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Sample records for missing opa1 mutation

  1. Reversible optic neuropathy with OPA1 exon 5b mutation

    DEFF Research Database (Denmark)

    Cornille, K.; Milea, D.; Amati-Bonneau, P.

    2008-01-01

    A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network......, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described...

  2. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family

    Science.gov (United States)

    Zhang, Liping; Shi, Wei; Song, Liming; Zhang, Xiao; Cheng, Lulu; Wang, Yanfang; Ge, Xianglian; Li, Wei; Zhang, Wei; Min, Qingjie; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-11-01

    Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known retinal disease genes. However, six exons failed to be sequenced by CNGS in optic atrophy 1 gene (OPA1). Sequencing of those exons identified a 4 bp deletion mutation (c.2983-1_2985del) in OPA1. Furthermore, we sequenced the transcripts of OPA1 from the patient skin fibroblasts and found there is six-nucleotide deletion (c.2984-c.2989, AGAAAG). Quantitative-PCR and Western blotting showed that OPA1 mRNA and its protein expression have no obvious difference between patient skin fibroblast and control. The analysis of protein structure by molecular modeling suggests that the mutation may change the structure of OPA1 by formation of an alpha helix protruding into an existing pocket. Taken together, we identified an OPA1 mutation in a family with ADOA by filling the missing CNGS data. We also showed that this mutation affects the structural intactness of OPA1. It provides molecular insights for clinical genetic diagnosis and treatment of optic atrophy.

  3. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

    Science.gov (United States)

    Liao, Chunyan; Ashley, Neil; Diot, Alan; Morten, Karl; Phadwal, Kanchan; Williams, Andrew; Fearnley, Ian; Rosser, Lyndon; Lowndes, Jo; Fratter, Carl; Ferguson, David J P; Vay, Laura; Quaghebeur, Gerardine; Moroni, Isabella; Bianchi, Stefania; Lamperti, Costanza; Downes, Susan M; Sitarz, Kamil S; Flannery, Padraig J; Carver, Janet; Dombi, Eszter; East, Daniel; Laura, Matilde; Reilly, Mary M; Mortiboys, Heather; Prevo, Remko; Campanella, Michelangelo; Daniels, Matthew J; Zeviani, Massimo; Yu-Wai-Man, Patrick; Simon, Anna Katharina; Votruba, Marcela; Poulton, Joanna

    2017-01-10

    To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2 high throughput imaging systems, by visualizing colocalization of mitochondrial fragments with engulfing autophagosomes. Fibroblasts from 3 biallelic OPA1(-/-) patients with severe DOA had increased mitochondrial fragmentation and mitochondrial DNA (mtDNA)-depleted cells due to decreased levels of OPA1 protein. Similarly, in siRNA-treated control fibroblasts, profound OPA1 knockdown caused mitochondrial fragmentation, loss of mtDNA, impaired mitochondrial function, and mitochondrial mislocalization. Compared to controls, basal mitophagy (abundance of autophagosomes colocalizing with mitochondria) was increased in (1) biallelic patients, (2) monoallelic patients with DOA plus, and (3) OPA1 siRNA-treated control cultures. Mitophagic flux was also increased. Genetic knockdown of the mitophagy protein ATG7 confirmed this by eliminating differences between patient and control fibroblasts. We demonstrated increased mitophagy and excessive mitochondrial fragmentation in primary human cultures associated with DOA plus due to biallelic OPA1 mutations. We previously found that increased mitophagy (mitochondrial recycling) was associated with visual loss in another mitochondrial optic neuropathy, Leber hereditary optic neuropathy (LHON). Combined with our LHON findings, this implicates excessive mitochondrial fragmentation, dysregulated mitophagy, and impaired response to energetic stress in the pathogenesis of mitochondrial optic neuropathies, potentially linked with mitochondrial mislocalization and mtDNA depletion. Copyright © 2016 The Author(s). Published by Wolters Kluwer Health, Inc

  4. A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Juanjuan; Yuan, Yimin; Lin, Bing; Feng, Hao; Li, Yan [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Dai, Xianning; Zhou, Huihui [Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, Zhejiang (China); Dong, Xujie [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Liu, Xiao-Ling, E-mail: lxl@mail.eye.ac.cn [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Guan, Min-Xin, E-mail: min-xin.guan@cchmc.org [Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, Zhejiang (China); Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang 310012 (China); Division of Human Genetics, Cincinnati Children' s Hospital Medical Center, OH 45229 (United States)

    2012-03-23

    Highlights: Black-Right-Pointing-Pointer We report the characterization of a four-generation large Chinese family with ADOA. Black-Right-Pointing-Pointer We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. Black-Right-Pointing-Pointer We do not find any mitochondrial DNA mutations associated with optic atrophy. Black-Right-Pointing-Pointer Other factors may also contribute to the phenotypic variability of ADOA in this pedigree. -- Abstract: A large four-generation Chinese family with autosomal dominant optic atrophy (ADOA) was investigated in the present study. Eight of the family members were affected in this pedigree. The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9 years. A new heterozygous mutation c.C1198G was identified by sequence analysis of the 12th exon of the OPA1 gene. This mutation resulted in a proline to alanine substitution at codon 400, which was located in an evolutionarily conserved region. This missense mutation in the GTPase domain was supposed to result in a loss of function for the encoded protein and act through a dominant negative effect. No other mutations associated with optic atrophy were found in our present study. The c.C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with ADOA. Furthermore, additional nuclear modifier genes, environmental factors, and psychological factors may also contribute to the phenotypic variability of ADOA in this pedigree.

  5. A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

    International Nuclear Information System (INIS)

    Zhang, Juanjuan; Yuan, Yimin; Lin, Bing; Feng, Hao; Li, Yan; Dai, Xianning; Zhou, Huihui; Dong, Xujie; Liu, Xiao-Ling; Guan, Min-Xin

    2012-01-01

    Highlights: ► We report the characterization of a four-generation large Chinese family with ADOA. ► We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. ► We do not find any mitochondrial DNA mutations associated with optic atrophy. ► Other factors may also contribute to the phenotypic variability of ADOA in this pedigree. -- Abstract: A large four-generation Chinese family with autosomal dominant optic atrophy (ADOA) was investigated in the present study. Eight of the family members were affected in this pedigree. The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9 years. A new heterozygous mutation c.C1198G was identified by sequence analysis of the 12th exon of the OPA1 gene. This mutation resulted in a proline to alanine substitution at codon 400, which was located in an evolutionarily conserved region. This missense mutation in the GTPase domain was supposed to result in a loss of function for the encoded protein and act through a dominant negative effect. No other mutations associated with optic atrophy were found in our present study. The c.C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with ADOA. Furthermore, additional nuclear modifier genes, environmental factors, and psychological factors may also contribute to the phenotypic variability of ADOA in this pedigree.

  6. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

    DEFF Research Database (Denmark)

    Ferré, Marc; Bonneau, Dominique; Milea, Dan

    2009-01-01

    We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten...... and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease....... novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1...

  7. Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

    Science.gov (United States)

    Galvez-Ruiz, Alberto; Galindo-Ferreiro, Alicia; Schatz, Patrik

    2018-04-01

    In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

  8. OPA1-associated disorders: phenotypes and pathophysiology

    DEFF Research Database (Denmark)

    Amati-Bonneau, Patrizia; Milea, Dan; Bonneau, Dominique

    2009-01-01

    in patients with hereditary optic neuropathies indicates that the clinical spectrum of ADOA is larger than previously thought. Specific OPA1 mutations are responsible for several distinct clinical presentations, such as ADOA with deafness (ADOAD), and severe multi-systemic syndromes, the so-called "ADOA plus......The OPA1 gene, encoding a dynamin-like mitochondrial GTPase, is involved in autosomal dominant optic atrophy (ADOA, OMIM #165500). ADOA, also known as Kjer's optic atrophy, affects retinal ganglion cells and the axons forming the optic nerve, leading to progressive visual loss. OPA1 gene sequencing...

  9. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

    DEFF Research Database (Denmark)

    Almind, Gitte J; Grønskov, Karen; Milea, Dan

    2011-01-01

    Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently reported...

  10. The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment.

    Directory of Open Access Journals (Sweden)

    Will Yarosh

    2008-01-01

    Full Text Available Mutations in optic atrophy 1 (OPA1, a nuclear gene encoding a mitochondrial protein, is the most common cause for autosomal dominant optic atrophy (DOA. The condition is characterized by gradual loss of vision, color vision defects, and temporal optic pallor. To understand the molecular mechanism by which OPA1 mutations cause optic atrophy and to facilitate the development of an effective therapeutic agent for optic atrophies, we analyzed phenotypes in the developing and adult Drosophila eyes produced by mutant dOpa1 (CG8479, a Drosophila ortholog of human OPA1. Heterozygous mutation of dOpa1 by a P-element or transposon insertions causes no discernable eye phenotype, whereas the homozygous mutation results in embryonic lethality. Using powerful Drosophila genetic techniques, we created eye-specific somatic clones. The somatic homozygous mutation of dOpa1 in the eyes caused rough (mispatterning and glossy (decreased lens and pigment deposition eye phenotypes in adult flies; this phenotype was reversible by precise excision of the inserted P-element. Furthermore, we show the rough eye phenotype is caused by the loss of hexagonal lattice cells in developing eyes, suggesting an increase in lattice cell apoptosis. In adult flies, the dOpa1 mutation caused an increase in reactive oxygen species (ROS production as well as mitochondrial fragmentation associated with loss and damage of the cone and pigment cells. We show that superoxide dismutase 1 (SOD1, Vitamin E, and genetically overexpressed human SOD1 (hSOD1 is able to reverse the glossy eye phenotype of dOPA1 mutant large clones, further suggesting that ROS play an important role in cone and pigment cell death. Our results show dOpa1 mutations cause cell loss by two distinct pathogenic pathways. This study provides novel insights into the pathogenesis of optic atrophy and demonstrates the promise of antioxidants as therapeutic agents for this condition.

  11. Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

    DEFF Research Database (Denmark)

    Sarzi, Emmanuelle; Seveno, Marie; Angebault, Claire

    2016-01-01

    levels of steroid precursor pregnenolone in females, causing an early-onset vision loss, abolished by ovariectomy. In addition, steroid production in retina is also increased which, in conjunction with high circulating levels, impairs estrogen receptor expression and mitochondrial respiratory complex IV...... tested the hypothesis of deregulated steroid production in retina due to a disease-causing OPA1 mutation and its contribution to the visual phenotypic variations. Using the mouse model carrying the human recurrent OPA1 mutation, we disclosed that Opa1 haploinsufficiency leads to very high circulating...

  12. Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

    Science.gov (United States)

    Chao de la Barca, Juan Manuel; Simard, Gilles; Sarzi, Emmanuelle; Chaumette, Tanguy; Rousseau, Guillaume; Chupin, Stéphanie; Gadras, Cédric; Tessier, Lydie; Ferré, Marc; Chevrollier, Arnaud; Desquiret-Dumas, Valérie; Gueguen, Naïg; Leruez, Stéphanie; Verny, Christophe; Miléa, Dan; Bonneau, Dominique; Amati-Bonneau, Patrizia; Procaccio, Vincent; Hamel, Christian; Lenaers, Guy; Reynier, Pascal; Prunier-Mirebeau, Delphine

    2017-02-01

    Dominant optic atrophy (MIM No. 165500) is a blinding condition related to mutations in OPA1, a gene encoding a large GTPase involved in mitochondrial inner membrane dynamics. Although several mouse models mimicking the disease have been developed, the pathophysiological mechanisms responsible for retinal ganglion cell degeneration remain poorly understood. Using a targeted metabolomic approach, we measured the concentrations of 188 metabolites in nine tissues, that is, brain, three types of skeletal muscle, heart, liver, retina, optic nerve, and plasma in symptomatic 11-month-old Opa1delTTAG/+ mice. Significant metabolic signatures were found only in the optic nerve and plasma of female mice. The optic nerve signature was characterized by altered concentrations of phospholipids, amino acids, acylcarnitines, and carnosine, whereas the plasma signature showed decreased concentrations of amino acids and sarcosine associated with increased concentrations of several phospholipids. In contrast, the investigation of 3-month-old presymptomatic Opa1delTTAG/+ mice showed no specific plasma signature but revealed a significant optic nerve signature in both sexes, although with a sex effect. The Opa1delTTAG/+ versus wild-type optic nerve signature was characterized by the decreased concentrations of 10 sphingomyelins and 10 lysophosphatidylcholines, suggestive of myelin sheath alteration, and by alteration in the concentrations of metabolites involved in neuroprotection, such as dimethylarginine, carnitine, spermine, spermidine, carnosine, and glutamate, suggesting a concomitant axonal metabolic dysfunction. Our comprehensive metabolomic investigations revealed in symptomatic as well as in presymptomatic Opa1delTTAG/+ mice, a specific sensitiveness of the optic nerve to Opa1 insufficiency, opening new routes for protective therapeutic strategies.

  13. Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China.

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    Xiang, Yang-Lin; Zhang, Deng-Feng; Wang, Dong; Li, Yu-Ye; Yao, Yong-Gang

    2015-11-01

    Leprosy is an ancient chronic infection caused by Mycobacterium leprae. Onset of leprosy was highly affected by host nutritional condition and energy production, (partially) due to genomic loss and parasitic life style of M. leprae. The optic atrophy 1 (OPA1) gene plays an essential role in mitochondria, which function in cellular energy supply and innate immunity. To investigate the potential involvement of OPA1 in leprosy. We analyzed 7 common genetic variants of OPA1 in 1110 Han Chinese subjects with and without leprosy, followed by mRNA expression profiling and protein-protein interaction (PPI) network analysis. We observed positive associations between OPA1 variants rs9838374 (Pgenotypic=0.003) and rs414237 (Pgenotypic=0.002) with lepromatous leprosy. expression quantitative trait loci (eQTL) analysis showed that the leprosy-related risk allele C of rs414237 is correlated with lower OPA1 mRNA expression level. Indeed, we identified a decrease of OPA1 mRNA expression in both with patients and cellular model of leprosy. In addition, the PPI analysis showed that OPA1 protein was actively involved in the interaction network of M. leprae induced differentially expressed genes. Our results indicated that OPA1 variants confer risk of leprosy and may affect OPA1 expression, mitochondrial function and antimicrobial pathways. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  14. Loss of Drp1 function alters OPA1 processing and changes mitochondrial membrane organization

    Energy Technology Data Exchange (ETDEWEB)

    Moepert, Kristin [Silence Therapeutics AG, 13125 Berlin (Germany); Hajek, Petr [Division of Biology, California Institute of Technology, Pasadena, CA 91125 (United States); Frank, Stephan [Department of Neuropathology, Institute of Pathology, University Hospital Basel, CH-4031 Basel (Switzerland); Chen, Christiane [Department of Pediatric Hematology and Oncology, University Children' s Hospital Muenster, 48149 Muenster (Germany); Kaufmann, Joerg [Silence Therapeutics AG, 13125 Berlin (Germany); Santel, Ansgar, E-mail: a.santel@silence-therapeutics.com [Silence Therapeutics AG, 13125 Berlin (Germany)

    2009-08-01

    RNAi mediated loss of Drp1 function changes mitochondrial morphology in cultured HeLa and HUVEC cells by shifting the balance of mitochondrial fission and fusion towards unopposed fusion. Over time, inhibition of Drp1 expression results in the formation of a highly branched mitochondrial network along with 'bulge'-like structures. These changes in mitochondrial morphology are accompanied by a reduction in levels of Mitofusin 1 (Mfn1) and 2 (Mfn2) and a modified proteolytic processing of OPA1 isoforms, resulting in the inhibition of cell proliferation. In addition, our data imply that bulge formation is driven by Mfn1 action along with particular proteolytic short-OPA1 (s-OPA1) variants: Loss of Mfn2 in the absence of Drp1 results in an increase of Mfn1 levels along with processed s-OPA1-isoforms, thereby enhancing continuous 'fusion' and bulge formation. Moreover, bulge formation might reflect s-OPA1 mitochondrial membrane remodeling activity, resulting in the compartmentalization of cytochrome c deposits. The proteins Yme1L and PHB2 appeared not associated with the observed enhanced OPA1 proteolysis upon RNAi of Drp1, suggesting the existence of other OPA1 processing controlling proteins. Taken together, Drp1 appears to affect the activity of the mitochondrial fusion machinery by unbalancing the protein levels of mitofusins and OPA1.

  15. OPA1 deficiency promotes secretion of FGF21 from muscle that prevents obesity and insulin resistance.

    Science.gov (United States)

    Pereira, Renata Oliveira; Tadinada, Satya M; Zasadny, Frederick M; Oliveira, Karen Jesus; Pires, Karla Maria Pereira; Olvera, Angela; Jeffers, Jennifer; Souvenir, Rhonda; Mcglauflin, Rose; Seei, Alec; Funari, Trevor; Sesaki, Hiromi; Potthoff, Matthew J; Adams, Christopher M; Anderson, Ethan J; Abel, E Dale

    2017-07-14

    Mitochondrial dynamics is a conserved process by which mitochondria undergo repeated cycles of fusion and fission, leading to exchange of mitochondrial genetic content, ions, metabolites, and proteins. Here, we examine the role of the mitochondrial fusion protein optic atrophy 1 (OPA1) in differentiated skeletal muscle by reducing OPA1 gene expression in an inducible manner. OPA1 deficiency in young mice results in non-lethal progressive mitochondrial dysfunction and loss of muscle mass. Mutant mice are resistant to age- and diet-induced weight gain and insulin resistance, by mechanisms that involve activation of ER stress and secretion of fibroblast growth factor 21 (FGF21) from skeletal muscle, resulting in increased metabolic rates and improved whole-body insulin sensitivity. OPA1-elicited mitochondrial dysfunction activates an integrated stress response that locally induces muscle atrophy, but via secretion of FGF21 acts distally to modulate whole-body metabolism. © 2017 The Authors.

  16. Deregulation of Mitochondria-Shaping Proteins Opa-1 and Drp-1 in Manganese-Induced Apoptosis

    Science.gov (United States)

    Alaimo, Agustina; Gorojod, Roxana M.; Beauquis, Juan; Muñoz, Manuel J.; Saravia, Flavia; Kotler, Mónica L.

    2014-01-01

    Mitochondria are dynamic organelles that undergo fusion and fission processes. These events are regulated by mitochondria-shaping proteins. Changes in the expression and/or localization of these proteins lead to a mitochondrial dynamics impairment and may promote apoptosis. Increasing evidence correlates the mitochondrial dynamics disruption with the occurrence of neurodegenerative diseases. Therefore, we focused on this topic in Manganese (Mn)-induced Parkinsonism, a disorder associated with Mn accumulation preferentially in the basal ganglia where mitochondria from astrocytes represent an early target. Using MitoTracker Red staining we observed increased mitochondrial network fission in Mn-exposed rat astrocytoma C6 cells. Moreover, Mn induced a marked decrease in fusion protein Opa-1 levels as well as a dramatic increase in the expression of fission protein Drp-1. Additionally, Mn provoked a significant release of high MW Opa-1 isoforms from the mitochondria to the cytosol as well as an increased Drp-1 translocation to the mitochondria. Both Mdivi-1, a pharmacological Drp-1 inhibitor, and rat Drp-1 siRNA reduced the number of apoptotic nuclei, preserved the mitochondrial network integrity and prevented cell death. CsA, an MPTP opening inhibitor, prevented mitochondrial Δψm disruption, Opa-1 processing and Drp-1 translocation to the mitochondria therefore protecting Mn-exposed cells from mitochondrial disruption and apoptosis. The histological analysis and Hoechst 33258 staining of brain sections of Mn-injected rats in the striatum showed a decrease in cellular mass paralleled with an increase in the occurrence of apoptotic nuclei. Opa-1 and Drp-1 expression levels were also changed by Mn-treatment. Our results demonstrate for the first time that abnormal mitochondrial dynamics is implicated in both in vitro and in vivo Mn toxicity. In addition we show that the imbalance in fusion/fission equilibrium might be involved in Mn-induced apoptosis. This knowledge may

  17. Deregulation of mitochondria-shaping proteins Opa-1 and Drp-1 in manganese-induced apoptosis.

    Directory of Open Access Journals (Sweden)

    Agustina Alaimo

    Full Text Available Mitochondria are dynamic organelles that undergo fusion and fission processes. These events are regulated by mitochondria-shaping proteins. Changes in the expression and/or localization of these proteins lead to a mitochondrial dynamics impairment and may promote apoptosis. Increasing evidence correlates the mitochondrial dynamics disruption with the occurrence of neurodegenerative diseases. Therefore, we focused on this topic in Manganese (Mn-induced Parkinsonism, a disorder associated with Mn accumulation preferentially in the basal ganglia where mitochondria from astrocytes represent an early target. Using MitoTracker Red staining we observed increased mitochondrial network fission in Mn-exposed rat astrocytoma C6 cells. Moreover, Mn induced a marked decrease in fusion protein Opa-1 levels as well as a dramatic increase in the expression of fission protein Drp-1. Additionally, Mn provoked a significant release of high MW Opa-1 isoforms from the mitochondria to the cytosol as well as an increased Drp-1 translocation to the mitochondria. Both Mdivi-1, a pharmacological Drp-1 inhibitor, and rat Drp-1 siRNA reduced the number of apoptotic nuclei, preserved the mitochondrial network integrity and prevented cell death. CsA, an MPTP opening inhibitor, prevented mitochondrial Δψm disruption, Opa-1 processing and Drp-1 translocation to the mitochondria therefore protecting Mn-exposed cells from mitochondrial disruption and apoptosis. The histological analysis and Hoechst 33258 staining of brain sections of Mn-injected rats in the striatum showed a decrease in cellular mass paralleled with an increase in the occurrence of apoptotic nuclei. Opa-1 and Drp-1 expression levels were also changed by Mn-treatment. Our results demonstrate for the first time that abnormal mitochondrial dynamics is implicated in both in vitro and in vivo Mn toxicity. In addition we show that the imbalance in fusion/fission equilibrium might be involved in Mn-induced apoptosis

  18. Deregulation of mitochondria-shaping proteins Opa-1 and Drp-1 in manganese-induced apoptosis.

    Science.gov (United States)

    Alaimo, Agustina; Gorojod, Roxana M; Beauquis, Juan; Muñoz, Manuel J; Saravia, Flavia; Kotler, Mónica L

    2014-01-01

    Mitochondria are dynamic organelles that undergo fusion and fission processes. These events are regulated by mitochondria-shaping proteins. Changes in the expression and/or localization of these proteins lead to a mitochondrial dynamics impairment and may promote apoptosis. Increasing evidence correlates the mitochondrial dynamics disruption with the occurrence of neurodegenerative diseases. Therefore, we focused on this topic in Manganese (Mn)-induced Parkinsonism, a disorder associated with Mn accumulation preferentially in the basal ganglia where mitochondria from astrocytes represent an early target. Using MitoTracker Red staining we observed increased mitochondrial network fission in Mn-exposed rat astrocytoma C6 cells. Moreover, Mn induced a marked decrease in fusion protein Opa-1 levels as well as a dramatic increase in the expression of fission protein Drp-1. Additionally, Mn provoked a significant release of high MW Opa-1 isoforms from the mitochondria to the cytosol as well as an increased Drp-1 translocation to the mitochondria. Both Mdivi-1, a pharmacological Drp-1 inhibitor, and rat Drp-1 siRNA reduced the number of apoptotic nuclei, preserved the mitochondrial network integrity and prevented cell death. CsA, an MPTP opening inhibitor, prevented mitochondrial Δψm disruption, Opa-1 processing and Drp-1 translocation to the mitochondria therefore protecting Mn-exposed cells from mitochondrial disruption and apoptosis. The histological analysis and Hoechst 33258 staining of brain sections of Mn-injected rats in the striatum showed a decrease in cellular mass paralleled with an increase in the occurrence of apoptotic nuclei. Opa-1 and Drp-1 expression levels were also changed by Mn-treatment. Our results demonstrate for the first time that abnormal mitochondrial dynamics is implicated in both in vitro and in vivo Mn toxicity. In addition we show that the imbalance in fusion/fission equilibrium might be involved in Mn-induced apoptosis. This knowledge may

  19. Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder

    Czech Academy of Sciences Publication Activity Database

    Lisková, P.; Ulmanová, O.; Těšina, Petr; Melsová, H.; Diblik, P.; Hansíková, H.; Tesařová, M.; Votruba, M.

    2013-01-01

    Roč. 91, č. 3 (2013), E225-E231 ISSN 1755-375X Grant - others:GA MZd(CZ) NT11190 Institutional research plan: CEZ:AV0Z40550506 Keywords : ataxia * autosomal dominant * deafness * encephalomyopathy Subject RIV: FF - HEENT, Dentistry Impact factor: 2.512, year: 2013

  20. Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder

    Czech Academy of Sciences Publication Activity Database

    Lisková, P.; Ulmanová, O.; Těšina, Petr; Melsová, H.; Diblik, P.; Hansíková, H.; Tesařová, M.; Votruba, M.

    2013-01-01

    Roč. 91, č. 3 (2013), e225-e231 ISSN 1755-375X Institutional research plan: CEZ:AV0Z40550506; CEZ:AV0Z50520514 Keywords : ataxia * autosomal dominant * deafness * encephalomyopathy Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.512, year: 2013

  1. Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.

    Science.gov (United States)

    Tezze, Caterina; Romanello, Vanina; Desbats, Maria Andrea; Fadini, Gian Paolo; Albiero, Mattia; Favaro, Giulia; Ciciliot, Stefano; Soriano, Maria Eugenia; Morbidoni, Valeria; Cerqua, Cristina; Loefler, Stefan; Kern, Helmut; Franceschi, Claudio; Salvioli, Stefano; Conte, Maria; Blaauw, Bert; Zampieri, Sandra; Salviati, Leonardo; Scorrano, Luca; Sandri, Marco

    2017-06-06

    Mitochondrial dysfunction occurs during aging, but its impact on tissue senescence is unknown. Here, we find that sedentary but not active humans display an age-related decline in the mitochondrial protein, optic atrophy 1 (OPA1), that is associated with muscle loss. In adult mice, acute, muscle-specific deletion of Opa1 induces a precocious senescence phenotype and premature death. Conditional and inducible Opa1 deletion alters mitochondrial morphology and function but not DNA content. Mechanistically, the ablation of Opa1 leads to ER stress, which signals via the unfolded protein response (UPR) and FoxOs, inducing a catabolic program of muscle loss and systemic aging. Pharmacological inhibition of ER stress or muscle-specific deletion of FGF21 compensates for the loss of Opa1, restoring a normal metabolic state and preventing muscle atrophy and premature death. Thus, mitochondrial dysfunction in the muscle can trigger a cascade of signaling initiated at the ER that systemically affects general metabolism and aging. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  2. Pitfalls in genetic testing: the story of missed SCN1A mutations.

    Science.gov (United States)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S; de Kovel, Carolien G; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G; Gormley, Padhraig; Guerrero-López, Rosa; Guerrini, Renzo; Hämäläinen, Eija; Hartmann, Corinna; Hernandez-Hernandez, Laura; Hjalgrim, Helle; Koeleman, Bobby P C; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R; Leu, Costin; Marini, Carla; McMahon, Jacinta M; Mei, Davide; Møller, Rikke S; Muhle, Hiltrud; Myers, Candace T; Nava, Caroline; Serratosa, Jose M; Sisodiya, Sanjay M; Stephani, Ulrich; Striano, Pasquale; van Kempen, Marjan J A; Verbeek, Nienke E; Usluer, Sunay; Zara, Federico; Palotie, Aarno; Mefford, Heather C; Scheffer, Ingrid E; De Jonghe, Peter; Helbig, Ingo; Suls, Arvid

    2016-07-01

    Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. We sent out a survey to 16 genetic centers performing SCN1A testing. We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

  3. Neural-specific deletion of Htra2 causes cerebellar neurodegeneration and defective processing of mitochondrial OPA1.

    Directory of Open Access Journals (Sweden)

    Victoria L Patterson

    Full Text Available HTRA2, a serine protease in the intermembrane space, has important functions in mitochondrial stress signaling while its abnormal activity may contribute to the development of Parkinson's disease. Mice with a missense or null mutation of Htra2 fail to thrive, suffer striatal neuronal loss, and a parkinsonian phenotype that leads to death at 30-40 days of age. While informative, these mouse models cannot separate neural contributions from systemic effects due to the complex phenotypes of HTRA2 deficiency. Hence, we developed mice carrying a Htra2-floxed allele to query the consequences of tissue-specific HTRA2 deficiency. We found that mice with neural-specific deletion of Htra2 exhibited atrophy of the thymus and spleen, cessation to gain weight past postnatal (P day 18, neurological symptoms including ataxia and complete penetrance of premature death by P40. Histologically, increased apoptosis was detected in the cerebellum, and to a lesser degree in the striatum and the entorhinal cortex, from P25. Even earlier at P20, mitochondria in the cerebella already exhibited abnormal morphology, including swelling, vesiculation, and fragmentation of the cristae. Furthermore, the onset of these structural anomalies was accompanied by defective processing of OPA1, a key molecule for mitochondrial fusion and cristae remodeling, leading to depletion of the L-isoform. Together, these findings suggest that HTRA2 is essential for maintenance of the mitochondrial integrity in neurons. Without functional HTRA2, a lifespan as short as 40 days accumulates a large quantity of dysfunctional mitochondria that contributes to the demise of mutant mice.

  4. Mitochondrial cristae remodelling is associated with disrupted OPA1 oligomerisation in the Huntington's disease R6/2 fragment model.

