切相关.在近年研究中,认为谷胱甘肽巯基转移酶基因、过氧化氢酶基因、Toll样受体家族基因、酪氨酸酶基因、盘状结构域受体基因、人类白细胞抗原等位基因和超氧化物歧化酶基因等是白癜风易感基因.探讨白癜风的易感基因为进一步阐明其发病机制提供依据,对白癜风尤其是泛发性白癜风的早期诊断、治疗、预防具有重要作用.%Vitiligo is an acquired dermatosis characterized principally by skin depigmentation with complex pathogenesis.Recent studies have indicated that vitiligo is a polygenic disease,and generalized vitiligo is particularly closely related to heredity.Many predisposing genes have been discovered for vitiligo,including the glutathione S-transferase gene,Catalase gene,Toll-like receptor gene family,tyrosinase gene,discoidin domain receptor 1 gene,human leukocyte antigen alleles,superoxide dismutase gene,etc.To study the susceptible genes for vitiligo may provide a basis for the elucidation of vitiligo pathogenesis,and greatly benefit the early diagnosis,treatment and prevention of vitiligo,especially generalized vitiligo.

  15. Adipocyte hypertrophy, inflammation and fibrosis characterize subcutaneous adipose tissue of healthy, non-obese subjects predisposed to type 2 diabetes.

    A M Josefin Henninger

    Full Text Available BACKGROUND: The adipose tissue is important for development of insulin resistance and type 2 diabetes and adipose tissue dysfunction has been proposed as an underlying cause. In the present study we investigated presence of adipocyte hypertrophy, and gene expression pattern of adipose tissue dysfunction in the subcutaneous adipose tissue of healthy, non-obese subjects predisposed to type 2 diabetes compared to matched control subjects with no known genetic predisposition for type 2 diabetes. METHOD: Seventeen healthy and non-obese subjects with known genetic predisposition for type 2 diabetes (first-degree relatives, FDRs and 17 control subjects were recruited. The groups were matched for gender and BMI and had similar age. Glucose tolerance was determined by an oral glucose tolerance test and insulin sensitivity was calculated using HOMA-index. Blood samples were collected and subcutaneous abdominal adipose tissue biopsies obtained for gene expression analysis and adipocyte cell size measurement. RESULTS: Our findings show that, in spite of similar age, BMI and percent body fat, FDRs displayed adipocyte hypertrophy, as well as higher waist/hip ratio, fasting insulin levels, HOMA-IR and serum triglycerides. Adipocyte hypertrophy in the FDR group, but not among controls, was associated with measures of impaired insulin sensitivity. The adipocyte hypertrophy was accompanied by increased inflammation and Wnt-signal activation. In addition, signs of tissue remodeling and fibrosis were observed indicating presence of early alterations associated with adipose tissue dysfunction in the FDRs. CONCLUSION: Genetic predisposition for type 2 diabetes is associated with impaired insulin sensitivity, adipocyte hypertrophy and other markers of adipose tissue dysfunction. A dysregulated subcutaneous adipose tissue may be a major susceptibility factor for later development of type 2 diabetes.

  16. Serological evidence of brucellosis among predisposed patients with pyrexia of unknown origin in the north eastern Nigeria.

    Baba, M M; Sarkindared, S E; Brisibe, F

    2001-08-01

    Brucellosis is the zoonosis of world wide distribution and common cause of economic loss and ill health among animals and human populations. Patients with pyrexia of unknown origin (PUO) who were predisposed to brucellosis through rearing of animals and consumption of different animal products were tested for presence of Brucella abortus antibodies using Rose Bengal and serum agglutination antigens. Twenty six (5.2%) of the 500 patients had B. abortus antibody. The high titres of 320, 640 and 1280 obtained in the sera of patients in this study are suggestive of the endemicity of the disease in this environment. No significant difference in age and sex distribution of brucella antibody prevalence was observed. Similarly, spatial distribution of brucella antibody in different locations was not statistically significant. Although higher serological prevalence was noted in children and students than in other populations examined, the difference in prevalence between the various occupational groups was not significant. Animal handling activities including rearing are not important factors in the prevalence of brucellosis. However, among the rearers, the highest prevalence (20%) was observed among cattle handlers followed in decreasing order of prevalence by goat rearers (10%), mixed sheep and cattle rearers (9%), mixed sheep and goat rearers (8%), and 4% among each of sheep rearers and non rearers of animals. In addition, consumers of yoghurt and fresh goat milk had higher prevalence (20%) than consumers of other milk products. However, brucella antibody prevalence between consumers and non-consumers of animal products was not significantly different. The high economic loss and public health implications of brucellosis necessitates the need for effective surveillance as well as appropriate preventive and control measure among human and animal populations. PMID:11505741

  17. Analysis of adverse events and predisposing factors in voluntary and replacement whole blood donors: A study from north India

    Naveen Agnihotri

    2012-01-01

    Full Text Available Background: Lack of awareness and community motivation, compounded with fragmented blood transfusion services in our country, Often leads to shortage of blood. Donor recruitment and retention are essential for ensuring adequate blood supply. However, adverse events (AEs in donors have a negative impact on donor return. Aims and Objectives: The present study was aimed to assess the frequency of AEs in whole blood donors and analyze the predisposing factors for AEs. Material and Methods: The study was conducted on allogeneic whole blood donors over a period of 14 months, i.e., from January 2002 to February 2003. A total of 37,896 donors were monitored for any AEs: 22587 (59.6% were voluntary donors (VD and 15,309 (40.4% were replacement donors (RD. Results: Overall reaction rate was 2.5% with vasovagal reactions constituting 63.5% and hematomas 35.0% of all reactions. Vasovagal reactions showed a significant association with young age, lower weight, first time donation status, female gender, and nature of blood donation camps. Amongst male donors, RDs had more reactions (P=0.03 than VDs. Majority of donors (85% with vasovagal reactions admitted to some fear or anxiety prior to donation. Hematoma formation occurred significantly more when less trained staff performed phlebotomy. Conclusion: Donor safety is an essential prerequisite to increase voluntary blood donation. AE analysis helps in identifying the blood donors at risk of donor reactions and adopting appropriate donor motivational strategies, pre-donation counseling, and care during and after donation.

  18. Macrophages and dendritic cells emerge in the liver during intestinal inflammation and predispose the liver to inflammation.

    Yohei Mikami

    Full Text Available The liver is a physiological site of immune tolerance, the breakdown of which induces immunity. Liver antigen-presenting cells may be involved in both immune tolerance and activation. Although inflammatory diseases of the liver are frequently associated with inflammatory bowel diseases, the underlying immunological mechanisms remain to be elucidated. Here we report two murine models of inflammatory bowel disease: RAG-2(-/- mice adoptively transferred with CD4(+CD45RB(high T cells; and IL-10(-/- mice, accompanied by the infiltration of mononuclear cells in the liver. Notably, CD11b(-CD11c(lowPDCA-1(+ plasmacytoid dendritic cells (DCs abundantly residing in the liver of normal wild-type mice disappeared in colitic CD4(+CD45RB(high T cell-transferred RAG-2(-/- mice and IL-10(-/- mice in parallel with the emergence of macrophages (Mφs and conventional DCs (cDCs. Furthermore, liver Mφ/cDCs emerging during intestinal inflammation not only promote the proliferation of naïve CD4(+ T cells, but also instruct them to differentiate into IFN-γ-producing Th1 cells in vitro. The emergence of pathological Mφ/cDCs in the liver also occurred in a model of acute dextran sulfate sodium (DSS-induced colitis under specific pathogen-free conditions, but was canceled in germ-free conditions. Last, the Mφ/cDCs that emerged in acute DSS colitis significantly exacerbated Fas-mediated hepatitis. Collectively, intestinal inflammation skews the composition of antigen-presenting cells in the liver through signaling from commensal bacteria and predisposes the liver to inflammation.

  19. Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India

    Vykuntaraju K Gowda

    2015-01-01

    Full Text Available Introduction: Cerebral palsy (CP is the most common physical disorder of children. Causes like jaundice and birth injury though are decreasing; complications resulting from the survival of low birth weight babies are replacing some of the older etiologies. Hence, this study was planned. Objectives: The objective was to study the clinical patterns, predisposing factors, and co-morbidities in children with CP. Materials and Methods: The present study is a hospital based prospective study conducted from January 2012 to January 2013 in children presenting to neurodevelopmental clinic at a tertiary care teaching hospital in India. Hundred cases with clinical features suggestive of CP were included in the study. Cases were evaluated by history, clinical examination, and necessary investigations. Results: Results of the study showed 81% of spastic, 12% of hypotonic, 5% of dystonic, and 2% of mixed CP cases. The mean age of presentation was 2 year, 2 month, and male to female ratio of 1:2. Pregnancy-induced hypertension (PIH was the most common antenatal complication observed in 6%. Four percent had neonatal sepsis and 19% were born premature. Associated co-morbidities were mental retardation (55%, seizure disorder (46%, visual problems (26%, hearing problems (19%, and failure to thrive (47%. Discussion: Sex distribution observed in our study was male to female ratio of 1.2, which was comparable with a multicenter study in Europe. PIH was observed in 6% of cases, which was comparable with prior studies. Birth asphyxia was observed in 43% of cases. Eighty-one percent of the cases constituted a spastic variety of CP which was comparable to other studies. Conclusion: Perinatal asphyxia was the important etiological factor. We found preventable intranatal causes (60% and antenatal causes (20% forming a significant proportion. Co-morbidities were significantly observed in our study.

  20. Can Certain Genotypes Predispose to Poor Asthma Control in Children? A Pharmacogenetic Study of 9 Candidate Genes in Children with Difficult Asthma

    Basima Almomani; Hawwa, Ahmed F; Millership, Jeffrey S; Liam Heaney; Isabella Douglas; McElnay, James C.; Shields, Michael D.

    2013-01-01

    Objective: We tested the hypothesis that patients with difficult asthma have an increased frequency of certain genotypes that predispose them to asthma exacerbations and poor asthma control. Methods: A total of 180 Caucasian children with confirmed asthma diagnosis were selected from two phenotypic groups; difficult (n = 112) versus mild/moderate asthma (n = 68) groups. All patients were screened for 19 polymorphisms in 9 candidate genes to evaluate their association with difficult asthma. Ke...

  1. Are environmental conditions predisposing to calcium-deficiency rickets in developing countries? : A community-based case study from rural Kaduna, northern Nigeria

    Hartmann, Lena

    2013-01-01

    Calcium-deficiency rickets (CDR) is a metabolic bone disease in children that is characterized by impaired mineralization and severe bone deformities. As CDR is often an endemic phenomenon that is almost exclusively restricted to tropical areas, environmental conditions are currently considered to be a possible predisposing factor for the CDR. Apart from a lack of macronutrients and micronutrients, an oversupply of potentially toxic elements (PTEs) in the soil-plant pathway of the CDR areas i...

  2. Incidence, predisposing factors, management and survival following cardiac arrest due to subarachnoid haemorrhage: a review of the literature

    Skrifvars Markus B

    2012-11-01

    Full Text Available Abstract Introduction The prevalence of cardiac arrest among patients with subarachnoid haemorrhage [SAH], and the prevalence of SAH as the cause following out-of-hospital cardiac arrest [OHCA] or in-hospital cardiac arrest [IHCA] is unknown. In addition it is unclear whether cardiopulmonary resuscitation [CPR] and post-resuscitation care management differs, and to what extent this will lead to meaningful survival following cardiac arrest [CA] due to SAH. Aim We reviewed the literature in order to describe; 1.The prevalence and predisposing factors of CA among patients with SAH 2.The prevalence of SAH as the cause of OHCA or IHCA and factors characterising CPR 3.The survival and management of SAH patients with CA. Material and methods The following sources, PubMed, CinAHL and The Cochrane DataBase were searched using the following Medical Subheadings [MeSH]; 1. OHCA, IHCA, heart arrest and 2. subarachnoid haemorrhage. Articles containing relevant data based on the abstract were reviewed in order to find results relevant to the proposed research questions. Manuscripts in other languages than English, animal studies, reviews and case reports were excluded. Results A total of 119 publications were screened for relevance and 13 papers were included. The prevalence of cardiac or respiratory arrest among all patients with SAH is between 3-11%, these patients commonly have a severe SAH with coma, large bleeds and evidence of raised intracerebral pressure on computed tomography scans compared to those who did not experience a CA. The prevalence of patients with SAH as the cause of the arrest among OHCA cases vary between 4 to 8% among those who die before hospital admission, and between 4 to 18% among those who are admitted. The prevalence of SAH as the cause following IHCA is low, around 0.5% according to one recent study. In patients with OHCA survival to hospital discharge is poor with 0 to 2% surviving. The initial rhythm is commonly asystole or

  3. Predisposing factors of pneumothorax in percutaneous transthoracic fine needle aspiration biopsy: comparison between CT emphysema score and pulmonary function test

    To compare the CT emphysema score with various factors of pulmonary function test by simple spirometry and to use the result as a predictor of pneumothorax in percutaneous transthoracic fine needle aspiration biopsy. The CT scans of 106 patients who had undergone percutaneous transthoracic fine needle aspiration biopsy of lung lesions within the previous 18 months were retrospectively reviewed. In 75 of these 106 cases, the results of the pulmonary function test were also reviewed. On plain chest radiography, pneumothorax was noted in 20 cases (19%). Emphysema was blindly evaluated. We divided each lung into four segments and determined the severity and involved volume of emphysema, as seen on CT. Severity was classified as one of four grades, as follow : absence of emphysema=0 ; low attenuation area of less than 5mm=1 ; low attenuation area of more than 5mm, and vascular pruning with normal lung intervening=2 ; and diffuse low attenuation without intervening normal lung, and larger confluent low attenuation with vascular pruning and distortion of branching pattern occupying all or almost all the involved parenchyma=3. The involved area was also classified as one of four grades : less than 25%=1 ; 25 - 49%=2 ; 51 - 74%=3 ; and more than 75%=4. The CT emphysema score was defined as the average of the grade of severity multiplied by the grade of involved area. Pulmonary function tests, consisting of simple spirometry and a pulmonologist's interpretation, were evaluated. We also evaluated depth and size of lesion as known predisposing factors in postbioptic pneumothorax. Statistical analysis was performed using the chi-square test, Wilcoxon ranks sum W test and the student t test. A comparison between the two groups of occurrence(with or without pneumothorax) showed the emphysema scores to be 1.69±2.0 and 1.11±2.9, respectively ; there was thus no significant difference between the two groups (z= - 0.048, p>0.10). Nor were differences revealed by the pulmonary