    Science.gov (United States)

    Hering, Tanja; Kojer, Kerstin; Birth, Nathalie; Hallitsch, Jaqueline; Taanman, Jan-Willem; Orth, Michael

    2017-02-01

    There is evidence of an imbalance of mitochondrial fission and fusion in patients with Huntington's disease (HD) and HD animal models. Fission and fusion are important for mitochondrial homeostasis including mitochondrial DNA (mtDNA) maintenance and may be relevant for the selective striatal mtDNA depletion that we observed in the R6/2 fragment HD mouse model. We aimed to investigate the fission/fusion balance and the integrity of the mitochondrial membrane system in cortex and striatum of end-stage R6/2 mice and wild-type animals. Mitochondrial morphology was determined using electron microscopy, and transcript and protein levels of factors that play a key role in fission and fusion, including DRP1, mitofusin 1 and 2, mitofilin and OPA1, and cytochrome c and caspase 3 were assessed by RT-qPCR and immunoblotting. OPA1 oligomerisation was evaluated using blue native gels. In striatum and cortex of R6/2 mice, mitochondrial cristae morphology was abnormal. Mitofilin and the overall levels of the fission and fusion factors were unaffected; however, OPA1 oligomerisation was abnormal in striatum and cortex of R6/2 mice. Mitochondrial and cytoplasmic cytochrome c levels were similar in R6/2 and wild-type mice with no significant increase of activated caspase 3. Our results indicate that the integrity of the mitochondrial cristae is compromised in striatum and cortex of the R6/2 mice and that this is most likely caused by impaired OPA1 oligomerisation. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Mitochondrial Optic Atrophy (OPA) 1 Processing Is Altered in Response to Neonatal Hypoxic-Ischemic Brain Injury

    Science.gov (United States)

    Baburamani, Ana A.; Hurling, Chloe; Stolp, Helen; Sobotka, Kristina; Gressens, Pierre; Hagberg, Henrik; Thornton, Claire

    2015-01-01

    Perturbation of mitochondrial function and subsequent induction of cell death pathways are key hallmarks in neonatal hypoxic-ischemic (HI) injury, both in animal models and in term infants. Mitoprotective therapies therefore offer a new avenue for intervention for the babies who suffer life-long disabilities as a result of birth asphyxia. Here we show that after oxygen-glucose deprivation in primary neurons or in a mouse model of HI, mitochondrial protein homeostasis is altered, manifesting as a change in mitochondrial morphology and functional impairment. Furthermore we find that the mitochondrial fusion and cristae regulatory protein, OPA1, is aberrantly cleaved to shorter forms. OPA1 cleavage is normally regulated by a balanced action of the proteases Yme1L and Oma1. However, in primary neurons or after HI in vivo, protein expression of YmelL is also reduced, whereas no change is observed in Oma1 expression. Our data strongly suggest that alterations in mitochondria-shaping proteins are an early event in the pathogenesis of neonatal HI injury. PMID:26393574

  6. Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1

    Energy Technology Data Exchange (ETDEWEB)

    Kieper, Nicole; Holmstroem, Kira M.; Ciceri, Dalila; Fiesel, Fabienne C. [Center of Neurology and Hertie Institute for Clinical Brain Research, 72076 Tuebingen (Germany); Wolburg, Hartwig [Institute of Pathology, University of Tuebingen, 72076 Tuebingen (Germany); Ziviani, Elena; Whitworth, Alexander J. [Medical Research Council Centre for Developmental and Biomedical Genetics, University of Sheffield, Sheffield S10 2TN (United Kingdom); Martins, L. Miguel [Cell Death Regulation Laboratory, MRC Toxicology Unit, Leicester LE1 9HN (United Kingdom); Kahle, Philipp J., E-mail: philipp.kahle@uni-tuebingen.de [Center of Neurology and Hertie Institute for Clinical Brain Research, 72076 Tuebingen (Germany); Krueger, Rejko, E-mail: rejko.krueger@uni-tuebingen.de [Center of Neurology and Hertie Institute for Clinical Brain Research, 72076 Tuebingen (Germany)

    2010-04-15

    Loss of Omi/HtrA2 function leads to nerve cell loss in mouse models and has been linked to neurodegeneration in Parkinson's and Huntington's disease. Omi/HtrA2 is a serine protease released as a pro-apoptotic factor from the mitochondrial intermembrane space into the cytosol. Under physiological conditions, Omi/HtrA2 is thought to be involved in protection against cellular stress, but the cytological and molecular mechanisms are not clear. Omi/HtrA2 deficiency caused an accumulation of reactive oxygen species and reduced mitochondrial membrane potential. In Omi/HtrA2 knockout mouse embryonic fibroblasts, as well as in Omi/HtrA2 silenced human HeLa cells and Drosophila S2R+ cells, we found elongated mitochondria by live cell imaging. Electron microscopy confirmed the mitochondrial morphology alterations and showed abnormal cristae structure. Examining the levels of proteins involved in mitochondrial fusion, we found a selective up-regulation of more soluble OPA1 protein. Complementation of knockout cells with wild-type Omi/HtrA2 but not with the protease mutant [S306A]Omi/HtrA2 reversed the mitochondrial elongation phenotype and OPA1 alterations. Finally, co-immunoprecipitation showed direct interaction of Omi/HtrA2 with endogenous OPA1. Thus, we show for the first time a direct effect of loss of Omi/HtrA2 on mitochondrial morphology and demonstrate a novel role of this mitochondrial serine protease in the modulation of OPA1. Our results underscore a critical role of impaired mitochondrial dynamics in neurodegenerative disorders.

  7. Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1

    International Nuclear Information System (INIS)

    Kieper, Nicole; Holmstroem, Kira M.; Ciceri, Dalila; Fiesel, Fabienne C.; Wolburg, Hartwig; Ziviani, Elena; Whitworth, Alexander J.; Martins, L. Miguel; Kahle, Philipp J.; Krueger, Rejko

    2010-01-01

    Loss of Omi/HtrA2 function leads to nerve cell loss in mouse models and has been linked to neurodegeneration in Parkinson's and Huntington's disease. Omi/HtrA2 is a serine protease released as a pro-apoptotic factor from the mitochondrial intermembrane space into the cytosol. Under physiological conditions, Omi/HtrA2 is thought to be involved in protection against cellular stress, but the cytological and molecular mechanisms are not clear. Omi/HtrA2 deficiency caused an accumulation of reactive oxygen species and reduced mitochondrial membrane potential. In Omi/HtrA2 knockout mouse embryonic fibroblasts, as well as in Omi/HtrA2 silenced human HeLa cells and Drosophila S2R+ cells, we found elongated mitochondria by live cell imaging. Electron microscopy confirmed the mitochondrial morphology alterations and showed abnormal cristae structure. Examining the levels of proteins involved in mitochondrial fusion, we found a selective up-regulation of more soluble OPA1 protein. Complementation of knockout cells with wild-type Omi/HtrA2 but not with the protease mutant [S306A]Omi/HtrA2 reversed the mitochondrial elongation phenotype and OPA1 alterations. Finally, co-immunoprecipitation showed direct interaction of Omi/HtrA2 with endogenous OPA1. Thus, we show for the first time a direct effect of loss of Omi/HtrA2 on mitochondrial morphology and demonstrate a novel role of this mitochondrial serine protease in the modulation of OPA1. Our results underscore a critical role of impaired mitochondrial dynamics in neurodegenerative disorders.

  8. Pitfalls in genetic testing: the story of missed SCN1A mutations

    OpenAIRE

    Djémié, T.; Weckhuysen, S.; von Spiczak, S.; Carvill, G. L.; Jaehn, J.; Anttonen, A-K; Brilstra, E.; Caglayan, H. S.; de Kovel, C. G.; Depienne, C.; Gaily, E.; Gennaro, E.; Giraldez, B. G.; Gormley, P.; Guerrero-López, R.

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated ...

  9. Pitfalls in genetic testing : the story of missed SCN1A mutations

    OpenAIRE

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S; de Kovel, Carolien G; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G; Gormley, Padhraig; Guerrero-López, Rosa

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated ...

  10. Pitfalls in genetic testing: the story of missed SCN1A mutations

    OpenAIRE

    Jennings, Lawrence J.; Kirschmann, Dawn

    2016-01-01

    Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.

  11. Copper deficiency alters cell bioenergetics and induces mitochondrial fusion through up-regulation of MFN2 and OPA1 in erythropoietic cells

    International Nuclear Information System (INIS)

    Bustos, Rodrigo I.; Jensen, Erik L.; Ruiz, Lina M.; Rivera, Salvador; Ruiz, Sebastián; Simon, Felipe; Riedel, Claudia; Ferrick, David; Elorza, Alvaro A.

    2013-01-01

    Highlights: •In copper deficiency, cell proliferation is not affected. In turn, cell differentiation is impaired. •Enlarged mitochondria are due to up-regulation of MNF2 and OPA1. •Mitochondria turn off respiratory chain and ROS production. •Energy metabolism switch from mitochondria to glycolysis. -- Abstract: Copper is essential in cell physiology, participating in numerous enzyme reactions. In mitochondria, copper is a cofactor for respiratory complex IV, the cytochrome c oxidase. Low copper content is associated with anemia and the appearance of enlarged mitochondria in erythropoietic cells. These findings suggest a connection between copper metabolism and bioenergetics, mitochondrial dynamics and erythropoiesis, which has not been explored so far. Here, we describe that bathocuproine disulfonate-induced copper deficiency does not alter erythropoietic cell proliferation nor induce apoptosis. However it does impair erythroid differentiation, which is associated with a metabolic switch between the two main energy-generating pathways. That is, from mitochondrial function to glycolysis. Switching off mitochondria implies a reduction in oxygen consumption and ROS generation along with an increase in mitochondrial membrane potential. Mitochondrial fusion proteins MFN2 and OPA1 were up-regulated along with the ability of mitochondria to fuse. Morphometric analysis of mitochondria did not show changes in total mitochondrial biomass but rather bigger mitochondria because of increased fusion. Similar results were also obtained with human CD34+, which were induced to differentiate into red blood cells. In all, we have shown that adequate copper levels are important for maintaining proper mitochondrial function and for erythroid differentiation where the energy metabolic switch plus the up-regulation of fusion proteins define an adaptive response to copper deprivation to keep cells alive

  12. Copper deficiency alters cell bioenergetics and induces mitochondrial fusion through up-regulation of MFN2 and OPA1 in erythropoietic cells

    Energy Technology Data Exchange (ETDEWEB)

    Bustos, Rodrigo I.; Jensen, Erik L.; Ruiz, Lina M.; Rivera, Salvador; Ruiz, Sebastián [Center for Biomedical Research, Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago (Chile); Simon, Felipe; Riedel, Claudia [Center for Biomedical Research, Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago (Chile); Millennium Institute of Immunology and Immunotherapy, Santiago (Chile); Ferrick, David [Seahorse Bioscience, Billerica, MA (United States); Elorza, Alvaro A., E-mail: aelorza@unab.cl [Center for Biomedical Research, Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago (Chile); Millennium Institute of Immunology and Immunotherapy, Santiago (Chile)

    2013-08-02

    Highlights: •In copper deficiency, cell proliferation is not affected. In turn, cell differentiation is impaired. •Enlarged mitochondria are due to up-regulation of MNF2 and OPA1. •Mitochondria turn off respiratory chain and ROS production. •Energy metabolism switch from mitochondria to glycolysis. -- Abstract: Copper is essential in cell physiology, participating in numerous enzyme reactions. In mitochondria, copper is a cofactor for respiratory complex IV, the cytochrome c oxidase. Low copper content is associated with anemia and the appearance of enlarged mitochondria in erythropoietic cells. These findings suggest a connection between copper metabolism and bioenergetics, mitochondrial dynamics and erythropoiesis, which has not been explored so far. Here, we describe that bathocuproine disulfonate-induced copper deficiency does not alter erythropoietic cell proliferation nor induce apoptosis. However it does impair erythroid differentiation, which is associated with a metabolic switch between the two main energy-generating pathways. That is, from mitochondrial function to glycolysis. Switching off mitochondria implies a reduction in oxygen consumption and ROS generation along with an increase in mitochondrial membrane potential. Mitochondrial fusion proteins MFN2 and OPA1 were up-regulated along with the ability of mitochondria to fuse. Morphometric analysis of mitochondria did not show changes in total mitochondrial biomass but rather bigger mitochondria because of increased fusion. Similar results were also obtained with human CD34+, which were induced to differentiate into red blood cells. In all, we have shown that adequate copper levels are important for maintaining proper mitochondrial function and for erythroid differentiation where the energy metabolic switch plus the up-regulation of fusion proteins define an adaptive response to copper deprivation to keep cells alive.

  13. Pitfalls in genetic testing : the story of missed SCN1A mutations

    NARCIS (Netherlands)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S; de Kovel, Carolien G; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G; Gormley, Padhraig; Guerrero-López, Rosa; Guerrini, Renzo; Hämäläinen, Eija; Hartmann, Corinna; Hernandez-Hernandez, Laura; Hjalgrim, Helle; Koeleman, Bobby P C; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R; Leu, Costin; Marini, Carla; McMahon, Jacinta M; Mei, Davide; Møller, Rikke S; Muhle, Hiltrud; Myers, Candace T; Nava, Caroline; Serratosa, Jose M; Sisodiya, Sanjay M; Stephani, Ulrich; Striano, Pasquale; van Kempen, Marjan J A; Verbeek, Nienke E; Usluer, Sunay; Zara, Federico; Palotie, Aarno; Mefford, Heather C; Scheffer, Ingrid E; De Jonghe, Peter; Helbig, Ingo; Suls, Arvid

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying

  14. PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis

    International Nuclear Information System (INIS)

    Aggarwal, Varun; Dobrolet, Nancy; Fishberger, Steven; Zablah, Jenny; Jayakar, Parul; Ammous, Zineb

    2005-01-01

    Mutations in PRKAG2 gene that regulates the γ2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system abnormalities. These patients can potentially be misdiagnosed as hypertrophic cardiomyopathy (HOCM) and/or Wolf-Parkinson White (WPW) syndrome due to similar clinical phenotype. Early recognition of this disease entity is very important as ablation of suspected accessory pathways is not effective and the natural history of the disease is very different from HOCM and WPW syndrome

  15. Mitochondrial Reactive Oxygen Species in Lipotoxic Hearts Induce Post-Translational Modifications of AKAP121, DRP1, and OPA1 That Promote Mitochondrial Fission.

    Science.gov (United States)

    Tsushima, Kensuke; Bugger, Heiko; Wende, Adam R; Soto, Jamie; Jenson, Gregory A; Tor, Austin R; McGlauflin, Rose; Kenny, Helena C; Zhang, Yuan; Souvenir, Rhonda; Hu, Xiao X; Sloan, Crystal L; Pereira, Renata O; Lira, Vitor A; Spitzer, Kenneth W; Sharp, Terry L; Shoghi, Kooresh I; Sparagna, Genevieve C; Rog-Zielinska, Eva A; Kohl, Peter; Khalimonchuk, Oleh; Schaffer, Jean E; Abel, E Dale

    2018-01-05

    Cardiac lipotoxicity, characterized by increased uptake, oxidation, and accumulation of lipid intermediates, contributes to cardiac dysfunction in obesity and diabetes mellitus. However, mechanisms linking lipid overload and mitochondrial dysfunction are incompletely understood. To elucidate the mechanisms for mitochondrial adaptations to lipid overload in postnatal hearts in vivo. Using a transgenic mouse model of cardiac lipotoxicity overexpressing ACSL1 (long-chain acyl-CoA synthetase 1) in cardiomyocytes, we show that modestly increased myocardial fatty acid uptake leads to mitochondrial structural remodeling with significant reduction in minimum diameter. This is associated with increased palmitoyl-carnitine oxidation and increased reactive oxygen species (ROS) generation in isolated mitochondria. Mitochondrial morphological changes and elevated ROS generation are also observed in palmitate-treated neonatal rat ventricular cardiomyocytes. Palmitate exposure to neonatal rat ventricular cardiomyocytes initially activates mitochondrial respiration, coupled with increased mitochondrial polarization and ATP synthesis. However, long-term exposure to palmitate (>8 hours) enhances ROS generation, which is accompanied by loss of the mitochondrial reticulum and a pattern suggesting increased mitochondrial fission. Mechanistically, lipid-induced changes in mitochondrial redox status increased mitochondrial fission by increased ubiquitination of AKAP121 (A-kinase anchor protein 121) leading to reduced phosphorylation of DRP1 (dynamin-related protein 1) at Ser637 and altered proteolytic processing of OPA1 (optic atrophy 1). Scavenging mitochondrial ROS restored mitochondrial morphology in vivo and in vitro. Our results reveal a molecular mechanism by which lipid overload-induced mitochondrial ROS generation causes mitochondrial dysfunction by inducing post-translational modifications of mitochondrial proteins that regulate mitochondrial dynamics. These findings provide a

  16. Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.

    Science.gov (United States)

    Titah, Salah Mohamed Cherif; Meunier, Isabelle; Blanchet, Catherine; Lopez, Severine; Rondouin, Gerard; Lenaers, Guy; Amati-Bonneau, Patrizia; Reynier, Pascal; Paquis-Flucklinger, Veronique; Hamel, Christian P

    2012-01-01

    Wolfram syndrome (WS) or diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) (OMIM 222300) is an inherited neurodegenerative disease characterized by diabetes mellitus and optic atrophy as the 2 major criteria, followed later in life by deafness, diabetes insipidus, and various signs of neurologic impairment. The presence of a cataract has been variably mentioned in WS. Two members of a family had thorough ophthalmic examination and their DNA was screened for mutations in mitochondrial DNA, WFS1, OPA1, and OPA3 genes. We report a patient who first had surgery for bilateral cataract at age 5 and who subsequently presented typical signs of WS, i.e., diabetes mellitus, optic atrophy with reduced visual acuity at 20/400 on both eyes at age 22, and mild deafness. The patient was found to be a compound heterozygote for 2 truncating mutations in WFS1, the major WS gene. She carried the previously reported c.1231_1233 delCT and a novel c.2431_2465dup35 mutation. She also was heterozygote for a novel OPA1 sequence variant, c.929A>G in exon 9, whose pathogenicity remains uncertain. The patient's mother was a heterozygous carrier of the c.2431_2465dup35 mutation. She did not have diabetes mellitus or optic atrophy but had bilateral polar cataract. She did not carry the OPA1 sequence variant. Cataract could be a marker for the WFS1 heterozygosity in this family, namely the c.2431_2465dup35 mutation.

  17. Miss Lora juveelikauplus = Miss Lora jewellery store

    Index Scriptorium Estoniae

    2009-01-01

    Narvas Fama kaubanduskeskuses (Tallinna mnt. 19c) asuva juveelikaupluse Miss Lora sisekujundusest. Sisearhitektid Annes Arro ja Hanna Karits. Poe sisu - vitriinkapid, vaip, valgustid - on valmistatud eritellimusel. Sisearhitektide tähtsamate tööde loetelu

  18. Principled Missing Data Treatments.

    Science.gov (United States)

    Lang, Kyle M; Little, Todd D

    2018-04-01

    We review a number of issues regarding missing data treatments for intervention and prevention researchers. Many of the common missing data practices in prevention research are still, unfortunately, ill-advised (e.g., use of listwise and pairwise deletion, insufficient use of auxiliary variables). Our goal is to promote better practice in the handling of missing data. We review the current state of missing data methodology and recent missing data reporting in prevention research. We describe antiquated, ad hoc missing data treatments and discuss their limitations. We discuss two modern, principled missing data treatments: multiple imputation and full information maximum likelihood, and we offer practical tips on how to best employ these methods in prevention research. The principled missing data treatments that we discuss are couched in terms of how they improve causal and statistical inference in the prevention sciences. Our recommendations are firmly grounded in missing data theory and well-validated statistical principles for handling the missing data issues that are ubiquitous in biosocial and prevention research. We augment our broad survey of missing data analysis with references to more exhaustive resources.

  19. Netbooks The Missing Manual

    CERN Document Server

    Biersdorfer, J

    2009-01-01

    Netbooks are the hot new thing in PCs -- small, inexpensive laptops designed for web browsing, email, and working with web-based programs. But chances are you don't know how to choose a netbook, let alone use one. Not to worry: with this Missing Manual, you'll learn which netbook is right for you and how to set it up and use it for everything from spreadsheets for work to hobbies like gaming and photo sharing. Netbooks: The Missing Manual provides easy-to-follow instructions and lots of advice to help you: Learn the basics for using a Windows- or Linux-based netbookConnect speakers, printe

  20. PCs The Missing Manual

    CERN Document Server

    Karp, David

    2005-01-01

    Your vacuum comes with one. Even your blender comes with one. But your PC--something that costs a whole lot more and is likely to be used daily and for tasks of far greater importance and complexity--doesn't come with a printed manual. Thankfully, that's not a problem any longer: PCs: The Missing Manual explains everything you need to know about PCs, both inside and out, and how to keep them running smoothly and working the way you want them to work. A complete PC manual for both beginners and power users, PCs: The Missing Manual has something for everyone. PC novices will appreciate the una

  1. Mani, Miss Anna Modayil

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1960 Section: Earth & Planetary Sciences. Mani, Miss Anna Modayil A.I.I.Sc., FNA 1971-79; Secretary 1977-79. Date of birth: 23 August 1918. Date of death: 16 August 2001. Specialization: Atmospheric Physics and Instrumentation Last known address: c/o Mr K.T. Chandy, 14, ...

  2. Some 'Near Miss ' Experiences

    African Journals Online (AJOL)

    perienced health Workers, especially at lower level units, poor referral ... in the wards or operating theatre, and inability to access the busy health .... clinics, costs incurred and by who, who decided on hospitalisation, who .... pected pregnancy as I had missed my period the previous month. .... the patient received attention.

  3. The Missing Entrepreneurs 2014

    DEFF Research Database (Denmark)

    Halabisky, David; Potter, Jonathan; Thompson, Stuart

    OECD's LEED Programme and the European Commission's DG on Employment, Social Affairs and Inclusion recently published the second book as part of their programme of work on inclusive entrepreneurship. The Missing Entrepreneurs 2014 examines how public policies at national and local levels can...

  4. Missing School Matters

    Science.gov (United States)

    Balfanz, Robert

    2016-01-01

    Results of a survey conducted by the Office for Civil Rights show that 6 million public school students (13%) are not attending school regularly. Chronic absenteeism--defined as missing more than 10% of school for any reason--has been negatively linked to many key academic outcomes. Evidence shows that students who exit chronic absentee status can…

  5. Missed opportunities in crystallography.

    Science.gov (United States)

    Dauter, Zbigniew; Jaskolski, Mariusz

    2014-09-01

    Scrutinized from the perspective of time, the giants in the history of crystallography more than once missed a nearly obvious chance to make another great discovery, or went in the wrong direction. This review analyzes such missed opportunities focusing on macromolecular crystallographers (using Perutz, Pauling, Franklin as examples), although cases of particular historical (Kepler), methodological (Laue, Patterson) or structural (Pauling, Ramachandran) relevance are also described. Linus Pauling, in particular, is presented several times in different circumstances, as a man of vision, oversight, or even blindness. His example underscores the simple truth that also in science incessant creativity is inevitably connected with some probability of fault. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.

  6. Miss World going deshi

    DEFF Research Database (Denmark)

    Wildermuth, Norbert

      In November 1996 the South Indian metropolis Bangalore hosted the annual Miss World show. The live event and its televisualisation became a prominent symbol for the India's economic liberalisation and for the immanent globalizing dimensions of this development. As such, the highly prestigious......, the pageant's contestation, which gave rise to a series of vehement protests and a broad public debate about the country's cultural alienation, marked a crucial point in time and trend towards the (re)localisation of the Indian television landscape. In consequence, the 1996 Miss World show and its...... their vision and politics of gender, nation and modernity on the larger Indian public, over the last two decades. Engaging the Indian population increasingly by way of the new electronic, c&s distributed media, competing discourses of gender and sexuality were projected, basically as a necessary, effective...

  7. The missed diagnosis

    International Nuclear Information System (INIS)

    Bundy, A.L.

    1988-01-01

    One of the questions that haunts the radiologist as he shuffles through piles of films is ''What am I missing?'' This same question takes on even more meaning when the radiologist is pressed for time, when he reluctantly checks the night work of the resident, when the patient left before more or better films could be obtained; or when the radiologist is involved in a subspecialty in which he is not properly trained. According to Dr. Berlin's survey, the missed diagnosis category accounted for the largest number of radiology malpractice cases. We all know that many diagnoses are more easily made using the ''retrospectoscope.'' But is the plaintiff attorney also adept at using this instrument? Just how knowledgeable must the radiologist be in the use of the ''prospectoscope''? A familiarity with cases that have already been tried should at least alert radiologists to the chances of their own involvement in litigation. While the missed diagnosis is by no means peculiar to the radiologist, it is one of the principal reasons that he may find himself in court

  8. Semiparametric Theory and Missing Data

    CERN Document Server

    Tsiatis, Anastasios A

    2006-01-01

    Missing data arise in almost all scientific disciplines. In many cases, missing data in an analysis is treated in a casual and ad-hoc manner, leading to invalid inferences and erroneous conclusions. This book summarizes knowledge regarding the theory of estimation for semiparametric models with missing data.

  9. Facebook The Missing Manual

    CERN Document Server

    Veer, E

    2011-01-01

    Facebook's spreading about as far and fast as the Web itself: 500 million members and counting. But there's a world of fun packed into the site that most folks miss. With this bestselling guide, learn how to unlock Facebook's talents as personal website creator, souped-up address book, and bustling community forum. It's an eye-opening, timesaving tour, guaranteed to help you get the most out of your Facebook experience. Coverage includes: Get started, get connected. Signing up is easy, but the real payoff comes when you tap into networks of coworkers, classmates, and friends. Pick and choose

  10. New or ν missing energy

    DEFF Research Database (Denmark)

    Franzosi, Diogo Buarque; Frandsen, Mads T.; Shoemaker, Ian M.

    2016-01-01

    flavor structures. Monojet data alone can be used to infer the mass of the "missing particle" from the shape of the missing energy distribution. In particular, 13 TeV LHC data will have sensitivity to DM masses greater than $\\sim$ 1 TeV. In addition to the monojet channel, NSI can be probed in multi......Missing energy signals such as monojets are a possible signature of Dark Matter (DM) at colliders. However, neutrino interactions beyond the Standard Model may also produce missing energy signals. In order to conclude that new "missing particles" are observed the hypothesis of BSM neutrino......-lepton searches which we find to yield stronger limits at heavy mediator masses. The sensitivity offered by these multi-lepton channels provide a method to reject or confirm the DM hypothesis in missing energy searches....

  11. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.

    Science.gov (United States)

    Hartmann, Bianca; Wai, Timothy; Hu, Hao; MacVicar, Thomas; Musante, Luciana; Fischer-Zirnsak, Björn; Stenzel, Werner; Gräf, Ralph; van den Heuvel, Lambert; Ropers, Hans-Hilger; Wienker, Thomas F; Hübner, Christoph; Langer, Thomas; Kaindl, Angela M

    2016-08-06

    Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent. The homozygous missense mutation, located in a highly conserved region in the mitochondrial pre-sequence, inhibits cleavage of YME1L1 by the mitochondrial processing peptidase, which culminates in the rapid degradation of YME1L1 precursor protein. Impaired YME1L1 function causes a proliferation defect and mitochondrial network fragmentation due to abnormal processing of OPA1. Our results identify mutations in YME1L1 as a cause of a mitochondriopathy with optic nerve atrophy highlighting the importance of YME1L1 for mitochondrial functionality in humans.

  12. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

    Science.gov (United States)

    Hartmann, Bianca; Wai, Timothy; Hu, Hao; MacVicar, Thomas; Musante, Luciana; Fischer-Zirnsak, Björn; Stenzel, Werner; Gräf, Ralph; van den Heuvel, Lambert; Ropers, Hans-Hilger; Wienker, Thomas F; Hübner, Christoph; Langer, Thomas; Kaindl, Angela M

    2016-01-01

    Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent. The homozygous missense mutation, located in a highly conserved region in the mitochondrial pre-sequence, inhibits cleavage of YME1L1 by the mitochondrial processing peptidase, which culminates in the rapid degradation of YME1L1 precursor protein. Impaired YME1L1 function causes a proliferation defect and mitochondrial network fragmentation due to abnormal processing of OPA1. Our results identify mutations in YME1L1 as a cause of a mitochondriopathy with optic nerve atrophy highlighting the importance of YME1L1 for mitochondrial functionality in humans. DOI: http://dx.doi.org/10.7554/eLife.16078.001 PMID:27495975

  13. Wikipedia the missing manual

    CERN Document Server

    Broughton, John

    2008-01-01

    Want to be part of the largest group-writing project in human history? Learn how to contribute to Wikipedia, the user-generated online reference for the 21st century. Considered more popular than eBay, Microsoft.com, and Amazon.com, Wikipedia servers respond to approximately 30,000 requests per second, or about 2.5 billion per day. It's become the first point of reference for people the world over who need a fact fast.If you want to jump on board and add to the content, Wikipedia: The Missing Manual is your first-class ticket. Wikipedia has more than 9 million entries in 250 languages, over 2

  14. Flexible Imputation of Missing Data

    CERN Document Server

    van Buuren, Stef

    2012-01-01

    Missing data form a problem in every scientific discipline, yet the techniques required to handle them are complicated and often lacking. One of the great ideas in statistical science--multiple imputation--fills gaps in the data with plausible values, the uncertainty of which is coded in the data itself. It also solves other problems, many of which are missing data problems in disguise. Flexible Imputation of Missing Data is supported by many examples using real data taken from the author's vast experience of collaborative research, and presents a practical guide for handling missing data unde

  15. Missing money and missing markets: Reliability, capacity auctions and interconnectors

    International Nuclear Information System (INIS)

    Newbery, David

    2016-01-01

    In the energy trilemma of reliability, sustainability and affordability, politicians treat reliability as over-riding. The EU assumes the energy-only Target Electricity Model will deliver reliability but the UK argues that a capacity remuneration mechanism is needed. This paper argues that capacity auctions tend to over-procure capacity, exacerbating the missing money problem they were designed to address. The bias is further exacerbated by failing to address some of the missing market problems also neglected in the debate. It examines the case for, criticisms of, and outcome of the first GB capacity auction and problems of trading between different capacity markets. - Highlights: •Energy-only markets can work if they avoid missing money and missing market problems. •Policy makers over-estimate the cost of so-called “loss of load events”. •Policy makers tend to over-procure capacity, exacerbating the missing money problem. •Rectifying missing market problems simplifies trade between different capacity markets. •Addressing missing market problems makes under-procurement cheaper than over-procurement.

  16. Conversations with Miss Jane

    Directory of Open Access Journals (Sweden)

    Geneviève Fabre

    2006-05-01

    Full Text Available Considering the wide range of conversations in the autobiography, this essay will attempt to appraise the importance of these verbal exchanges in relation to the overall narrative structure of the book and to the prevalent oral tradition in Louisiana culture, as both an individual and communal expression. The variety of circumstances, the setting and staging, the interlocutors , and the complex intersection of time and place, of stories and History, will be examined; in these conversations with Miss Jane many actors participate, from  the interviewer-narrator, to most characters; even the reader becomes involved.Speaking, hearing, listening, keeping silent is an elaborate ritual that performs many functions; besides conveying news or rumors, it imparts information on the times and on the life of a “representative” woman whose existence - spanning a whole century- is both singular and emblematic. Most importantly this essay will analyse the resonance of an eventful and often dramatic era on her sensibility and conversely show how her evolving sensibility informs that history and draws attention to aspects that might have passed unnoticed or be forever silenced. Jane’s desire for liberty and justice is often challenged as she faces the possibilities of life or death.Conversations build up a complex, often contradictory, but compelling portrait: torn between silence and vehemence, between memories and the urge to meet the future, Jane summons body and mind to find her way through the maze of a fast changing world; self-willed and obstinate she claims her right to speak, to express with wit and wisdom her firm belief in the word, in the ability to express deep seated convictions and faith and a whole array of feelings and emotions.

  17. Missed hormonal contraceptives: new recommendations.

    Science.gov (United States)

    Guilbert, Edith; Black, Amanda; Dunn, Sheila; Senikas, Vyta

    2008-11-01

    To provide evidence-based guidance for women and their health care providers on the management of missed or delayed hormonal contraceptive doses in order to prevent unintended pregnancy. Medline, PubMed, and the Cochrane Database were searched for articles published in English, from 1974 to 2007, about hormonal contraceptive methods that are available in Canada and that may be missed or delayed. Relevant publications and position papers from appropriate reproductive health and family planning organizations were also reviewed. The quality of evidence is rated using the criteria developed by the Canadian Task Force on Preventive Health Care. This committee opinion will help health care providers offer clear information to women who have not been adherent in using hormonal contraception with the purpose of preventing unintended pregnancy. The Society of Obstetricians and Gynaecologists of Canada. SUMMARY STATEMENTS: 1. Instructions for what women should do when they miss hormonal contraception have been complex and women do not understand them correctly. (I) 2. The highest risk of ovulation occurs when the hormone-free interval is prolonged for more than seven days, either by delaying the start of combined hormonal contraceptives or by missing active hormone doses during the first or third weeks of combined oral contraceptives. (II) Ovulation rarely occurs after seven consecutive days of combined oral contraceptive use. (II) RECOMMENDATIONS: 1. Health care providers should give clear, simple instructions, both written and oral, on missed hormonal contraceptive pills as part of contraceptive counselling. (III-A) 2. Health care providers should provide women with telephone/electronic resources for reference in the event of missed or delayed hormonal contraceptives. (III-A) 3. In order to avoid an increased risk of unintended pregnancy, the hormone-free interval should not exceed seven days in combined hormonal contraceptive users. (II-A) 4. Back-up contraception should

  18. Droid X The Missing Manual

    CERN Document Server

    Gralla, Preston

    2011-01-01

    Get the most from your Droid X right away with this entertaining Missing Manual. Veteran tech author Preston Gralla offers a guided tour of every feature, with lots of expert tips and tricks along the way. You'll learn how to use calling and texting features, take and share photos, enjoy streaming music and video, and much more. Packed with full-color illustrations, this engaging book covers everything from getting started to advanced features and troubleshooting. Unleash the power of Motorola's hot new device with Droid X: The Missing Manual. Get organized. Import your contacts and sync wit

  19. Motorola Xoom The Missing Manual

    CERN Document Server

    Gralla, Preston

    2011-01-01

    Motorola Xoom is the first tablet to rival the iPad, and no wonder with all of the great features packed into this device. But learning how to use everything can be tricky-and Xoom doesn't come with a printed guide. That's where this Missing Manual comes in. Gadget expert Preston Gralla helps you master your Xoom with step-by-step instructions and clear explanations. As with all Missing Manuals, this book offers refreshing, jargon-free prose and informative illustrations. Use your Xoom as an e-book reader, music player, camcorder, and phoneKeep in touch with email, video and text chat, and so

  20. Did you miss the eclipse?

    CERN Multimedia

    CERN Bulletin

    2015-01-01

    Not wanting to miss a moment of the beautiful celestial dance that played out on Friday, 20 March, Jens Roder of CERN’s PH group took to the Jura mountains, where he got several shots of the event. Here are a selection of his photos, which he was kind enough to share with the Bulletin and its readers.  

  1. Missing Boxes in Central Europe

    DEFF Research Database (Denmark)

    Prockl, Günter; Weibrecht Kristensen, Kirsten

    2015-01-01

    The Chinese New Year is an event that obviously happens every year. Every year however it also causes severe problems for the companies involved in the industry in form of missing containers throughout the chain but in particular in the European Hinterland. Illustrated on the symptoms of the Chin...

  2. Miss Julie: A Psychoanalytic Study

    Directory of Open Access Journals (Sweden)

    Sonali Jain

    2015-10-01

    Full Text Available Sigmund Freud theorized that ‘the hero of the tragedy must suffer…to bear the burden of tragic guilt…(that lay in rebellion against some divine or human authority.’ August Strindberg, the Swedish poet, playwright, author and visual artist, like Shakespeare before him, portrayed insanity as the ultimate of tragic conflict. In this paper I seek to explore and reiterate the dynamics of human relationships that are as relevant today as they were in Strindberg’s time. I propose to examine Strindberg’s Miss Julie, a play set in nineteenth century Sweden, through a psychoanalytic lens. The play deals with bold themes of class and sexual identity politics. Notwithstanding the progress made in breaking down gender barriers, the inequalities inherent in a patriarchal system persist in modern society. Miss Julie highlights these imbalances. My analysis of the play deals with issues of culture and psyche, and draws on Freud, Melanie Klein, Lacan, Luce Irigaray and other contemporary feminists. Miss Julie is a discourse on hysteria, which is still pivotal to psychoanalysis. Prominent philosophers like Hegel and the psychoanalyst Jacques Lacan have written about the dialectic of the master and the slave – a relationship that is characterized by dependence, demand and cruelty. The history of human civilization shows beyond any doubt that there is an intimate connection between cruelty and the sexual instinct. An analysis of the text is carried out using the sado-masochistic dynamic as well the slave-master discourse. I argue that Miss Julie subverts the slave-master relationship. The struggle for dominance and power is closely linked with the theme of sexuality in the unconscious. To quote the English actor and director Alan Rickman, ‘Watching or working on the plays of Strindberg is like seeing the skin, flesh and bones of life separated from each other. Challenging and timeless.’

  3. Methods for Mediation Analysis with Missing Data

    Science.gov (United States)

    Zhang, Zhiyong; Wang, Lijuan

    2013-01-01

    Despite wide applications of both mediation models and missing data techniques, formal discussion of mediation analysis with missing data is still rare. We introduce and compare four approaches to dealing with missing data in mediation analysis including list wise deletion, pairwise deletion, multiple imputation (MI), and a two-stage maximum…

  4. Slp-76 is a critical determinant of NK cell-mediated recognition of missing-self targets

    OpenAIRE

    Lampe, Kristin; Endale, Mehari; Cashman, Siobhan; Fang, Hao; Mattner, Jochen; Hildeman, David; Hoebe, Kasper

    2015-01-01

    Absence of MHC class I expression is an important mechanism by which NK cells recognize a variety of target cells, yet the pathways underlying “missing-self” recognition, including the involvement of activating receptors, remain poorly understood. Using ENU mutagenesis in mice, we identified a germline mutant, designated Ace, with a marked defect in NK cell-mediated recognition and elimination of “missing-self” targets. The causative mutation was linked to chromosome 11 and identified as a mi...

  5. The 50 million missing women.

    Science.gov (United States)

    Allahbadia, Gautam N

    2002-09-01

    The epidemic of gender selection is ravaging countries like India & China. Approximately fifty million women are "missing" in the Indian population. Generally three principle causes are given: female infanticide, better food and health care for boys and maternal death at childbirth. Prenatal sex determination and the abortion of female fetuses threatens to skew the sex ratio to new highs. Estimates of the number of female fetuses being destroyed every year in India vary from two million to five million. This review from India attempts to summarize all the currently available methods of sex selection and also highlights the current medical practice regards the subject in south-east Asia.

  6. Measurement of Missing Tranverse Energy

    CERN Document Server

    The ATLAS Collaboration

    2009-01-01

    This note discusses the overall ATLAS detector performance for the reconstruction of the missing transverse energy, ETmiss. Two reconstruction algorithms are discussed and their performance is evaluated for a variety of simulated physics processes which probe different topologies and different total transverse energy regimes. In addition, effects of fake ETmiss, resulting from instrumental effects and from false reconstructions are investigated. Finally, studies with first data, corresponding to an integrated luminosity of 100 pb-1, are suggested which can be used to assess and calibrate the ETmiss performance at the startup of data taking.

  7. Bayes reconstruction of missing teeth

    DEFF Research Database (Denmark)

    Sporring, Jon; Jensen, Katrine Hommelhoff

    2008-01-01

    contains two major parts: A statistical model of a selection of tooth shapes and a reconstruction of missing data. We use a training set consisting of 3D scans of dental cast models obtained with a laser scanner, and we have build a model of the shape variability of the teeth, their neighbors...... or equivalently noise elimination and for data analysis. However for small sets of high dimensional data, the log-likelihood estimator for the covariance matrix is often far from convergence, and therefore reliable models must be obtained by use of prior information. We propose a natural and intrinsic...

  8. Windows 7 The Missing Manual

    CERN Document Server

    Pogue, David

    2010-01-01

    In early reviews, geeks raved about Windows 7. But if you're an ordinary mortal, learning what this new system is all about will be challenging. Fear not: David Pogue's Windows 7: The Missing Manual comes to the rescue. Like its predecessors, this book illuminates its subject with reader-friendly insight, plenty of wit, and hardnosed objectivity for beginners as well as veteran PC users. Windows 7 fixes many of Vista's most painful shortcomings. It's speedier, has fewer intrusive and nagging screens, and is more compatible with peripherals. Plus, Windows 7 introduces a slew of new features,

  9. Are there missing convective currents?

    International Nuclear Information System (INIS)

    Chen, C.Y.

    1992-01-01

    It is revealed in this letter that as far as distribution functions obtained from gyrokinetic equations are concerned, the standard formulae to evaluate currents in plasmas are not applicable due to the fact that those distribution functions are given in a moving coordinate frame and the moving is essentially related to perturbed fields. With heuristic and analytic approaches, appropriate formulae are obtained to evaluate several types of currents in plasmas of which some have been missing in previous approaches. (author). 6 refs, 1 fig

  10. What We’re Missing

    OpenAIRE

    Camille R. Whitney; Jing Liu

    2017-01-01

    For schools and teachers to help students develop knowledge and skills, students need to show up to class. Yet absenteeism is prevalent, especially in secondary schools. This study uses a rich data set tracking class attendance by day for over 50,000 middle and high school students from an urban district in academic years 2007–2008 through 2012–2013. Our results extend and modify the extant findings on absenteeism that have been based almost exclusively on full-day absenteeism, missing class-...

  11. Missing mass of the Universe

    International Nuclear Information System (INIS)

    Mazure, A.

    1989-01-01

    The first evidence for missing mass or dark matter comes from the 30's. On one hand, Oort noted that in the solar neighbourhood the mass of the stars (inferred from count numbers) cannot account for their observed velocities. On the other hand, observation on the sky of various galaxy condensations like the Coma cluster let suppose that they are actual bound systems and not only statistical fluctuations. However, with such an assumption, Zwicky concluded that the velocity dispersion of galaxies in Coma required 100 times more mass than contained in galaxies. Since this period, refined observations, analyses and a reevaluation of the cosmic distance scale reduced this factor but the problem is still present. It is particularly striking for spiral galaxies where systematic observations of rotation curves lead to infer the presence of spherical massive halos. These dynamical evidences form the first missing mass problem. The second one appears with the development of Great Unified Theories for which the natural laboratory is the very early Universe. A consequence of these theories is that our Universe could be closed by exotic particles which interact only gravitationally [fr

  12. Time Series Forecasting with Missing Values

    OpenAIRE

    Shin-Fu Wu; Chia-Yung Chang; Shie-Jue Lee

    2015-01-01

    Time series prediction has become more popular in various kinds of applications such as weather prediction, control engineering, financial analysis, industrial monitoring, etc. To deal with real-world problems, we are often faced with missing values in the data due to sensor malfunctions or human errors. Traditionally, the missing values are simply omitted or replaced by means of imputation methods. However, omitting those missing values may cause temporal discontinuity. Imputation methods, o...

  13. HTML5 The Missing Manual

    CERN Document Server

    MacDonald, Matthew

    2011-01-01

    HTML5 is more than a markup language-it's a dozen independent web standards all rolled into one. Until now, all it's been missing is a manual. With this thorough, jargon-free guide, you'll learn how to build web apps that include video tools, dynamic drawings, geolocation, offline web apps, drag-and-drop, and many other features. HTML5 is the future of the Web, and with this book you'll reach it quickly. The important stuff you need to know: Structure web pages in a new way. Learn how HTML5 helps make web design tools and search engines work smarter.Add audio and video without plugins. Build

  14. Integrative missing value estimation for microarray data.

    Science.gov (United States)

    Hu, Jianjun; Li, Haifeng; Waterman, Michael S; Zhou, Xianghong Jasmine

    2006-10-12

    Missing value estimation is an important preprocessing step in microarray analysis. Although several methods have been developed to solve this problem, their performance is unsatisfactory for datasets with high rates of missing data, high measurement noise, or limited numbers of samples. In fact, more than 80% of the time-series datasets in Stanford Microarray Database contain less than eight samples. We present the integrative Missing Value Estimation method (iMISS) by incorporating information from multiple reference microarray datasets to improve missing value estimation. For each gene with missing data, we derive a consistent neighbor-gene list by taking reference data sets into consideration. To determine whether the given reference data sets are sufficiently informative for integration, we use a submatrix imputation approach. Our experiments showed that iMISS can significantly and consistently improve the accuracy of the state-of-the-art Local Least Square (LLS) imputation algorithm by up to 15% improvement in our benchmark tests. We demonstrated that the order-statistics-based integrative imputation algorithms can achieve significant improvements over the state-of-the-art missing value estimation approaches such as LLS and is especially good for imputing microarray datasets with a limited number of samples, high rates of missing data, or very noisy measurements. With the rapid accumulation of microarray datasets, the performance of our approach can be further improved by incorporating larger and more appropriate reference datasets.

  15. Integrative missing value estimation for microarray data

    Directory of Open Access Journals (Sweden)

    Zhou Xianghong

    2006-10-01

    Full Text Available Abstract Background Missing value estimation is an important preprocessing step in microarray analysis. Although several methods have been developed to solve this problem, their performance is unsatisfactory for datasets with high rates of missing data, high measurement noise, or limited numbers of samples. In fact, more than 80% of the time-series datasets in Stanford Microarray Database contain less than eight samples. Results We present the integrative Missing Value Estimation method (iMISS by incorporating information from multiple reference microarray datasets to improve missing value estimation. For each gene with missing data, we derive a consistent neighbor-gene list by taking reference data sets into consideration. To determine whether the given reference data sets are sufficiently informative for integration, we use a submatrix imputation approach. Our experiments showed that iMISS can significantly and consistently improve the accuracy of the state-of-the-art Local Least Square (LLS imputation algorithm by up to 15% improvement in our benchmark tests. Conclusion We demonstrated that the order-statistics-based integrative imputation algorithms can achieve significant improvements over the state-of-the-art missing value estimation approaches such as LLS and is especially good for imputing microarray datasets with a limited number of samples, high rates of missing data, or very noisy measurements. With the rapid accumulation of microarray datasets, the performance of our approach can be further improved by incorporating larger and more appropriate reference datasets.

  16. Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

    Science.gov (United States)

    Zeng, B; Lu, H; Xiao, X; Zhou, L; Lu, J; Zhu, L; Yu, D; Zhao, W

    2015-11-01

    X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormalities of hair, teeth, and sweat glands, while non-syndromic hypodontia (NSH) affects only teeth. Mutations in Ectodysplasin A (EDA) underlie both XLHED and NSH. This study investigated the genetic causes of six hypohidrotic ectodermal dysplasia (HED) patients and genotype-phenotype correlation. The EDA gene of six patients with HED was sequenced. Bioinformatics analysis and structural modeling for the mutations were performed. The records of 134 patients with XLHED and EDA-related NSH regarding numbers of missing permanent teeth from this study and 20 articles were reviewed. Nonparametric tests were used to analyze genotype-phenotype correlations. In four of the six patients, we identified a novel mutation c.852T>G (p.Phe284Leu) and three reported mutations: c.467G>A (p.Arg156His), c.776C>A (p.Ala259Glu), and c.871G>A (p.Gly291Arg). They were predicted to be pathogenic by bioinformatics analysis and structural modeling. Genotype-phenotype correlation analysis revealed that truncating mutations were associated with more missing teeth. Missense mutations and the mutations affecting the TNF homology domain were correlated with fewer missing teeth. This study extended the mutation spectrum of XLHED and revealed the relationship between genotype and the number of missing permanent teeth. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. A Review of Methods for Missing Data.

    Science.gov (United States)

    Pigott, Therese D.

    2001-01-01

    Reviews methods for handling missing data in a research study. Model-based methods, such as maximum likelihood using the EM algorithm and multiple imputation, hold more promise than ad hoc methods. Although model-based methods require more specialized computer programs and assumptions about the nature of missing data, these methods are appropriate…

  18. Methods for Handling Missing Secondary Respondent Data

    Science.gov (United States)

    Young, Rebekah; Johnson, David

    2013-01-01

    Secondary respondent data are underutilized because researchers avoid using these data in the presence of substantial missing data. The authors reviewed, evaluated, and tested solutions to this problem. Five strategies of dealing with missing partner data were reviewed: (a) complete case analysis, (b) inverse probability weighting, (c) correction…

  19. Student versus Faculty Perceptions of Missing Class.

    Science.gov (United States)

    Sleigh, Merry J.; Ritzer, Darren R.; Casey, Michael B.

    2002-01-01

    Examines and compares student and faculty attitudes towards students missing classes and class attendance. Surveys undergraduate students (n=231) in lower and upper level psychology courses and psychology faculty. Reports that students found more reasons acceptable for missing classes and that the amount of in-class material on the examinations…

  20. Methods to Minimize Zero-Missing Phenomenon

    DEFF Research Database (Denmark)

    da Silva, Filipe Miguel Faria; Bak, Claus Leth; Gudmundsdottir, Unnur Stella

    2010-01-01

    With the increasing use of high-voltage AC cables at transmission levels, phenomena such as current zero-missing start to appear more often in transmission systems. Zero-missing phenomenon can occur when energizing cable lines with shunt reactors. This may considerably delay the opening of the ci...

  1. Missed opportunities in child healthcare

    Directory of Open Access Journals (Sweden)

    Linda Jonker

    2014-08-01

    Objectives: This article describes the experiences of mothers that utilised comprehensive child health services in the Cape Metropolitan area of South Africa. Services included treatment for diseases; preventative interventions such as immunisation; and promotive interventions, such as improvement in nutrition and promotion of breastfeeding. Method: A qualitative, descriptive phenomenological approach was applied to explore the experiences and perceptions of mothers and/or carers utilising child healthcare services. Thirty percent of the clinics were selected purposively from the total population. A convenience purposive non-probability sampling method was applied to select 17 mothers who met the criteria and gave written consent. Interviews were conducted and recorded digitally using an interview guide. The data analysis was done using Tesch’s eight step model. Results: Findings of the study indicated varied experiences. Not all mothers received information about the Road to Health book or card. According to the mothers, integrated child healthcare services were not practised. The consequences were missed opportunities in immunisation, provision of vitamin A, absence of growth monitoring, feeding assessment and provision of nutritional advice. Conclusion: There is a need for simple interventions such as oral rehydration, early recognition and treatment of diseases, immunisation, growth monitoring and appropriate nutrition advice. These services were not offered diligently. Such interventions could contribute to reducing the incidence of child morbidity and mortality.

  2. [Study of gene mutation in 62 hemophilia A children].

    Science.gov (United States)

    Hu, Q; Liu, A G; Zhang, L Q; Zhang, A; Wang, Y Q; Wang, S M; Lu, Y J; Wang, X

    2017-11-02

    Objective: To analyze the mutation type of FⅧ gene in children with hemophilia A and to explore the relationship among hemophilia gene mutation spectrum, gene mutation and clinical phenotype. Method: Sixty-two children with hemophilia A from Department of Pediatric Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology between January 2015 and March 2017 were enrolled. All patients were male, aged from 4 months to 7 years and F Ⅷ activity ranged 0.2%-11.0%. Fifty cases had severe, 10 cases had moderate and 2 cases had mild hemophilia A. DNA was isolated from peripheral blood in hemophilia A children and the target gene fragment was amplified by PCR, in combination with the second generation sequencing, 22 and 1 introns were detected. Negative cases were detected by the second generation sequencing and results were compared with those of the international FⅧ gene mutation database. Result: There were 20 cases (32%) of intron 22 inversion, 2 cases (3%) of intron 1 inversion, 18 cases (29%) of missense mutation, 5 cases (8%) of nonsense mutation, 7 cases (11%) of deletion mutation, 1 case(2%)of splice site mutation, 2 cases (3%) of large fragment deletion and 1 case of insertion mutation (2%). No mutation was detected in 2 cases (3%), and 4 cases (7%) failed to amplify. The correlation between phenotype and genotype showed that the most common gene mutation in severe hemophilia A was intron 22 inversion (20 cases), accounting for 40% of severe patients, followed by 11 cases of missense mutation (22%). The most common mutation in moderate hemophilia A was missense mutation (6 cases), accounting for 60% of moderate patients. Conclusion: The most frequent mutation type in hemophilia A was intron 22 inversion, followed by missense mutation, again for missing mutation. The relationship between phenotype and genotype: the most frequent gene mutation in severe hemophilia A is intron 22 inversion, followed by missense

  3. Missed opportunities in child healthcare

    Directory of Open Access Journals (Sweden)

    Linda Jonker

    2014-01-01

    Full Text Available Background: Various policies in health, such as Integrated Management of Childhood Illnesses, were introduced to enhance integrated service delivery in child healthcare. During clinical practice the researcher observed that integrated services may not be rendered.Objectives: This article describes the experiences of mothers that utilised comprehensive child health services in the Cape Metropolitan area of South Africa. Services included treatment for diseases; preventative interventions such as immunisation; and promotive interventions, such as improvement in nutrition and promotion of breastfeeding.Method: A qualitative, descriptive phenomenological approach was applied to explore the experiences and perceptions of mothers and/or carers utilising child healthcare services. Thirty percent of the clinics were selected purposively from the total population. A convenience purposive non-probability sampling method was applied to select 17 mothers who met the criteria and gave written consent. Interviews were conducted and recorded digitally using an interview guide. The data analysis was done using Tesch’s eight step model.Results: Findings of the study indicated varied experiences. Not all mothers received information about the Road to Health book or card. According to the mothers, integrated child healthcare services were not practised. The consequences were missed opportunities in immunisation, provision of vitamin A, absence of growth monitoring, feeding assessment and provision of nutritional advice.Conclusion: There is a need for simple interventions such as oral rehydration, early recognition and treatment of diseases, immunisation, growth monitoring and appropriate nutrition advice. These services were not offered diligently. Such interventions could contribute to reducing the incidence of child morbidity and mortality.

  4. Creating Web Sites The Missing Manual

    CERN Document Server

    MacDonald, Matthew

    2006-01-01

    Think you have to be a technical wizard to build a great web site? Think again. For anyone who wants to create an engaging web site--for either personal or business purposes--Creating Web Sites: The Missing Manual demystifies the process and provides tools, techniques, and expert guidance for developing a professional and reliable web presence. Like every Missing Manual, you can count on Creating Web Sites: The Missing Manual to be entertaining and insightful and complete with all the vital information, clear-headed advice, and detailed instructions you need to master the task at hand. Autho

  5. Scalable Tensor Factorizations with Missing Data

    DEFF Research Database (Denmark)

    Acar, Evrim; Dunlavy, Daniel M.; Kolda, Tamara G.

    2010-01-01

    of missing data, many important data sets will be discarded or improperly analyzed. Therefore, we need a robust and scalable approach for factorizing multi-way arrays (i.e., tensors) in the presence of missing data. We focus on one of the most well-known tensor factorizations, CANDECOMP/PARAFAC (CP...... is shown to successfully factor tensors with noise and up to 70% missing data. Moreover, our approach is significantly faster than the leading alternative and scales to larger problems. To show the real-world usefulness of CP-WOPT, we illustrate its applicability on a novel EEG (electroencephalogram...

  6. The prevention and handling of the missing data

    OpenAIRE

    Kang, Hyun

    2013-01-01

    Even in a well-designed and controlled study, missing data occurs in almost all research. Missing data can reduce the statistical power of a study and can produce biased estimates, leading to invalid conclusions. This manuscript reviews the problems and types of missing data, along with the techniques for handling missing data. The mechanisms by which missing data occurs are illustrated, and the methods for handling the missing data are discussed. The paper concludes with recommendations for ...

  7. Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

    Science.gov (United States)

    Steele-Stallard, Heather B; Le Quesne Stabej, Polona; Lenassi, Eva; Luxon, Linda M; Claustres, Mireille; Roux, Anne-Francoise; Webster, Andrew R; Bitner-Glindzicz, Maria

    2013-08-08

    Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of cases. Despite recent sequencing strategies, in our cohort a significant proportion of individuals with Usher type 2 have just one heterozygous disease-causing mutation in USH2A, or no convincing disease-causing mutations across nine Usher genes. The purpose of this study was to improve the molecular diagnosis in these families by screening USH2A for duplications, heterozygous deletions and a common pathogenic deep intronic variant USH2A: c.7595-2144A>G. Forty-nine Usher type 2 or atypical Usher families who had missing mutations (mono-allelic USH2A or no mutations following Sanger sequencing of nine Usher genes) were screened for duplications/deletions using the USH2A SALSA MLPA reagent kit (MRC-Holland). Identification of USH2A: c.7595-2144A>G was achieved by Sanger sequencing. Mutations were confirmed by a combination of reverse transcription PCR using RNA extracted from nasal epithelial cells or fibroblasts, and by array comparative genomic hybridisation with sequencing across the genomic breakpoints. Eight mutations were identified in 23 Usher type 2 families (35%) with one previously identified heterozygous disease-causing mutation in USH2A. These consisted of five heterozygous deletions, one duplication, and two heterozygous instances of the pathogenic variant USH2A: c.7595-2144A>G. No variants were found in the 15 Usher type 2 families with no previously identified disease-causing mutations. In 11 atypical families, none of whom had any previously identified convincing disease-causing mutations, the mutation USH2A: c.7595-2144A>G was identified in a heterozygous state in one family. All five deletions and the heterozygous duplication we report here are novel. This is the first time that a duplication in USH2A has been reported as a cause of Usher syndrome. We found that 8 of

  8. Maternal death and near miss measurement

    African Journals Online (AJOL)

    ABEOLUGBENGAS

    2008-05-26

    May 26, 2008 ... Maternal health services need to be accountable more than ever ... of maternal death and near miss audit, surveillance and review is ..... (d) A fundamental principle of these ..... quality assurance in obstetrics in Nigeria - a.

  9. Clustering with Missing Values: No Imputation Required

    Science.gov (United States)

    Wagstaff, Kiri

    2004-01-01

    Clustering algorithms can identify groups in large data sets, such as star catalogs and hyperspectral images. In general, clustering methods cannot analyze items that have missing data values. Common solutions either fill in the missing values (imputation) or ignore the missing data (marginalization). Imputed values are treated as just as reliable as the truly observed data, but they are only as good as the assumptions used to create them. In contrast, we present a method for encoding partially observed features as a set of supplemental soft constraints and introduce the KSC algorithm, which incorporates constraints into the clustering process. In experiments on artificial data and data from the Sloan Digital Sky Survey, we show that soft constraints are an effective way to enable clustering with missing values.

  10. Missed medical appointment among hypertensive and diabetic ...

    African Journals Online (AJOL)

    Keywords: Missed medical appointments, Hypertensive, Diabetic outpatients, Medication adherence, ... 12 weeks, at 95 % confidence level and 5 % error margin, 300 hypertensive ... monthly income and health insurance status of respondents ...

  11. Missed Radiation Therapy and Cancer Recurrence

    Science.gov (United States)

    Patients who miss radiation therapy sessions during cancer treatment have an increased risk of their disease returning, even if they eventually complete their course of radiation treatment, according to a new study.

  12. Bioinspired Computational Approach to Missing Value Estimation

    Directory of Open Access Journals (Sweden)

    Israel Edem Agbehadji

    2018-01-01

    Full Text Available Missing data occurs when values of variables in a dataset are not stored. Estimating these missing values is a significant step during the data cleansing phase of a big data management approach. The reason of missing data may be due to nonresponse or omitted entries. If these missing data are not handled properly, this may create inaccurate results during data analysis. Although a traditional method such as maximum likelihood method extrapolates missing values, this paper proposes a bioinspired method based on the behavior of birds, specifically the Kestrel bird. This paper describes the behavior and characteristics of the Kestrel bird, a bioinspired approach, in modeling an algorithm to estimate missing values. The proposed algorithm (KSA was compared with WSAMP, Firefly, and BAT algorithm. The results were evaluated using the mean of absolute error (MAE. A statistical test (Wilcoxon signed-rank test and Friedman test was conducted to test the performance of the algorithms. The results of Wilcoxon test indicate that time does not have a significant effect on the performance, and the quality of estimation between the paired algorithms was significant; the results of Friedman test ranked KSA as the best evolutionary algorithm.