  4. Predisposing factors of pneumothorax in percutaneous transthoracic fine needle aspiration biopsy: comparison between CT emphysema score and pulmonary function test

    Lee, Chang Ho; Park, Kyung Joo; Park, Dong Won; Jung, Kyung Il; Suh, Jung Ho [Ajou Univ. College of Medicine, Seoul (Korea, Republic of)

    1997-11-01

    To compare the CT emphysema score with various factors of pulmonary function test by simple spirometry and to use the result as a predictor of pneumothorax in percutaneous transthoracic fine needle aspiration biopsy. The CT scans of 106 patients who had undergone percutaneous transthoracic fine needle aspiration biopsy of lung lesions within the previous 18 months were retrospectively reviewed. In 75 of these 106 cases, the results of the pulmonary function test were also reviewed. On plain chest radiography, pneumothorax was noted in 20 cases (19%). Emphysema was blindly evaluated. We divided each lung into four segments and determined the severity and involved volume of emphysema, as seen on CT. Severity was classified as one of four grades, as follow : absence of emphysema=0 ; low attenuation area of less than 5mm=1 ; low attenuation area of more than 5mm, and vascular pruning with normal lung intervening=2 ; and diffuse low attenuation without intervening normal lung, and larger confluent low attenuation with vascular pruning and distortion of branching pattern occupying all or almost all the involved parenchyma=3. The involved area was also classified as one of four grades : less than 25%=1 ; 25 - 49%=2 ; 51 - 74%=3 ; and more than 75%=4. The CT emphysema score was defined as the average of the grade of severity multiplied by the grade of involved area. Pulmonary function tests, consisting of simple spirometry and a pulmonologist's interpretation, were evaluated. We also evaluated depth and size of lesion as known predisposing factors in postbioptic pneumothorax. Statistical analysis was performed using the chi-square test, Wilcoxon ranks sum W test and the student t test. A comparison between the two groups of occurrence(with or without pneumothorax) showed the emphysema scores to be 1.69{+-}2.0 and 1.11{+-}2.9, respectively ; there was thus no significant difference between the two groups (z= - 0.048, p>0.10). Nor were differences revealed by the

  5. Vertebral osteomyelitis caused by non-tuberculous mycobacteria: Predisposing conditions and clinical characteristics of six cases and a review of 63 cases in the literature.

    Kim, Chung-Jong; Kim, Uh-Jin; Kim, Hong Bin; Park, Sang Won; Oh, Myoung-Don; Park, Kyung-Hwa; Kim, Nam Joong

    2016-07-01

    Background Several case series have reported on clinical and radiographic characteristics of patients with vertebral osteomyelitis (VO) caused by non-tuberculous mycobacteria (NTM). However, only a few patients were included, and systematic reviews are still lacking. The aim of this study was to update and summarise the pre-disposing conditions, clinical and radiographic characteristics of such cases due to NTM. Methods In this study, a systematic review was conducted of the English-language literature from 1961-2014 to investigate the pre-disposing conditions and characteristics of cases of VO due to NTM. Also, six additional cases diagnosed in the study hospitals were described; these cases are included in an analysis of a total of 69 cases of NTM VO. Results The most common species, regardless of the presence of HIV co-infection, was M. avium Complex followed by M. xenopi. Ten cases with HIV infection had a median CD4 lymphocyte count of 320/mm(3) (range = 41-465/mm(3)) at the time of diagnosis of NTM VO. The VO in the cases with HIV infections occurred at an earlier age and more often involved the thoracic spine than in the cases without HIV infection. Pre-disposing trauma or surgery was reported in 14.5% (10/69) of the cases. A variety of immunosuppressive diseases were observed in 49.3% of the patients, including the 10 with HIV infections and corticosteroids were used in 27.5% of the cases. Surgery was performed in 67.6% and improvement was reported in 80.6%. Conclusion NTM should be considered in immunocompromised patients with indolent VO without confirmation of tuberculosis. PMID:27002256

  6. Frequency of different types of precocious puberty, determining the predisposing factor and need to treatment in children - Emam Hospital (1993-2000

    Moayeri H

    2002-07-01

    Full Text Available Background: This study was performed in order to detect the frequency of different types of precocious puberty, predisposing factors and to show which group of patients need to treatment. Materials and Methods: In this study, 74 patients who referred to pediatric endocrine clinic of Imam Khomeini Hospital and private office from 1993-2000 were assessed. A complete history was taken and physical examination was done in all patients by pediatrics endocrinologist. Bone age was done in all patients and specific hormonal tests were measured in some of them. Results: Among 74 patients, 50 cases (67.6 percent were female and 24 cases (32.4 percent were male. The age of the patients was between 0.8-10 years old with mean 5.37 year. 75 percent of male patients had central (complete precocious puberty and 25 percent had peripheral (incomplete precocious puberty. 40 percent of female patients had central precocious puberty, 46 percent had premature telarche, 8 percent had premature pubarche, 2 percent had premature menarche and 4 percent had other kinds of precocious puberty (one case with hypothyroidism and one case with Mccune-Albright syndrome. 10 percent of female patients with central precocious puberty had predisposing factor and 90 percent of them were idiopathic. 38.8 percent of male patients with central precocious puberty had predisposing factor and 61.2 percent of them were idiopathic. 100 percent of male patients with peripheral precocious puberty had congenital Adrenal Hyperplasia. 38 percent of female patients and 100 percent of male patients needed to treatment. Conclusion: According to this study and references, precocious puberty in female usually benign but in male patients it should be evaluated thoroughly because they usually have a serious disorder which needs treatment.

  7. Child behavioural problems and body size among 2-6 year old children predisposed to overweight. results from the "healthy start" study

    Olsen, Nanna J; Pedersen, Jeanett; Händel, Mina N;

    2013-01-01

    OBJECTIVE: Psychological adversities among young children may be associated with childhood overweight and obesity. We examined if an increased level of child behavioural problems was associated with body size among a selected group of 2-6 year old children, who were all predisposed to develop...... and Difficulties Questionnaire (SDQ) was used to assess child stress by the SDQ Total Difficulties (SDQ-TD) score and the Prosocial Behavior (PSB) score. Height and weight were measured, and BMI z-scores were calculated. RESULTS: A direct, but non-significant linear trend was found between SDQ-TD score and BMI z...

  8. Tumor-mimicking large vegetation attached to the tricuspid valve without predisposing factors: A case report on CT and echocardiographic findings

    Bae, Jung Min; Choe, Yeon Hyeon; Hwang, Hye Won; Kim, Jung Sun; Kim, Wook Sung; Peck, Kyong Ran; Park, Sung Ji [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2015-10-15

    We report the CT and echocardiographic findings of a tumor-mimicking large vegetation attached to the tricuspid valve (TV) of a 45-year-old man without predisposing factors. Echocardiography revealed a mobile homogeneous echogenic mass attached to the TV. Cardiac CT showed a 4.5 × 2.3 cm irregular low-density mass with scant enhancement in the right ventricle. Based on clinical findings of fever, positive blood culture results for Streptococcus viridans, and pathologic confirmation of the lesion, a diagnosis of infective endocarditis and vegetation was made.

  9. Calculus of variations

    Elsgolc, L E; Stark, M

    1961-01-01

    Calculus of Variations aims to provide an understanding of the basic notions and standard methods of the calculus of variations, including the direct methods of solution of the variational problems. The wide variety of applications of variational methods to different fields of mechanics and technology has made it essential for engineers to learn the fundamentals of the calculus of variations. The book begins with a discussion of the method of variation in problems with fixed boundaries. Subsequent chapters cover variational problems with movable boundaries and some other problems; sufficiency

  10. An Obesity-Predisposing Variant of the FTO Gene Regulates D2R-Dependent Reward Learning.

    Sevgi, Meltem; Rigoux, Lionel; Kühn, Anne B; Mauer, Jan; Schilbach, Leonhard; Hess, Martin E; Gruendler, Theo O J; Ullsperger, Markus; Stephan, Klaas Enno; Brüning, Jens C; Tittgemeyer, Marc

    2015-09-01

    Variations in the fat mass and obesity-associated (FTO) gene are linked to obesity. However, the underlying neurobiological mechanisms by which these genetic variants influence obesity, behavior, and brain are unknown. Given that Fto regulates D2/3R signaling in mice, we tested in humans whether variants in FTO would interact with a variant in the ANKK1 gene, which alters D2R signaling and is also associated with obesity. In a behavioral and fMRI study, we demonstrate that gene variants of FTO affect dopamine (D2)-dependent midbrain brain responses to reward learning and behavioral responses associated with learning from negative outcome in humans. Furthermore, dynamic causal modeling confirmed that FTO variants modulate the connectivity in a basic reward circuit of meso-striato-prefrontal regions, suggesting a mechanism by which genetic predisposition alters reward processing not only in obesity, but also in other disorders with altered D2R-dependent impulse control, such as addiction. Significance statement: Variations in the fat mass and obesity-associated (FTO) gene are associated with obesity. Here we demonstrate that variants of FTO affect dopamine-dependent midbrain brain responses and learning from negative outcomes in humans during a reward learning task. Furthermore, FTO variants modulate the connectivity in a basic reward circuit of meso-striato-prefrontal regions, suggesting a mechanism by which genetic vulnerability in reward processing can increase predisposition to obesity. PMID:26354923

  11. The fate of (13)C-labelled and non-labelled inulin predisposed to large bowel fermentation in rats.

    Butts, Christine A; Paturi, Gunaranjan; Tavendale, Michael H; Hedderley, Duncan; Stoklosinski, Halina M; Herath, Thanuja D; Rosendale, Douglas; Roy, Nicole C; Monro, John A; Ansell, Juliet

    2016-04-20

    The fate of stable-isotope (13)C labelled and non-labelled inulin catabolism by the gut microbiota was assessed in a healthy rat model. Sprague-Dawley male rats were randomly assigned to diets containing either cellulose or inulin, and were fed these diets for 3 days. On day (d) 4, rats allocated to the inulin diet received (13)C-labelled inulin. The rats were then fed the respective non-labelled diets (cellulose or inulin) until sampling (d4, d5, d6, d7, d10 and d11). Post feeding of (13)C-labelled substrate, breath analysis showed that (13)C-inulin cleared from the host within a period of 36 hours. Faecal (13)C demonstrated the clearance of inulin from gut with a (13)C excess reaching maximum at 24 hours (d5) and then declining gradually. There were greater variations in caecal organic acid concentrations from d4 to d6, with higher concentrations of acetic, butyric and propionic acids observed in the rats fed inulin compared to those fed cellulose. Inulin influenced caecal microbial glycosidase activity, increased colon crypt depth, and decreased the faecal output and polysaccharide content compared to the cellulose diet. In summary, the presence of inulin in the diet positively influenced large bowel microbial fermentation. PMID:26778667

  12. Posttraumatic Stress Disorder among Danish Soldiers 2.5 Years after Military Deployment in Afghanistan: The Role of Personality Traits as Predisposing Risk Factors

    Janne Hellerup Nielsen

    2015-02-01

    Full Text Available Understanding the development of posttraumatic stress disorder (PTSD implicates research regarding factors besides the preceding traumatic event. This study investigated the influence of predisposing personality traits on development of PTSD in a group of Danish Soldiers deployed to Afghanistan (N = 445. Using a prospective design data was collected using questionnaires including the NEO Five Factor Inventory and the Posttraumatic Stress Disorder Checklist. The results showed a PTSD-prevalence of 9.2% in the total sample 2.5 years after homecoming. Using Kruskal-Wallis, Mann-Whitney U, and Spearman¡'s rho significant relationships were identified between pre-existing personality traits of neuroticism and agreeableness with development of PTSD symptoms 2.5 years after homecoming, however, a number of additional cofounders were identified.

  13. Cytomegalovirus retinitis after central retinal vein occlusion in a patient on systemic immunosuppression: does venooclusive disease predispose to cytomegalovirus retinitis in patients already at risk?

    Welling JD

    2012-04-01

    Full Text Available John D Welling, Ahmad B Tarabishy, John ChristoforidisDepartment of Ophthalmology, Havener Eye Institute, Ohio State University, Columbus, OH, USAAbstract: Cytomegalovirus (CMV retinitis remains the most common opportunistic ocular infection in immunocompromised patients. Patients with immunocompromising diseases, such as acquired immunodeficiency syndrome, inherited immunodeficiency states, malignancies, and those on systemic immunosuppressive therapy, are known to be at risk. Recently, it has been suggested that patients undergoing intravitreal injection of immunosuppressive agents may also be predisposed. One previous case report speculated that there may be an additional risk for CMV retinitis in acquired immunodeficiency syndrome patients with venoocclusive disease. This case study presents a case of CMV retinitis following central retinal vein occlusion in a patient on systemic immunosuppressants.Keywords: cytomegalovirus retinitis, central retinal vein occlusion, immunosuppression, solid organ transplant, venous stasis, risk factor

  14. Studying Variation in Tunes

    Janssen, B.; van Kranenburg, P.