  13. SPOP Mutations in Prostate Cancer across Demographically Diverse Patient Cohorts

    Directory of Open Access Journals (Sweden)

    Mirjam Blattner

    2014-01-01

    Full Text Available BACKGROUND: Recurrent mutations in the Speckle-Type POZ Protein (SPOP gene occur in up to 15% of prostate cancers. However, the frequency and features of cancers with these mutations across different populations is unknown. OBJECTIVE: To investigate SPOP mutations across diverse cohorts and validate a series of assays employing high-resolution melting (HRM analysis and Sanger sequencing for mutational analysis of formalin-fixed paraffin-embedded material. DESIGN, SETTING, AND PARTICIPANTS: 720 prostate cancer samples from six international cohorts spanning Caucasian, African American, and Asian patients, including both prostate-specific antigen-screened and unscreened populations, were screened for their SPOP mutation status. Status of SPOP was correlated to molecular features (ERG rearrangement, PTEN deletion, and CHD1 deletion as well as clinical and pathologic features. RESULTS AND LIMITATIONS: Overall frequency of SPOP mutations was 8.1% (4.6% to 14.4%, SPOP mutation was inversely associated with ERG rearrangement (P < .01, and SPOP mutant (SPOPmut cancers had higher rates of CHD1 deletions (P < .01. There were no significant differences in biochemical recurrence in SPOPmut cancers. Limitations of this study include missing mutational data due to sample quality and lack of power to identify a difference in clinical outcomes. CONCLUSION: SPOP is mutated in 4.6% to 14.4% of patients with prostate cancer across different ethnic and demographic backgrounds. There was no significant association between SPOP mutations with ethnicity, clinical, or pathologic parameters. Mutual exclusivity of SPOP mutation with ERG rearrangement as well as a high association with CHD1 deletion reinforces SPOP mutation as defining a distinct molecular subclass of prostate cancer.

  14. MISSE PEACE Polymers Atomic Oxygen Erosion Results

    Science.gov (United States)

    deGroh, Kim, K.; Banks, Bruce A.; McCarthy, Catherine E.; Rucker, Rochelle N.; Roberts, Lily M.; Berger, Lauren A.

    2006-01-01

    Forty-one different polymer samples, collectively called the Polymer Erosion and Contamination Experiment (PEACE) Polymers, have been exposed to the low Earth orbit (LEO) environment on the exterior of the International Space Station (ISS) for nearly 4 years as part of Materials International Space Station Experiment 2 (MISSE 2). The objective of the PEACE Polymers experiment was to determine the atomic oxygen erosion yield of a wide variety of polymeric materials after long term exposure to the space environment. The polymers range from those commonly used for spacecraft applications, such as Teflon (DuPont) FEP, to more recently developed polymers, such as high temperature polyimide PMR (polymerization of monomer reactants). Additional polymers were included to explore erosion yield dependence upon chemical composition. The MISSE PEACE Polymers experiment was flown in MISSE Passive Experiment Carrier 2 (PEC 2), tray 1, on the exterior of the ISS Quest Airlock and was exposed to atomic oxygen along with solar and charged particle radiation. MISSE 2 was successfully retrieved during a space walk on July 30, 2005, during Discovery s STS-114 Return to Flight mission. Details on the specific polymers flown, flight sample fabrication, pre-flight and post-flight characterization techniques, and atomic oxygen fluence calculations are discussed along with a summary of the atomic oxygen erosion yield results. The MISSE 2 PEACE Polymers experiment is unique because it has the widest variety of polymers flown in LEO for a long duration and provides extremely valuable erosion yield data for spacecraft design purposes.

  15. Breast carcinomas: why are they missed?

    Science.gov (United States)

    Muttarak, M; Pojchamarnwiputh, S; Chaiwun, B

    2006-10-01

    Mammography has proven to be an effective modality for the detection of early breast carcinoma. However, 4-34 percent of breast cancers may be missed at mammography. Delayed diagnosis of breast carcinoma results in an unfavourable prognosis. The objective of this study was to determine the causes and characteristics of breast carcinomas missed by mammography at our institution, with the aim of reducing the rate of missed carcinoma. We reviewed the reports of 13,191 mammograms performed over a five-year period. Breast Imaging Reporting and Data Systems (BI-RADS) were used for the mammographical assessment, and reports were cross-referenced with the histological diagnosis of breast carcinoma. Causes of missed carcinomas were classified. Of 344 patients who had breast carcinoma and had mammograms done prior to surgery, 18 (5.2 percent) failed to be diagnosed by mammography. Of these, five were caused by dense breast parenchyma obscuring the lesions, 11 were due to perception and interpretation errors, and one each from unusual lesion characteristics and poor positioning. Several factors, including dense breast parenchyma obscuring a lesion, perception error, interpretation error, unusual lesion characteristics, and poor technique or positioning, are possible causes of missed breast cancers.

  16. Substituting missing data in compositional analysis

    Energy Technology Data Exchange (ETDEWEB)

    Real, Carlos, E-mail: carlos.real@usc.es [Area de Ecologia, Departamento de Biologia Celular y Ecologia, Escuela Politecnica Superior, Universidad de Santiago de Compostela, 27002 Lugo (Spain); Angel Fernandez, J.; Aboal, Jesus R.; Carballeira, Alejo [Area de Ecologia, Departamento de Biologia Celular y Ecologia, Facultad de Biologia, Universidad de Santiago de Compostela, 15782 Santiago de Compostela (Spain)

    2011-10-15

    Multivariate analysis of environmental data sets requires the absence of missing values or their substitution by small values. However, if the data is transformed logarithmically prior to the analysis, this solution cannot be applied because the logarithm of a small value might become an outlier. Several methods for substituting the missing values can be found in the literature although none of them guarantees that no distortion of the structure of the data set is produced. We propose a method for the assessment of these distortions which can be used for deciding whether to retain or not the samples or variables containing missing values and for the investigation of the performance of different substitution techniques. The method analyzes the structure of the distances among samples using Mantel tests. We present an application of the method to PCDD/F data measured in samples of terrestrial moss as part of a biomonitoring study. - Highlights: > Missing values in multivariate data sets must be substituted prior to analysis. > The substituted values can modify the structure of the data set. > We developed a method to estimate the magnitude of the alterations. > The method is simple and based on the Mantel test. > The method allowed the identification of problematic variables in a sample data set. - A method is presented for the assessment of the possible distortions in multivariate analysis caused by the substitution of missing values.

  17. Substituting missing data in compositional analysis

    International Nuclear Information System (INIS)

    Real, Carlos; Angel Fernandez, J.; Aboal, Jesus R.; Carballeira, Alejo

    2011-01-01

    Multivariate analysis of environmental data sets requires the absence of missing values or their substitution by small values. However, if the data is transformed logarithmically prior to the analysis, this solution cannot be applied because the logarithm of a small value might become an outlier. Several methods for substituting the missing values can be found in the literature although none of them guarantees that no distortion of the structure of the data set is produced. We propose a method for the assessment of these distortions which can be used for deciding whether to retain or not the samples or variables containing missing values and for the investigation of the performance of different substitution techniques. The method analyzes the structure of the distances among samples using Mantel tests. We present an application of the method to PCDD/F data measured in samples of terrestrial moss as part of a biomonitoring study. - Highlights: → Missing values in multivariate data sets must be substituted prior to analysis. → The substituted values can modify the structure of the data set. → We developed a method to estimate the magnitude of the alterations. → The method is simple and based on the Mantel test. → The method allowed the identification of problematic variables in a sample data set. - A method is presented for the assessment of the possible distortions in multivariate analysis caused by the substitution of missing values.

  18. ALS-associated mutation SOD1G93A leads to abnormal mitochondrial dynamics in osteocytes.

    Science.gov (United States)

    Wang, Huan; Yi, Jianxun; Li, Xuejun; Xiao, Yajuan; Dhakal, Kamal; Zhou, Jingsong

    2018-01-01

    While the death of motor neuron is a pathological hallmark of amyotrophic lateral sclerosis (ALS), defects in other cell types or organs may also actively contribute to ALS disease progression. ALS patients experience progressive skeletal muscle wasting that may not only exacerbate neuronal degeneration, but likely has a significant impact on bone function. In our previous published study, we have discovered severe bone loss in an ALS mouse model with overexpression of ALS-associated mutation SOD1 G93A (G93A). Here we further provide a mechanistic understanding of the bone loss in ALS animal and cellular models. Combining mitochondrial fluorescent indicators and confocal live cell imaging, we discovered abnormalities in mitochondrial network and dynamics in primary osteocytes derived from the same ALS mouse model G93A. Those mitochondrial defects occur in ALS mice after the onset of neuromuscular symptoms, indicating that mitochondria in bone cells respond to muscle atrophy during ALS disease progression. To examine whether ALS mutation has a direct contribution to mitochondrial dysfunction independent of muscle atrophy, we evaluated mitochondrial morphology and motility in cultured osteocytes (MLO-Y4) with overexpression of mitochondrial targeted SOD1 G93A . Compared with osteocytes overexpressing the wild type SOD1 as a control, the SOD1 G93A osteocytes showed similar defects in mitochondrial network and dynamic as that of the primary osteocytes derived from the ALS mouse model. In addition, we further discovered that overexpression of SOD1 G93A enhanced the expression level of dynamin-related protein 1 (Drp1), a key protein promoting mitochondrial fission activity, and reduced the expression level of optic atrophy protein 1 (OPA1), a key protein related to mitochondrial fusion. A specific mitochondrial fission inhibitor (Mdivi-1) partially reversed the effect of SOD1 G93A on mitochondrial network and dynamics, indicating that SOD1 G93A likely promotes

  19. RADIA: RNA and DNA integrated analysis for somatic mutation detection.

    Directory of Open Access Journals (Sweden)

    Amie J Radenbaugh

    Full Text Available The detection of somatic single nucleotide variants is a crucial component to the characterization of the cancer genome. Mutation calling algorithms thus far have focused on comparing the normal and tumor genomes from the same individual. In recent years, it has become routine for projects like The Cancer Genome Atlas (TCGA to also sequence the tumor RNA. Here we present RADIA (RNA and DNA Integrated Analysis, a novel computational method combining the patient-matched normal and tumor DNA with the tumor RNA to detect somatic mutations. The inclusion of the RNA increases the power to detect somatic mutations, especially at low DNA allelic frequencies. By integrating an individual's DNA and RNA, we are able to detect mutations that would otherwise be missed by traditional algorithms that examine only the DNA. We demonstrate high sensitivity (84% and very high precision (98% and 99% for RADIA in patient data from endometrial carcinoma and lung adenocarcinoma from TCGA. Mutations with both high DNA and RNA read support have the highest validation rate of over 99%. We also introduce a simulation package that spikes in artificial mutations to patient data, rather than simulating sequencing data from a reference genome. We evaluate sensitivity on the simulation data and demonstrate our ability to rescue back mutations at low DNA allelic frequencies by including the RNA. Finally, we highlight mutations in important cancer genes that were rescued due to the incorporation of the RNA.

  20. Missing data imputation: focusing on single imputation.

    Science.gov (United States)

    Zhang, Zhongheng

    2016-01-01

    Complete case analysis is widely used for handling missing data, and it is the default method in many statistical packages. However, this method may introduce bias and some useful information will be omitted from analysis. Therefore, many imputation methods are developed to make gap end. The present article focuses on single imputation. Imputations with mean, median and mode are simple but, like complete case analysis, can introduce bias on mean and deviation. Furthermore, they ignore relationship with other variables. Regression imputation can preserve relationship between missing values and other variables. There are many sophisticated methods exist to handle missing values in longitudinal data. This article focuses primarily on how to implement R code to perform single imputation, while avoiding complex mathematical calculations.

  1. Time Series Forecasting with Missing Values

    Directory of Open Access Journals (Sweden)

    Shin-Fu Wu

    2015-11-01

    Full Text Available Time series prediction has become more popular in various kinds of applications such as weather prediction, control engineering, financial analysis, industrial monitoring, etc. To deal with real-world problems, we are often faced with missing values in the data due to sensor malfunctions or human errors. Traditionally, the missing values are simply omitted or replaced by means of imputation methods. However, omitting those missing values may cause temporal discontinuity. Imputation methods, on the other hand, may alter the original time series. In this study, we propose a novel forecasting method based on least squares support vector machine (LSSVM. We employ the input patterns with the temporal information which is defined as local time index (LTI. Time series data as well as local time indexes are fed to LSSVM for doing forecasting without imputation. We compare the forecasting performance of our method with other imputation methods. Experimental results show that the proposed method is promising and is worth further investigations.

  2. Collateral missing value imputation: a new robust missing value estimation algorithm for microarray data.

    Science.gov (United States)

    Sehgal, Muhammad Shoaib B; Gondal, Iqbal; Dooley, Laurence S

    2005-05-15

    Microarray data are used in a range of application areas in biology, although often it contains considerable numbers of missing values. These missing values can significantly affect subsequent statistical analysis and machine learning algorithms so there is a strong motivation to estimate these values as accurately as possible before using these algorithms. While many imputation algorithms have been proposed, more robust techniques need to be developed so that further analysis of biological data can be accurately undertaken. In this paper, an innovative missing value imputation algorithm called collateral missing value estimation (CMVE) is presented which uses multiple covariance-based imputation matrices for the final prediction of missing values. The matrices are computed and optimized using least square regression and linear programming methods. The new CMVE algorithm has been compared with existing estimation techniques including Bayesian principal component analysis imputation (BPCA), least square impute (LSImpute) and K-nearest neighbour (KNN). All these methods were rigorously tested to estimate missing values in three separate non-time series (ovarian cancer based) and one time series (yeast sporulation) dataset. Each method was quantitatively analyzed using the normalized root mean square (NRMS) error measure, covering a wide range of randomly introduced missing value probabilities from 0.01 to 0.2. Experiments were also undertaken on the yeast dataset, which comprised 1.7% actual missing values, to test the hypothesis that CMVE performed better not only for randomly occurring but also for a real distribution of missing values. The results confirmed that CMVE consistently demonstrated superior and robust estimation capability of missing values compared with other methods for both series types of data, for the same order of computational complexity. A concise theoretical framework has also been formulated to validate the improved performance of the CMVE

  3. Deletion mutations of bacteriophage

    International Nuclear Information System (INIS)

    Ryo, Yeikou

    1975-01-01

    Resolution of mutation mechanism with structural changes of DNA was discussed through the studies using bacteriophage lambda. One of deletion mutations inductions of phage lambda is the irradiation of ultraviolet ray. It is not clear if the inductions are caused by errors in reparation of ultraviolet-induced damage or by the activation of int gene. Because the effective site of int gene lies within the regions unnecessary for existing, it is considered that int gene is connected to deletion mutations induction. A certain system using prophage complementarity enables to detect deletion mutations at essential hereditary sites and to solve the relations of deletion mutations with other recombination system, DNA reproduction and repairment system. Duplication and multiplication of hereditary elements were discussed. If lambda deletion mutations of the system, which can control recombination, reproduction and repairment of added DNA, are constructed, mutations mechanism with great changes of DNA structure can be solved by phage lambda. (Ichikawa, K.)

  4. Missing Strands? Dealing with Hair Loss

    Science.gov (United States)

    ... 2017 Print this issue Missing Strands? Dealing with Hair Loss En español Send us your comments Hair loss is often associated with men and aging, but ... or their treatments, and many other things cause hair loss. The most common type of hair loss is ...

  5. On testing the missing at random assumption

    DEFF Research Database (Denmark)

    Jaeger, Manfred

    2006-01-01

    Most approaches to learning from incomplete data are based on the assumption that unobserved values are missing at random (mar). While the mar assumption, as such, is not testable, it can become testable in the context of other distributional assumptions, e.g. the naive Bayes assumption...

  6. Missing mass from low-luminosity stars

    International Nuclear Information System (INIS)

    Hawkins, M.R.S.

    1986-01-01

    Results from a deep photometric survey for low-luminosity stars show a turnup to the luminosity function at faint magnitudes, and reopen the possibility that the missing mass in the solar neighbourhood is made up of stars after all. (author)

  7. Dealing with gene expression missing data.

    Science.gov (United States)

    Brás, L P; Menezes, J C

    2006-05-01

    Compared evaluation of different methods is presented for estimating missing values in microarray data: weighted K-nearest neighbours imputation (KNNimpute), regression-based methods such as local least squares imputation (LLSimpute) and partial least squares imputation (PLSimpute) and Bayesian principal component analysis (BPCA). The influence in prediction accuracy of some factors, such as methods' parameters, type of data relationships used in the estimation process (i.e. row-wise, column-wise or both), missing rate and pattern and type of experiment [time series (TS), non-time series (NTS) or mixed (MIX) experiments] is elucidated. Improvements based on the iterative use of data (iterative LLS and PLS imputation--ILLSimpute and IPLSimpute), the need to perform initial imputations (modified PLS and Helland PLS imputation--MPLSimpute and HPLSimpute) and the type of relationships employed (KNNarray, LLSarray, HPLSarray and alternating PLS--APLSimpute) are proposed. Overall, it is shown that data set properties (type of experiment, missing rate and pattern) affect the data similarity structure, therefore influencing the methods' performance. LLSimpute and ILLSimpute are preferable in the presence of data with a stronger similarity structure (TS and MIX experiments), whereas PLS-based methods (MPLSimpute, IPLSimpute and APLSimpute) are preferable when estimating NTS missing data.

  8. Missed opportunities and inappropriately given vaccines reduce ...

    African Journals Online (AJOL)

    Objectives: To quantify missed opportunities for immunisation, document reasons for their occurrence and evaluate the extent of inappropriately given vaccine doses. Design: A cross sectional study of children under two years of age attending health facilities. Setting: Six health facilities predominantly serving the slums of ...

  9. Determinants Of Missed Opportunities For Immunization Among ...

    African Journals Online (AJOL)

    Factors responsible for the missed opportunities included the attitude of the health worker, prolonged time of waiting to receive vaccine, immunization clashing with other schedules and transportation problem. Respondents' level ofknowledge on immunization and educational background were significantly associated with ...

  10. All hypertopologies are hit-and-miss

    Directory of Open Access Journals (Sweden)

    Somshekhar Naimpally

    2002-04-01

    Full Text Available We solve a long standing problem by showing that all known hypertopologies are hit-and-miss. Our solution is not merely of theoretical importance. This representation is useful in the study of comparison of the Hausdorff-Bourbaki or H-B uniform topologies and the Wijsman topologies among themselves and with others. Up to now some of these comparisons needed intricate manipulations. The H-B uniform topologies were the subject of intense activity in the 1960's in connection with the Isbell-Smith problem. We show that they are proximally locally finite topologies from which the solution to the above problem follows easily. It is known that the Wijsman topology on the hyperspace is the proximal ball (hit-and-miss topology in”nice” metric spaces including the normed linear spaces. With the introduction of a new far-miss topology we show that the Wijsman topology is hit-and-miss for all metric spaces. From this follows a natural generalization of the Wijsman topology to the hyperspace of any T1 space. Several existing results in the literature are easy consequences of our work.

  11. Flash CS4: The Missing Manual

    CERN Document Server

    Grover, Chris

    2008-01-01

    Unlock the power of Flash and bring gorgeous animations to life onscreen. Flash CS4: The Missing Manual includes a complete primer on animation, a guided tour of the program's tools and capabilities, lots of new illustrations, and more details on working with video. Beginners will learn to use the software in no time, and experienced Flash designers will improve their skills.

  12. What's Missing? Anti-Racist Sex Education!

    Science.gov (United States)

    Whitten, Amanda; Sethna, Christabelle

    2014-01-01

    Contemporary sexual health curricula in Canada include information about sexual diversity and queer identities, but what remains missing is any explicit discussion of anti-racist sex education. Although there exists federal and provincial support for multiculturalism and anti-racism in schools, contemporary Canadian sex education omits crucial…

  13. How efficient is estimation with missing data?

    DEFF Research Database (Denmark)

    Karadogan, Seliz; Marchegiani, Letizia; Hansen, Lars Kai

    2011-01-01

    percentages (MDP) using a missing completely at random (MCAR) scheme. We compare three MDTs: pairwise deletion (PW), mean imputation (MI) and a maximum likelihood method that we call complete expectation maximization (CEM). We use a synthetic dataset, the Iris dataset and the Pima Indians Diabetes dataset. We...

  14. Generalized canonical correlation analysis with missing values

    NARCIS (Netherlands)

    M. van de Velden (Michel); Y. Takane

    2009-01-01

    textabstractTwo new methods for dealing with missing values in generalized canonical correlation analysis are introduced. The first approach, which does not require iterations, is a generalization of the Test Equating method available for principal component analysis. In the second approach,

  15. Missed Distal Tracheal Foreign Body in Consecutive ...

    African Journals Online (AJOL)

    2017-05-18

    May 18, 2017 ... Since invention, bronchoscopy has become the gold standard in the diagnosis and extraction of airway FB.[4]. Foreign bodies may be missed at ... Since the discovery by Gustav Killian,[9] extraction of tracheobronchial FB has been accomplished with rigid bronchoscopy which is still considered as the gold.

  16. Missed isolated volar dislocation of the scaphoid

    DEFF Research Database (Denmark)

    Kolby, Lise; Larsen, Søren; Jørring, Stig

    2007-01-01

    A patient presented with volar dislocation of the scaphoid, the diagnosis of which had been missed for two weeks. He was treated with open reduction through a combined volar and dorsal approach with decompression of the median nerve, internal fixation, and a cast for eight weeks. One year postope...... postoperatively the functional result was good. A radiograph showed no sign of avascular necrosis....

  17. Missed opportunities for immunisation at Kasungu

    African Journals Online (AJOL)

    work. Some outreach and static clinics still concen- trate their EPI activities on infants and children and largely ignore the mothers who accompany them. Health workers ... sungu District Hospital (KDH) were surveyed. Six. Health Centres ... Table 2 Missed Dpponunities for Immunisation ofEPI Tat'get Gt'Oups at Kmungu ...

  18. Missed retinal breaks in rhegmatogenous retinal detachment

    Directory of Open Access Journals (Sweden)

    Brijesh Takkar

    2016-12-01

    Full Text Available AIM: To evaluate the causes and associations of missed retinal breaks (MRBs and posterior vitreous detachment (PVD in patients with rhegmatogenous retinal detachment (RRD. METHODS: Case sheets of patients undergoing vitreo retinal surgery for RRD at a tertiary eye care centre were evaluated retrospectively. Out of the 378 records screened, 253 were included for analysis of MRBs and 191 patients were included for analysis of PVD, depending on the inclusion criteria. Features of RRD and retinal breaks noted on examination were compared to the status of MRBs and PVD detected during surgery for possible associations. RESULTS: Overall, 27% patients had MRBs. Retinal holes were commonly missed in patients with lattice degeneration while missed retinal tears were associated with presence of complete PVD. Patients operated for cataract surgery were significantly associated with MRBs (P=0.033 with the odds of missing a retinal break being 1.91 as compared to patients with natural lens. Advanced proliferative vitreo retinopathy (PVR and retinal bullae were the most common reasons for missing a retinal break during examination. PVD was present in 52% of the cases and was wrongly assessed in 16%. Retinal bullae, pseudophakia/aphakia, myopia, and horse shoe retinal tears were strongly associated with presence of PVD. Traumatic RRDs were rarely associated with PVD. CONCLUSION: Pseudophakic patients, and patients with retinal bullae or advanced PVR should be carefully screened for MRBs. Though Weiss ring is a good indicator of PVD, it may still be over diagnosed in some cases. PVD is associated with retinal bullae and pseudophakia, and inversely with traumatic RRD.

  19. The combined effect of two mutations that alter serially homologous color pattern elements on the fore and hindwings of a butterfly

    Directory of Open Access Journals (Sweden)

    Vedder Lindsey

    2007-05-01

    Full Text Available Abstract Background The ability for serially homologous structures to acquire a separate identity has been primarily investigated for structures dependent on Hox gene input but is still incompletely understood in other systems. The fore and hindwings of butterflies are serially homologous structures as are the serially homologous eyespots that can decorate each of these wings. Eyespots can vary in number between fore and hindwings of the same individual and mutations of large effect can control the total number of eyespots that each of the wings displays. Here we investigate the genetics of a new spontaneous color pattern mutation, Missing, that alters eyespot number in the nymphalid butterfly, Bicyclus anynana. We further test the interaction of Missing with a previously described mutation, Spotty, describe the developmental stage affected by Missing, and test whether Missing is a mutant variant of the gene Distal-less via a linkage association study. Results Missing removes or greatly reduces the size of two of the hindwing eyespots from the row of seven eyespots, with no detectable effect on the rest of the wing pattern. Offspring carrying a single Missing allele display intermediate sized eyespots at these positions. Spotty has the opposite effect of Missing, i.e., it introduces two extra eyespots in homologous wing positions to those affected by Missing, but on the forewing. When Missing is combined with Spotty the size of the two forewing eyespots decreases but the size of the hindwing spots stays the same, suggesting that these two mutations have a combined effect on the forewing such that Missing reduces eyespot size when in the presence of a Spotty mutant allele, but that Spotty has no effect on the hindwing. Missing prevents the complete differentiation of two of the eyespot foci on the hindwing. We found no evidence for any linkage between the Distal-less and Missing genes. Conclusion The spontaneous mutation Missing controls the

  20. Incomplete Early Childhood Immunization Series and Missing Fourth DTaP Immunizations; Missed Opportunities or Missed Visits?

    Science.gov (United States)

    Robison, Steve G

    2013-01-01

    The successful completion of early childhood immunizations is a proxy for overall quality of early care. Immunization statuses are usually assessed by up-to-date (UTD) rates covering combined series of different immunizations. However, series UTD rates often only bear on which single immunization is missing, rather than the success of all immunizations. In the US, most series UTD rates are limited by missing fourth DTaP-containing immunizations (diphtheria/tetanus/pertussis) due at 15 to 18 months of age. Missing 4th DTaP immunizations are associated either with a lack of visits at 15 to 18 months of age, or to visits without immunizations. Typical immunization data however cannot distinguish between these two reasons. This study compared immunization records from the Oregon ALERT IIS with medical encounter records for two-year olds in the Oregon Health Plan. Among those with 3 valid DTaPs by 9 months of age, 31.6% failed to receive a timely 4th DTaP; of those without a 4th DTaP, 42.1% did not have any provider visits from 15 through 18 months of age, while 57.9% had at least one provider visit. Those with a 4th DTaP averaged 2.45 encounters, while those with encounters but without 4th DTaPs averaged 2.23 encounters.

  1. Better plants through mutations

    International Nuclear Information System (INIS)

    1988-01-01

    This is a public relations film describing problems associated with the genetic improvement of crop plants through induced mutations. Mutations are the ultimate source of genetic variation in plants. Mutation induction is now established as a practical tool in plant breeding. The Joint FAO/IAEA Division and the IAEA's laboratory at Seibersdorf have supported research and practical implementation of mutation breeding of both seed propagated and vegetatively propagated plants. Plant biotechnology based on in vitro culture and recombinant DNA technology will make a further significant contribution to plant breeding

  2. Slp-76 is a critical determinant of NK cell-mediated recognition of missing-self targets

    Science.gov (United States)

    Lampe, Kristin; Endale, Mehari; Cashman, Siobhan; Fang, Hao; Mattner, Jochen; Hildeman, David; Hoebe, Kasper

    2015-01-01

    Absence of MHC class I expression is an important mechanism by which NK cells recognize a variety of target cells, yet the pathways underlying “missing-self” recognition, including the involvement of activating receptors, remain poorly understood. Using ENU mutagenesis in mice, we identified a germline mutant, designated Ace, with a marked defect in NK cell-mediated recognition and elimination of “missing-self” targets. The causative mutation was linked to chromosome 11 and identified as a missense mutation [Thr428Ile] in the SH2 domain of Slp-76—a critical adapter molecule downstream of ITAM-containing surface receptors. The Slp-76 Ace mutation behaved as a hypomorphic allele—while no major defects were observed in conventional T cell development/function, a marked defect in NK cell-mediated elimination of β2-Microglobulin (β2M)-deficient target cells was observed. Further studies revealed Slp-76 to control NK cell receptor expression and maturation, however, activation of Slp-76ace/ace NK cells through ITAM-containing NK cell receptors or allogeneic/tumor target cells appeared largely unaffected. Imagestream analysis of the NK-β2M−/− target cell synapse, revealed a specific defect in actin recruitment to the conjugate synapse in Slp-76ace/ace NK cells. Overall these studies establish Slp-76 as a critical determinant of NK cell development and NK cell-mediated elimination of missing-self target cells. PMID:25929249

  3. Congenitally missing mandibular second premolars: clinical options.

    Science.gov (United States)

    Kokich, Vincent G; Kokich, Vincent O

    2006-10-01

    Congenital absence of mandibular second premolars affects many orthodontic patients. The orthodontist must make the proper decision at the appropriate time regarding management of the edentulous space. These spaces can be closed or left open. If the space will be left open for an eventual restoration, the keys during orthodontic treatment are to create the correct amount of space and to leave the alveolar ridge in an ideal condition for a future restoration. If the space will be closed, the clinician must avoid any detrimental alterations to the occlusion and the facial profile. Some early decisions that the orthodontist makes for a patient whose mandibular second premolars are congenitally missing will affect his or her dental health for a lifetime. Therefore, the correct decision must be made at the appropriate time. In this article, we present and discuss various treatment alternatives for managing orthodontic patients with at least 1 congenitally missing mandibular second premolar.

  4. The case of the missing third.

    Science.gov (United States)

    Robertson, Robin

    2005-01-01

    How is it that form arises out of chaos? In attempting to deal with this primary question, time and again a "Missing Third" is posited that lies between extremes. The problem of the "Missing Third" can be traced through nearly the entire history of thought. The form it takes, the problems that arise from it, the solutions suggested for resolving it, are each representative of an age. This paper traces the issue from Plato and Parmenides in the 4th--5th centuries, B.C.; to Neoplatonism in the 3rd--5th centuries; to Locke and Descartes in the 17th century; on to Berkeley and Kant in the 18th century; Fechner and Wundt in the 19th century; to behaviorism and Gestalt psychology, Jung, early in the 20th century, ethology and cybernetics later in the 20th century, then culminates late in the 20th century, with chaos theory.

  5. iLife '05 The Missing Manual

    CERN Document Server

    Pogue, David

    2005-01-01

    The incomparable iLife '05 is the must-have multimedia suite for everyone who owns a Mac--and the envy of everyone who doesn't. iLife '05: The Missing Manual is the definitive iLife '05 book--and what should have come with the suite. There's no better guide to your iLife experience than the #1 bestselling Macintosh author and expert--and Missing Manual series creator--David Pogue. Totally objective and utterly in-the-know, Pogue highlights the newest features, changes, and improvements of iLife '05, covers the capabilities and limitations of each program within the suite, and delivers count

  6. Absence of missing mass in clusters

    Energy Technology Data Exchange (ETDEWEB)

    Fesenko, B.I.

    1981-01-01

    The evaluation of the radial-velocity dispersion in clusters of galaxies is considered by using order statistics to reduce the distortions introduced by foreground and background galaxies and by large errors in velocity measurement. For four nearby clusters of galaxies, including the Coma cluster, velocity dispersions are obtained which are approximately four times lower than previously reported values. It is found that more remote galaxies exhibit the same tendency to a reduction in missing mass. A detailed examination of the statistical properties of galaxies in the Virgo cluster reveals that the cluster might not actually exist, but may be just a large excess in the number density of bright galaxies, possibly the result of an increase in the visibility of objects in the appropriate directions. It is concluded that the presence of a large amount of missing mass in clusters of galaxies is yet to be proven.

  7. MOLDOVA: MISSED ADVANTAGES OF EURASIAN INTEGRATION

    Directory of Open Access Journals (Sweden)

    Ludmila Vasiljevna Fokina

    2015-01-01

    Full Text Available The article is devoted to potentially missed advantages of Eurasian integration (EAEU for Moldova. Special attention is given to the branches in which the country could get evident advantages including agriculture, power engineering, external trade ties with the EAEU countries. Possible positive effects of Eurasian integration in solution of the Transnistrian problem, in the sphere of labour migration and other fields are also shown.

  8. Photoshop Elements 6 The Missing Manual

    CERN Document Server

    Brundage, Barbara

    2009-01-01

    With Photoshop Elements 6, the most popular photo-editing program on Earth just keeps getting better. It's perfect for scrapbooking, email-ready slideshows, Web galleries, you name it. But knowing what to do and when is tricky. That's why our Missing Manual is the bestselling book on the topic. This fully revised guide explains not only how the tools and commands work, but when to use them.

  9. Missing level corrections using neutron spacings

    International Nuclear Information System (INIS)

    Mitchell, G.E.; Shriner, J.F. Jr.

    2009-11-01

    Nuclear level densities are very important for a wide variety of pure and applied neutron physics. Most of the relevant information is obtained from neutron resonance data. The key correction to the raw experimental data is for missing levels. All of the standard correction methods assume that the neutron resonances obey the predictions of the Gaussian Orthogonal Ensemble version of Random Matrix Theory (RMT) and utilize comparison with the Porter-Thomas distribution of reduced widths in order to determine the fraction of missing levels. Here we adopt an alternate approach, comparing the neutron data with the predictions of RMT for eigenvalue statistics. Since in RMT the widths and eigenvalues are independent, analysis of the eigenvalues provides an independent analysis of the same data set. We summarize recent work in this area using the nearest neighbour spacing distribution, and we also develop tests that utilize several other eigenvalue statistics to provide additional estimates of the missing fraction of levels. These additional statistics include the key test for long range order - the Dyson-Mehta Δ 3 statistic - as well as the thermodynamic energy (that arises from Dyson's Circular Orthogonal Ensemble), the linear correlation coefficient of adjacent spacings (a measure of short range anti-correlation), and a statistic related to the Q statistic defined by Dyson and Mehta in the early 1960s. Developed FORTRAN code is available at http://www-nds.iaea.org/missing-levels/. These tests are applied to the s-wave neutron resonances in n + 238 U and n + 232 Th. The results for 238 U are consistent with each other and raise some issues concerning data purity. For the 232 Th data, all of the tests are in excellent agreement. (author)

  10. iWork '09 The Missing Manual

    CERN Document Server

    Clark, Josh

    2009-01-01

    With iWork '09: The Missing Manual, you'll quickly learn everything you need to know about Apple's incredible productivity programs, including the Pages word-processor, the Numbers spreadsheet, and the Keynote presentation program that Al Gore and Steve Jobs made famous. This book gives you crystal-clear and jargon-free explanations of iWork's capabilities, advantages, and limitations to help you produce stunning documents and cinema-quality digital presentations in no time.

  11. Uncovering missing links with cold ends

    Science.gov (United States)

    Zhu, Yu-Xiao; Lü, Linyuan; Zhang, Qian-Ming; Zhou, Tao

    2012-11-01

    To evaluate the performance of prediction of missing links, the known data are randomly divided into two parts, the training set and the probe set. We argue that this straightforward and standard method may lead to terrible bias, since in real biological and information networks, missing links are more likely to be links connecting low-degree nodes. We therefore study how to uncover missing links with low-degree nodes, namely links in the probe set are of lower degree products than a random sampling. Experimental analysis on ten local similarity indices and four disparate real networks reveals a surprising result that the Leicht-Holme-Newman index [E.A. Leicht, P. Holme, M.E.J. Newman, Vertex similarity in networks, Phys. Rev. E 73 (2006) 026120] performs the best, although it was known to be one of the worst indices if the probe set is a random sampling of all links. We further propose an parameter-dependent index, which considerably improves the prediction accuracy. Finally, we show the relevance of the proposed index to three real sampling methods: acquaintance sampling, random-walk sampling and path-based sampling.

  12. MISSE 6 Polymer Film Tensile Experiment

    Science.gov (United States)

    Miller, Sharon K. R.; Dever, Joyce A.; Banks, Bruce A.; Waters, Deborah L.; Sechkar, Edward; Kline, Sara

    2010-01-01

    The Polymer Film Tensile Experiment (PFTE) was flown as part of Materials International Space Station Experiment 6 (MISSE 6). The purpose of the experiment was to expose a variety of polymer films to the low Earth orbital environment under both relaxed and tension conditions. The polymers selected are those commonly used for spacecraft thermal control and those under consideration for use in spacecraft applications such as sunshields, solar sails, and inflatable and deployable structures. The dog-bone shaped samples of polymers that were flown were exposed on both the side of the MISSE 6 Passive Experiment Container (PEC) that was facing into the ram direction (receiving atomic oxygen, ultraviolet (UV) radiation, ionizing radiation, and thermal cycling) and the wake facing side (which was supposed to have experienced predominantly the same environmental effects except for atomic oxygen which was present due to reorientation of the International Space Station). A few of the tensile samples were coated with vapor deposited aluminum on the back and wired to determine the point in the flight when the tensile sample broke as recorded by a change in voltage that was stored on battery powered data loggers for post flight retrieval and analysis. The data returned on the data loggers was not usable. However, post retrieval observation and analysis of the samples was performed. This paper describes the preliminary analysis and observations of the polymers exposed on the MISSE 6 PFTE.

  13. Planned Missing Data Designs in Educational Psychology Research

    NARCIS (Netherlands)

    Rhemtulla, M.; Hancock, G.R.

    2016-01-01

    Although missing data are often viewed as a challenge for applied researchers, in fact missing data can be highly beneficial. Specifically, when the amount of missing data on specific variables is carefully controlled, a balance can be struck between statistical power and research costs. This

  14. Missing value imputation for epistatic MAPs

    LENUS (Irish Health Repository)

    Ryan, Colm

    2010-04-20

    Abstract Background Epistatic miniarray profiling (E-MAPs) is a high-throughput approach capable of quantifying aggravating or alleviating genetic interactions between gene pairs. The datasets resulting from E-MAP experiments typically take the form of a symmetric pairwise matrix of interaction scores. These datasets have a significant number of missing values - up to 35% - that can reduce the effectiveness of some data analysis techniques and prevent the use of others. An effective method for imputing interactions would therefore increase the types of possible analysis, as well as increase the potential to identify novel functional interactions between gene pairs. Several methods have been developed to handle missing values in microarray data, but it is unclear how applicable these methods are to E-MAP data because of their pairwise nature and the significantly larger number of missing values. Here we evaluate four alternative imputation strategies, three local (Nearest neighbor-based) and one global (PCA-based), that have been modified to work with symmetric pairwise data. Results We identify different categories for the missing data based on their underlying cause, and show that values from the largest category can be imputed effectively. We compare local and global imputation approaches across a variety of distinct E-MAP datasets, showing that both are competitive and preferable to filling in with zeros. In addition we show that these methods are effective in an E-MAP from a different species, suggesting that pairwise imputation techniques will be increasingly useful as analogous epistasis mapping techniques are developed in different species. We show that strongly alleviating interactions are significantly more difficult to predict than strongly aggravating interactions. Finally we show that imputed interactions, generated using nearest neighbor methods, are enriched for annotations in the same manner as measured interactions. Therefore our method potentially

  15. Mutation and premating isolation

    Science.gov (United States)

    Woodruff, R. C.; Thompson, J. N. Jr

    2002-01-01

    While premating isolation might be traceable to different genetic mechanisms in different species, evidence supports the idea that as few as one or two genes may often be sufficient to initiate isolation. Thus, new mutation can theoretically play a key role in the process. But it has long been thought that a new isolation mutation would fail, because there would be no other individuals for the isolation-mutation-carrier to mate with. We now realize that premeiotic mutations are very common and will yield a cluster of progeny carrying the same new mutant allele. In this paper, we discuss the evidence for genetically simple premating isolation barriers and the role that clusters of an isolation mutation may play in initiating allopatric, and even sympatric, species divisions.

  16. Analysis of mutations in the human HPRT gene induced by accelerated heavy-ion irradiation

    International Nuclear Information System (INIS)

    Kagawa, Yasuhiro; Yatagai, Fumio; Hanaoka, Fumio; Suzuki, Masao; Kase, Youko; Kobayashi, Akiko; Hirano, Masahiko; Kato, Takesi; Watanabe, Masami.

    1995-01-01

    Multiplex PCR analysis of HPRT(-) mutations in human embryo (HE) cells induced by 230 keV/μm carbon-ion irradiation showed no large deletion around the exon regions of the locus gene in contrast to the irradiations at different LETs. To identify these mutations, the sequence alterations in a cDNA of hprt gene were determined for 18 mutant clones in this study. Missing of exon 6 was the most frequent mutational event (10 clones), and missing of both exons 6 and 8 was next most frequent event (6 clones), then base substitutions (2 clones). These characteristics were not seen in a similar analysis of spontaneous mutations, which showed base substitution (5 clones), frameshift (2 clones), missing of both exons 2 and 3 (2 clones), and a single unidentified clone. Direct sequencing and restriction enzyme digestion of the genomic DNA of the mutants which showed missing of exons 6 and 8 in the cDNA, supports the possibility that they were induced by aberrant mRNA splicing. (author)

  17. AUTOMATIC CLASSIFICATION OF VARIABLE STARS IN CATALOGS WITH MISSING DATA

    International Nuclear Information System (INIS)

    Pichara, Karim; Protopapas, Pavlos

    2013-01-01

    We present an automatic classification method for astronomical catalogs with missing data. We use Bayesian networks and a probabilistic graphical model that allows us to perform inference to predict missing values given observed data and dependency relationships between variables. To learn a Bayesian network from incomplete data, we use an iterative algorithm that utilizes sampling methods and expectation maximization to estimate the distributions and probabilistic dependencies of variables from data with missing values. To test our model, we use three catalogs with missing data (SAGE, Two Micron All Sky Survey, and UBVI) and one complete catalog (MACHO). We examine how classification accuracy changes when information from missing data catalogs is included, how our method compares to traditional missing data approaches, and at what computational cost. Integrating these catalogs with missing data, we find that classification of variable objects improves by a few percent and by 15% for quasar detection while keeping the computational cost the same

  18. AUTOMATIC CLASSIFICATION OF VARIABLE STARS IN CATALOGS WITH MISSING DATA

    Energy Technology Data Exchange (ETDEWEB)

    Pichara, Karim [Computer Science Department, Pontificia Universidad Católica de Chile, Santiago (Chile); Protopapas, Pavlos [Institute for Applied Computational Science, Harvard University, Cambridge, MA (United States)

    2013-11-10

    We present an automatic classification method for astronomical catalogs with missing data. We use Bayesian networks and a probabilistic graphical model that allows us to perform inference to predict missing values given observed data and dependency relationships between variables. To learn a Bayesian network from incomplete data, we use an iterative algorithm that utilizes sampling methods and expectation maximization to estimate the distributions and probabilistic dependencies of variables from data with missing values. To test our model, we use three catalogs with missing data (SAGE, Two Micron All Sky Survey, and UBVI) and one complete catalog (MACHO). We examine how classification accuracy changes when information from missing data catalogs is included, how our method compares to traditional missing data approaches, and at what computational cost. Integrating these catalogs with missing data, we find that classification of variable objects improves by a few percent and by 15% for quasar detection while keeping the computational cost the same.

  19. Missing value imputation: with application to handwriting data

    Science.gov (United States)

    Xu, Zhen; Srihari, Sargur N.

    2015-01-01

    Missing values make pattern analysis difficult, particularly with limited available data. In longitudinal research, missing values accumulate, thereby aggravating the problem. Here we consider how to deal with temporal data with missing values in handwriting analysis. In the task of studying development of individuality of handwriting, we encountered the fact that feature values are missing for several individuals at several time instances. Six algorithms, i.e., random imputation, mean imputation, most likely independent value imputation, and three methods based on Bayesian network (static Bayesian network, parameter EM, and structural EM), are compared with children's handwriting data. We evaluate the accuracy and robustness of the algorithms under different ratios of missing data and missing values, and useful conclusions are given. Specifically, static Bayesian network is used for our data which contain around 5% missing data to provide adequate accuracy and low computational cost.

  20. Are We Really Missing Small Galaxies?

    Science.gov (United States)

    Kohler, Susanna

    2018-02-01

    One long-standing astrophysical puzzle is that of so-called missing dwarf galaxies: the number of small dwarf galaxies that we observe is far fewer than that predicted by theory. New simulations, however, suggest that perhaps theres no mystery after all.Missing DwarfsDark-matter cosmological simulations predict many small galaxy halos for every large halo that forms. [The Via Lactea project]Models of a lambda-cold-dark-matter (CDM) universe predict the distribution of galaxy halo sizes throughout the universe, suggesting there should be many more small galaxies than large ones. In what has become known as the missing dwarf problem, however, we find that while we observe the expected numbers of galaxies at the larger end of the scale, we dont see nearly enough small galaxies to match the predictions.Are these galaxies actually missing? Are our predictions wrong? Or are the galaxies there and were just not spotting them? A recent study led by Alyson Brooks (Rutgers University) uses new simulations to explore whatscausing the difference between theory and observation.The fraction of detectable halos as a function of velocity, according to the authors simulations. Below 35 km/s, the detectability of the galaxies drops precipitously. [Brooks et al. 2017]Simulating Galactic VelocitiesBecause we cant weigh a galaxy directly, one proxy used for galaxy mass is its circular velocity; the more massive a galaxy, the faster gas and stars rotate around its center. The discrepancy between models and observations lies in whats known as the galaxy velocity function, which describes the number density of galaxies for a given circular velocity. While theory and observations agree for galaxies with circular velocities above 100 km/s, theory predicts far more dwarfs below this velocity than we observe.To investigate this problem, Brooks and collaborators ran a series of cosmological simulations based on our understanding of a CDM universe. Instead of exploring the result using only

  1. iPod the missing manual

    CERN Document Server

    Biersdorfer, J D

    2008-01-01

    With the tiny Shuffle, the Nano, the Classic, or the Touch, Apple's gotten the world hooked on portable music, pictures, videos -- and the iPod. One thing they haven't delivered is an easy guide for getting the most from this sleek entertainment center. iPod: The Missing Manual, 7th Edition gives you a no-nonsense view of the latest iPod line, with crystal-clear explanations, easy-to-follow color graphics, and guidance on the most useful things your iPod can do.

  2. Switching to the Mac The Missing Manual

    CERN Document Server

    Pogue, David

    2010-01-01

    Is Windows giving you pause? Ready to make the leap to the Mac instead? There has never been a better time to switch from Windows to Mac, and this incomparable guide will help you make a smooth transition. New York Times columnist and Missing Manuals creator David Pogue gets you past three challenges: transferring your stuff, assembling Mac programs so you can do what you did with Windows, and learning your way around Mac OS X. Learning to use a Mac is not a piece of cake, but once you do, the rewards are oh-so-much better. No viruses, worms, or spyware. No questionable firewalls, inefficien

  3. Dreamweaver CS55 The Missing Manual

    CERN Document Server

    McFarland, David

    2011-01-01

    Dreamweaver is the tool most widely used for designing and managing professional-looking websites, but it's a complex program. That's where Dreamweaver CS5.5: The Missing Manual comes in. With its jargon-free explanations, 13 hands-on tutorials, and savvy advice from Dreamweaver expert Dave McFarland, you'll master this versatile program with ease. Get A to Z guidance. Go from building your first web page to creating interactive, database-driven sites.Build skills as you learn. Apply your knowledge through tutorials and downloadable practice files.Create a state-of-the-art website. Use powerf

  4. Handling missing data in ranked set sampling

    CERN Document Server

    Bouza-Herrera, Carlos N

    2013-01-01

    The existence of missing observations is a very important aspect to be considered in the application of survey sampling, for example. In human populations they may be caused by a refusal of some interviewees to give the true value for the variable of interest. Traditionally, simple random sampling is used to select samples. Most statistical models are supported by the use of samples selected by means of this design. In recent decades, an alternative design has started being used, which, in many cases, shows an improvement in terms of accuracy compared with traditional sampling. It is called R

  5. Flash CS5 The Missing Manual

    CERN Document Server

    Grover, Chris

    2010-01-01

    Once you know how to use Flash, you can create everything from simple animations to high-end desktop applications, but it's a complex tool that can be difficult to master on your own-unless you have this Missing Manual. This book will help you learn all you need to know about Flash CS5 to create animations that bring your ideas to life. Learn animation basics. Find everything you need to know to get started with FlashMaster the Flash tools. Learn the animation and effects toolset, with clear explanations and hands-on examplesUse 3D effects. Rotate and put objects in motion in three dimensions

  6. Droid X2 The Missing Manual

    CERN Document Server

    Gralla, Preston

    2011-01-01

    Droid X2 has more power and better graphics than its predecessor, but it still doesn't offer a printed guide to its amazing features. This Missing Manual helps you dig deep into everything Droid X2 can do. Learn how to shop, keep in touch, play with photos, listen to music, and even do some work. Unleash the power of this popular device with expert advice. The important stuff you need to know: Get organized. Sync Droid X2 with Google Calendar, Exchange, and Outlook.Go online. Navigate the Web, use email, and tap into Facebook and Twitter.Listen to tunes. Play and manage music using Droid X2'

  7. Creating a Website The Missing Manual

    CERN Document Server

    MacDonald, Matthew

    2011-01-01

    Think you need an army of skilled programmers to build a website? Think again. With nothing more than an ordinary PC, some raw ambition, and this book, you'll learn how to create and maintain a professional-looking, visitor-friendly site. This Missing Manual gives you all the tools, techniques, and expert advice you need. Plan your site. Create web pages by learning the basics of HTML and HTML5.Control page design with CSS. Format text, images, links, tables, and other elements.Attract visitors. Ensure that people can find your site through popular search engines.Build a community. Add forums

  8. Creating a web site the missing manual

    CERN Document Server

    MacDonald, Matthew

    2008-01-01

    Think you have to be a technical wizard to build a great web site? Think again. If you want to create an engaging web site, this thoroughly revised, completely updated edition of Creating a Web Site: The Missing Manual demystifies the process and provides tools, techniques, and expert guidance for developing a professional and reliable web presence. Whether you want to build a personal web site, an e-commerce site, a blog, or a web site for a specific occasion or promotion, this book gives you detailed instructions and clear-headed advice for: Everything from planning to launching. From pi

  9. Windows Vista for Starters The Missing Manual

    CERN Document Server

    Pogue, David

    2010-01-01

    Fast-paced and easy to use, this concise book teaches you the basics of Windows Vista so you can start using this operating system right away. Written by "New York Times" columnist, bestselling author, Emmy-winning CBS News correspondent and Missing Manuals creator David Pogue, the book will help you: Navigate the desktop, including the fast, powerful and fully integrated desktop search functionUse the Media Center to record TV and radio, present photos, play music, and record all of these to a DVDBreeze across the Web with the vastly improved Internet Explorer 7 tabbed browserBecome familiar

  10. Genetic Mutations in Cancer

    Science.gov (United States)

    Many different types of genetic mutations are found in cancer cells. This infographic outlines certain types of alterations that are present in cancer, such as missense, nonsense, frameshift, and chromosome rearrangements.

  11. AIP mutations and gigantism.

    Science.gov (United States)

    Rostomyan, Liliya; Potorac, Iulia; Beckers, Pablo; Daly, Adrian F; Beckers, Albert

    2017-06-01

    AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤30 years). AIP mutations are most prevalent in patients with pituitary gigantism (29% of this group were found to have mutations in AIP gene). These data support targeted genetic screening for AIP mutations/deletions in these groups of pituitary adenoma patients. Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  12. Mutation breeding in peas

    Energy Technology Data Exchange (ETDEWEB)

    Jaranowski, J [Institute of Genetics and Plant Breeding, Academy of Agriculture, Poznan (Poland); Micke, A [Joint FAO/IAEA Division of Isotope and Radiation Applications of Atomic Energy for Food and Agricultural Development, International Atomic Energy Agency, Vienna (Austria)

    1985-02-01

    The pea as an ancient crop plant still today has wide uses and is an import source of food protein. It is also an important object for genetic studies and as such has been widely used in mutation induction experiments. However, in comparison with cereals this ancient crop plant (like several other grain legumes) has gained relatively little from advances in breeding. The review focuses on the prospects of genetic improvement of pea by induced mutations, discusses principles and gives methodological information. (author)

  13. Mutation breeding in peas

    International Nuclear Information System (INIS)

    Jaranowski, J.; Micke, A.

    1985-01-01

    The pea as an ancient crop plant still today has wide uses and is an import source of food protein. It is also an important object for genetic studies and as such has been widely used in mutation induction experiments. However, in comparison with cereals this ancient crop plant (like several other grain legumes) has gained relatively little from advances in breeding. The review focuses on the prospects of genetic improvement of pea by induced mutations, discusses principles and gives methodological information. (author)

  14. "Nudge" and the epidemic of missed appointments.

    Science.gov (United States)

    Aggarwal, Ajay; Davies, Joanna; Sullivan, Richard

    2016-06-20

    Purpose - Missed appointments constitute a significant problem in the UK National Health Service (NHS) and this remains an area where improvements could yield substantial efficiency savings. The purpose of this paper is to suggest that nudge policies based on behavioural theories may help target interventions to improve patient motivation to attend appointments. Design/methodology/approach - The authors propose two policies to reduce missed appointments. The first attempts to empower patients through making the appointment system more individualised to them and utilising their intrinsic feelings of social responsibility. The second policy utilises a financial commitment given by the patient at the time of booking. The different mechanisms of influencing patient behaviour are based on two different views of what motivates individuals' actions. The first policy is based on individuals being "knights". They are altruistic and have well-intentioned values. The second policy option is constructed on the premise that an individual is governed by self-interest, and they are in fact "knaves". Findings - A policy, which avoids the use of financial penalties is likely to be more culturally acceptable within the NHS. It could also prevent the phenomenon of "crowding out" whereby the desire to act dutifully gets displaced by the motivation to avoid incurring a monetary fine. Originality/value - Testing both strategies would provide insight into patient attitudes towards health care and society. This would help optimise behavioural strategies which may influence not only appointment attendances but also have wider implications for encouraging rational health care consumption.

  15. Missed lung cancer: when, where, and why?

    Science.gov (United States)

    del Ciello, Annemilia; Franchi, Paola; Contegiacomo, Andrea; Cicchetti, Giuseppe; Bonomo, Lorenzo; Larici, Anna Rita

    2017-01-01

    Missed lung cancer is a source of concern among radiologists and an important medicolegal challenge. In 90% of the cases, errors in diagnosis of lung cancer occur on chest radiographs. It may be challenging for radiologists to distinguish a lung lesion from bones, pulmonary vessels, mediastinal structures, and other complex anatomical structures on chest radiographs. Nevertheless, lung cancer can also be overlooked on computed tomography (CT) scans, regardless of the context, either if a clinical or radiologic suspect exists or for other reasons. Awareness of the possible causes of overlooking a pulmonary lesion can give radiologists a chance to reduce the occurrence of this eventuality. Various factors contribute to a misdiagnosis of lung cancer on chest radiographs and on CT, often very similar in nature to each other. Observer error is the most significant one and comprises scanning error, recognition error, decision-making error, and satisfaction of search. Tumor characteristics such as lesion size, conspicuity, and location are also crucial in this context. Even technical aspects can contribute to the probability of skipping lung cancer, including image quality and patient positioning and movement. Albeit it is hard to remove missed lung cancer completely, strategies to reduce observer error and methods to improve technique and automated detection may be valuable in reducing its likelihood. PMID:28206951

  16. Tidal Dwarf Galaxies and Missing Baryons

    Directory of Open Access Journals (Sweden)

    Frederic Bournaud

    2010-01-01

    Full Text Available Tidal dwarf galaxies form during the interaction, collision, or merger of massive spiral galaxies. They can resemble “normal” dwarf galaxies in terms of mass, size, and become dwarf satellites orbiting around their massive progenitor. They nevertheless keep some signatures from their origin, making them interesting targets for cosmological studies. In particular, they should be free from dark matter from a spheroidal halo. Flat rotation curves and high dynamical masses may then indicate the presence of an unseen component, and constrain the properties of the “missing baryons,” known to exist but not directly observed. The number of dwarf galaxies in the Universe is another cosmological problem for which it is important to ascertain if tidal dwarf galaxies formed frequently at high redshift, when the merger rate was high, and many of them survived until today. In this paper, “dark matter” is used to refer to the nonbaryonic matter, mostly located in large dark halos, that is, CDM in the standard paradigm, and “missing baryons” or “dark baryons” is used to refer to the baryons known to exist but hardly observed at redshift zero, and are a baryonic dark component that is additional to “dark matter”.

  17. Missing baryonic resonances in the Hagedorn spectrum

    Energy Technology Data Exchange (ETDEWEB)

    Man Lo, Pok [University of Wroclaw, Institute of Theoretical Physics, Wroclaw (Poland); GSI, Extreme Matter Institute EMMI, Darmstadt (Germany); Marczenko, Michal; Sasaki, Chihiro [University of Wroclaw, Institute of Theoretical Physics, Wroclaw (Poland); Redlich, Krzysztof [University of Wroclaw, Institute of Theoretical Physics, Wroclaw (Poland); GSI, Extreme Matter Institute EMMI, Darmstadt (Germany); Duke University, Department of Physics, Durham, NC (United States)

    2016-08-15

    The hadronic medium of QCD is modeled as a gas of point-like hadrons, with its composition determined by the Hagedorn mass spectrum. The spectrum consists of a discrete and a continuous part. The former is determined by the experimentally confirmed resonances tabulated by the Particle Data Group (PDG), while the latter can be extracted from the existing lattice data. This formulation of the hadron resonance gas (HRG) provides a transparent framework to relate the fluctuation of conserved charges as calculated in the lattice QCD approach to the particle content of the medium. A comparison of the two approaches shows that the equation of state is well described by the standard HRG model, which includes only a discrete spectrum of known hadrons. The corresponding description in the strange sector, however, shows clear discrepancies, thus a continuous spectrum is added to incorporate the effect of missing resonances. We propose a method to extract the strange-baryon spectrum from the lattice data. The result is consistent with the trend set by the unconfirmed strange baryons resonances listed by the PDG, suggesting that most of the missing interaction strength for the strange baryons reside in the S = 1 sector. This scenario is also supported by recent lattice calculations, and might be important in the energy region covered by the NICA accelerator in Dubna, where in the heavy-ion collisions, baryons are the dominating degrees of freedom in the final state. (orig.)

  18. Missed pills: frequency, reasons, consequences and solutions.

    Science.gov (United States)

    Chabbert-Buffet, Nathalie; Jamin, Christian; Lete, Iñaki; Lobo, Paloma; Nappi, Rossella E; Pintiaux, Axelle; Häusler, Günther; Fiala, Christian

    2017-06-01

    Oral hormonal contraception is an effective contraceptive method as long as regular daily intake is maintained. However, a daily routine is a constraint for many women and can lead to missed pills, pill discontinuation and/or unintended pregnancy. This article describes the frequency of inconsistent use, the consequences, the risk factors and the possible solutions. The article comprises a narrative review of the literature. Forgetting one to three pills per cycle is a frequent problem among 15-51% of users, generally adolescents. The reasons for this are age, inability to establish a routine, pill unavailability, side effects, loss of motivation and lack of involvement in the initial decision to use oral contraceptives. The consequences are 'escape ovulations' and, possibly, unintended pregnancy. Solutions are either to use a long-acting method or, for women who prefer to take oral contraceptives, use a continuous or long-cycle regimen to reduce the risks of follicular development and thus the likelihood of ovulation and unintended pregnancy. A progestogen with a long half-life can increase ovarian suppression. For women deciding to use oral contraceptives, a shortened or eliminated hormone-free interval and a progestogen with a long half-life may be an option to reduce the negative consequences of missed oral contraceptive pills.

  19. Investigator's Guide to Missing Child Cases. For Law-Enforcement Officers Locating Missing Children. Second Edition.

    Science.gov (United States)

    Patterson, John C.

    This booklet provides guidance to law enforcement officers investigating missing children cases, whether through parental kidnappings, abductions by strangers, runaway or "throwaway" cases, and those in which the circumstances are unknown. The guide describes, step-by-step, the investigative process required for each of the four types of missing…

  20. Multi-center analysis of glucocerebrosidase mutations in Parkinson disease

    Science.gov (United States)

    Sidransky, Ellen; Nalls, Michael A.; Aasly, Jan O.; Aharon-Peretz, Judith; Annesi, Grazia; Barbosa, Egberto Reis; Bar-Shira, Anat; Berg, Daniela; Bras, Jose; Brice, Alexis; Chen, Chiung-Mei; Clark, Lorraine N.; Condroyer, Christel; De Marco, Elvira Valeria; Dürr, Alexandra; Eblan, Michael J.; Fahn, Stanley; Farrer, Matthew; Fung, Hon-Chung; Gan-Or, Ziv; Gasser, Thomas; Gershoni-Baruch, Ruth; Giladi, Nir; Griffith, Alida; Gurevich, Tanya; Januario, Cristina; Kropp, Peter; Lang, Anthony E.; Lee-Chen, Guey-Jen; Lesage, Suzanne; Marder, Karen; Mata, Ignacio F.; Mirelman, Anat; Mitsui, Jun; Mizuta, Ikuko; Nicoletti, Giuseppe; Oliveira, Catarina; Ottman, Ruth; Orr-Urtreger, Avi; Pereira, Lygia V.; Quattrone, Aldo; Rogaeva, Ekaterina; Rolfs, Arndt; Rosenbaum, Hanna; Rozenberg, Roberto; Samii, Ali; Samaddar, Ted; Schulte, Claudia; Sharma, Manu; Singleton, Andrew; Spitz, Mariana; Tan, Eng-King; Tayebi, Nahid; Toda, Tatsushi; Troiano, André; Tsuji, Shoji; Wittstock, Matthias; Wolfsberg, Tyra G.; Wu, Yih-Ru; Zabetian, Cyrus P.; Zhao, Yi; Ziegler, Shira G.