    2014-01-01

    Variation in music can be caused by different phenomena: conscious, creative manipulation of musical ideas; but also unconscious variation during music recall. It is the latter phenomenon that we wish to study: variation which occurs in oral transmission, in which a melody is taught without the help

  15. N-acetyltransferase 2 (NAT2) gene polymorphism as a predisposing factor for phenytoin intoxication in tuberculous meningitis or tuberculoma patients having seizures - A pilot study

    Adole, Prashant S.; Kharbanda, Parampreet S.; Sharma, Sadhna

    2016-01-01

    Background & objectives: Simultaneous administration of phenytoin and isoniazid (INH) in tuberculous meningitis (TBM) or tuberculoma patients with seizures results in higher plasma phenytoin level and thus phenytoin intoxication. N-acetyltransferase 2 (NAT2) enzyme catalyses two acetylation reactions in INH metabolism and NAT2 gene polymorphism leads to slow and rapid acetylators. The present study was aimed to evaluate the effect of allelic variants of N-acetyltransferase 2 (NAT2) gene as a predisposing factor for phenytoin toxicity in patients with TBM or tuberculoma having seizures, and taking INH and phenytoin simultaneously. Methods: Sixty patients with TBM or tuberculoma with seizures and taking INH and phenytoin simultaneously for a minimum period of seven days were included in study. Plasma phenytoin was measured by high performance liquid chromatography. NAT2 gene polymorphism was studied using restriction fragment length polymorphism and allele specific PCR. Results: The patients were grouped into those having phenytoin intoxication and those with normal phenytoin level, and also classified as rapid or slow acetylators by NAT2 genotyping. Genotypic analysis showed that of the seven SNPs (single nucleotide polymorphisms) of NAT2 gene studied, six mutations were found to be associated with phenytoin intoxication. For rs1041983 (C282T), rs1799929 (C481T), rs1799931 (G857A), rs1799930 (G590A), rs1208 (A803G) and rs1801280 (T341C) allelic variants, the proportion of homozygous mutant was higher in phenytoin intoxicated group than in phenytoin non-intoxicated group. Interpretation & conclusions: Homozygous mutant allele of NAT2 gene at 481site may act as a predisposing factor for phenytoin intoxication among TBM or tuberculoma patients having seizures. PMID:27488001

  16. Variation of fundamental constants

    Flambaum, V V

    2006-01-01

    We present a review of recent works devoted to the variation of the fine structure constant alpha, strong interaction and fundamental masses. There are some hints for the variation in quasar absorption spectra, Big Bang nucleosynthesis, and Oklo natural nuclear reactor data. A very promising method to search for the variation of the fundamental constants consists in comparison of different atomic clocks. Huge enhancement of the variation effects happens in transition between accidentally degenerate atomic and molecular energy levels. A new idea is to build a ``nuclear'' clock based on the ultraviolet transition between very low excited state and ground state in Thorium nucleus. This may allow to improve sensitivity to the variation up to 10 orders of magnitude! Huge enhancement of the variation effects is also possible in cold atomic and molecular collisions near Feschbach resonance.

  17. Asynchronous Variational Integrators

    Lew, A.; Marsden, J. E.; Ortiz, M.; West, M

    2003-01-01

    We describe a new class of asynchronous variational integrators (AVI) for nonlinear elastodynamics. The AVIs are distinguished by the following attributes: (i) The algorithms permit the selection of independent time steps in each element, and the local time steps need not bear an integral relation to each other; (ii) the algorithms derive from a spacetime form of a discrete version of Hamilton’s variational principle. As a consequence of this variational structure, the algorith...

  18. Calculus of variations

    Gelfand, I M

    2000-01-01

    Based on a series of lectures given by I. M. Gelfand at Moscow State University, this book actually goes considerably beyond the material presented in the lectures. The aim is to give a treatment of the elements of the calculus of variations in a form both easily understandable and sufficiently modern. Considerable attention is devoted to physical applications of variational methods, e.g., canonical equations, variational principles of mechanics, and conservation laws.The reader who merely wishes to become familiar with the most basic concepts and methods of the calculus of variations need on

  19. Desrama, crescimento e predisposição à podridão-do-lenho em Acacia mangium Pruning on growth and heartrot predisposing in Acacia mangium

    Helio Tonini

    2006-07-01

    Full Text Available A desrama é um procedimento que aumenta o valor e a qualidade da madeira. Entretanto, se realizada de forma inadequada pode reduzir o crescimento e constituir fator de predisposição à podridão-do-lenho. O objetivo deste trabalho foi estudar o efeito da intensidade e época da desrama sobre o crescimento inicial e incidência de árvores com ferimentos não cicatrizados de Acacia mangium. Foi instalado um experimento em delineamento de blocos ao acaso, com três repetições e cinco tratamentos: testemunha (sem desrama; desrama de troncos múltiplos e galhos a 50 e 70% da altura, em época de baixa e alta pluviosidade. As avaliações de crescimento e presença de ferimentos não cicatrizados foram feitas seis meses depois da aplicação dos tratamentos. A época e a intensidade de desrama, quando efetuadas aos 8 e 13 meses, não afetaram o crescimento em diâmetro e altura. Houve boa cicatrização de ferimentos em árvores desramadas oito meses depois do plantio, em época de baixa pluviosidade, independentemente da intensidade. Árvores desramadas aos 13 meses depois do plantio, em época de alta pluviosidade, demonstraram predisposição à podridão-do-lenho.Pruning increases quality and economic value of the wood. Inadequate pruning procedures, however, interfere negatively on growth and consist on a predisposing factor to heartrot. The objective of this work was to investigate the effect of intensity and season of pruning on initial growth and on incidence of Acacia mangium trees with non-occluded wounds. The experimental design was in randomized blocks with three replicates and five treatments: control (without pruning; pruning and singling at 50 and 70% of total height, in low and high precipitation season. Growth evaluations and the presence of non-occluded wounds were performed six months after treatments application. The season and intensity of pruning operations did not influence height and diameter growth. Efficient wound

  20. The Variational Fair Autoencoder

    C. Louizos; K. Swersky; Y. Li; M. Welling; R. Zemel

    2016-01-01

    We investigate the problem of learning representations that are invariant to certain nuisance or sensitive factors of variation in the data while retaining as much of the remaining information as possible. Our model is based on a variational autoencoding architecture with priors that encourage indep

  1. Loss of PKBβ/Akt2 predisposes mice to ovarian cyst formation and increases the severity of polycystic ovary formation in vivo

    David F. Restuccia

    2012-05-01

    Ovarian cysts affect women of all ages and decrease fertility. In particular, polycystic ovarian syndrome (PCOS, in which multiple follicular cysts develop, affects 5–10% of women of reproductive age and can result in infertility. Current non-invasive treatments for PCOS can resolve cysts and restore fertility, but unresponsive patients must undergo severe ovarian wedge resection and resort to in vitro fertilization. PCOS is related to the deregulation of leutinizing hormone (LH signaling at various levels of the hypothalamic-pituitary-ovarian axis and resultant hyperproduction of androgens. Because insulin resistance and compensatory hyperinsulinemia are observed in 50–70% of individuals with PCOS, deregulated insulin signaling in the ovary is considered an important factor in the disease. Here we report that aged mice specifically lacking the PKBβ (also known as Akt2 isoform that is crucial for insulin signaling develop increased testosterone levels and ovarian cysts, both of which are also observed in insulin-resistant PCOS patients. Young PKBβ knockout mice were used to model PCOS by treatment with LH and exhibited a cyst area that was threefold greater than in controls, but without hyperinsulinemia. Thus, loss of PKBβ might predispose mice to ovarian cysts independently of hyperactive insulin signaling. Targeted therapeutic augmentation of specific PKBβ signaling could therefore provide a new avenue for the treatment and management of ovarian cysts.

  2. Ensembl variation resources

    Marin-Garcia Pablo

    2010-05-01

    Full Text Available Abstract Background The maturing field of genomics is rapidly increasing the number of sequenced genomes and producing more information from those previously sequenced. Much of this additional information is variation data derived from sampling multiple individuals of a given species with the goal of discovering new variants and characterising the population frequencies of the variants that are already known. These data have immense value for many studies, including those designed to understand evolution and connect genotype to phenotype. Maximising the utility of the data requires that it be stored in an accessible manner that facilitates the integration of variation data with other genome resources such as gene annotation and comparative genomics. Description The Ensembl project provides comprehensive and integrated variation resources for a wide variety of chordate genomes. This paper provides a detailed description of the sources of data and the methods for creating the Ensembl variation databases. It also explores the utility of the information by explaining the range of query options available, from using interactive web displays, to online data mining tools and connecting directly to the data servers programmatically. It gives a good overview of the variation resources and future plans for expanding the variation data within Ensembl. Conclusions Variation data is an important key to understanding the functional and phenotypic differences between individuals. The development of new sequencing and genotyping technologies is greatly increasing the amount of variation data known for almost all genomes. The Ensembl variation resources are integrated into the Ensembl genome browser and provide a comprehensive way to access this data in the context of a widely used genome bioinformatics system. All Ensembl data is freely available at http://www.ensembl.org and from the public MySQL database server at ensembldb.ensembl.org.

  3. Theory of conjectural variations

    Jean-Marie, Alain

    2004-01-01

    We have witnessed in recent years a revival of Conjectural Variations in Game Theory. This reincarnation of an old idea, using a dynamic point of view, aims at combining the adequacy with facts to the requirements of a firmly grounded theory. This book presents, for the first time, a comprehensive account of conjectural variations equilibria in their static inceptions, featuring new comparative results of equilibria with regard to efficiency. It then describes several advances in Dynamic Game Theory, allowing to understand Conjectural Variations Equilibria as dynamic equilibria. The question o

  4. Quantum variational calculus

    Malinowska, Agnieszka B

    2014-01-01

    This Brief puts together two subjects, quantum and variational calculi by considering variational problems involving Hahn quantum operators. The main advantage of its results is that they are able to deal with nondifferentiable (even discontinuous) functions, which are important in applications. Possible applications in economics are discussed. Economists model time as continuous or discrete. Although individual economic decisions are generally made at discrete time intervals, they may well be less than perfectly synchronized in ways discrete models postulate. On the other hand, the usual assumption that economic activity takes place continuously, is nothing else than a convenient abstraction that in many applications is far from reality. The Hahn quantum calculus helps to bridge the gap between the two families of models: continuous and discrete. Quantum Variational Calculus is self-contained and unified in presentation. It provides an opportunity for an introduction to the quantum calculus of variations fo...

  5. Variational Inequalities with Applications

    Sofonea, Mircea

    2009-01-01

    Motivated by stimulating problems in contact mechanics, emphasizing antiplane frictional contact with linearly elastic and viscoelastic materials, this book focuses on the essentials with respect to the qualitative aspects of several classes of variational inequalities (VIs)

  6. Variational principles in physics

    Basdevant, Jean-Louis

    2007-01-01

    Optimization under constraints is an essential part of everyday life. Indeed, we routinely solve problems by striking a balance between contradictory interests, individual desires and material contingencies. This notion of equilibrium was dear to thinkers of the enlightenment, as illustrated by Montesquieu’s famous formulation: "In all magistracies, the greatness of the power must be compensated by the brevity of the duration." Astonishingly, natural laws are guided by a similar principle. Variational principles have proven to be surprisingly fertile. For example, Fermat used variational methods to demonstrate that light follows the fastest route from one point to another, an idea which came to be known as Fermat’s principle, a cornerstone of geometrical optics. Variational Principles in Physics explains variational principles and charts their use throughout modern physics. The heart of the book is devoted to the analytical mechanics of Lagrange and Hamilton, the basic tools of any physicist. Prof. Basdev...

  7. Evaluation of molecular genetic variation associated with deep venous thrombosis in lower limb fractures in traumatic patients

    Ali Tabrizi

    2012-01-01

    Full Text Available Background: Genetic variation in multiple genes associated with hemostasis and thrombosis is well documented to impact the rates of future venous thromboembolism; in addition, trauma and orthopedic surgery in lower limb and immobilization are important factors in increasing the incidence of thrombosis. Gene mutation can be predisposing factor for thrombosis in traumatic patients under anti-coagulant agent prophylaxis. The aim of this study is to evaluate the different gene mutations in these patients. Materials and Methods: In this cross-sectional descriptive study, the sample consisted of 53 patients with deep venous thrombosis (DVT and 32 traumatic patients without thrombosis as the control group. Two groups matched together according to sex, age, weight, and medications. DNA analysis for mutation of multivariate of genes in thrombosis was studied. Results: Regarding gene variations, there was statistically significant difference only in Prothrombin (Factor II, G20210A between the patients with thrombosis and control group (P = 0.01. But, there was no difference between two groups considering other gene mutations. Mutation of Prothrombin gene (G20210A was a predictive factor for thrombosis with odds ratio of 1.1 (CI 0.3-1.9. Conclusion: According to the outcomes resulted from this study, genetic mutation in Prothrombin (Factor II [G20210A] is one of the most important genetic variations involved in traumatic patients with DVT despite prophylaxis. Genetic mutation in Prothrombin appears to be predisposing factor for thrombosis associated with trauma.

  8. Variational time integrators

    Lew, A.; Marsden, J. E.; Ortiz, M.; West, M

    2004-01-01

    The purpose of this paper is to review and further develop the subject of variational integration algorithms as it applies to mechanical systems of engineering interest. In particular, the conservation properties of both synchronous and asynchronous variational integrators (AVIs) are discussed in detail. We present selected numerical examples which demonstrate the excellent accuracy, conservation and convergence characteristics of AVIs. In these tests, AVIs are found to result in substantial ...

  9. Generalized quasi variational inequalities

    Noor, M.A. [King Saud Univ., Riyadh (Saudi Arabia)

    1996-12-31

    In this paper, we establish the equivalence between the generalized quasi variational inequalities and the generalized implicit Wiener-Hopf equations using essentially the projection technique. This equivalence is used to suggest and analyze a number of new iterative algorithms for solving generalized quasi variational inequalities and the related complementarity problems. The convergence criteria is also considered. The results proved in this paper represent a significant improvement and refinement of the previously known results.

  10. Chromatic variations suppress suprathreshold brightness variations.

    Kingdom, Frederick A A; Bell, Jason; Gheorghiu, Elena; Malkoc, Gokhan

    2010-01-01

    Most objects in natural scenes are suprathreshold in both color (chromatic) and luminance contrast. How salient is each dimension? We have developed a novel method employing a stimulus similar to that used by B. C. Regan and J. D. Mollon (1997) who studied the relative saliencies of the two chromatic cardinal directions. Our stimuli consist of left- and right-oblique modulations of color and/or luminance defined within a lattice of circles. In the "separated" condition, the two modulations were presented separately as forced-choice pairs, and the task was to indicate which was more salient. In the "combined" condition, the two orthogonal-in-orientation modulations were added, and the task was to indicate the more salient orientation. The ratio of color to luminance contrast at the PSE was calculated for both conditions. Across color directions, 48% more luminance contrast relative to color contrast was required to achieve a PSE in the "combined" compared to the "separated" condition. A second experiment showed that the PSE difference was due to the luminance being masked by the color, rather than due to superior color grouping. We conclude that suprathreshold brightness variations are masked by suprathreshold color variations. PMID:20884478

  11. Variation in Metaphor Variation in Metaphor

    Zóltan Kövecses

    2010-05-01

    Full Text Available

    Cognitive linguists have so far paid a great deal of attention to the emarkable universality of many conceptual metaphors. However, their theories fail to account for the equally impressive diversity of metaphorical conceptualization both across and within cultures. The present paper is an attempt to lay down the foundations of a theory of metaphor that is capable of simultaneously accounting for both universality and variation in metaphor.