    2010-01-01

    Background Recent studies indicate an increased frequency of mutations in the gene for Gaucher disease, glucocerebrosidase (GBA), among patients with Parkinson disease. An international collaborative study was conducted to ascertain the frequency of GBA mutations in ethnically diverse patients with Parkinson disease. Methods Sixteen centers participated, including five from the Americas, six from Europe, two from Israel and three from Asia. Each received a standard DNA panel to compare genotyping results. Genotypes and phenotypic data from patients and controls were analyzed using multivariate logistic regression models and the Mantel Haenszel procedure to estimate odds ratios (ORs) across studies. The sample included 5691 patients (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews). Results All 16 centers could detect GBA mutations, L444P and N370S, and the two were found in 15.3% of Ashkenazi patients with Parkinson disease (ORs = 4.95 for L444P and 5.62 for N370S), and in 3.2% of non-Ashkenazi patients (ORs = 9.68 for L444P and 3.30 for N370S). GBA was sequenced in 1642 non-Ashkenazi subjects, yielding a frequency of 6.9% for all mutations, demonstrate that limited mutation screens miss half the mutant alleles. The presence of any GBA mutation was associated with an OR of 5.43 across studies. Clinically, although phenotypes varied, subjects with a GBA mutation presented earlier, and were more likely to have affected relatives and atypical manifestations. Conclusion Data collected from sixteen centers demonstrate that there is a strong association between GBA mutations and Parkinson disease. PMID:19846850

  1. What's missing in missing data? Omissions in survey responses among parents of children with advanced cancer.

    Science.gov (United States)

    Rosenberg, Abby R; Dussel, Veronica; Orellana, Liliana; Kang, Tammy; Geyer, J Russel; Feudtner, Chris; Wolfe, Joanne

    2014-08-01

    Missing data is a common phenomenon with survey-based research; patterns of missing data may elucidate why participants decline to answer certain questions. To describe patterns of missing data in the Pediatric Quality of Life and Evaluation of Symptoms Technology (PediQUEST) study, and highlight challenges in asking sensitive research questions. Cross-sectional, survey-based study embedded within a randomized controlled trial. Three large children's hospitals: Dana-Farber/Boston Children's Cancer and Blood Disorders Center (DF/BCCDC); Children's Hospital of Philadelphia (CHOP); and Seattle Children's Hospital (SCH). At the time of their child's enrollment, parents completed the Survey about Caring for Children with Cancer (SCCC), including demographics, perceptions of prognosis, treatment goals, quality of life, and psychological distress. Eighty-six of 104 parents completed surveys (83% response). The proportion of missing data varied by question type. While 14 parents (16%) left demographic fields blank, over half (n=48; 56%) declined to answer at least one question about their child's prognosis, especially life expectancy. The presence of missing data was unrelated to the child's diagnosis, time from progression, time to death, or parent distress (p>0.3 for each). Written explanations in survey margins suggested that addressing a child's life expectancy is particularly challenging for parents. Parents of children with cancer commonly refrain from answering questions about their child's prognosis, however, they may be more likely to address general cure likelihood than explicit life expectancy. Understanding acceptability of sensitive questions in survey-based research will foster higher quality palliative care research.

  2. The History of Miss Jane Pittman

    Directory of Open Access Journals (Sweden)

    Christopher Mulvey

    2006-05-01

    Full Text Available This paper explores the ways in which Ernest J. Gaines uses fiction in The Autobiography of Miss Jane Pittman to write a history of the African American from 1861 to 1961. The “Introduction” sets the novel going, but its direction has already been given in the unusual dedication to his grandmother, stepfather and aunt “who did not walk a day in her life but who taught me the importance of standing” (Gaines iv. The significance for Gaines is that what happened a hundred years ago is part of his present-day lived life.The nineteenth-century novel was possessed by history, and white nineteenth-century novelists found their great subject in the war of European nations that was fought between 1799 and 1815. But that was not an American war nor was it an African American war. For Gaines, the war that makes the great turning point of a nation and a people is the American Civil War, fought from 1861 to 1865. It resulted in a moment of history after which life would not be the same. However, one of the main points that Gaines makes about that great turning point in history is that everything changed and nothing changed. And his main fictional device to establish that truth is to tell the history of the hundred years since Emancipation as the story of one woman. Her autobiography becomes an ethno-biography.The continuity forwards from 1861 is given through the life of one woman, but Gaines’s uses another device to provide a continuity backwards from 1861. The young man who wants to get Miss Jane Pittman’s story upsets her with his persistence: “What you want know about Miss Jane for?’ Mary said. ‘I teach history,’ I said. ‘I’m sure her life’s story can help me explain things to my students.’ ‘What’s wrong with them books you already got?’ Mary said. ‘Miss Jane is not in them,’ I said” (Gaines v. Ernest J. Gaines wrote at a time when historians finally began to recognize that they could get no true history of the

  3. Mutator activity in Schizophyllum commune

    Energy Technology Data Exchange (ETDEWEB)

    Shneyour, Y.; Koltin, Y. (Tel Aviv Univ. (Israel). Dept. of Microbiology)

    1983-01-01

    A strain with an elevated level of spontaneous mutations and an especially high rate of reversion at a specific locus (pab/sup -/) was identified. The mutator trait is recessive. UV sensitivity and the absence of a UV-specific endonucleolytic activity were associated with the enhancement of the mutation rate in mutator strains. The endonuclease associated with the regulation of the mutation rate also acted on single-stranded DNA. The molecular weight of this enzyme is about 38,000 daltons.

  4. Missing transverse energy performance of the CMS detector

    Energy Technology Data Exchange (ETDEWEB)

    Chatrchyan, Serguei [Yerevan Physics Inst. (Armenia); et al.

    2011-09-01

    During 2010 the LHC delivered pp collisions with a centre-of-mass energy of 7 TeV. In this paper, the results of comprehensive studies of missing transverse energy as measured by the CMS detector are presented. The results cover the measurements of the scale and resolution for missing transverse energy, and the effects of multiple pp interactions within the same bunch crossings on the scale and resolution. Anomalous measurements of missing transverse energy are studied, and algorithms for their identification are described. The performances of several reconstruction algorithms for calculating missing transverse energy are compared. An algorithm, called missing-transverse-energy significance, which estimates the compatibility of the reconstructed missing transverse energy with zero, is described, and its performance is demonstrated.

  5. Missing transverse energy performance of the CMS detector

    International Nuclear Information System (INIS)

    2011-01-01

    During 2010 the LHC delivered pp collisions with a centre-of-mass energy of 7 TeV. In this paper, the results of comprehensive studies of missing transverse energy as measured by the CMS detector are presented. The results cover the measurements of the scale and resolution for missing transverse energy, and the effects of multiple pp interactions within the same bunch crossings on the scale and resolution. Anomalous measurements of missing transverse energy are studied, and algorithms for their identification are described. The performance of several reconstruction algorithms for calculating missing transverse energy are compared. An algorithm, called missing-transverse-energy significance, which estimates the compatibility of the reconstructed missing transverse energy with zero, is described, and its performance is demonstrated.

  6. Reducing Competitive Cache Misses in Modern Processor Architectures

    OpenAIRE

    Prisagjanec, Milcho; Mitrevski, Pece

    2017-01-01

    The increasing number of threads inside the cores of a multicore processor, and competitive access to the shared cache memory, become the main reasons for an increased number of competitive cache misses and performance decline. Inevitably, the development of modern processor architectures leads to an increased number of cache misses. In this paper, we make an attempt to implement a technique for decreasing the number of competitive cache misses in the first level of cache memory. This tec...

  7. Impact of teamwork on missed care in four Australian hospitals.

    Science.gov (United States)

    Chapman, Rose; Rahman, Asheq; Courtney, Mary; Chalmers, Cheyne

    2017-01-01

    Investigate effects of teamwork on missed nursing care across a healthcare network in Australia. Missed care is universally used as an indicator of quality nursing care, however, little is known about mitigating effects of teamwork on these events. A descriptive exploratory study. Missed Care and Team Work surveys were completed by 334 nurses. Using Stata software, nursing staff demographic information and components of missed care and teamwork were compared across the healthcare network. Statistical tests were performed to identify predicting factors for missed care. The most commonly reported components of missed care were as follows: ambulation three times per day (43·3%), turning patient every two hours (29%) and mouth care (27·7%). The commonest reasons mentioned for missed care were as follows: inadequate labour resources (range 69·8-52·7%), followed by material resources (range 59·3-33·3%) and communication (range 39·3-27·2%). There were significant differences in missed care scores across units. Using the mean scores in regression correlation matrix, the negative relationship of missed care and teamwork was supported (r = -0·34, p teamwork alone accounted for about 9% of missed nursing care. Similar to previous international research findings, our results showed nursing teamwork significantly impacted on missed nursing care. Teamwork may be a mitigating factor to address missed care and future research is needed. These results may provide administrators, educators and clinicians with information to develop practices and policies to improve patient care internationally. © 2016 John Wiley & Sons Ltd.

  8. iPod The Missing Manual

    CERN Document Server

    Biersdorfer, J D

    2010-01-01

    With iPod and iTunes, Apple's gotten the world hooked on portable music, pictures, and videos. One thing they haven't delivered, though, is an easy guide for getting the most from your sleek little entertainment center. Enter iPod: The Missing Manual, 5th Edition-a book as breathtaking and satisfying as its subject. Our latest edition thoroughly covers the redesigned iPod Nanos, the video iPod, the tiny Shuffle and the overhauled iTunes 7. Each custom-designed page sports easy-to-follow color graphics, crystal-clear explanations, and guidance on the most useful things your iPod can do. Topic

  9. Bladder injuries frequently missed in polytrauma patients

    Directory of Open Access Journals (Sweden)

    Tanweer Karim

    2010-05-01

    Full Text Available Tanweer Karim, Margaret Topno, Vinod Sharma, Raymond Picardo, Ankur HastirSurgery, MGM Medical College, Kamothe, Navi Mumbai, IndiaAbstract: Bladder injuries are very common in patients who have had road traffic accidents. The method of diagnosis and management of such injuries is well established and accepted. However, trauma to the bladder can be associated with other life-threatening injuries which are frequently missed, and often diagnosed during laparotomy for other reasons. The aim of this study was to diagnose bladder injury in polytrauma patients as early as possible, taking into consideration the fact that these patients are hemodynamically unstable and require rapid evaluation and management. In order to achieve our objective, we used bedside sonography with retrograde instillation of normal saline to diagnose bladder injury in addition to use of the conventional retrograde cystogram.Keywords: bladder injury, bladder rupture, retrograde cystogram

  10. iPad The Missing Manual

    CERN Document Server

    Biersdorfer, J

    2010-01-01

    The iPad 2 is faster, lighter, and more versatile than its predecessor, but there's still no printed guide to using its amazing features. That's where this full-color Missing Manual comes in. Learn how to stream HD video, make video calls, manage your email, surf the Web, listen to music, play games, and maybe even do a little iWork. This is the book that should have been in the box. Build your media library. Fill your iPad with music, movies, TV shows, eBooks, photos, and more.Share with others. Stream music, HD movies, TV shows, and more, to and from your iPad.Create your own media. Use the

  11. iPad 2 The Missing Manual

    CERN Document Server

    Biersdorfer, JD

    2011-01-01

    With iOS 5, Apple added more than 200 new features to the iPad 2, but there's still no printed guide to using all its amazing capabilities. That's where this full-color Missing Manual comes in. You'll learn how to stuff your iPad with media, organize your personal life, wirelessly stream content to and from your tablet, stay connected to friends, and much more. The important stuff you need to know: Build your media library. Fill your iPad with music, movies, TV shows, eBooks, eMagazines, photos, and more.Go wireless. Sync content between your computer and iPad-no wires needed.Get online. Con

  12. Missing IUD Despite Threads at the Cervix

    Directory of Open Access Journals (Sweden)

    Andrew L. Atkinson

    2014-01-01

    Full Text Available Today, the intrauterine device (IUD is by far the most popular form of long term reversible contraception in the world. Side effects from the IUD are minimal and complications are rare. Uterine perforation and migration of the IUD outside the uterine cavity are the most serious complications. Physician visualization and/or the patient feeling retrieval threads at the cervical os are confirmation that the IUD has not been expelled or migrated. We present a case of a perforated, intraperitoneal IUD with threads noted at the cervical os. Office removal was not possible using gentle traction on the threads. Multiple imaging and endoscopic modalities were used to try and locate the IUD including pelvic ultrasound, diagnostic hysteroscopy, cystoscopy, and pelvic magnetic resonance imaging (MRI. The studies gave conflicting results on location of the IUD. Ultimately, the missing IUD was removed via laparoscopy.

  13. iPod The Missing Manual

    CERN Document Server

    Biersdorfer, J D

    2011-01-01

    Apple's iPod still has the world hooked on portable music, pictures, videos, movies, and more, but one thing it doesn't have is a manual that helps you can get the most out this amazing device. That's where this book comes in. Get the complete scoop on the latest line of iPods and the latest version of iTunes with the guide that outshines them all-iPod: The Missing Manual. The 10th edition is as useful, satisfying, and reliable as its subject. Teeming with high-quality color graphics, each page helps you accomplish a specific task-everything from managing your media and installing and browsi

  14. The missing mass of the universe

    International Nuclear Information System (INIS)

    Lachieze-Rey, M.

    2002-01-01

    The existence of dark matter is suggested by 2 facts: 1) the real mass of matter inside galaxies must be 10 times greater than the observed mass to explain the values of the spinning velocity of galaxies around their centers. Furthermore the value of this velocity does not depend a lot on the distance to the center of the galaxy, this implies that the missing mass is uniformly distributed inside galaxies; 2) According to general relativity, massive celestial bodies produce a curvature of space-time that generates a deviation of light beams. These deviations have been studied and it appears that they require the presence of a far more important quantity of matter than the quantity reduced to visible matter. The missing mass issue arises 3 problems, the first problem comes from the existence of a great part of ordinary (baryonic) matter that is invisible: the global mass of stars represents only 10 % of the total baryonic mass of the universe. This invisible ordinary matter might exist in condensed form in black-hole, giant planets or brown dwarfs roaming the galaxies. The second problem arose when most scientists were convinced of the existence of huge quantity of non-baryonic matter, 10 times more abundant than the baryonic matter. The supersymmetric extension of the standard model allows the existence of particles that might be candidate for carrying this non-baryonic mass. The third problem appeared recently when measurement of the curvature of the space-time has shown that the 3 forms of matter: visible matter, invisible ordinary matter and non-baryonic matter contribute together to only one third of the total energy of the universe. (A.C.)

  15. Validation of an NGS mutation detection panel for melanoma.

    Science.gov (United States)

    Reiman, Anne; Kikuchi, Hugh; Scocchia, Daniela; Smith, Peter; Tsang, Yee Wah; Snead, David; Cree, Ian A

    2017-02-22

    Knowledge of the genotype of melanoma is important to guide patient management. Identification of mutations in BRAF and c-KIT lead directly to targeted treatment, but it is also helpful to know if there are driver oncogene mutations in NRAS, GNAQ or GNA11 as these patients may benefit from alternative strategies such as immunotherapy. While polymerase chain reaction (PCR) methods are often used to detect BRAF mutations, next generation sequencing (NGS) is able to determine all of the necessary information on several genes at once, with potential advantages in turnaround time. We describe here an Ampliseq hotspot panel for melanoma for use with the IonTorrent Personal Genome Machine (PGM) which covers the mutations currently of most clinical interest. We have validated this in 151 cases of skin and uveal melanoma from our files, and correlated the data with PCR based assessment of BRAF status. There was excellent agreement, with few discrepancies, though NGS does have greater coverage and picks up some mutations that would be missed by PCR. However, these are often rare and of unknown significance for treatment. PCR methods are rapid, less time-consuming and less expensive than NGS, and could be used as triage for patients requiring more extensive diagnostic workup. The NGS panel described here is suitable for clinical use with formalin-fixed paraffin-embedded (FFPE) samples.

  16. Missed Opportunities For Immunization In Children And Pregnant Women

    Directory of Open Access Journals (Sweden)

    Benjamin A I

    1990-01-01

    Full Text Available The role of immunization in reducing childhood mortality cannot be over-emphasised, yet many opportunities for immunization are missed when children and pregnant women visit a health facility. Reducing missed opportunities is the cheapest way to increase immunization coverage. The present study discusses the extent of the problem of missed opportunities for immunization in children and pregnant women and the factors contributing to the problem, in spatiality and community outreach clinics of Christian Medical College & Hospital, Ludhiana. Recommendations are made regarding ways and means of reducing missed opportunities.

  17. Social perspective: the missing element in mental health practice

    National Research Council Canada - National Science Library

    U'Ren, Richard C

    2011-01-01

    .... ________________________________________________________________ Library and Archives Canada Cataloguing in Publication U'Ren, Richard, 1939- Social perspective : the missing element in mental health practice / Richard U'Ren...

  18. MutScan: fast detection and visualization of target mutations by scanning FASTQ data.

    Science.gov (United States)

    Chen, Shifu; Huang, Tanxiao; Wen, Tiexiang; Li, Hong; Xu, Mingyan; Gu, Jia

    2018-01-22

    Some types of clinical genetic tests, such as cancer testing using circulating tumor DNA (ctDNA), require sensitive detection of known target mutations. However, conventional next-generation sequencing (NGS) data analysis pipelines typically involve different steps of filtering, which may cause miss-detection of key mutations with low frequencies. Variant validation is also indicated for key mutations detected by bioinformatics pipelines. Typically, this process can be executed using alignment visualization tools such as IGV or GenomeBrowse. However, these tools are too heavy and therefore unsuitable for validating mutations in ultra-deep sequencing data. We developed MutScan to address problems of sensitive detection and efficient validation for target mutations. MutScan involves highly optimized string-searching algorithms, which can scan input FASTQ files to grab all reads that support target mutations. The collected supporting reads for each target mutation will be piled up and visualized using web technologies such as HTML and JavaScript. Algorithms such as rolling hash and bloom filter are applied to accelerate scanning and make MutScan applicable to detect or visualize target mutations in a very fast way. MutScan is a tool for the detection and visualization of target mutations by only scanning FASTQ raw data directly. Compared to conventional pipelines, this offers a very high performance, executing about 20 times faster, and offering maximal sensitivity since it can grab mutations with even one single supporting read. MutScan visualizes detected mutations by generating interactive pile-ups using web technologies. These can serve to validate target mutations, thus avoiding false positives. Furthermore, MutScan can visualize all mutation records in a VCF file to HTML pages for cloud-friendly VCF validation. MutScan is an open source tool available at GitHub: https://github.com/OpenGene/MutScan.

  19. [Missed lessons, missed opportunities: a role for public health services in medical absenteeism in young people].

    Science.gov (United States)

    Vanneste, Y T M; van de Goor, L A M; Feron, F J M

    2016-01-01

    Young people who often miss school for health reasons are not only missing education, but also the daily routine of school, and social intercourse with their classmates. Medical absenteeism among students merits greater attention. For a number of years, in various regions in the Netherlands, students with extensive medical absenteeism have been invited to see a youth healthcare specialist. The MASS intervention (Medical Advice of Students reported Sick; in Dutch: Medische Advisering van de Ziekgemelde Leerling, abbreviated as M@ZL) has been developed by the West Brabant Regional Public Health Service together with secondary schools to address school absenteeism due to reporting sick. In this paper we discuss the MASS intervention and explain why attention should be paid by public health services to the problem of school absenteeism, especially absenteeism on health grounds.

  20. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

    Science.gov (United States)

    Simeonov, Dimitre R.; Wang, Xinjing; Wang, Chen; Sergeev, Yuri; Dolinska, Monika; Bower, Matthew; Fischer, Roxanne; Winer, David; Dubrovsky, Genia; Balog, Joan Z.; Huizing, Marjan; Hart, Rachel; Zein, Wadih M.; Gahl, William A.; Brooks, Brian P.; Adams, David R.

    2014-01-01

    Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA, caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and 8 from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA mutations, along with ethnicity information, carrier frequencies, and in silico pathogenicity predictions. In addition to discussing the clinical and molecular features of OCA, we address the cases of apparent missing heritability. In our cohort, 25% of patients did not have two mutations in a single OCA gene. We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing. Finally, we review the TYR p.R402Q temperature sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation. PMID:23504663

  1. Are There Mutator Polymerases?

    Directory of Open Access Journals (Sweden)

    Miguel Garcia-Diaz

    2003-01-01

    Full Text Available DNA polymerases are involved in different cellular events, including genome replication and DNA repair. In the last few years, a large number of novel DNA polymerases have been discovered, and the biochemical analysis of their properties has revealed a long list of intriguing features. Some of these polymerases have a very low fidelity and have been suggested to play mutator roles in different processes, like translesion synthesis or somatic hypermutation. The current view of these processes is reviewed, and the current understanding of DNA polymerases and their role as mutator enzymes is discussed.

  2. MUTATIONS IN CALMODULIN GENES

    DEFF Research Database (Denmark)

    2013-01-01

    The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder. The ...... the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes....

  3. STUDY ON MATERNAL MORTALITY AND NEAR MISS CASE

    Directory of Open Access Journals (Sweden)

    Ritanjali Behera

    2017-12-01

    Full Text Available BACKGROUND Maternal mortality traditionally has been the indicator of maternal health. More recently the review of cases of near miss obstetric event is found to be useful to investigate maternal mortality. Cases of near miss are those, where a woman nearly died but survived a complication that occur during pregnancy or child birth. Aim and Objective 1. To analyse near miss cases and maternal deaths. 2. To determine maternal near miss indicator and to analyse the cause and contributing factors for both of them. MATERIALS AND METHODS This prospective observational study conducted in M.K.C.G. medical college, Berhampur from 1st October 2015 to 30th September 2017. All the cases of maternal deaths and near miss cases defined by WHO criteria are taken. Information regarding demographic profile and reproductive parameters are collected and results are analysed using percentage and proportion. RESULTS Out of 17977 deliveries 201 were near miss cases and 116 were maternal deaths. MMR was 681, near miss incidence 1.18, maternal death to near miss ratio was 1:1.73. Hypertensive disorder of pregnancy (37.4% was the leading cause followed by haemorrhage (17.4%. For near miss cases 101 cases fulfilled clinical criteria, 61 laboratory criteria and 131 cases management based criteria. CONCLUSION Hypertensive disorder of pregnancy and haemorrhage are the leading cause of maternal death and for near miss cases most common organ system involved was cardiovascular system. All the near miss cases should be interpreted as opportunities to improve the health care services.

  4. Handling missing values in the MDS-UPDRS.

    Science.gov (United States)

    Goetz, Christopher G; Luo, Sheng; Wang, Lu; Tilley, Barbara C; LaPelle, Nancy R; Stebbins, Glenn T

    2015-10-01

    This study was undertaken to define the number of missing values permissible to render valid total scores for each Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) part. To handle missing values, imputation strategies serve as guidelines to reject an incomplete rating or create a surrogate score. We tested a rigorous, scale-specific, data-based approach to handling missing values for the MDS-UPDRS. From two large MDS-UPDRS datasets, we sequentially deleted item scores, either consistently (same items) or randomly (different items) across all subjects. Lin's Concordance Correlation Coefficient (CCC) compared scores calculated without missing values with prorated scores based on sequentially increasing missing values. The maximal number of missing values retaining a CCC greater than 0.95 determined the threshold for rendering a valid prorated score. A second confirmatory sample was selected from the MDS-UPDRS international translation program. To provide valid part scores applicable across all Hoehn and Yahr (H&Y) stages when the same items are consistently missing, one missing item from Part I, one from Part II, three from Part III, but none from Part IV can be allowed. To provide valid part scores applicable across all H&Y stages when random item entries are missing, one missing item from Part I, two from Part II, seven from Part III, but none from Part IV can be allowed. All cutoff values were confirmed in the validation sample. These analyses are useful for constructing valid surrogate part scores for MDS-UPDRS when missing items fall within the identified threshold and give scientific justification for rejecting partially completed ratings that fall below the threshold. © 2015 International Parkinson and Movement Disorder Society.

  5. An interference account of the missing-VP effect

    Directory of Open Access Journals (Sweden)

    Markus eBader

    2015-06-01

    Full Text Available Sentences with doubly center-embedded relative clauses in which a verb phrase (VP is missing are sometimes perceived as grammatical, thus giving rise to an illusion of grammaticality. In this paper, we provide a new account of why missing-VP sentences, which are both complex and ungrammatical, lead to an illusion of grammaticality, the so-called missing-VP effect. We propose that the missing-VP effect in particular, and processing difficulties with multiply center-embedded clauses more generally, are best understood as resulting from interference during cue-based retrieval. When processing a sentence with double center-embedding, a retrieval error due to interference can cause the verb of an embedded clause to be erroneously attached into a higher clause. This can lead to an illusion of grammaticality in the case of missing-VP sentences and to processing complexity in the case of complete sentences with double center-embedding. Evidence for an interference account of the missing-VP effect comes from experiments that have investigated the missing-VP effect in German using a speeded grammaticality judgments procedure. We review this evidence and then present two new experiments that show that the missing VP effect can be found in German also with less restricting procedures. One experiment was a questionnaire study which required grammaticality judgments from participants but without imposing any time constraints. The second experiment used a self-paced reading procedure and did not require any judgments. Both experiments confirm the prior findings of missing-VP effects in German and also show that the missing-VP effect is subject to a primacy effect as known from the memory literature. Based on this evidence, we argue that an account of missing-VP effects in terms of interference during cue-based retrieval is superior to accounts in terms of limited memory resources or in terms of experience with embedded structures.

  6. The Hunt for Missing Dwarf Galaxies

    Science.gov (United States)

    Kohler, Susanna

    2015-11-01

    Theories of galaxy formation and evolution predict that there should be significantly more dwarf galaxies than have been observed. Are our theories wrong? Or are dwarf galaxies just difficult to detect? Recent results from a survey of a galaxy cluster 62 million light-years away suggest there may be lots of undiscovered dwarf galaxies hiding throughout the universe!Hiding in FaintnessThe missing dwarf problem has had hints of a resolution with the recent discovery of Ultra-Diffuse Galaxies (UDGs) in the Coma and Virgo galaxy clusters. UDGs have low masses and large radii, resulting in a very low surface brightness that makes them extremely difficult to detect. If many dwarfs are UDGs, this could well explain why weve been missing them!But the Coma and Virgo galaxy clusters are similar in that theyre both very massive. Are there UDGs in other galaxy clusters as well? To answer this question, an international team of scientists is running the Next Generation Fornax Survey (NGFS), a survey searching for faint dwarf galaxies in the central 30 square degrees of the Fornax galaxy cluster.The NGFS uses near-UV and optical observations from the Dark Energy Camera mounted on the 4m Blanco Telescope in Chile. The survey is still underway, but in a recent publication led by Roberto P. Muoz (Institute of Astrophysics at the Pontifical Catholic University of Chile), the team has released an overview of the first results from only the central 3 square degrees of the NGFS field.Surprising DetectionGalaxy radii vs. their absolute i-band magnitudes, for the dwarfs found in NGFS as well as other stellar systems in the nearby universe. The NGFS dwarfs are similar to the ultra-diffuse dwarfs found in the Virgo and Coma clusters, but are several orders of magnitude fainter. [Muoz et al. 2015]In just this small central field, the team has found an astounding 284 low-surface-brightness dwarf galaxy candidates 158 of them previously undetected. At the bright end of this sample are dwarf

  7. 9 CFR 2.128 - Inspection for missing animals.

    Science.gov (United States)

    2010-01-01

    ... 9 Animals and Animal Products 1 2010-01-01 2010-01-01 false Inspection for missing animals. 2.128 Section 2.128 Animals and Animal Products ANIMAL AND PLANT HEALTH INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE ANIMAL WELFARE REGULATIONS Miscellaneous § 2.128 Inspection for missing animals. Each dealer...

  8. Why Patients Miss Follow-Up Appointments: A Prospective Control ...

    African Journals Online (AJOL)

    Reasons include: transport (19 responses), ill-health (6) and financial constraints (5). State transport was unavailable to almost twothirds of the responders who cited transport as a problem. Conclusions: The 17% missed appointment rate is largely due to transport constraints. The commonest time for patients to miss ...

  9. 577 Missed opportunities for inununisation in Natal health facilities

    African Journals Online (AJOL)

    Wkly Epidemwl Rec 1984; 59: 117-119. 5. Expanded Programme on Immunization. Missed immunizacion opportunities and acceptability of immunization. Wkly Epidemiol Rec. 1989;64: 181-184. . . 6. Loevinsohn BP. Missed opportunities for immunization during visits for curative care: practical reasons for their occurrence.

  10. 40 CFR 75.37 - Missing data procedures for moisture.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 16 2010-07-01 2010-07-01 false Missing data procedures for moisture... data procedures for moisture. (a) The owner or operator of a unit with a continuous moisture monitoring system shall substitute for missing moisture data using the procedures of this section. (b) Where no...

  11. 40 CFR 98.405 - Procedures for estimating missing data.

    Science.gov (United States)

    2010-07-01

    ... meter malfunctions), a substitute data value for the missing quantity measurement must be used in the... period for any reason, the reporter shall use either its delivering pipeline measurements or the default... § 98.405 Procedures for estimating missing data. (a) Whenever a quality-assured value of the quantity...