     

    Cognitive linguists have so far paid a great deal of attention to the emarkable universality of many conceptual metaphors. However, their theories fail to account for the equally impressive diversity of metaphorical conceptualization both across and within cultures. The present paper is an attempt to lay down the foundations of a theory of metaphor that is capable of simultaneously accounting for both universality and variation in metaphor.

  12. Strain and cocaine-induced differential opioid gene expression may predispose Lewis but not Fischer rats to escalate cocaine self-administration.

    Valenza, Marta; Picetti, Roberto; Yuferov, Vadim; Butelman, Eduardo R; Kreek, Mary Jeanne

    2016-06-01

    The aim of the present study was to investigate alterations in gene expression of opioid system components induced by extended access (18 h) cocaine self-administration and to determine the impact of genetic background in the vulnerability to escalate cocaine intake. Comparing two inbred rat strains, we previously reported that Lewis rats progressively escalated cocaine consumption compared to Fischer rats, in a new translational model of intravenous cocaine self-administration, which included 14 sessions of 18-h operant sessions in which rats were allowed to select the cocaine unit dose to self-administer. We compare here Fischer and Lewis rats in the gene expression of endogenous opioid peptides (Pomc, Penk, Pdyn) and cognate receptors (Oprm, Oprk and Oprd) in reward-related brain regions, after exposure to either cocaine self-administration or yoked-saline, in the aforementioned translational paradigm. We performed a correlation analysis between the mRNA level, found in the Dorsal Striatum (DS), Nucleus accumbens (NAcc) shell and core respectively, and individual cocaine intake. Our findings show that the gene expression of all the aforementioned opioid genes exhibit strain-dependent differences in the DS, in absence of cocaine exposure. Also, different strain-specific cocaine-induced mRNA expression of Oprm and Oprk was found in DS. Only few differences were found in the ventral parts of the striatum. Moreover, gene expression level of Pdyn, Penk, Oprk, and Oprm in the DS was significantly correlated with cocaine intake only in Fischer rats. Overall, these data shed light on potential genetic differences which may predispose of subjects to initiate and escalate cocaine consumption. PMID:26777278

  13. A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan.

    Yoko Yoshida

    Full Text Available For thrombotic microangiopathies (TMAs, the diagnosis of atypical hemolytic uremic syndrome (aHUS is made by ruling out Shiga toxin-producing Escherichia coli (STEC-associated HUS and ADAMTS13 activity-deficient thrombotic thrombocytopenic purpura (TTP, often using the exclusion criteria for secondary TMAs. Nowadays, assays for ADAMTS13 activity and evaluation for STEC infection can be performed within a few hours. However, a confident diagnosis of aHUS often requires comprehensive gene analysis of the alternative complement activation pathway, which usually takes at least several weeks. However, predisposing genetic abnormalities are only identified in approximately 70% of aHUS. To facilitate the diagnosis of complement-mediated aHUS, we describe a quantitative hemolytic assay using sheep red blood cells (RBCs and human citrated plasma, spiked with or without a novel inhibitory anti-complement factor H (CFH monoclonal antibody. Among 45 aHUS patients in Japan, 24% (11/45 had moderate-to-severe (≥50% hemolysis, whereas the remaining 76% (34/45 patients had mild or no hemolysis (<50%. The former group is largely attributed to CFH-related abnormalities, and the latter group has C3-p.I1157T mutations (16/34, which were identified by restriction fragment length polymorphism (RFLP analysis. Thus, a quantitative hemolytic assay coupled with RFLP analysis enabled the early diagnosis of complement-mediated aHUS in 60% (27/45 of patients in Japan within a week of presentation. We hypothesize that this novel quantitative hemolytic assay would be more useful in a Caucasian population, who may have a higher proportion of CFH mutations than Japanese patients.

  14. Analysis of predisposing factors of idiopathic macular epiretinal membrane%特发性黄斑视网膜前膜的易感因素分析

    祖媛媛; 刘铁城

    2015-01-01

    Objective To explore the predisposing factors of idiopathic macular epiretinal membrane, and provide clinical guidance for prevention and early diagnosis of idiopathic macular epiretinal membrane.Methods Clinical data about 80 patients (80 eyes) with idiopathic macular epiretinal membrane admitted to our hospital from April 2013 to April 2014 were retrospectively analyzed. The 80 eyes with idiopathic macular epiretinal membrane were served as the observation group and the normal eyes (n=80) of the 80 patients were served as the function control group. Another 80 patients (160 eyes) without idiopathic macular epiretinal membrane who admitted to our hospital were served as the control group.Results The best corrected visual acuity of the observation group was below 1.0, 14 eyes in the function control group showed best corrected visual acuity below 1.0, and 9 eyes in the control group showed best corrected visual acuity below 1.0. The best corrected visual acuity of observation group was worse than that of function control group and control group with statistically significant differences (P0.05). There were 51 cases with diabetes and 59 cases with hyperlipidaemia in the observation group, which was more than control group with statistically significant differences (P0.05).观察组与对照组的年龄及性别组成差异均无统计学意义(P>0.05).观察组患有糖尿病51例,高脂血症59例,较对照组患病人数多,差异有统计学意义(P<0.05).结论 糖尿病和高脂血症是特发性黄斑前膜的易感因素.

  15. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.

    Mia Olsson

    2011-03-01

    Full Text Available Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly selected for a distinctive thick and heavily folded skin. In this study, a mutation affecting both these traits was identified. Using genome-wide SNP analysis of Shar-Pei and other breeds, the strongest signal of a breed-specific selective sweep was located on chromosome 13. The same region also harbored the strongest genome-wide association (GWA signal for susceptibility to the periodic fever syndrome (p(raw = 2.3 × 10⁻⁶, p(genome = 0.01. Dense targeted resequencing revealed two partially overlapping duplications, 14.3 Kb and 16.1 Kb in size, unique to Shar-Pei and upstream of the Hyaluronic Acid Synthase 2 (HAS2 gene. HAS2 encodes the rate-limiting enzyme synthesizing hyaluronan (HA, a major component of the skin. HA is up-regulated and accumulates in the thickened skin of Shar-Pei. A high copy number of the 16.1 Kb duplication was associated with an increased expression of HAS2 as well as the periodic fever syndrome (p < 0.0001. When fragmented, HA can act as a trigger of the innate immune system and stimulate sterile fever and inflammation. The strong selection for the skin phenotype therefore appears to enrich for a pleiotropic mutation predisposing these dogs to a periodic fever syndrome. The identification of HA as a major risk factor for this canine disease raises the potential of this glycosaminoglycan as a risk factor for human periodic fevers and as an important driver of chronic inflammation.

  16. Fatores predisponentes das complicações incisionaisde laparotomias medianas em eqüinos Predisposal factors to incisional complications of ventral midline laparotomies in horses

    Geane Maciel Pagliosa

    2004-10-01

    Full Text Available As complicações incisionais após laparotomia mediana em eqüinos têm prevalência de 35 a 87,5% e levam a aumento no período de convalescença ou mesmo ao óbito. Os fatores predisponentes destas complicações são pouco abordados na literatura médica eqüina e são inerentes ao paciente, ao ato cirúrgico, à anestesia e ao período pós-operatório. Considerações sobre os cuidados no pré-operatório, tamanho da incisão, roupa do cirurgião, escolha do fio cirúrgico e as condições clínicas e comportamentais do eqüino são salientadas entre os fatores predisponentes que, quando bem conhecidos, podem ser melhor administrados, no sentido de minimizar as complicações incisionais na laparotomia mediana.Incisional complications after equine midline laparotomy have an incidence of 35 to 87.5% and lead an increase in the convalescence period or to death. Predisposed factors to these complications are little approached in the equine medicine literature and consist of inherent factors to the patient, surgery, anesthesia and postoperative period. Preoperative cares, size of the incision, surgeon clothes, the choice of the suture material and equine clinical and behaviour conditions may be considered and well known in order to decrease the incisional complications after the midline laparotomy.

  17. Behaviour patterns which may predispose to HIV infection or further transmission and possible intervention strategy in the City of Harare. Part II.

    Moyo, I M; Ray, C S; Chisvo, D; Gumbo, N; Low, A; Katsumbe, T M; Mbengeranwa, O L

    1993-11-01

    The proportion of people with AIDS is increasing rapidly in Zimbabwe. Several strategies have been adopted to check the further spread of the disease. This paper discusses the behaviour patterns which may predispose to HIV infection and possible intervention strategies that may be taken in the City of Harare. Over a third (33.9 pc, n = 1,526) of the married respondents reported that they were living separately from their spouses. There was a high proportion (76.6 pc, n = 564) of single respondents who admitted to engaging in premarital sex. Fifteen pc of total respondents were engaging in casual sex. The proportion of single respondents (31.2 pc) engaging in casual sex was higher than among the married (11.1 pc). More single respondents (10.9 pc) had been paid for sex than the married (4.1 pc) whilst the proportion that had been paid for sex was similar for the single (21.2 pc) and the married (22.9 pc). The median age for starting sex was 17 years (range = three to 26) for the single and 18 years (range = four to 35) for the married respondents. Sixteen pc stated that they had an STD in 1989. Condom usage was low with only 9.2 pc always using a condom. Forty eight pc of the married respondents who have engaged in casual sexual relationships never use condoms. The main source of information on AIDS/HIV was the radio (74 pc). Most parents (66 pc) had not talked about AIDS to their children. PMID:8055550

  18. Can certain genotypes predispose to poor asthma control in children? A pharmacogenetic study of 9 candidate genes in children with difficult asthma.

    Basima Almomani

    Full Text Available OBJECTIVE: We tested the hypothesis that patients with difficult asthma have an increased frequency of certain genotypes that predispose them to asthma exacerbations and poor asthma control. METHODS: A total of 180 Caucasian children with confirmed asthma diagnosis were selected from two phenotypic groups; difficult (n = 112 versus mild/moderate asthma (n = 68 groups. All patients were screened for 19 polymorphisms in 9 candidate genes to evaluate their association with difficult asthma. KEY RESULTS: The results indicated that LTA4H A-9188>G, TNFα G-308>A and IL-4Rα A1727>G polymorphisms were significantly associated with the development of difficult asthma in paediatric patients (pC, IL-4Rα T1570>C and IL-4Rα A1727>G and CA haplotype of TNFα C-863>A and TNFα G-308>A polymorphisms which were significantly associated with difficult asthma in children (p = 0.04 and p = 0.018, respectively. CONCLUSIONS AND CLINICAL RELEVANCE: The study revealed multiple SNPs and haplotypes in LTA4H, TNFα and IL4-Rα genes which constitute risk factors for the development of difficult asthma in children. Of particular interest is the LTA4H A-9188>G polymorphism which has been reported, for the first time, to have strong association with severe asthma in children. Our results suggest that screening for patients with this genetic marker could help characterise the heterogeneity of responses to leukotriene-modifying medications and, hence, facilitate targeting these therapies to the subset of patients who are most likely to gain benefit.

  19. Investigation of the Association Between Bone Mineral Density and Predisposing Factors in Osteoporotic Postmenopausal Women in a Sample of Patients From Gaziantep and Trabzon

    Ercan Madenci

    2003-09-01

    Full Text Available Our objective was to investigate the association between the bone mineral density and risk factors predisposing to osteoporosis as well as impact of regional factors on bone mineral density by comparing the data obtained from patients who lived in Gaziantep (a province in the south east of this country and Trabzon (a province in the north east of this country. Included in the study were 318 patients, of whom 162 were from Gaziantep and 156 from Trabzon. Bone mineral density of the patients was measured with DEXA, and those who had a t score below (-2.0 SD on bone mineral density measurement in the back and hip regions were included in the study. An osteoporosis follow up questionnaire that was modified from MEDOS study questionnaire was filled. The patients who lived in Gaziantep were fatter than those who lived in Trabzon (p0.05. The bone mineral density (L2-4 femur (total and Wards triangle of the patients who lived in Trabzon was significantly lower than in Gaziantep (p0.05. White skin color and high tea consumption were more common in the second group (p<0.001. Some parameters like dark or wheat skin and black eye color, birth and abortion rate, and sun bathing habis were more common in the first group (p<0.001. In conclusion, fist and cost effective option to estimate whether the patient carries a high risk is to evaluate the place where the patient lives as well the habits and traditions. The proceeding bone mineral density measurement will help to diagnose the disease. We believe that this approach will help not only for early diagnosis of osteoporosis but also useful economically.

  20. Methodology for Safety Assessment Applied to Predisposal Waste Management. Report of the Results of the International Project on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) 2004–2010)

    Report of the Results of the International Project on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) (2004–2010) The IAEA’s progamme on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) focused on approaches and mechanisms for application of safety assessment methodologies for the predisposal management of radioactive waste. The initial outcome of the SADRWMS Project was achieved through the development of flowcharts, which have since been incorporated into IAEA Safety Standards Series No. GSG-3, Safety Case and Safety Assessment for Predisposal Management of Radioactive Waste. In 2005, an initial specification was developed for the Safety Assessment Framework (SAFRAN) software tool to apply the SADRWMS flowcharts. In 2008, an in-depth application of the SAFRAN tool and the SADRWMS methodology was carried out on the predisposal management facilities of the Thailand Institute of Nuclear Technology Radioactive Waste Management Centre (TINT Facility). This publication summarizes the content and outcomes of the SADRWMS programme. The Chairman’s Report of the SADRWMS Project and the Report of the TINT test case are provided on the CD-ROM which accompanies this report

  1. Methodology for Safety Assessment Applied to Predisposal Waste Management. Report of the Results of the International Project on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) 2004–2010). Companion CD-ROM

    Report of the Results of the International Project on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) (2004–2010) The IAEA’s progamme on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) focused on approaches and mechanisms for application of safety assessment methodologies for the predisposal management of radioactive waste. The initial outcome of the SADRWMS Project was achieved through the development of flowcharts, which have since been incorporated into IAEA Safety Standards Series No. GSG-3, Safety Case and Safety Assessment for Predisposal Management of Radioactive Waste. In 2005, an initial specification was developed for the Safety Assessment Framework (SAFRAN) software tool to apply the SADRWMS flowcharts. In 2008, an in-depth application of the SAFRAN tool and the SADRWMS methodology was carried out on the predisposal management facilities of the Thailand Institute of Nuclear Technology Radioactive Waste Management Centre (TINT Facility). This publication summarizes the content and outcomes of the SADRWMS programme. The Chairman’s Report of the SADRWMS Project and the Report of the TINT test case are provided on this CD-ROM which accompanies the report

  2. Mediterranean sea level variations.

    Vigo, I.; Sánchez Reales, J. M.; García, D.; Chao, B. F.

    2009-04-01

    In this work we report an updated study of the sea level variations for the Mediterranean sea for the period from October 1992 to January 2008. The study addresses two mayor issues: (i)The analysis of the spatial and temporal variability of sea surface height (SSH) from radar altimetry measurements (from TOPEX/Poseidon (T/P) + Jason-1, etc.). We use EOF analysis to explain most of its interannual variation, and how the different basins interact. (ii) The analysis of dynamics and balance of water mass transport for the whole period. We estimate the steric SSH by combining the steric SSH estimated from temperature and salt profiles simulated by the ECCO model with time-variable gravity (TVG) data (from GRACE) for the Mediterranean Sea. The estimated steric SSH together with the SSH obtained from altimetry allow for a more realistic estimation of the water mass variations in the Mediterranean for the whole period.

  3. Variation and Synthetic Speech

    Miller, C; Massey, N; Miller, Corey; Karaali, Orhan; Massey, Noel

    1997-01-01

    We describe the approach to linguistic variation taken by the Motorola speech synthesizer. A pan-dialectal pronunciation dictionary is described, which serves as the training data for a neural network based letter-to-sound converter. Subsequent to dictionary retrieval or letter-to-sound generation, pronunciations are submitted a neural network based postlexical module. The postlexical module has been trained on aligned dictionary pronunciations and hand-labeled narrow phonetic transcriptions. This architecture permits the learning of individual postlexical variation, and can be retrained for each speaker whose voice is being modeled for synthesis. Learning variation in this way can result in greater naturalness for the synthetic speech that is produced by the system.

  4. Essential Variational Poisson Cohomology

    De Sole, Alberto; Kac, Victor G.

    2012-08-01

    In our recent paper "The variational Poisson cohomology" (2011) we computed the dimension of the variational Poisson cohomology {{{H}^bullet_K({V})}} for any quasiconstant coefficient ℓ × ℓ matrix differential operator K of order N with invertible leading coefficient, provided that {{{V}}} is a normal algebra of differential functions over a linearly closed differential field. In the present paper we show that, for K skewadjoint, the {{{Z}}} -graded Lie superalgebra {{{H}^bullet_K({V})}} is isomorphic to the finite dimensional Lie superalgebra {{widetilde{H}(Nell,S)}} . We also prove that the subalgebra of "essential" variational Poisson cohomology, consisting of classes vanishing on the Casimirs of K, is zero. This vanishing result has applications to the theory of bi-Hamiltonian structures and their deformations. At the end of the paper we consider also the translation invariant case.

  5. Asynchronous Variational Contact Mechanics

    Vouga, Etienne; Tamstorf, Rasmus; Grinspun, Eitan

    2010-01-01

    An asynchronous, variational method for simulating elastica in complex contact and impact scenarios is developed. Asynchronous Variational Integrators (AVIs) are extended to handle contact forces by associating different time steps to forces instead of to spatial elements. By discretizing a barrier potential by an infinite sum of nested quadratic potentials, these extended AVIs are used to resolve contact while obeying momentum- and energy-conservation laws. A series of two- and three-dimensional examples illustrate the robustness and good energy behavior of the method.

  6. CT characterization of developmental variations of the paranasal sinuses in cystic fibrosis

    Purpose: To describe variations of paranasal sinus development in patients with cystic fibrosis (CF) and in non-CF patients examined for inflammatory sinonasal disease. We focused on anatomic variants that predispose to orbital and cerebral penetration during functional endoscopic sinus surgery (FESS), e.g. hypoplasia of the maxillary sinus and low ethmoid roof. Material and Methods: One hundred and sixteen CF patients (3-54 years, median 18) and 136 control patients (7-51 years, median 31) were examined with coronal CT of the paranasal sinuses. CF patients were grouped according to number of confirmed mutations: CF-2 (n=70), CF-1 (n=32), CF-0 (n=14). CT images were evaluated with respect to paranasal sinus development, pneumatization variants and bony variants. Results: Frontal sinus aplasia and maxillary, ethmoid, and sphenoid sinus hypoplasia were markedly more frequent in CF-2 than in control patients. No CF-2 patient had pneumatization variants such as Haller cells or concha bullosa. Low ethmoid roof was seen in 30% of CF-2 children, but in no control children. CF-1 and CF-0 groups had prevalences of aplasia and hypoplasia intermediate to that of CF-2 and control patients. Conclusion: Genetically verified CF patients had less developed sinuses, lacked pneumatization variants, and more often had anatomic variants that predispose to complications during FESS. Normally developed sinuses and pneumatization variants in some genetically unverified CF patients (CF-1, CF-0) suggest that these patients may be erroneously diagnosed

  7. Bounded variation and around

    Appell, Jürgen; Merentes Díaz, Nelson José

    2013-01-01

    This monographis a self-contained exposition of the definition and properties of functionsof bounded variation and their various generalizations; the analytical properties of nonlinear composition operators in spaces of such functions; applications to Fourier analysis, nonlinear integral equations, and boundary value problems. The book is written for non-specialists. Every chapter closes with a list of exercises and open problems.

  8. Variational transition state theory

    Truhlar, D.G. [Univ. of Minnesota, Minneapolis (United States)

    1993-12-01

    This research program involves the development of variational transition state theory (VTST) and semiclassical tunneling methods for the calculation of gas-phase reaction rates and selected applications. The applications are selected for their fundamental interest and/or their relevance to combustion.

  9. Seasonal Variation in Epidemiology

    Marrero, Osvaldo

    2013-01-01

    Seasonality analyses are important in medical research. If the incidence of a disease shows a seasonal pattern, then an environmental factor must be considered in its etiology. We discuss a method for the simultaneous analysis of seasonal variation in multiple groups. The nuts and bolts are explained using simple trigonometry, an elementary…

  10. Natural 14C variations

    This thesis deals with the natural variations in the atmospheric 14C activity, their geophysical origin and their impact on radiocarbon dating. Studies confirm the idea that one is dealing with a mechanism of a certain regularity. The correlation between a 14C variation during the Little Ice Age and the absence of sunspots on the solar surface suggest the sun to be responsible for some kind of modulation of the galactic cosmic ray spectrum. The background of a changing natural 14C level is relevant when studying the antropogenic perturbation of the atmospheric 14C concentration by the addition of CO2 from fossil fuel combustion. The results presented point to a Suess effect over the past 150 years of about 20 per thousand, but also show a local dilution effect. If this local effect is present over large continental parts of the Northern Hemisphere this will put limits to the use of tree ring 14C measurements for testing carbon reservoir models. Finally the influence of 14C variations upon the interpretations of 14C dates for archaeological and geological purposes has been investigated. It is shown that care must be taken especially in the interpretation of highly accurate 14C data of material only covering a few years of growth. One geological example illustrates that 14C variations can easily be interpretated as alternating fast and slow rises of the sea level. (Auth.)

  11. Variation and Linguistic Theory.

    Bailey, Charles-James N.

    This volume presents principles and models for describing language variation, and introduces a time-based, dynamic framework for linguistic description. The book first summarizes some of the problems of grammatical description encountered from Saussure through the present and then outlines possibilities for new descriptions of language which take…

  12. Prior antimicrobial therapy in the hospital and other predisposing factors influencing the usage of antibiotics in a pediatric critical care unit

    Tsorva Athina

    2004-04-01

    Full Text Available Abstract Background The aim of this study was to determine whether prior antimicrobial therapy is an important risk factor for extended antimicrobial therapy among critically ill children. To evaluate other predisposing factors influencing the usage of antibiotics in a pediatric intensive care unit (PICU setting. To examine the relationship between the extent of antimicrobial treatment and the incidence of nosocomial infections and outcome. Methods This prospective observational cohort study was conducted at a university-affiliated teaching hospital (760 beds in Athens. Clinical data were collected upon admission and on each consecutive PICU day. The primary reason for PICU admission was recorded using a modified classification for mutually exclusive disease categories. All administered antibiotics to the PICU patients were recorded during a six-month period. Microbiological and pharmacological data were also collected over this period. The cumulative per patient and the maximum per day numbers of administered antibiotics, as well as the duration of administration were related to the following factors: Number of antibiotics which the patients were already receiving the day before admission, age groups, place of origin, the severity of illness, the primary disease and its complications during the course of hospitalization, the development of nosocomial infections with positive cultures, the presence of chronic disease or immunodeficiency, various interventional techniques (mechanical ventilation, central catheters, and PICU outcome. Results During a six-month period 174 patients were admitted to the PICU and received antibiotics for a total of 950 days (62.3% of the length of stay days. While in PICU, 34 patients did not receive antimicrobial treatment (19.5%, 69 received one antibiotic (39.7%, 42 two (24.1%, 17 three (9.8%, and 12 more than three (6.9%. The number of antibiotics prescribed in PICU or at discharge did not differ from that at

  13. Diurnal variations of Titan

    Cui, J.; Galand, M.; Yelle, R. V.; Vuitton, V.; Wahlund, J.-E.; Lavvas, P. P.; Mueller-Wodarg, I. C. F.; Kasprzak, W. T.; Waite, J. H.

    2009-04-01

    We present our analysis of the diurnal variations of Titan's ionosphere (between 1,000 and 1,400 km) based on a sample of Ion Neutral Mass Spectrometer (INMS) measurements in the Open Source Ion (OSI) mode obtained from 8 close encounters of the Cassini spacecraft with Titan. Though there is an overall ion depletion well beyond the terminator, the ion content on Titan's nightside is still appreciable, with a density plateau of ~700 cm-3 below ~1,300 km. Such a plateau is associated with the combination of distinct diurnal variations of light and heavy ions. Light ions (e.g. CH5+, HCNH+, C2H5+) show strong diurnal variation, with clear bite-outs in their nightside distributions. In contrast, heavy ions (e.g. c-C3H3+, C2H3CNH+, C6H7+) present modest diurnal variation, with significant densities observed on the nightside. We propose that the distinctions between light and heavy ions are associated with their different chemical loss pathways, with the former primarily through "fast" ion-neutral chemistry and the latter through "slow" electron dissociative recombination. The INMS data suggest day-to-night transport as an important source of ions on Titan's nightside, to be distinguished from the conventional scenario of auroral ionization by magnetospheric particles as the only ionizing source on the nightside. This is supported by the strong correlation between the observed night-to-day ion density ratios and the associated ion lifetimes. We construct a time-dependent ion chemistry model to investigate the effects of day-to-night transport on the ionospheric structures of Titan. The predicted diurnal variation has similar general characteristics to those observed, with some apparent discrepancies which could be reconciled by imposing fast horizontal thermal winds in Titan's upper atmosphere.

  14. Classifying Measures of Biological Variation

    Gregorius, Hans-Rolf; Gillet, Elizabeth M

    2015-01-01

    Biological variation is commonly measured at two basic levels: variation within individual communities, and the distribution of variation over communities or within a metacommunity. We develop a classification for the measurement of biological variation on both levels: Within communities into the categories of dispersion and diversity, and within metacommunities into the categories of compositional differentiation and partitioning of variation. There are essentially two approaches to characte...

  15. The variational Poisson cohomolgy

    De Sole, Alberto

    2011-01-01

    It is well known that the validity of the so called Lenard-Magri scheme of integrability of a bi-Hamiltonian PDE can be established if one has some precise information on the corresponding 1st variational Poisson cohomology for one of the two Hamiltonian operators. In the first part of the paper we explain how to introduce various cohomology complexes, including Lie superalgebra and Poisson cohomology complexes, and basic and reduced Lie conformal algebra and Poisson vertex algebra cohomology complexes, by making use of the corresponding universal Lie superalebra or Lie conformal superalgebra. The most relevant are certain subcomplexes of the basic and reduced Poisson vertex algebra cohomology complexes, which we identify (non-canonically) with the generalized de Rham complex and the generalized variational complex. In the second part of the paper we compute the cohomology of the generalized de Rham complex, and, via a detailed study of the long exact sequence, we compute the cohomology of the generalized var...

  16. Automatic Differentiation Variational Inference

    Kucukelbir, Alp; Tran, Dustin; Ranganath, Rajesh; Gelman, Andrew; Blei, David M.

    2016-01-01

    Probabilistic modeling is iterative. A scientist posits a simple model, fits it to her data, refines it according to her analysis, and repeats. However, fitting complex models to large data is a bottleneck in this process. Deriving algorithms for new models can be both mathematically and computationally challenging, which makes it difficult to efficiently cycle through the steps. To this end, we develop automatic differentiation variational inference (ADVI). Using our method, the scientist on...

  17. Planar theory made variational

    Jackson, A.D.; Lande, A.; Smith, R.A.

    1985-04-08

    Within the framework of boson parquet-diagram summations in perturbation theory, we show analytically that several simple approximations lead inevitably to the radial distribution function g(r) which would be obtained with the Jastrow hypernetted-chain variational method. This is the first derivation of the Jastrow result from perturbation theory. Without mentioning pair correlation functions, we have a clear interpretation of g(r) and the structure function, S(k), in terms of diagram sums.