  12. Incidence and Correlates of Maternal Near Miss in Southeast Iran

    Directory of Open Access Journals (Sweden)

    Tayebeh Naderi

    2015-01-01

    Full Text Available This prospective study aimed to estimate the incidence and associated factors of severe maternal morbidity in southeast Iran. During a 9-month period in 2013, all women referring to eight hospitals for termination of pregnancy as well as women admitted during 42 days after the termination of pregnancy were enrolled into the study. Maternal near miss conditions were defined based on Say et al.’s recommendations. Five hundred and one cases of maternal near miss and 19,908 live births occurred in the study period, yielding a maternal near miss ratio of 25.2 per 1000 live births. This rate was 7.5 and 105 per 1000 in private and tertiary care settings, respectively. The rate of maternal death in near miss cases was 0.40% with a case:fatality ratio of 250 : 1. The most prevalent causes of near miss were severe preeclampsia (27.3%, ectopic pregnancy (18.4%, and abruptio placentae (16.2%. Higher age, higher education, and being primiparous were associated with a higher risk of near miss. Considering the high rate of maternal near miss in referral hospitals, maternal near miss surveillance system should be set up in these hospitals to identify cases of severe maternal morbidity as soon as possible.

  13. 78 FR 37598 - Missing Participants in Individual Account Plans

    Science.gov (United States)

    2013-06-21

    ... information from the public to assist it in making decisions about implementing a new program to deal with... allocated to such participant's account.'' Before making decisions about implementing a missing participants... PENSION BENEFIT GUARANTY CORPORATION Missing Participants in Individual Account Plans AGENCY...

  14. Handling of incidents, near-misses

    International Nuclear Information System (INIS)

    Renborg, Bo; Jonsson, Klas; Broqvist, Kristoffer; Keski-Seppaelae, Sven

    2006-12-01

    This work has primarily been done as a study of available literature about reporting systems. The following items have also been considered: the participants' experience of safety work in general and reporting systems in particular, as well as correspondence with researchers and organisations that have experience from reporting systems in safety-critical applications. A number of definitions of the English term 'near-miss' have been found in the documentation about safety-critical systems. An important conclusion is that creating a precise definition in itself is not critical. The main objective is to persuade the individuals to report perceived risks as well as actual events or conditions. In this report, we have chosen to use the following definition of what should be reported: A condition or an incident with potential for more serious consequences. The reporting systems that have been evaluated have all data in the same system; they do not divide data into separate systems for incidents or 'near-misses'. The term incident in the literature is not used consistently, especially if both Swedish and English texts are considered. In a large portion of the documentation where the reporting system is mentioned, the focus lies more on analysis than on the problem with the willingness to report. Even when the focus is on reporting it is often dealing with the design of the actual report in order to enable the subsequent treatment of data. In some cases this has led to unnecessary complicated report forms. The cornerstone of a high willingness to report is the creation of a 'no-blame' culture. Based on experience it can be concluded that the question whether a report could lead to personal reprisals is crucial. Even a system that explicitly gives the reporter immunity is still brittle. The bare suspicion (that immunity may vanish) in the mind of the one reporting reduces the willingness to report dramatically. Meaning that the purpose of the analysis of reports must be to

  15. Mutation, somatic mutation and diseases of man

    International Nuclear Information System (INIS)

    Burnet, F.M.

    1976-01-01

    The relevance of the intrinsic mutagenesis for the evolution process, genetic diseases and the process of aging is exemplified. The fundamental reaction is the function of the DNA and the DNA-enzymes like the DNA-polymerases in replication, repair, and transcription. These defects are responsible for the mutation frequency and the genetic drift in the evolution process. They cause genetic diseases like Xeroderma pigmentosum which is described here in detail. The accumulation of structural and functional mistakes leads to diseases of old age, for example to autoimmune diseases and immune suppression. There is a proportionality between the duration of life and the frequency of mistakes in the enzymatic repair system. No possibility of prophylaxis or therapy is seen. Methods for prognosis could be developed. (AJ) [de

  16. Mutations and chromosomal aberrations

    International Nuclear Information System (INIS)

    Kihlman, B.A.

    1977-01-01

    The genetic changes of mutations and chromosomal aberrations are discussed. The consequences of both depend not only on the type of genetic change produced but also on the type of cell that is affected and on the development stage of the organism. (C.F.)

  17. Mutations in GABRB3

    DEFF Research Database (Denmark)

    Møller, Rikke S; Wuttke, Thomas V; Helbig, Ingo

    2017-01-01

    OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing ...

  18. Kin Selection - Mutation Balance

    DEFF Research Database (Denmark)

    Dyken, J. David Van; Linksvayer, Timothy Arnold; Wade, Michael J.

    2011-01-01

    selection-mutation balance, which provides an evolutionary null hypothesis for the statics and dynamics of cheating. When social interactions have linear fitness effects and Hamilton´s rule is satisfied, selection is never strong enough to eliminate recurrent cheater mutants from a population, but cheater...

  19. Missed opportunities for HPV immunization among young adult women

    Science.gov (United States)

    Oliveira, Carlos R.; Rock, Robert M.; Shapiro, Eugene D.; Xu, Xiao; Lundsberg, Lisbet; Zhang, Liye B.; Gariepy, Aileen; Illuzzi, Jessica L.; Sheth, Sangini S.

    2018-01-01

    BACKGROUND Despite the availability of a safe and efficacious vaccine against human papillomavirus, uptake of the vaccine in the United States is low. Missed clinical opportunities to recommend and to administer human papillomavirus vaccine are considered one of the most important reasons for its low uptake in adolescents; however, little is known about the frequency or characteristics of missed opportunities in the young adult (18–26 years of age) population. OBJECTIVE The objective of the study was to assess both the rates of and the factors associated with missed opportunities for human papillomavirus immunization among young adult women who attended an urban obstetrics and gynecology clinic. STUDY DESIGN In this cross-sectional study, medical records were reviewed for all women 18–26 years of age who were underimmunized (<3 doses) and who sought care from Feb. 1, 2013, to January 31, 2014, at an urban, hospital-based obstetrics and gynecology clinic. A missed opportunity for human papillomavirus immunization was defined as a clinic visit at which the patient was eligible to receive the vaccine and a dose was due but not administered. Multivariable logistic regression was used to test associations between sociodemographic variables and missed opportunities. RESULTS There were 1670 vaccine-eligible visits by 1241 underimmunized women, with a mean of 1.3 missed opportunities/person. During the study period, 833 of the vaccine eligible women (67.1%) had at least 1 missed opportunity. Overall, the most common types of visits during which a missed opportunity occurred were postpartum visits (17%) or visits for either sexually transmitted disease screening (21%) or contraception (33%). Of the patients with a missed opportunity, 26.5% had a visit at which an injectable medication or a different vaccine was administered. Women who identified their race as black had higher adjusted odds of having a missed opportunity compared with white women (adjusted odds ratio, 1

  20. Missing transverse momentum in ATLAS: current and future performance

    CERN Document Server

    Schramm, S; The ATLAS collaboration

    2014-01-01

    During the Run-I data taking period, ATLAS has developed and refined several approaches for measuring missing transverse momentum in proton-proton collisions. Standard calorimeter-based $\\mathrm{E}_\\mathrm{T}^\\mathrm{miss}$ reconstruction techniques have been improved to obtain new levels of precision, while new track-based $\\mathrm{p}_\\mathrm{T}^\\mathrm{miss}$ methods provide for a way to have a second independent measurement of the momentum lost due to particles which do not leave tracks in the inner detectors. While both procedures are individually useful, preliminary studies have shown that combining information from both techniques leads to an improved understanding of missing transverse momentum. Data taking conditions during Run-I varied extensively, especially with respect to the amount of pileup activity present in each event, which provides unique challenges to calorimeter-based $\\mathrm{E}_\\mathrm{T}^\\mathrm{miss}$. Multiple solutions have been demonstrated, including methods which exploit both cal...

  1. MISSE in the Materials and Processes Technical Information System (MAPTIS )

    Science.gov (United States)

    Burns, DeWitt; Finckenor, Miria; Henrie, Ben

    2013-01-01

    Materials International Space Station Experiment (MISSE) data is now being collected and distributed through the Materials and Processes Technical Information System (MAPTIS) at Marshall Space Flight Center in Huntsville, Alabama. MISSE data has been instrumental in many programs and continues to be an important source of data for the space community. To facilitate great access to the MISSE data the International Space Station (ISS) program office and MAPTIS are working to gather this data into a central location. The MISSE database contains information about materials, samples, and flights along with pictures, pdfs, excel files, word documents, and other files types. Major capabilities of the system are: access control, browsing, searching, reports, and record comparison. The search capabilities will search within any searchable files so even if the desired meta-data has not been associated data can still be retrieved. Other functionality will continue to be added to the MISSE database as the Athena Platform is expanded

  2. Slp-76 is a critical determinant of NK-cell mediated recognition of missing-self targets.

    Science.gov (United States)

    Lampe, Kristin; Endale, Mehari; Cashman, Siobhan; Fang, Hao; Mattner, Jochen; Hildeman, David; Hoebe, Kasper

    2015-07-01

    Absence of MHC class I expression is an important mechanism by which NK cells recognize a variety of target cells, yet the pathways underlying "missing-self" recognition, including the involvement of activating receptors, remain poorly understood. Using ethyl-N-nitrosourea mutagenesis in mice, we identified a germline mutant, designated Ace, with a marked defect in NK cell mediated recognition and elimination of "missing-self" targets. The causative mutation was linked to chromosome 11 and identified as a missense mutation (Thr428Ile) in the SH2 domain of Slp-76-a critical adapter molecule downstream of ITAM-containing surface receptors. The Slp-76 Ace mutation behaved as a hypomorphic allele-while no major defects were observed in conventional T-cell development/function, a marked defect in NK cell mediated elimination of β2-microglobulin (β2M) deficient target cells was observed. Further studies revealed Slp-76 to control NK-cell receptor expression and maturation; however, activation of Slp-76(ace/ace) NK cells through ITAM-containing NK-cell receptors or allogeneic/tumor target cells appeared largely unaffected. Imagestream analysis of the NK-β2M(-/-) target cell synapse revealed a specific defect in actin recruitment to the conjugate synapse in Slp-76(ace/ace) NK cells. Overall these studies establish Slp-76 as a critical determinant of NK-cell development and NK cell mediated elimination of missing-self target cells in mice. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  3. Mutations in galactosemia

    Energy Technology Data Exchange (ETDEWEB)

    Reichardt, J.K.V. [Univ. of Southern California School of Medicine, Los Angeles, CA (United States)

    1995-10-01

    This Letter raises four issues concerning two papers on galactosemia published in the March 1995 of the Journal. First, table 2 in the paper by Elsas et al. incorrectly attributes seven galactose-l-phosphate uridyl transferase (GALT) mutations (S135L, L195P, K285N, N314D, R333W, R333G, and K334R). The table also fails to mention that others have reported the same two findings attributed to {open_quotes}Leslie et al.; Elsas et al. and in press{close_quotes} and {open_quotes}Leslie et al.; Elsas et al.{close_quotes} The first finding on the prevalence of the Q188R galactosemia mutation in the G/G Caucasian population has also been described by Ng et al., and the second finding on the correlation of the N314D GALT mutation with the Duarte variant was reported by Lin et al. Second, Elsas et al. suggest that the E203K and N314D mutations may {open_quotes}produce intra-allelic complementation when in cis{close_quotes}. This speculation is supported by the activity data of individual III-2 but is inconsistent with the activities of three other individuals I-1, II-1, and III-1 of the same pedigree. The GALT activity measured in these three individuals suggests a dominant negative effect of E203K in E203K-N314D chromosomes, since they all have less than normal activity. Thus, the preponderance of the data in this paper is at odds with the authors speculation. It is worth recalling that Lin et al. also identified four N314D GALT mutations on 95 galactosemic chromosomes examined. A similar situation also appears to be the case in proband III-1 (with genotype E203K-N314D/IVSC) in the Elsas et al. paper. 9 refs.

  4. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

    Science.gov (United States)

    Krieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S; Goebel, Hans H; Häussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, François; Rudnik-Schöneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Gökhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan

    2013-12-01

    Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjögren syndrome triad (ataxia, cataracts, myopathy) whereas the detection rate in the group of patients with more variable phenotypic presentation was below 3% (1/37). We report 16 unrelated families with a total of 19 different SIL1 mutations. Among these mutations are 15 previously unreported changes, including single- and multi-exon deletions. Based on data from our screening cohort and data compiled from the literature we found that SIL1 mutations are invariably associated with the combination of a cerebellar syndrome and chronic myopathy. Cataracts were observed in all patients beyond the age of 7 years, but might be missing in infants. Six patients with SIL1 mutations had no intellectual disability, extending the known wide range of cognitive capabilities in Marinesco-Sjögren syndrome to include normal intelligence. Modestly constant features were somatic growth retardation, skeletal abnormalities and pyramidal tract signs. Examination of mutant SIL1 expression in cultured patient lymphoblasts suggested that SIL1 mutations result in severely reduced SIL1 protein levels irrespective of the type and position of mutations. Our data broaden the SIL1 mutation spectrum and confirm that SIL1 is the major Marinesco-Sjögren syndrome gene. SIL1 patients usually present with the characteristic triad but cataracts might be

  5. Mutation breeding newsletter. No. 45

    International Nuclear Information System (INIS)

    2001-07-01

    This issue of the Mutation Breeding newsletter contains 39 articles dealing with radiation induced mutations and chemical mutagenesis techniques in plant breeding programs with the aims of improving crop productivity and disease resistance as well as exploring genetic variabilities

  6. Mutation breeding newsletter. No. 33

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1989-01-01

    This issue of the newsletter reports a number of research news and research abstracts on application of radiation induced mutation techniques to increase mutagenesis and mutation frequency in plant breeding projects.

  7. Mutation breeding newsletter. No. 33

    International Nuclear Information System (INIS)

    1989-01-01

    This issue of the newsletter reports a number of research news and research abstracts on application of radiation induced mutation techniques to increase mutagenesis and mutation frequency in plant breeding projects

  8. Maternal Near-Miss: A Multicenter Surveillance in Kathmandu Valley

    Directory of Open Access Journals (Sweden)

    Ashma Rana

    2013-06-01

    Full Text Available Introduction: Multicenter surveillance has been carried out on maternal near-miss in the hospitals with sentinel units. Near-miss is recognized as the predictor of level of care and maternal death. Reducing maternal mortality ratio is one of the challenges to achieve Millennium Development Goal. Objective was to determine the frequency and the nature of near-miss (severe acute maternal morbidity events and analysis of near-miss morbidities among pregnant women. Methods: Prospective surveillance was done for a year in 2012 in nine hospitals in Kathmandu valley. Cases eligible by definition recorded as a census based on WHO near-miss guideline. Similar questionnaire and dummy tables were used to present the result by non-inferential statistics. Results: Out of 157 cases identified with near-miss rate of 3.8, severe complications were PPH (40% and preeclampsia-eclampsia (17%. Blood transfusion (65%, ICU admission (54% and surgery (32% were the common critical intervention. Oxytocin was the main uterotonic used both prophylactically (86% and therapeutically (76%, and 19% arrived health facility after delivery or abortion. MgSO4 was used in all cases of eclampsia. All of the laparotomies were performed within 3 hours of arrival. Near-miss to mortality ratio was 6:1 and MMR 62. Conclusions: Study result yields similar pattern amongst developing countries and same near-miss conditions as the causes of maternal death reported by national statistics. Process indicators qualify the recommended standard of care. The near-miss event can be used as a surrogate marker of maternal death and a window for system level intervention. Keywords: abortion, eclampsia, hemorrhage, near-miss, surveillance

  9. The Mystery of the Missing Antimatter

    CERN Document Server

    Quinn, Helen R

    2008-01-01

    In the first fractions of a second after the Big Bang lingers a question at the heart of our very existence: why does the universe contain matter but almost no antimatter? The laws of physics tell us that equal amounts of matter and antimatter were produced in the early universe--but then, something odd happened. Matter won out over antimatter; had it not, the universe today would be dark and barren. But how and when did this occur? Helen Quinn and Yossi Nir guide readers into the very heart of this mystery--and along the way offer an exhilarating grand tour of cutting-edge physics. They explain both the history of antimatter and recent advances in particle physics and cosmology. And they discuss the enormous, high-precision experiments that particle physicists are undertaking to test the laws of physics at their most fundamental levels--and how their results reveal tantalizing new possibilities for solving this puzzle at the heart of the cosmos. The Mystery of the Missing Antimatter is at once a history of i...

  10. Why is microcalcification missed on mammography?

    International Nuclear Information System (INIS)

    Peters, Gudrun; Jones, Catherine M.; Daniels, Katie

    2013-01-01

    Ductal carcinoma in situ (DCIS) is often only mammographically evident as microcalcification. Although the overall percentage of screening cases with histologically proven DCIS microcalcification is small, the clinical relevance of missing this finding is significant. The current guidelines in Australia for breast screening departments are for double reading of mammograms to reduce both perceptive and interpretative error. This retrospective study identified patients from a state screening program with histologically proven DCIS whose mammograms showed microcalcification. The initial double reader results were documented according to the 5-point grading scale of BreastScreen Tasmania, and discrepancies between readers were noted. Mammographic factors such as breast density, lesion location, morphology, distribution, size and presence on previous imaging were assessed for significant influence on inter-reader discrepancy. Histological evidence of invasion and grade of malignancy were also analysed. Of 65 identified cases, 29 (45%) showed that one of the two readers had not flagged the microcalcification on the report. Analyses revealed no significant difference in reader discrepancy with any of the analysed factors including breast density, size of microcalcification or presence on previous imaging. Twenty-five of 29 (86%) cases of discrepancy were perceptive. Breast screening reading for microcalcification is poorly correlated to mammographic or histological features. The majority of errors were perceptive rather than interpretative. Double reading is advocated as standard practice to reduce perceptive error.

  11. Search for missing baryons through scintillation

    International Nuclear Information System (INIS)

    Habibi, F.

    2011-06-01

    Cool molecular hydrogen H 2 may be the ultimate possible constituent to the Milky-Way missing baryon. We describe a new way to search for such transparent matter in the Galactic disc and halo, through the diffractive and refractive effects on the light of background stars. By simulating the phase delay induced by a turbulent medium, we computed the corresponding illumination pattern on the earth for an extended source and a given passband. We show that in favorable cases, the light of a background star can be subjected to stochastic fluctuations of the order of a few percent at a characteristic time scale of a few minutes. We have searched for scintillation induced by molecular gas in visible dark nebulae as well as by hypothetical halo clumpuscules of cool molecular hydrogen (H 2 -He) during two nights, using the NTT telescope and the IR SOFI detector. Amongst a few thousands of monitored stars, we found one light-curve that is compatible with a strong scintillation effect through a turbulent structure in the B68 nebula. Because no candidate were found toward the SMC (Small Magellan Cloud), we are able to establish upper limits on the contribution of gas clumpuscules to the Galactic halo mass. We show that the short time-scale monitoring of a few 10 6 star*hour in the visible band with a >4 m telescope and a fast readout camera should allow one to interestingly quantify or constrain the contribution of turbulent molecular gas to the Galactic halo. (author)

  12. Paediatrics and psychoanalysis--Miss Anna Freud.

    Science.gov (United States)

    1983-01-01

    Miss Anna Freud died during the winter at the age of 86. She had been a pioneer in the understanding of children through psychoanalysis and a great champion of the rights of children. Her life began in Vienna as the youngest child of Sigmund Freud, and her early work with children was in Austria. In 1938, because of the Nazi régime and even though she was nursing her father during his terminal illness, she had to escape with him to London. Her work with homeless children and with those in residential nurseries in London during the second world war is well known, as is her work on child development and psychopathology in the postwar years. But one less well known aspect of her life that was of immense importance to a few fortunate British paediatricians was the 'paediatric group' that she ran for over a quarter of a century and which Dr Christine Cooper recalled at the memorial meeting in London earlier this year. PMID:6344806

  13. Tumor evasion from immune control: Strategies of a MISS to become a MASS

    Energy Technology Data Exchange (ETDEWEB)

    D' Onofrio, Alberto [Department of Epidemiology and Biostatistics, European Institute of Oncology, Via Ripamonti 435, I-20141 Milan (Italy)]. E-mail: alberto.d' onofrio@ieo.it

    2007-01-15

    We biologically describe the phenomenon of the evasion of tumors from immune surveillance where tumor cells, initially constrained to exist in a microscopic steady state (MISS) elaborate strategies to evade from the immune control and to reach a macroscopic steady state (MASS). We, then, describe 'evasion' as a long term loss of equilibrium in a framework of prey-predator-like models with adiabatic varying parameters, whose changes reflect the evolutionary adaptation of the tumor in a 'hostile' environment by means of the elaboration of new strategies of survival. Similarities and differences between the present work and the interesting seminal paper [Kuznetsov VA, Knott GD. Modeling tumor regrowth and immunotherapy. Math Comput Model 2001;33:1275-87] are discussed. We also propose and study a model of clonal resistance to the immune control with slowly varying adaptive mutation parameter.

  14. Tumor evasion from immune control: Strategies of a MISS to become a MASS

    International Nuclear Information System (INIS)

    D'Onofrio, Alberto

    2007-01-01

    We biologically describe the phenomenon of the evasion of tumors from immune surveillance where tumor cells, initially constrained to exist in a microscopic steady state (MISS) elaborate strategies to evade from the immune control and to reach a macroscopic steady state (MASS). We, then, describe 'evasion' as a long term loss of equilibrium in a framework of prey-predator-like models with adiabatic varying parameters, whose changes reflect the evolutionary adaptation of the tumor in a 'hostile' environment by means of the elaboration of new strategies of survival. Similarities and differences between the present work and the interesting seminal paper [Kuznetsov VA, Knott GD. Modeling tumor regrowth and immunotherapy. Math Comput Model 2001;33:1275-87] are discussed. We also propose and study a model of clonal resistance to the immune control with slowly varying adaptive mutation parameter

  15. Reduction of artefacts due to missing projections using OSEM

    International Nuclear Information System (INIS)

    Hutton, B.F.; Kyme, A.; Choong, K.

    2002-01-01

    Full text: It is well recognised that missing or corrupted projections can result in artefacts. This occasionally occurs due to errors in data transfer from acquisition memory to disk. A possible approach for reducing these artefacts was investigated, Using ordered subsets expectation maximization (OSEM) the iterative reconstruction proceeds by progressively including additional projections until a single iteration is complete. Clinically useful results can be obtained using a small subset size in a single iteration. Stopping prior to the complete iteration so as to avoid inclusion of missing or corrupted data should provide a 'partial' reconstruction with minimal artefacts. To test this hypothesis projections were selectively removed from a complete data set (2, 4, 8, 12 adjacent projections) and reconstructions were performed using both filtered back projection (FBP) and OSEM. To maintain a constant number of sub-iterations in OSEM an equal number of duplicate projections were substituted for the missing projections. Both 180 and 360 degrees reconstructions with missing data were compared with reconstruction for the complete data using sum of absolute differences. Results indicate that missing data causes artefacts for both FBP and OSEM however the severity of artefacts is significantly reduced using OSEM. The effect of missing data is generally greater for 180 degrees acquisition. OSEM is recommended for minimising reconstruction artefacts due to missing projections. Copyright (2002) The Australian and New Zealand Society of Nuclear Medicine Inc

  16. Recurrent Neural Networks for Multivariate Time Series with Missing Values.

    Science.gov (United States)

    Che, Zhengping; Purushotham, Sanjay; Cho, Kyunghyun; Sontag, David; Liu, Yan

    2018-04-17

    Multivariate time series data in practical applications, such as health care, geoscience, and biology, are characterized by a variety of missing values. In time series prediction and other related tasks, it has been noted that missing values and their missing patterns are often correlated with the target labels, a.k.a., informative missingness. There is very limited work on exploiting the missing patterns for effective imputation and improving prediction performance. In this paper, we develop novel deep learning models, namely GRU-D, as one of the early attempts. GRU-D is based on Gated Recurrent Unit (GRU), a state-of-the-art recurrent neural network. It takes two representations of missing patterns, i.e., masking and time interval, and effectively incorporates them into a deep model architecture so that it not only captures the long-term temporal dependencies in time series, but also utilizes the missing patterns to achieve better prediction results. Experiments of time series classification tasks on real-world clinical datasets (MIMIC-III, PhysioNet) and synthetic datasets demonstrate that our models achieve state-of-the-art performance and provide useful insights for better understanding and utilization of missing values in time series analysis.

  17. Geochemical modelling: what phenomena are missing

    International Nuclear Information System (INIS)

    Jacquier, P.

    1989-12-01

    In the framework of safety assessment of radioactive waste disposal, retention phenomena are usually taken into account by the Kd concept. It is well recognized that this concept is not enough for safety assessment models, because of the several and strong assumptions which are involved in this kind of representation. One way to have a better representation of the retention phenomena, is to substitute for this Kd concept an explicit description of geochemical phenomena and then couple transport codes with geochemical codes in a fully or a two-step procedure. We use currently such codes, but the scope of this paper is to display the limits today of the geochemical modelling in connection with sites analysis for deep disposal. In this paper, we intend to give an overview of phenomena which are missing in the geochemical models, or which are not completely introduced in the models. We can distinguish, on one hand phenomena for which modelling concepts exist such as adsorption/desorption and, on the other hand, phenomena for which modelling concepts do not exist for the moment such as colloids, and complexation by polyelectrolyte solutions (organics). Moreover we have to take care of very low concentrations of radionuclides, which can be expected from the leaching processes in the repository. Under those conditions, some reactions may not occur. After a critical review of the involved phenomena, we intend to stress the main directions of the wishful evolution of the geochemical modelling. This evolution should improve substantially the quality of the above-mentioned site assessments

  18. China's "missing girls": prospects and policy.

    Science.gov (United States)

    Riley, N E

    1996-02-01

    Women's conditions in China are viewed as deteriorating. The reduction in government control over urban factories and other places of employment has resulted in fewer women being hired. This leaves women in positions with low wages, poor working conditions, and discrimination based on sex, age, and marital status. The shift from rural state-controlled agricultural collectives to patriarchal family controls resulted in land distribution that gave men preference. The rapid growth in the economy and higher standards of living placed women at risk. Although the pressures to kill girl babies have relaxed, there is growing interest in making money from abducting and selling women for prostitution, marriage, and slavery. Women gained in recent decades greater participation in the labor force and higher educational levels. Women's access to health care is better. Female life expectancy is 72 years compared to 69 years for men. Maternal mortality is 95 deaths per 100,000 live births. Yet women hold subordinate positions to men in their jobs, and women are segregated in the textile and service industries. Women in rural areas have primarily access to agricultural jobs, which can be combined with child care. Women are less likely to be promoted and are retired 5 years earlier than men. Women carry a double burden of domestic labor and paid or unpaid labor. Women still have higher illiteracy rates than men, and the gender gap in higher education has remained stable since the 1970s. The imbalanced sex ratio is increasing. In some provinces it is 114 males for every 100 females, when the normal ratio is 105-106 males per 100 females. An estimated 12% of females are unaccounted for each year. The reasons for the missing children are identified as sex-selective abortion, infanticide, or underreporting. The next five-year plan holds the hope for improvement in women's status and an end to abuses against women and children.

  19. The Mysterious Case of the Missing Filaments

    Science.gov (United States)

    Alden, C. R.

    2016-12-01

    Coronal Mass Ejections, or CMEs, are large solar eruptions that can have major debilitating impacts on society. Typically, these eruptions have the three following key structures: the leading edge, the empty chamber known as the cavity, and the filament which often is the brightest part of the CME. When we can see all three structures clearly with a coronagraph, it is called a classic three-part CME, also referred to as a 'lightbulb' CME. According to current knowledge, when a CME erupts, a filament should also erupt or lift off the Sun in order to have the bright center within the CME. However, we do not always see a filament erupt at the surface, and yet we still get a 'filament' within the coronagraph CME. To better understand what might be occurring with these missing filaments, we looked at three-part CMEs using the SOHO LASCO CME Catalog and filaments from the SDO AIA Filament Catalog in order to create a list of 50 CMEs without a listed filament erupting at the surface. For those CMEs without filaments in the list we closely inspected the AIA images for evidence of filament eruption. To ensure that there were no filaments past the limb of the Sun, we used data from the STEREO-A and STEREO-B spacecraft's to look at the Sun from other angles. We have found numerous events where no filament erupts from the surface, but we still see the classic three-part CME. We believe this may be due to an optical illusion occurring from the twisting of the flux rope.

  20. Population genetic testing for cancer susceptibility: founder mutations to genomes.

    Science.gov (United States)

    Foulkes, William D; Knoppers, Bartha Maria; Turnbull, Clare

    2016-01-01

    The current standard model for identifying carriers of high-risk mutations in cancer-susceptibility genes (CSGs) generally involves a process that is not amenable to population-based testing: access to genetic tests is typically regulated by health-care providers on the basis of a labour-intensive assessment of an individual's personal and family history of cancer, with face-to-face genetic counselling performed before mutation testing. Several studies have shown that application of these selection criteria results in a substantial proportion of mutation carriers being missed. Population-based genetic testing has been proposed as an alternative approach to determining cancer susceptibility, and aims for a more-comprehensive detection of mutation carriers. Herein, we review the existing data on population-based genetic testing, and consider some of the barriers, pitfalls, and challenges related to the possible expansion of this approach. We consider mechanisms by which population-based genetic testing for cancer susceptibility could be delivered, and suggest how such genetic testing might be integrated into existing and emerging health-care structures. The existing models of genetic testing (including issues relating to informed consent) will very likely require considerable alteration if the potential benefits of population-based genetic testing are to be fully realized.

  1. Mutation breeding in pepper

    Energy Technology Data Exchange (ETDEWEB)

    Daskalov, S [Plant Breeding Unit, Joint FAO/IAEA Division of Isotope and Radiation Applications of Atomic Energy for Food and Agricultural Development, Seibersdorf Laboratory, International Atomic Energy Agency, Vienna (Austria)

    1986-03-01

    Pepper (Capsicum sp.) is an important vegetable and spice crop widely grown in tropical as well as in temperate regions. Until recently the improvement programmes were based mainly on using natural sources of germ plasma, crossbreeding and exploiting the heterosis of F{sub 1} hybrids. However, interest in using induced mutations is growing. A great number of agronomically useful mutants as well as mutants valuable for genetic, cytological and physiological studies have been induced and described. In this review information is presented about suitable mutagen treatment procedures with radiation as well as chemicals, M{sub 1} effects, handling the treated material in M{sub 1}, M{sub 2} and subsequent generations, and mutant screening procedures. This is supplemented by a description of reported useful mutants and released cultivars. Finally, general advice is given on when and how to incorporate mutation induction in Capsicum improvement programmes. (author)

  2. Mutation breeding in pepper

    International Nuclear Information System (INIS)

    Daskalov, S.