  18. Planar theory made variational

    Within the framework of boson parquet-diagram summations in perturbation theory, we show analytically that several simple approximations lead inevitably to the radial distribution function g(r) which would be obtained with the Jastrow hypernetted-chain variational method. This is the first derivation of the Jastrow result from perturbation theory. Without mentioning pair correlation functions, we have a clear interpretation of g(r) and the structure function, S(k), in terms of diagram sums

  19. Canonical variate regression.

    Luo, Chongliang; Liu, Jin; Dey, Dipak K; Chen, Kun

    2016-07-01

    In many fields, multi-view datasets, measuring multiple distinct but interrelated sets of characteristics on the same set of subjects, together with data on certain outcomes or phenotypes, are routinely collected. The objective in such a problem is often two-fold: both to explore the association structures of multiple sets of measurements and to develop a parsimonious model for predicting the future outcomes. We study a unified canonical variate regression framework to tackle the two problems simultaneously. The proposed criterion integrates multiple canonical correlation analysis with predictive modeling, balancing between the association strength of the canonical variates and their joint predictive power on the outcomes. Moreover, the proposed criterion seeks multiple sets of canonical variates simultaneously to enable the examination of their joint effects on the outcomes, and is able to handle multivariate and non-Gaussian outcomes. An efficient algorithm based on variable splitting and Lagrangian multipliers is proposed. Simulation studies show the superior performance of the proposed approach. We demonstrate the effectiveness of the proposed approach in an [Formula: see text] intercross mice study and an alcohol dependence study. PMID:26861909

  20. 老年人趾甲真菌病易感因素分析%A clinical analysis of the predisposing factors for toenail onychomycosis in the elderly

    杨敏; 鲍迎秋; 常建民

    2009-01-01

    mellitus are predisposing factors for toenail onychomycosis in the elderly.

  1. Late gestation over- and undernutrition predispose for visceral adiposity in response to a post-natal obesogenic diet, but with differential impacts on glucose-insulin adaptations during fasting in lambs

    Khanal, Prabhat; Husted, Sanne Vinter; Axel, Anne Marie Dixen;

    2014-01-01

    : Thirty-six twin-pregnant ewes were fed a NORM (fulfilling 100% of daily requirements for energy and protein), LOW (50% of NORM) or HIGH diet (150% of energy and 110% of protein requirements) during the last 6 weeks of gestation (term = 147 days). Post-natally, the twin lambs were subjected to a high...... plasma glucose, cholesterol, non-esterified fatty acids, triglyceride and lactate combined with abdominal obesity. Peri-renal fat appeared to be a particular target of a high-fat diet post-natally. Conclusion: Both prenatal under- and overnutrition predisposed for abdominal adiposity, apparently by...

  2. Introduction to global variational geometry

    Krupka, Demeter

    2015-01-01

    The book is devoted to recent research in the global variational theory on smooth manifolds. Its main objective is an extension of the classical variational calculus on Euclidean spaces to (topologically nontrivial) finite-dimensional smooth manifolds; to this purpose the methods of global analysis of differential forms are used. Emphasis is placed on the foundations of the theory of variational functionals on fibered manifolds - relevant geometric structures for variational principles in geometry, physical field theory and higher-order fibered mechanics. The book chapters include: - foundations of jet bundles and analysis of differential forms and vector fields on jet bundles, - the theory of higher-order integral variational functionals for sections of a fibred space, the (global) first variational formula in infinitesimal and integral forms- extremal conditions and the discussion of Noether symmetries and generalizations,- the inverse problems of the calculus of variations of Helmholtz type- variational se...

  3. Copy number variations in alternative splicing gene networks impact lifespan.

    Joseph T Glessner

    Full Text Available Longevity has a strong genetic component evidenced by family-based studies. Lipoprotein metabolism, FOXO proteins, and insulin/IGF-1 signaling pathways in model systems have shown polygenic variations predisposing to shorter lifespan. To test the hypothesis that rare variants could influence lifespan, we compared the rates of CNVs in healthy children (0-18 years of age with individuals 67 years or older. CNVs at a significantly higher frequency in the pediatric cohort were considered risk variants impacting lifespan, while those enriched in the geriatric cohort were considered longevity protective variants. We performed a whole-genome CNV analysis on 7,313 children and 2,701 adults of European ancestry genotyped with 302,108 SNP probes. Positive findings were evaluated in an independent cohort of 2,079 pediatric and 4,692 geriatric subjects. We detected 8 deletions and 10 duplications that were enriched in the pediatric group (P=3.33×10(-8-1.6×10(-2 unadjusted, while only one duplication was enriched in the geriatric cohort (P=6.3×10(-4. Population stratification correction resulted in 5 deletions and 3 duplications remaining significant (P=5.16×10(-5-4.26×10(-2 in the replication cohort. Three deletions and four duplications were significant combined (combined P=3.7×10(-4-3.9×10(-2. All associated loci were experimentally validated using qPCR. Evaluation of these genes for pathway enrichment demonstrated ~50% are involved in alternative splicing (P=0.0077 Benjamini and Hochberg corrected. We conclude that genetic variations disrupting RNA splicing could have long-term biological effects impacting lifespan.

  4. Harmonically excited orbital variations

    Rephrasing the equations of motion for orbital maneuvers in terms of Lagrangian generalized coordinates instead of Newtonian rectangular cartesian coordinates can make certain harmonic terms in the orbital angular momentum vector more readily apparent. In this formulation the equations of motion adopt the form of a damped harmonic oscillator when torques are applied to the orbit in a variationally prescribed manner. The frequencies of the oscillator equation are in some ways unexpected but can nonetheless be exploited through resonant forcing functions to achieve large secular variations in the orbital elements. Two cases are discussed using a circular orbit as the control case: (1) large changes in orbital inclination achieved by harmonic excitation rather than one impulsive velocity change, and (2) periodic and secular changes to the longitude of the ascending node using both stable and unstable excitation strategies. The implications of these equations are also discussed for both artificial satellites and natural satellites. For the former, two utilitarian orbits are suggested, each exploiting a form of harmonic excitation. 5 refs

  5. The P9 pocket of HLA-DQ2 (non-Aspbeta57) has no particular preference for negatively charged anchor residues found in other type 1 diabetes-predisposing non-Aspbeta57 MHC class II molecules

    Quarsten, H; Paulsen, G; Johansen, B H;

    1998-01-01

    Susceptibility and resistance to type 1 diabetes are associated with MHC class II alleles that carry non-Asp and Asp at residue 57 of their beta chain respectively. The effect of Asp or non-Aspbeta57 may relate to a differential ability of distinct class II molecules to bind specific immuno......-pathogenic peptides. Recent studies in man and mouse have revealed that some type 1 diabetes-predisposing non-Aspbeta57 class II molecules (i.e. DQ8, DR4Dw15 and I-Ag7) preferentially bind peptides with a negatively charged anchor residue at P9. It has been suggested that this is a common feature of type 1 diabetes......-predisposing class II molecules. The molecular explanation for such a phenomenon could be that class II beta chains with Aspbeta57 form a salt bridge between Aspbeta57 and a conserved Arg of the a chain, whereas in non-Aspbeta57 molecules the Arg is unopposed and free to interact with negatively charged P9 peptide...

  6. Dynamics of nonholonomic systems from variational principles embedded variation identity

    Nondeterminacy of dynamics, i.e., the nonholonomic or the vakonomic, fundamental variational principles, e.g., the Lagrange-d'Alembert or Hamiltonian, and variational operators, etc., of nonholonomic mechanical systems can be attributed to the non-uniqueness of ways how to realize nonholonomic constraints. Making use of a variation identity of nonholonomic constraints embedded into the Hamilton's principle with the method of Lagrange undetermined multipliers, three kinds of dynamics for the nonholonomic systems including the vakonomic and nonholonomic ones and a new one are obtained if the variation is respectively reduced to three conditional variations: vakonomic variation, Hoelder's variation and Suslov's variation, defined by the identity. Therefore, different dynamics of nonholonomic systems can be derived from an integral variational principle, utilizing one way of embedding constraints into the principle, with different variations. It is verified that the similar embedding of the identity into the Lagrange-d'Alembert principle gives rise to the nonholonomic dynamics but fails to give the vakonomic one unless the constraints are integrable.

  7. On the Variational Problems without Having Desired Variational Symmetries

    Mehdi Nadjafikhah

    2013-01-01

    Full Text Available We will have an attempt to present a method for constructing variational problems without having a desired one-parameter transformation group as a variational symmetry. For this, we use the notation of μ-symmetry which was introduced by Giuseppe Gaeta and Paola Morando in 2004. Moreover, our given method enabled us to solve those constructed variational problems using μ-symmetries.

  8. FROG - Fingerprinting Genomic Variation Ontology.

    E Abinaya

    Full Text Available Genetic variations play a crucial role in differential phenotypic outcomes. Given the complexity in establishing this correlation and the enormous data available today, it is imperative to design machine-readable, efficient methods to store, label, search and analyze this data. A semantic approach, FROG: "FingeRprinting Ontology of Genomic variations" is implemented to label variation data, based on its location, function and interactions. FROG has six levels to describe the variation annotation, namely, chromosome, DNA, RNA, protein, variations and interactions. Each level is a conceptual aggregation of logically connected attributes each of which comprises of various properties for the variant. For example, in chromosome level, one of the attributes is location of variation and which has two properties, allosomes or autosomes. Another attribute is variation kind which has four properties, namely, indel, deletion, insertion, substitution. Likewise, there are 48 attributes and 278 properties to capture the variation annotation across six levels. Each property is then assigned a bit score which in turn leads to generation of a binary fingerprint based on the combination of these properties (mostly taken from existing variation ontologies. FROG is a novel and unique method designed for the purpose of labeling the entire variation data generated till date for efficient storage, search and analysis. A web-based platform is designed as a test case for users to navigate sample datasets and generate fingerprints. The platform is available at http://ab-openlab.csir.res.in/frog.

  9. Single-Nucleotide Variations in Cardiac Arrhythmias: Prospects for Genomics and Proteomics Based Biomarker Discovery and Diagnostics

    Ayman Abunimer

    2014-03-01

    Full Text Available Cardiovascular diseases are a large contributor to causes of early death in developed countries. Some of these conditions, such as sudden cardiac death and atrial fibrillation, stem from arrhythmias—a spectrum of conditions with abnormal electrical activity in the heart. Genome-wide association studies can identify single nucleotide variations (SNVs that may predispose individuals to developing acquired forms of arrhythmias. Through manual curation of published genome-wide association studies, we have collected a comprehensive list of 75 SNVs associated with cardiac arrhythmias. Ten of the SNVs result in amino acid changes and can be used in proteomic-based detection methods. In an effort to identify additional non-synonymous mutations that affect the proteome, we analyzed the post-translational modification S-nitrosylation, which is known to affect cardiac arrhythmias. We identified loss of seven known S-nitrosylation sites due to non-synonymous single nucleotide variations (nsSNVs. For predicted nitrosylation sites we found 1429 proteins where the sites are modified due to nsSNV. Analysis of the predicted S-nitrosylation dataset for over- or under-representation (compared to the complete human proteome of pathways and functional elements shows significant statistical over-representation of the blood coagulation pathway. Gene Ontology (GO analysis displays statistically over-represented terms related to muscle contraction, receptor activity, motor activity, cystoskeleton components, and microtubule activity. Through the genomic and proteomic context of SNVs and S-nitrosylation sites presented in this study, researchers can look for variation that can predispose individuals to cardiac arrhythmias. Such attempts to elucidate mechanisms of arrhythmia thereby add yet another useful parameter in predicting susceptibility for cardiac diseases.

  10. Polarizer reflectivity variations

    On Shiva the beam energy along the chain is monitored using available reflections and/or transmission through beam steering, splitting, and polarizing optics without the intrusion of any additional glass for diagnostics. On the preamp table the diagnostic signal is obtained from the signal transmitted through turning mirrors. At the input of each chain the signal is obtained from the transmission through one of the mirrors used for the chain input alignment sensor (CHIP). At the chain output the transmission through the final turning mirror is used. These diagnostics have proved stable and reliable. However, one of the prime diagnostic locations is at the output of the beta rod. The energy at this location is measured by collecting small reflections from the last polarizer surface of the beta Pockels cell polarizer package. Unfortunately, calibration of this diagnostic has varied randomly, seldom remaining stable for a week or more. The cause of this fluctuation has been investigated for the past year and'it has been discovered that polarizer reflectivity varies with humidity. This report will deal with the possible causes that were investigated, the evidence that humidity is causing the variation, and the associated mechanism

  11. Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease?

    Villela, Darine; Suemoto, Claudia K.; Pasqualucci, Carlos A.; Grinberg, Lea T.; Rosenberg, Carla

    2016-01-01

    Dysregulation of calcium (Ca2+) homeostasis is now being recognized to be a key step in the pathogenesis of Alzheimer’s disease (AD). Data from the literature, in particular the association between AD and polymorphism that interfere with Ca2+ homeostasis indicates the presence of genetic factors in this process; further, presenilins mutations, which are known to cause the familial form of AD, are involved in the regulation of intracellular Ca2+ stores. Here, we wish to draw attention to rare DNA copy number variations identified in two subjects with late-onset AD that led to partial or full duplication of genes that encode different subunits of the same type of voltage-gated Ca2+ channels; these duplications of voltage-gated Ca2+ channel genes is consistent with the critical role of calcium signaling in molecular processes underlying memory as has been demonstrated by several studies. PMID:27379157

  12. Diurnal variation of mountain waves

    R. M. Worthington

    2006-11-01

    Full Text Available Mountain waves could be modified as the boundary layer varies between stable and convective. However case studies show mountain waves day and night, and above e.g. convective rolls with precipitation lines over mountains. VHF radar measurements of vertical wind (1990–2006 confirm a seasonal variation of mountain-wave amplitude, yet there is little diurnal variation of amplitude. Mountain-wave azimuth shows possible diurnal variation compared to wind rotation across the boundary layer.

  13. Anatomical variations in the brachial plexus roots: implications for diagnosis of neurogenic thoracic outlet syndrome.

    Leonhard, Vanessa; Smith, Riley; Caldwell, Gregory; Smith, Heather F

    2016-07-01

    Neurogenic thoracic outlet syndrome (NTOS) is the most common type of TOS. Typically it results from impingement of the neurovasculature as it passes between the anterior and middle scalene muscles; this classic anatomical relationship being the foundation of clinical diagnosis. Positional testing relies on vascular compromise occurring when the subclavian artery is compressed in this space. This study describes several anatomical variations observed in this relationship. Sixty-five cadavers (35m/30f) were assessed to determine the frequency and extent of brachial plexus branching variants. A total of thirty-one variations from "classic" anatomy were observed (47.7%). In two specimens (3.1%), the entire superior trunk coursed completely anterior to the anterior scalene in a position of relative vulnerability. In 27 instances, a portion of or the entire superior trunk pierced the anterior scalene muscle, and in two, the middle trunk also pierced the muscle belly. Interestingly, while two bilateral branching variations were observed, the majority occurred unilaterally, and almost exclusively on the left side. There were no sex differences in frequency. The high frequency of these variations and their potential to predispose patients to neurogenic TOS suggest that current diagnostic methods may be insufficient in clinical diagnosis. Due to lack of vascular compromise, patients with the piercing variant would not display positive signs on the traditional positional tests. The use of ultrasound to determine the route of the brachial plexus could determine whether this variation is present in patients who suffer from TOS symptoms but lack a diagnosis based on traditional positional testing. PMID:27133185

  14. Genotype–phenotype relationship of F7 R353Q polymorphism and plasma factor VII coagulant activity in Asian Indian families predisposed to coronary artery disease

    Jayashree Shanker; Ganapathy Perumal; Arindam Maitra; Veena S. Rao; B. K. Natesha; Shibu John; Sridhar Hebbagodi; Vijay V. Kakkar

    2009-12-01

    Elevated factor VII (FVII) level is a risk factor for coronary artery disease (CAD). We investigated the role of R353Q polymorphism in the F7 gene in 139 Indian families with CAD, comprising of 222 affected subjects, 105 unaffected subjects and 126 affected sibling pairs. Plasma per cent FVIIc activity (FVII.c activity) differed significantly across R353Q genotype ($P \\lt 0.0001$). Frequency of subjects with RR and QQ genotypes were higher in 4th quartile and 1st quartile of FVII.c activity, respectively ($P \\lt 0.0001$). F7 R353Q SNP was able to explain up to 7% of variation in FVII.c activity by regression analysis and an additive genetic component of variance of 28.04% by heritability analysis. Quantitative trait loci analysis showed suggestive linkage evidence of F7 SNP with per cent FVII.c activity (LOD score $-1.82$; $P = 0.002$). Individuals with RR and RQ genotypes carried an OR of 2.071 (95% c.i. = 1.506–2.850) and 2.472 (95% c.i. = 1.679–3.641), respectively, towards CAD risk. There was significant correlation of FVII.c activity with lipid markers, particularly among those with RR and RQ genotype after covariate adjustment. In conclusion, the F7 R353Q SNP appears to moderately influence plasma FVII.c activity and risk of CAD in Indians.

  15. A Theory of Harmonic Variations

    de Piro, Tristram

    2014-01-01

    We consider a class of "harmonic variations" for nonsingular curves, obtained as asymptotic degenerations along bitangents. On a geometric level, we obtain an attractive relationship between the class and the genus of $C$. The distribution of class points in pairs across nonsingular curves with such variations, further suggests applications to understanding covalent bonding in terms of shared electrons.

  16. Colony Variation in Staphylococcus lugdunensis

    Leung, Michael J.; Nuttall, Nichalas; Pryce, Todd M.; Coombs, Geoffrey W; Pearman, John W.

    1998-01-01

    Staphylococcus lugdunensis is being increasingly reported as a pathogen with an outcome resembling that of S. aureus rather than coagulase-negative staphylococci. Recent local isolates exhibited colonial variation that delayed identification and interpretation of clinical significance. Until now previous descriptions have not emphasized colonial variation as an important identifying characteristic of S. lugdunensis.

  17. Polymorphisms in the pituitary growth hormone gene and its receptor associated with coronary artery disease in a predisposed cohort from India

    Arindam Maitra; Jayashree Shanker; Debabrata Dash; Prathima R. Sannappa; Shibu John; Pratibha Siwach; Veena S. Rao; H. Sridhara; Vijay V. Kakkar

    2010-12-01

    We investigated the promoter polymorphisms of the pituitary growth hormone gene (GH1) and exon 3 deletion polymorphism (GHRd3) in its receptor gene (GHR) in 299 angiographically proven patients with coronary artery disease (CAD) and 231 asymptomatic controls enrolled in the ongoing Indian Atherosclerosis Research Study. Real time PCR based analysis of the GHR variant showed significant association of the GHRd3 deletion allele with CAD (OR 0.48, 95% CI: 0.30–0.76, $P = 0.0014$) and a dominant model of inheritance (Akaike information criterion = 482). The deletion allele showed significant association with high plasma HDL-c levels ($P = 0.001$). Sequencing of the proximal promoter region of GH1 revealed 12 novel polymorphisms and a TAGA haplotype constituted by the functional SNPs rs2005171, rs11568828, rs2005172 and rs6171, that showed significant association with CAD alone (adjusted OR of 3.31 (95% CI = 1.33–8.29, $P = 0.011$) and in CAD patients with diabetes ($P = 0.019$). Mean standardized height was associated with three of the four haplotype-tagging SNPs in the cohort ($P \\leq 0.03$). Eleven of the 12 polymorphic promoter SNPs contributed to 14.7% of variation in height in females in the whole dataset ($P = 0.029$). CAD patients with history of stroke exhibited marginally significantly lower mean height as compared to rest of the cohort ($P \\lt 0.006$). In conclusion, genetic polymorphisms in the GHR gene and its ligand, GH1, may modulate the risk of CAD in the Asian Indian population.

  18. Variational and quasi-variational inequalities in mechanics

    Kravchuk, Alexander S

    2007-01-01

    The essential aim of the present book is to consider a wide set of problems arising in the mathematical modelling of mechanical systems under unilateral constraints. In these investigations elastic and non-elastic deformations, friction and adhesion phenomena are taken into account. All the necessary mathematical tools are given: local boundary value problem formulations, construction of variational equations and inequalities, and the transition to minimization problems, existence and uniqueness theorems, and variational transformations (Friedrichs and Young-Fenchel-Moreau) to dual and saddle-point search problems. Important new results concern contact problems with friction. The Coulomb friction law and some others are considered, in which relative sliding velocities appear. The corresponding quasi-variational inequality is constructed, as well as the appropriate iterative method for its solution. Outlines of the variational approach to non-stationary and dissipative systems and to the construction of the go...

  19. Statistics, Uncertainty, and Transmitted Variation

    Wendelberger, Joanne Roth [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2014-11-05

    The field of Statistics provides methods for modeling and understanding data and making decisions in the presence of uncertainty. When examining response functions, variation present in the input variables will be transmitted via the response function to the output variables. This phenomenon can potentially have significant impacts on the uncertainty associated with results from subsequent analysis. This presentation will examine the concept of transmitted variation, its impact on designed experiments, and a method for identifying and estimating sources of transmitted variation in certain settings.

  20. Genome-wide analysis of copy number variation in type 1 diabetes.

    Britney L Grayson

    Full Text Available Type 1 diabetes (T1D tends to cluster in families, suggesting there may be a genetic component predisposing to disease. However, a recent large-scale genome-wide association study concluded that identified genetic factors, single nucleotide polymorphisms, do not account for overall familiality. Another class of genetic variation is the amplification or deletion of >1 kilobase segments of the genome, also termed copy number variations (CNVs. We performed genome-wide CNV analysis on a cohort of 20 unrelated adults with T1D and a control (Ctrl cohort of 20 subjects using the Affymetrix SNP Array 6.0 in combination with the Birdsuite copy number calling software. We identified 39 CNVs as enriched or depleted in T1D versus Ctrl. Additionally, we performed CNV analysis in a group of 10 monozygotic twin pairs discordant for T1D. Eleven of these 39 CNVs were also respectively enriched or depleted in the Twin cohort, suggesting that these variants may be involved in the development of islet autoimmunity, as the presently unaffected twin is at high risk for developing islet autoimmunity and T1D in his or her lifetime. These CNVs include a deletion on chromosome 6p21, near an HLA-DQ allele. CNVs were found that were both enriched or depleted in patients with or at high risk for developing T1D. These regions may represent genetic variants contributing to development of islet autoimmunity in T1D.

  1. Quality of Variational Trial States

    Lucha, Wolfgang; Lucha, Wolfgang; Schoberl, Franz F.

    1999-01-01

    Besides perturbation theory (which clearly requires the knowledge of the exact unperturbed solution), variational techniques represent the main tool for any investigation of the eigenvalue problem of some semibounded operator H in quantum theory. For a reasonable choice of the employed trial subspace of the domain of H, the lowest eigenvalues of H usually can be located with acceptable precision whereas the trial-subspace vectors corresponding to these eigenvalues approximate, in general, the exact eigenstates of H with much less accuracy. Accordingly, various measures for the accuracy of the approximate eigenstates derived by variational techniques are scrutinized. In particular, the matrix elements of the commutator of the operator H and (suitably chosen) different operators with respect to degenerate approximate eigenstates of H obtained by variational methods are proposed as new criteria for the accuracy of variational eigenstates. These considerations are applied to precisely that Hamiltonian for which t...

  2. Representing Term Variation in lemon

    Montiel-Ponsoda, Elena; Aguado de Cea, G.; McCrae, J.

    2011-01-01

    In this contribution our objective is to define term variation, analyze the state of the art, and propose a new classification of term variants according to our representation purposes in lemon, a lexiconontology model to enrich ontologies with linguistic descriptions.

  3. An Overview of Variational Integrators

    Lew, Adrian; Marsden, Jerrold E.; Ortiz, Michael; West, Matthew

    2004-01-01

    The purpose of this paper is to survey some recent advances in variational integrators for both finite dimensional mechanical systems as well as continuum mechanics. These advances include the general development of discrete mechanics, applications to dissipative systems, collisions, spacetime integration algorithms, AVI’s (Asynchronous Variational Integrators), as well as reduction for discrete mechanical systems. To keep the article within the set limits, we will only trea...

  4. Variational Gaussian Process Dynamical Systems

    Damianou, Andreas C.; Titsias, Michalis K.; Lawrence, Neil D.

    2011-01-01

    High dimensional time series are endemic in applications of machine learning such as robotics (sensor data), computational biology (gene expression data), vision (video sequences) and graphics (motion capture data). Practical nonlinear probabilistic approaches to this data are required. In this paper we introduce the variational Gaussian process dynamical system. Our work builds on recent variational approximations for Gaussian process latent variable models to allow for nonlinear dimensional...

  5. Stochastic Annealing for Variational Inference

    Gultekin, San; Zhang, Aonan; Paisley, John

    2015-01-01

    We empirically evaluate a stochastic annealing strategy for Bayesian posterior optimization with variational inference. Variational inference is a deterministic approach to approximate posterior inference in Bayesian models in which a typically non-convex objective function is locally optimized over the parameters of the approximating distribution. We investigate an annealing method for optimizing this objective with the aim of finding a better local optimal solution and compare with determin...

  6. Coupled Dark Energy field variation

    García-Zúñiga, Roberto Carlos; Izquierdo, Germán

    2014-01-01

    The variation of the dark energy field is found under the assumption that the dark energy is parametric and interacts with the cold dark matter. Considering that the variation of the field could not exceed the Planck mass, we obtain bounds on the coupling and adiabatic coefficients. Three parameterizations of the adiabatic coefficients are considered and two coupling terms where the energy flows from dark energy to dark matter, or the other way around.

  7. Variational integrators for electric circuits

    In this contribution, we develop a variational integrator for the simulation of (stochastic and multiscale) electric circuits. When considering the dynamics of an electric circuit, one is faced with three special situations: 1. The system involves external (control) forcing through external (controlled) voltage sources and resistors. 2. The system is constrained via the Kirchhoff current (KCL) and voltage laws (KVL). 3. The Lagrangian is degenerate. Based on a geometric setting, an appropriate variational formulation is presented to model the circuit from which the equations of motion are derived. A time-discrete variational formulation provides an iteration scheme for the simulation of the electric circuit. Dependent on the discretization, the intrinsic degeneracy of the system can be canceled for the discrete variational scheme. In this way, a variational integrator is constructed that gains several advantages compared to standard integration tools for circuits; in particular, a comparison to BDF methods (which are usually the method of choice for the simulation of electric circuits) shows that even for simple LCR circuits, a better energy behavior and frequency spectrum preservation can be observed using the developed variational integrator

  8. Investigation of the initial symptom, onset time and predisposing factors of acute cerebral haemorrhage%急性出血性脑血管疾病相关因素分析

    曹非; 骆芳; 胡波; 魏桂荣; 许辉; 菜敬杰

    2008-01-01

    Objective To investigate the initial symptoms, onset time and predisposing factors of acute cerebral haemorrhage in order to more effectively prevent cerebral haemorrhage. Methods 728 cases with acute cerebral haemorrhage were collected in recent 8 years. The initial symptoms,onset time and predisposing factors of all the patients were investigated. Results Acute cerebral haemorrhage in 582 caces (79.9%) occurred at time between 6am and 18pm and 146 cases (20%) at night. The main predisposing causes of acute cerebral haemorrhage were the playing of chess, cards and mahjong (16.1%), quarrels (12.8%), overwork (11.7%), alcoholism (7.2%) and so on. The most common initial symptom was hemianesthesia, accounting for 16.2%, others were vertigo (13.0%), headache ( 11.4%), amaurosis fugax ( 9.3%), speech ambiguity ( 8.6%) and transitory visual disturbance (7.9%). Conclusions The preventive measures of cerebral haemorrhage should be focused on daytime, especially in the morning. Sixteen locations where the cerebral haemorrhage is prone to happen should be paid more attention to by the patients with hypertension and the medical staff. Thirteen symptoms,such as hemianesthesia and vertigo,are the aurae of cerebral haemorrhage.%目的 调查急性脑出血患者首发症状、发病时间和诱因,旨在更有效预防脑出血发病.方法 搜集调查近8年728例脑出血患者临床资料,分析其首发症状、发病时问和诱因. 结果 6:00~18:00发病582例占79.9%.18:00~6:00发病146例,占20.0%.脑出血发病第1位诱因是麻将棋牌,达117例,占16.1%,其次分别为争吵93例(12.8%),过劳85例(11.7%),酗酒53例(7.2%)等.首发症状最多见的足偏身麻木,118例,占16.2%;其次为突发眩晕,其他排列顺序依次为:头痛、一过性黑朦、言语含糊、短暂性视力障碍. 结论 脑出血发病预防重点应放在白天,尤其是上午;16种脑出血好发诱因应引起高血压患者和医务人员的重视,偏身麻木、眩晕等13

  9. Is there much variation in variation? Revisiting statistics of small area variation in health services research

    Ibáñez Berta

    2009-04-01

    Full Text Available Abstract Background The importance of Small Area Variation Analysis for policy-making contrasts with the scarcity of work on the validity of the statistics used in these studies. Our study aims at 1 determining whether variation in utilization rates between health areas is higher than would be expected by chance, 2 estimating the statistical power of the variation statistics; and 3 evaluating the ability of different statistics to compare the variability among different procedures regardless of their rates. Methods Parametric bootstrap techniques were used to derive the empirical distribution for each statistic under the hypothesis of homogeneity across areas. Non-parametric procedures were used to analyze the empirical distribution for the observed statistics and compare the results in six situations (low/medium/high utilization rates and low/high variability. A small scale simulation study was conducted to assess the capacity of each statistic to discriminate between different scenarios with different degrees of variation. Results Bootstrap techniques proved to be good at quantifying the difference between the null hypothesis and the variation observed in each situation, and to construct reliable tests and confidence intervals for each of the variation statistics analyzed. Although the good performance of Systematic Component of Variation (SCV, Empirical Bayes (EB statistic shows better behaviour under the null hypothesis, it is able to detect variability if present, it is not influenced by the procedure rate and it is best able to discriminate between different degrees of heterogeneity. Conclusion The EB statistics seems to be a good alternative to more conventional statistics used in small-area variation analysis in health service research because of its robustness.

  10. Variational principle for quasibound states

    A minimum-variance principle for quasibound states is defined and utilized to investigate the corresponding energy resonances. The variational principle yields simultaneously a resonance energy E and a square-integrable wave function phi, such that minimum variance is obtained for arbitrary variations of a restricted class of square-integrable functions as well as with respect to variations of E. It is further shown that the optimum energy E0 obtained from this method can simultaneously be written as an expectation value of the actual Hamiltonian with respect to phi = phi (E0). The example of the Stark effect in the hydrogen atom is studied. It is shown that the variationally obtained resonance energy coincides with the real part of the complex pole of the m function of Weyl, related to the Green's function of the system under consideration. It is also shown that the corresponding numerical application of the Rayleigh-Ritz variational method only gives meaningful results for field intensities below 0.06 a.u., as compared with the ''exact'' results of Hehenberger, McIntosh, and Brandas

  11. Kernels and ranges in the variational formalism

    An extension of the concept of variational derivative is introduced which allows one to derive an integral identity in the variational formalism. It is applied to characterize the kernel and range of the variational derivative and the divergence operator. (Auth.)

  12. Variational Lie derivative and cohomology classes

    Palese, Marcella; Winterroth, Ekkehart

    2011-07-01

    We relate cohomology defined by a system of local Lagrangian with the cohomology class of the system of local variational Lie derivative, which is in turn a local variational problem; we show that the latter cohomology class is zero, since the variational Lie derivative `trivializes' cohomology classes defined by variational forms. As a consequence, conservation laws associated with symmetries of the second variational derivative of a local variational problem are globally defined.

  13. Solid mechanics a variational approach

    Dym, Clive L

    2013-01-01

    Solid Mechanics: A Variational Approach, Augmented Edition presents a lucid and thoroughly developed approach to solid mechanics for students engaged in the study of elastic structures not seen in other texts currently on the market. This work offers a clear and carefully prepared exposition of variational techniques as they are applied to solid mechanics. Unlike other books in this field, Dym and Shames treat all the necessary theory needed for the study of solid mechanics and include extensive applications. Of particular note is the variational approach used in developing consistent structural theories and in obtaining exact and approximate solutions for many problems.  Based on both semester and year-long courses taught to undergraduate seniors and graduate students, this text is geared for programs in aeronautical, civil, and mechanical engineering, and in engineering science. The authors’ objective is two-fold: first, to introduce the student to the theory of structures (one- and two-dimensional) as ...

  14. Constrained variational calculus: the second variation (part I)

    Massa, Enrico; Pagani, Enrico; Luria, Gianvittorio

    2010-01-01

    This paper is a direct continuation of arXiv:0705.2362 . The Hamiltonian aspects of the theory are further developed. Within the framework provided by the first paper, the problem of minimality for constrained calculus of variations is analyzed among the class of differentiable curves. A necessary and sufficient condition for minimality is proved.

  15. Structure variations of carbonizing lignin

    The studied lignin is a by-product of the process of ethanol production from eucaliptus. It was heat-treated under inert atmosphere conditions at increasing temperatures from 300C up to 2400C. The structural variations were studied by wide-angle X-ray diffraction, small-angle X-ray scattering and infrared absorption spectroscopy. The bulk and 'real' density of the compacted materials have also been determined as functions of the final temperature. These experimental results enabled us to establish a mechanism of structure variation based on the formation of a turbostratic graphite-like and porous structure within the initially amorphous lignin matrix. (Author)

  16. Storm surge variational assimilation model

    Shi-li HUANG

    2010-06-01

    Full Text Available To eliminate errors caused by uncertainty of parameters and further improve capability of storm surge forecasting, the variational data assimilation method is applied to the storm surge model based on unstructured grid with high spatial resolution. The method can effectively improve the forecasting accuracy of storm surge induced by typhoon through controlling wind drag force coefficient parameter. The model is first theoretically validated with synthetic data. Then, the real storm surge process induced by the TC 0515 typhoon is forecasted by the variational data assimilation model, and results show the feasibility of practical application.

  17. A variational formulation of electrodynamics

    De Nicola, Antonio

    2007-01-01

    We present a variational formulation of electrodynamics using de Rham even and odd differential forms. Our formulation relies on a variational principle more complete than the Hamilton principle and thus leads to field equations with external sources and permits the derivation of the constitutive relations. We interpret a domain in space-time as an odd de Rham 4-current. This permits a treatment of different types of boundary problems in an unified way. In particular we obtain a smooth transition to the infinitesimal version by using a current with a one point support.

  18. Common variations in ALG9 are not associated with bipolar I disorder: a family-based study

    Bacanu Silviu-Alin

    2006-07-01

    Full Text Available Abstract Background A mannosyltransferase gene (ALG9, DIBD1 at chromosome band 11q23 was previously identified to be disrupted by a balanced chromosomal translocation t(9;11(p24;q23 co-segregating with bipolar affective disorder in a small family. Inborn ALG9 deficiency (congenital disorders of glycosylation type IL is associated with progressive microcephaly, seizures, developmental delay, and hepatomegaly. It is unknown whether common variations of ALG9 predispose to bipolar affective disorder. Methods We tested five polymorphic markers spanning ALG9 (three intragenic and one upstream microsatellite repeats and one common missense variation, V289I (rs10502151 for their association with bipolar I disorder in two pedigree series. The NIMH (National Institute of Mental Health pedigrees had a total of 166 families showing transmissions to 250 affected offspring, whereas The PITT (The University of Pittsburgh pedigrees had a total of 129 families showing transmissions to 135 cases. We used transmission disequilibrium test for the association analyses. Results We identified three common and distinct haplotypes spanning the ALG9 gene. We found no statistically-significant evidence of transmission disequilibrium of marker alleles or multi-marker haplotypes to the affected offspring with bipolar I disorder. Conclusion These results suggest that common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder.

  19. Variation

    2001-01-01

    Veränderung (lat. variatio) einer melodisch oder harmonisch feststehenden Gestalt als epochen- und stilübergreifendes Kompositionsprinzip und im engeren Sinn als eigenständige, an ein (präexistentes) Thema gebundene Form.

  20. Sea level and climate variations

    Oerlemans, J.

    1985-01-01

    Review paper, ESA Symposium on Application of Satellite Data to Climate Modelling. Alpbach (Austria) Sea level is an essential component of the climate system, on which many human activities in the coastal zone depend. Climate variations leading to changes in relative sea level are discussed, with

  1. Variational approach for quarkonium potentials

    A variational method based on Coulomb and harmonic oscillator trial functions has been investigated in the context of single and superposition of power potentials which are commonly used for quarkonium systems. Ground state energies being upper bounds are calculated and emerge surprisingly close to their exact values considering the simplicity of the method

  2. Variational integrators in plasma physics

    To a large extent, research in plasma physics is concerned with the description and analysis of energy and momentum transfer between different scales and different kinds of waves. In the numerical modelling of such phenomena it appears to be crucial to describe the transfer processes preserving the underlying conservation laws in order to prevent physically spurious solutions. In this work, special numerical methods, so called variational integrators, are developed for several models of plasma physics. Special attention is given to conservation properties like conservation of energy and momentum. By design, variational integrators are applicable to all systems that have a Lagrangian formulation. Usually, equations of motion are derived by Hamilton's action principle and then discretised. In the application of the variational integrator theory, the order of these steps is reversed. At first, the Lagrangian and the accompanying variational principle are discretised, such that discrete equations of motion can be obtained directly by applying the discrete variational principle to the discrete Lagrangian. The advantage of this approach is that the resulting discretisation automatically retains the conservation properties of the continuous system. Following an overview of the geometric formulation of classical mechanics and field theory, which forms the basis of the variational integrator theory, variational integrators are introduced in a framework adapted to problems from plasma physics. The applicability of variational integrators is explored for several important models of plasma physics: particle dynamics (guiding centre dynamics), kinetic theory (the Vlasov-Poisson system) and fluid theory (magnetohydrodynamics). These systems, with the exception of guiding centre dynamics, do not possess a Lagrangian formulation to which the variational integrator methodology is directly applicable. Therefore the theory is extended by linking it to Ibragimov's theory of

  3. Geometric constrained variational calculus. III: The second variation (Part II)

    Massa, Enrico; Luria, Gianvittorio; Pagani, Enrico

    2016-03-01

    The problem of minimality for constrained variational calculus is analyzed within the class of piecewise differentiable extremaloids. A fully covariant representation of the second variation of the action functional based on a family of local gauge transformations of the original Lagrangian is proposed. The necessity of pursuing a local adaptation process, rather than the global one described in [1] is seen to depend on the value of certain scalar attributes of the extremaloid, here called the corners’ strengths. On this basis, both the necessary and the sufficient conditions for minimality are worked out. In the discussion, a crucial role is played by an analysis of the prolongability of the Jacobi fields across the corners. Eventually, in the appendix, an alternative approach to the concept of strength of a corner, more closely related to Pontryagin’s maximum principle, is presented.

  4. Variation of Parameters in Differential Equations (A Variation in Making Sense of Variation of Parameters)

    Quinn, Terry; Rai, Sanjay

    2012-01-01

    The method of variation of parameters can be found in most undergraduate textbooks on differential equations. The method leads to solutions of the non-homogeneous equation of the form y = u[subscript 1]y[subscript 1] + u[subscript 2]y[subscript 2], a sum of function products using solutions to the homogeneous equation y[subscript 1] and…

  5. Risk factors predisposing to congenital heart defects

    Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD

  6. Risk factors predisposing to congenital heart defects

    Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

    2011-01-01

    Introduction: Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. Methods: A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Results: Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Conclusions: Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD. PMID:21976868

  7. Factors identifying pigs predisposed to tail biting

    Beattie, V. E.; Breuer, K.; O Connell, N. E.; Sneddon, I. A.; Mercer, J. T.; Rance, K. A.; Sutcliffe, M. E. M.; Edwards, S A

    2005-01-01

    Approximately 5% of pigs slaughtered in the UK have been tail-bitten, leading to welfare and production issues. Tail biting is sporadic and not all pigs tail bite. The aim of this study was to identify factors that are common in pigs that perform tail-biting behaviour, and that might be used in a predictive way to identify such animals. The behaviour of 159 pigs was observed in the post-weaning period. Pigs were weaned at 4 weeks of age. In the week prior to weaning and at 6 weeks of age each...

  8. Can antioxidants predispose to cancer recurrence?

    Krishnananda Prabhu; Gummadi Maheshwar Reddy; Anjali Rao

    2010-01-01

    Objective:To measure and compare pre-and post-treatment levels of serum total glutathione-S-transferase (GST) in stage IV cervical cancer patients and erythrocytic glutathione (GSH) and malondialdehyde (MDA) and plasma ceruloplasmin (CP) and total GST in stage IV oral cancer patients and to correlate with the response to treatment during a two year follow-up period in respective cancer groups. Methods:Thirty-four biopsy-proven stage IV oral cancer and cervical cancer patients (n=17 in each group) who underwent same mode of treatment were chosen for this study. Erythrocytic MDA and GSH, CP and serum total GST were measured in all patients before the onset of treatment, and the GST level was only measured in cervical cancer patients after radiotherapy. The levels were compared with their respective prognosis in 2 years. Results:Oral cancer patients with higher pretreatment levels of GSH, CP and GST came with cancer recurrence within 2 years after the onset of treatment. Cervical cancer patients with higher post radiotherapy levels of serum total GST had higher recurrence tate. Conclusions:This study indicates there may be a role for these antioxidant parameters namely GST, GSH, CP in assessment of long term survival and prognosis of cancer patients.

  9. Comparing variation across European countries

    Thygesen, Lau C; Baixauli-Pérez, Cristobal; Librero-López, Julián;

    2015-01-01

    units of analysis in the estimation of systematic variation in three countries. METHODS: Hospital discharges for six conditions (congestive heart failure, short-term complications of diabetes, hip fracture, knee replacement, prostatectomy in prostate cancer and percutaneous coronary intervention......) produced in Denmark, England and Portugal in 2008 and 2009 were allocated to both original geographical units and new ad hoc areas. New areas were built using Ward's minimum variance methods. The impact of the new areas on variability was assessed using Kernel distribution curves and different statistic...... inhabitants vs. 7% in Denmark and 5% in England. Point estimates for Extremal Quotient and Interquartile Interval Ratio were lower in the three countries, particularly in less prevalent conditions. In turn, the Systematic Component of Variation and Empirical Bayes statistic were slightly lower in more...

  10. Variational Integrators for Reduced Magnetohydrodynamics

    Kraus, Michael; Grasso, Daniela

    2015-01-01

    Reduced magnetohydrodynamics is a simplified set of magnetohydrodynamics equations with applications to both fusion and astrophysical plasmas, possessing a noncanonical Hamiltonian structure and consequently a number of conserved functionals. We propose a new discretisation strategy for these equations based on a discrete variational principle applied to a formal Lagrangian. The resulting integrator preserves important quantities like the total energy, magnetic helicity and cross helicity exactly (up to machine precision). As the integrator is free of numerical resistivity, spurious reconnection along current sheets is absent in the ideal case. If effects of electron inertia are added, reconnection of magnetic field lines is allowed, although the resulting model still possesses a noncanonical Hamiltonian structure. After reviewing the conservation laws of the model equations, the adopted variational principle with the related conservation laws are described both at the continuous and discrete level. We verify...