    1986-01-01

    Pepper (Capsicum sp.) is an important vegetable and spice crop widely grown in tropical as well as in temperate regions. Until recently the improvement programmes were based mainly on using natural sources of germ plasma, crossbreeding and exploiting the heterosis of F 1 hybrids. However, interest in using induced mutations is growing. A great number of agronomically useful mutants as well as mutants valuable for genetic, cytological and physiological studies have been induced and described. In this review information is presented about suitable mutagen treatment procedures with radiation as well as chemicals, M 1 effects, handling the treated material in M 1 , M 2 and subsequent generations, and mutant screening procedures. This is supplemented by a description of reported useful mutants and released cultivars. Finally, general advice is given on when and how to incorporate mutation induction in Capsicum improvement programmes. (author)

  3. Maternal near-miss: a multicenter surveillance in Kathmandu Valley.

    Science.gov (United States)

    Rana, Ashma; Baral, Gehanath; Dangal, Ganesh

    2013-01-01

    Multicenter surveillance has been carried out on maternal near-miss in the hospitals with sentinel units. Near-miss is recognized as the predictor of level of care and maternal death. Reducing Maternal Mortality Ratio is one of the challenges to achieve Millennium Development Goal. The objective was to determine the frequency and the nature of near-miss events and to analyze the near-miss morbidities among pregnant women. A prospective surveillance was done for a year in 2012 at nine hospitals in Kathmandu valley. Cases eligible by definition were recorded as a census based on WHO near-miss guideline. Similar questionnaires and dummy tables were used to present the results by non-inferential statistics. Out of 157 cases identified with near-miss rate of 3.8 per 1000 live births, severe complications were postpartum hemorrhage 62 (40%) and preeclampsia-eclampsia 25 (17%). Blood transfusion 102 (65%), ICU admission 85 (54%) and surgery 53 (32%) were common critical interventions. Oxytocin was main uterotonic used both prophylactically and therapeutically at health facilities. Total of 30 (19%) cases arrived at health facility after delivery or abortion. MgSO4 was used in all cases of eclampsia. All laparotomies were performed within three hours of arrival. Near-miss to maternal death ratio was 6:1 and MMR was 62. Study result yielded similar pattern amongst developing countries and same near-miss conditions as the causes of maternal death reported by national statistics. Process indicators qualified the recommended standard of care. The near-miss event could be used as a surrogate marker of maternal death and a window for system level intervention.

  4. Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

    Science.gov (United States)

    Kimberling, William J

    2005-11-01

    The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of mutation detection is imperfect and mutations are often missed. This can be especially troublesome when dealing with a recessive disorder where the combination of genetic heterogeneity and missed mutation creates an imprecision in the genotypic assessment of individuals who do not appear to have the expected complement of two pathologic mutations. This article describes a statistical approach to the estimation of the likelihood of a genetic diagnosis under these conditions. In addition to providing a means of testing for missed mutations, it also provides a method of estimating and testing for the presence of genetic heterogeneity in the absence of linkage data. Gene frequencies as well as estimates of sensitivity and specificity can be obtained as well. The test is applied to GJB2 recessive nonsyndromic deafness, Usher syndrome types Ib and IIa, and Pendred-enlarged vestibular aqueduct syndrome. Copyright 2005 Wiley-Liss, Inc.

  5. Missing and Spurious Level Corrections for Nuclear Resonances

    International Nuclear Information System (INIS)

    Mitchell, G E; Agvaanluvsan, U; Pato, M P; Shriner, J F

    2005-01-01

    Neutron and proton resonances provide detailed level density information. However, due to experimental limitations, some levels are missed and some are assigned incorrect quantum numbers. The standard method to correct for missing levels uses the experimental widths and the Porter-Thomas distribution. Analysis of the spacing distribution provides an independent determination of the fraction of missing levels. We have derived a general expression for such an imperfect spacing distribution using the maximum entropy principle and applied it to a variety of nuclear resonance data. The problem of spurious levels has not been extensively addressed

  6. Topology-Based Estimation of Missing Smart Meter Readings

    Directory of Open Access Journals (Sweden)

    Daisuke Kodaira

    2018-01-01

    Full Text Available Smart meters often fail to measure or transmit the data they record when measuring energy consumption, known as meter readings, owing to faulty measuring equipment or unreliable communication modules. Existing studies do not address successive and non-periodical missing meter readings. This paper proposes a method whereby missing readings observed at a node are estimated by using circuit theory principles that leverage the voltage and current data from adjacent nodes. A case study is used to demonstrate the ability of the proposed method to successfully estimate the missing readings over an entire day during which outages and unpredictable perturbations occurred.

  7. Mutated hilltop inflation revisited

    Science.gov (United States)

    Pal, Barun Kumar

    2018-05-01

    In this work we re-investigate pros and cons of mutated hilltop inflation. Applying Hamilton-Jacobi formalism we solve inflationary dynamics and find that inflation goes on along the {W}_{-1} branch of the Lambert function. Depending on the model parameter mutated hilltop model renders two types of inflationary solutions: one corresponds to small inflaton excursion during observable inflation and the other describes large field inflation. The inflationary observables from curvature perturbation are in tune with the current data for a wide range of the model parameter. The small field branch predicts negligible amount of tensor to scalar ratio r˜ O(10^{-4}), while the large field sector is capable of generating high amplitude for tensor perturbations, r˜ O(10^{-1}). Also, the spectral index is almost independent of the model parameter along with a very small negative amount of scalar running. Finally we find that the mutated hilltop inflation closely resembles the α -attractor class of inflationary models in the limit of α φ ≫ 1.

  8. Mutation breeding in jute

    International Nuclear Information System (INIS)

    Joshua, D.C.

    1980-01-01

    Mutagenic studies in jute in general dealt with the morphological abnormalities of the M 1 generation in great detail. Of late, induction of a wide spectrum of viable mutations have been reported in different varieties of both the species. Mutations affecting several traits of agronomic importance such as, plant height, time of flowering, fibre yield and quality, resistance to pests and diseases are also available. Cytological analysis of a large collection of induced mutants resulted in the isolation of seven trisomics in an olitorius variety. Several anatomical parameters which are the components of fibre yield, have also received attention. Some mutants with completely altered morphology were used for interpreting the evolution of leaf shape in Tiliaceas and related families. A capsularis variety developed using mutation breeding technique has been released for cultivation. Several others, including derivatives of inter-mutant hybridization have been found to perform well at different locations in the All India Coordinated Trials. Presently, chemical mutagenesis and induction of mutants of physiological significance are receiving considerable attention. The induced variability is being used in genetic and linkage studies. (author)

  9. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

    Science.gov (United States)

    Malmgren, B; Andersson, K; Lindahl, K; Kindmark, A; Grigelioniene, G; Zachariadis, V; Dahllöf, G; Åström, E

    2017-01-01

    Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). Tooth agenesis is a common feature of OI. We investigated the association between tooth agenesis and collagen type I mutations in individuals with OI. In this cohort study, 128 unrelated individuals with OI were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (DGI) and congenitally missing teeth. The collagen I genes were sequenced in all individuals, and in 25, multiplex ligation-dependent probe amplification was performed. Mutations in the COL1A1 and COL1A2 genes were found in 104 of 128 individuals. Tooth agenesis was diagnosed in 17% (hypodontia 11%, oligodontia 6%) and was more frequent in those with DGI (P = 0.016), and in those with OI type III, 47%, compared to those with OI types I, 12% (P = 0.003), and IV, 13% (P = 0.017). Seventy-five percent of the individuals with oligodontia (≥6 missing teeth) had qualitative mutations, but there was no association with OI type, gender, or presence of DGI. The prevalence of tooth agenesis is high (17%) in individuals with OI, and OI caused by a qualitative collagen I mutation is associated with oligodontia. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Calreticulin Mutations in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Noa Lavi

    2014-10-01

    Full Text Available With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph− myeloproliferative neoplasms (MPNs in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (ET and primary myelofibrosis (PMF. At the end of 2013, two studies identified recurrent mutations in the gene encoding calreticulin (CALR using whole-exome sequencing. These mutations were revealed in the majority of ET and PMF patients with non-mutated JAK2 or MPL but not in polycythemia vera patients. Somatic 52-bp deletions (type 1 mutations and recurrent 5-bp insertions (type 2 mutations in exon 9 of the CALR gene (the last exon encoding the C-terminal amino acids of the protein calreticulin were detected and found always to generate frameshift mutations. All detected mutant calreticulin proteins shared a novel amino acid sequence at the C-terminal. Mutations in CALR are acquired early in the clonal history of the disease, and they cause activation of JAK/STAT signaling. The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF. The characteristics of the CALR mutations as well as their diagnostic, clinical, and pathogenesis implications are discussed in this review.

  11. ErythropoieSIS stimulating agent (ESA use is increased following missed dialysis sessions

    Directory of Open Access Journals (Sweden)

    T. Christopher Bond

    2012-06-01

    Missed session episodes result in significant increases in ESA utilization in the post-miss period, and also in total monthly ESA use. Such increases should be considered in any assessment of impact of missed sessions: both clinical and economic.

  12. Reducing Misses and Near Misses Related to Multitasking on the Electronic Health Record: Observational Study and Qualitative Analysis.

    Science.gov (United States)

    Ratanawongsa, Neda; Matta, George Y; Bohsali, Fuad B; Chisolm, Margaret S

    2018-02-06

    Clinicians' use of electronic health record (EHR) systems while multitasking may increase the risk of making errors, but silent EHR system use may lower patient satisfaction. Delaying EHR system use until after patient visits may increase clinicians' EHR workload, stress, and burnout. We aimed to describe the perspectives of clinicians, educators, administrators, and researchers about misses and near misses that they felt were related to clinician multitasking while using EHR systems. This observational study was a thematic analysis of perspectives elicited from 63 continuing medical education (CME) participants during 2 workshops and 1 interactive lecture about challenges and strategies for relationship-centered communication during clinician EHR system use. The workshop elicited reflection about memorable times when multitasking EHR use was associated with "misses" (errors that were not caught at the time) or "near misses" (mistakes that were caught before leading to errors). We conducted qualitative analysis using an editing analysis style to identify codes and then select representative themes and quotes. All workshop participants shared stories of misses or near misses in EHR system ordering and documentation or patient-clinician communication, wondering about "misses we don't even know about." Risk factors included the computer's position, EHR system usability, note content and style, information overload, problematic workflows, systems issues, and provider and patient communication behaviors and expectations. Strategies to reduce multitasking EHR system misses included clinician transparency when needing silent EHR system use (eg, for prescribing), narrating EHR system use, patient activation during EHR system use, adapting visit organization and workflow, improving EHR system design, and improving team support and systems. CME participants shared numerous stories of errors and near misses in EHR tasks and communication that they felt related to EHR

  13. Detection of MPL exon10 mutations in 103 Chinese patients with JAK2V617F-negative myeloproliferative neoplasms.

    Science.gov (United States)

    Chen, Xiuhua; Qi, Xiling; Tan, Yanhong; Xu, Zhifang; Xu, Aining; Zhang, Linlin; Wang, Hongwei

    2011-06-15

    JAK2V617F mutation has been reported in 90% of patients with polycythemia vera (PV) and about 50% of patients with essential thromobocythemia (ET) and primary myelofibrosis (PMF). Recently, acquired mutations in the transmembrane-juxtamembrane region of MPL (MPLW515 mutations) have been reported in approximately 5% of JAK2V617F-negative PMF and about 1% of all cases of ET. MPL is the receptor for thrombopoietin that regulates the production of platelets by bone marrow. It is likely that some mutations more closely related to ET in MPL exon10 may have been missed by current assays. We inferred that there might be other mutations in MPL exon10 for MPN patients in addition to MPLW515 mutations. To investigate its mutation types and prevalence in Chinese patients with myeloproliferative neoplasms (MPN), we performed mutation detection on MPL exon10 in 103 JAK2V617F-negative MPN patients by single strand conformation polymorphism (SSCP) and allele-specific PCR (AS-PCR) combined with sequencing. As a result, one previously unrecognized MPL mutation (12-bp in-frame insertion) was identified in one patient with ET in addition to an MPLW515K mutation identified in one PMF patient. This confirms our hypothesis that BCR/ABL negative and JAK2V617F-negative MPN patients have other mutations besides W515 mutation in MPL exon10 and mutations other than single nucleotide exchange also exist. In addition, MPL mutation was associated with Chinese MPN patients. Copyright © 2011 Elsevier Inc. All rights reserved.

  14. DWARF GALAXY CLUSTERING AND MISSING SATELLITES

    International Nuclear Information System (INIS)

    Carlberg, R. G.; Sullivan, M.; Le Borgne, D.

    2009-01-01

    At redshifts around 0.1 the Canada-France-Hawaii Telescope Legacy Survey Deep fields contain some 6 x 10 4 galaxies spanning the mass range from 10 5 to 10 12 M sun . We measure the stellar mass dependence of the two-point correlation using angular measurements to largely bypass the errors, approximately 0.02 in the median, of the photometric redshifts. Inverting the power-law fits with Limber's equation we find that the autocorrelation length increases from a very low 0.4 h -1 Mpc at 10 5.5 M sun to the conventional 4.5 h -1 Mpc at 10 10.5 M sun . The power-law fit to the correlation function has a slope which increases from γ ≅ 1.6 at high mass to γ ≅ 2.3 at low mass. The spatial cross-correlation of dwarf galaxies with more massive galaxies shows fairly similar trends, with a steeper radial dependence at low mass than predicted in numerical simulations of subhalos within galaxy halos. To examine the issue of 'missing satellites' we combine the cross-correlation measurements with our estimates of the low-mass galaxy number density. We find on the average there are 60 ± 20 dwarfs in subhalos with M(total)>10 7 M sun for a typical Local Group M(total)/M(stars) = 30, corresponding to M/L V ≅ 100 for a galaxy with no recent star formation. The number of dwarfs per galaxy is about a factor of 2 larger than currently found for the Milky Way. Nevertheless, the average dwarf counts are about a factor of 30 below lambda cold dark matter (LCDM) simulation results. The divergence from LCDM predictions is one of the slope of the relation, approximately dN/dln M ≅ -0.5 rather than the predicted -0.9, not sudden onset at some characteristic scale. The dwarf galaxy star formation rates span the range from passive to bursting, which suggests that there are few completely dark halos.

  15. Near-miss maternal morbidity from severe haemorrhage at ...

    African Journals Online (AJOL)

    ... at caesarean section: A process and structure audit of system deficiencies in South Africa. ... The Donabedian model assumes that clinical outcomes are influenced by ... Dominant risk factors for near misses were previous caesarean section ...

  16. The role of proxy information in missing data analysis.

    Science.gov (United States)

    Huang, Rong; Liang, Yuanyuan; Carrière, K C

    2005-10-01

    This article investigates the role of proxy data in dealing with the common problem of missing data in clinical trials using repeated measures designs. In an effort to avoid the missing data situation, some proxy information can be gathered. The question is how to treat proxy information, that is, is it always better to utilize proxy information when there are missing data? A model for repeated measures data with missing values is considered and a strategy for utilizing proxy information is developed. Then, simulations are used to compare the power of a test using proxy to simply utilizing all available data. It is concluded that using proxy information can be a useful alternative when such information is available. The implications for various clinical designs are also considered and a data collection strategy for efficiently estimating parameters is suggested.

  17. ATLAS event featuring two charm jets and missing energy

    CERN Multimedia

    ATLAS Collaboration

    2012-01-01

    Proton collision event in the ATLAS detector featuring two tagged charm jets and missing transverse energy. The zoomed view in the bottom right panel shows a displaced vertex of one of the c-tagged jets (marked in blue).

  18. Missing Links: Gender Equity in Science and Technology for ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Missing Links: Gender Equity in Science and Technology for Development. Book cover ... Gender Working Group of the United Nations Commission on Science and Technology for Development. Publisher(s): ... Knowledge. Innovation.

  19. 40 CFR 98.55 - Procedures for estimating missing data.

    Science.gov (United States)

    2010-07-01

    ... accounting purposes (such as sales records). (b) For missing values related to the performance test, including emission factors, production rate, and N2O concentration, you must conduct a new performance test...

  20. 40 CFR 98.225 - Procedures for estimating missing data.

    Science.gov (United States)

    2010-07-01

    ... accounting purposes (such as sales records). (b) For missing values related to the performance test, including emission factors, production rate, and N2O concentration, you must conduct a new performance test...

  1. Prevalence and Correlates of Missed First Appointments among ...

    African Journals Online (AJOL)

    quality of care, results in poor treatment outcomes and drains financial resources. In Nigeria, where mental .... and physical aggression. Each subscale has four .... missed first appointments observed in this study falls within the range of 17 and ...

  2. Missed injury – decreasing morbidity and mortality: A literature review

    African Journals Online (AJOL)

    Advanced Trauma Life Support®), although they may also be inju- ries identified after a defined .... highly recommended for practice quality assurance. ... when injuries are missed, continuous audit is essential in prevent- ing repeated errors!

  3. Estimating range of influence in case of missing spatial data

    DEFF Research Database (Denmark)

    Bihrmann, Kristine; Ersbøll, Annette Kjær

    2015-01-01

    BACKGROUND: The range of influence refers to the average distance between locations at which the observed outcome is no longer correlated. In many studies, missing data occur and a popular tool for handling missing data is multiple imputation. The objective of this study was to investigate how...... the estimated range of influence is affected when 1) the outcome is only observed at some of a given set of locations, and 2) multiple imputation is used to impute the outcome at the non-observed locations. METHODS: The study was based on the simulation of missing outcomes in a complete data set. The range...... of influence was estimated from a logistic regression model with a spatially structured random effect, modelled by a Gaussian field. Results were evaluated by comparing estimates obtained from complete, missing, and imputed data. RESULTS: In most simulation scenarios, the range estimates were consistent...

  4. Computerized Analysis and Detection of Missed Cancer in Screening Mammogram

    National Research Council Canada - National Science Library

    Li, Lihua

    2005-01-01

    This project is to explore an innovative CAD strategy for improving early detection of breast cancer in screening mammograms by focusing on computerized analysis and detection of cancers missed by radiologists...

  5. Computerized Analysis and Detection of Missed Cancer in Screening Mammogram

    National Research Council Canada - National Science Library

    Li, Lihua

    2004-01-01

    This project is to explore an innovative CAD strategy for improving early detection of breast cancer in screening mammograms by focusing on computerized analysis and detection of cancers missed by radiologists...

  6. Prevalence and Correlates of Missed First Appointments among ...

    African Journals Online (AJOL)

    In Nigeria, where mental health services are poorly organized, missed appointments and its resultant consequences may be burdensome. Aim: This ... However, having received previous treatment for a psychiatric illness (P = 0.02) and having ...

  7. missed opportunities for the diagnosis of pulmonary tuberculosis

    African Journals Online (AJOL)

    User

    MISSED OPPORTUNITIES FOR THE DIAGNOSIS OF. PULMONARY .... Data analysis. Data were pooled across all sites for analysis. .... tecting 70% of new smear positive cases by. 2005 (case ... False negative is one big factor with smear ...

  8. Maternal near-miss in a rural hospital in Sudan

    Directory of Open Access Journals (Sweden)

    Adam Gamal K

    2011-06-01

    Full Text Available Abstract Background Investigation of maternal near-miss is a useful complement to the investigation of maternal mortality with the aim of meeting the United Nations' fifth Millennium Development Goal. The present study was conducted to investigate the frequency of near-miss events, to calculate the mortality index for each event and to compare the socio-demographic and obstetrical data (age, parity, gestational age, education and antenatal care of the near-miss cases with maternal deaths. Methods Near-miss cases and events (hemorrhage, infection, hypertensive disorders, anemia and dystocia, maternal deaths and their causes were retrospectively reviewed and the mortality index for each event was calculated in Kassala Hospital, eastern Sudan over a 2-year period, from January 2008 to December 2010. Disease-specific criteria were applied for these events. Results There were 9578 deliveries, 205 near-miss cases, 228 near-miss events and 40 maternal deaths. Maternal near-miss and maternal mortality ratio were 22.1/1000 live births and 432/100 000 live births, respectively. Hemorrhage accounted for the most common event (40.8%, followed by infection (21.5%, hypertensive disorders (18.0%, anemia (11.8% and dystocia (7.9%. The mortality index were 22.2%, 10.0%, 10.0%, 8.8% and 2.4% for infection, dystocia, anemia, hemorrhage and hypertensive disorders, respectively. Conclusion There is a high frequency of maternal morbidity and mortality at the level of this facility. Therefore maternal health policy needs to be concerned not only with averting the loss of life, but also with preventing or ameliorating maternal-near miss events (hemorrhage, infections, hypertension and anemia at all care levels including primary level.

  9. Diabetes or hypertension as risk indicators for missing teeth ...

    African Journals Online (AJOL)

    A negative binomial regression (NBR) model was generated. Results: Mean age was 50.7 ± 16.2 and 50.0% were women. Mean number of missing teeth was 4.98 ± 4.17. In the multivariate NBR model, we observed that individuals with T2DM had higher risk of more missing teeth (incidence rate ratios [IRRs] = 3.13; 95% ...

  10. Exoatmospheric intercepts using zero effort miss steering for midcourse guidance

    Science.gov (United States)

    Newman, Brett

    The suitability of proportional navigation, or an equivalent zero effort miss formulation, for exatmospheric intercepts during midcourse guidance, followed by a ballistic coast to the endgame, is addressed. The problem is formulated in terms of relative motion in a general, three dimensional framework. The proposed guidance law for the commanded thrust vector orientation consists of the sum of two terms: (1) along the line of sight unit direction and (2) along the zero effort miss component perpendicular to the line of sight and proportional to the miss itself and a guidance gain. If the guidance law is to be suitable for longer range targeting applications with significant ballistic coasting after burnout, determination of the zero effort miss must account for the different gravitational accelerations experienced by each vehicle. The proposed miss determination techniques employ approximations for the true differential gravity effect and thus, are less accurate than a direct numerical propagation of the governing equations, but more accurate than a baseline determination, which assumes equal accelerations for both vehicles. Approximations considered are constant, linear, quadratic, and linearized inverse square models. Theoretical results are applied to a numerical engagement scenario and the resulting performance is evaluated in terms of the miss distances determined from nonlinear simulation.

  11. Spacecraft intercept guidance using zero effort miss steering

    Science.gov (United States)

    Newman, Brett

    The suitability of proportional navigation, or an equivalent zero effort miss formulation, for spacecraft intercepts during midcourse guidance, followed by a ballistic coast to the endgame, is addressed. The problem is formulated in terms of relative motion in a general 3D framework. The proposed guidance law for the commanded thrust vector orientation consists of the sum of two terms: (1) along the line of sight unit direction and (2) along the zero effort miss component perpendicular to the line of sight and proportional to the miss itself and a guidance gain. If the guidance law is to be suitable for longer range targeting applications with significant ballistic coasting after burnout, determination of the zero effort miss must account for the different gravitational accelerations experienced by each vehicle. The proposed miss determination techniques employ approximations for the true differential gravity effect. Theoretical results are applied to a numerical engagement scenario and the resulting performance is evaluated in terms of the miss distances determined from nonlinear simulation.

  12. Bayesian Sensitivity Analysis of Statistical Models with Missing Data.

    Science.gov (United States)

    Zhu, Hongtu; Ibrahim, Joseph G; Tang, Niansheng

    2014-04-01

    Methods for handling missing data depend strongly on the mechanism that generated the missing values, such as missing completely at random (MCAR) or missing at random (MAR), as well as other distributional and modeling assumptions at various stages. It is well known that the resulting estimates and tests may be sensitive to these assumptions as well as to outlying observations. In this paper, we introduce various perturbations to modeling assumptions and individual observations, and then develop a formal sensitivity analysis to assess these perturbations in the Bayesian analysis of statistical models with missing data. We develop a geometric framework, called the Bayesian perturbation manifold, to characterize the intrinsic structure of these perturbations. We propose several intrinsic influence measures to perform sensitivity analysis and quantify the effect of various perturbations to statistical models. We use the proposed sensitivity analysis procedure to systematically investigate the tenability of the non-ignorable missing at random (NMAR) assumption. Simulation studies are conducted to evaluate our methods, and a dataset is analyzed to illustrate the use of our diagnostic measures.

  13. Software for handling and replacement of missing data

    Directory of Open Access Journals (Sweden)

    Mayer, Benjamin

    2009-10-01

    Full Text Available In medical research missing values often arise in the course of a data analysis. This fact constitutes a problem for different reasons, so e.g. standard methods for analyzing data lead to biased estimates and a loss of statistical power due to missing values, since those methods require complete data sets and therefore omit incomplete cases for the analyses. Furthermore missing values imply a certain loss of information for what reason the validity of results of a study with missing values has to be rated less than in a case where all data had been available. For years there are methods for replacement of missing values (Rubin, Schafer to tackle these problems and solve them in parts. Hence in this article we want to present the existing software to handle and replace missing values on the one hand and give an outline about the available options to get information on the other hand. The methodological aspects of the replacement strategies are delineated just briefly in this article.

  14. Posttraumatic stress disorder in women with war missing family members.

    Science.gov (United States)

    Baraković, Devla; Avdibegović, Esmina; Sinanović, Osman

    2014-12-01

    Research in crisis areas indicate that survivors' responses to the forced disappearance of family members are similar to reactions to other traumatic events. The aim of this study was to determine the presence of symptoms of posttraumatic stress disorder (PTSD) in women with war missing family members in Bosnia and Herzegovina 18 years after the war in this region (1992-1995). The study included 160 women aged 47.1±14.0 from three regions of Bosnia and Herzegovina. It was carried out in the period from April 2010 to May 2011. Of the 160 participants, 120 women had a war missing family member and 40 women had no war missing family members. The Harvard Trauma Questionnaire (HTQ), the Beck Depression Inventory (BDI) and the Hamilton Anxiety Rating Scale (HAMA) were used for data collection. Basic socio-demographic data and data concerning the missing family members were also collected. Women with war missing family members experienced significantly more traumatic war experiences (18.43±5.27 vs 6.57±4.34, pfamily members. Women with war missing family members showed significantly more severe PTSD symptoms. Based on the results of this study, it was determined that the forced disappearance of a family member is an ambiguous situation that can be characterized as a traumatic experience.

  15. Dentistry to the rescue of missing children: A review

    Science.gov (United States)

    Vij, Nitika; Kochhar, Gulsheen Kaur; Chachra, Sanjay; Kaur, Taranjot

    2016-01-01

    Today's society is becoming increasingly unsafe for children: we frequently hear about new incidents of missing children, which lead to emotional trauma for the loved ones and expose systemic failures of law and order. Parents can take extra precautions to ensure the safety of their children by educating them about ways to protect themselves and keep important records of the child such as updated color photographs, fingerprints, deoxyribonucleic acid (DNA) samples, etc., handy. However, in spite of all efforts, the problem of missing children still remains. Developments in the field of dentistry have empowered dentists with various tools and techniques to play a pivotal role in tracing a missing child. One such tool is Toothprints, a patented arch-shaped thermoplastic dental impression wafer developed by Dr. David Tesini, a paediatric dentist from Massachusetts. Toothprints enables a unique identification of the missing children not only through the bite impression but also through salivary DNA. Besides the use of Toothprints, a dentist can assist investigating agencies in identifying the missing children in multiple ways, including postmortem dental profiling, labeled dental fixtures, DNA extraction from teeth, and serial number engraving on the children's teeth. More importantly, all these tools cause minimal inconvenience to the individual, making a dentist's role in tracking a missing child even more significant. Thus, the simple discipline of maintaining timely dental records with the help of their dentists can save potential hassles for the parents in the future. PMID:27051216

  16. Imputation of missing data in time series for air pollutants

    Science.gov (United States)

    Junger, W. L.; Ponce de Leon, A.

    2015-02-01

    Missing data are major concerns in epidemiological studies of the health effects of environmental air pollutants. This article presents an imputation-based method that is suitable for multivariate time series data, which uses the EM algorithm under the assumption of normal distribution. Different approaches are considered for filtering the temporal component. A simulation study was performed to assess validity and performance of proposed method in comparison with some frequently used methods. Simulations showed that when the amount of missing data was as low as 5%, the complete data analysis yielded satisfactory results regardless of the generating mechanism of the missing data, whereas the validity began to degenerate when the proportion of missing values exceeded 10%. The proposed imputation method exhibited good accuracy and precision in different settings with respect to the patterns of missing observations. Most of the imputations obtained valid results, even under missing not at random. The methods proposed in this study are implemented as a package called mtsdi for the statistical software system R.

  17. Dentistry to the rescue of missing children: A review.

    Science.gov (United States)

    Vij, Nitika; Kochhar, Gulsheen Kaur; Chachra, Sanjay; Kaur, Taranjot

    2016-01-01

    Today's society is becoming increasingly unsafe for children: we frequently hear about new incidents of missing children, which lead to emotional trauma for the loved ones and expose systemic failures of law and order. Parents can take extra precautions to ensure the safety of their children by educating them about ways to protect themselves and keep important records of the child such as updated color photographs, fingerprints, deoxyribonucleic acid (DNA) samples, etc., handy. However, in spite of all efforts, the problem of missing children still remains. Developments in the field of dentistry have empowered dentists with various tools and techniques to play a pivotal role in tracing a missing child. One such tool is Toothprints, a patented arch-shaped thermoplastic dental impression wafer developed by Dr. David Tesini, a paediatric dentist from Massachusetts. Toothprints enables a unique identification of the missing children not only through the bite impression but also through salivary DNA. Besides the use of Toothprints, a dentist can assist investigating agencies in identifying the missing children in multiple ways, including postmortem dental profiling, labeled dental fixtures, DNA extraction from teeth, and serial number engraving on the children's teeth. More importantly, all these tools cause minimal inconvenience to the individual, making a dentist's role in tracking a missing child even more significant. Thus, the simple discipline of maintaining timely dental records with the help of their dentists can save potential hassles for the parents in the future.

  18. Mutation breeding in chickpea

    International Nuclear Information System (INIS)

    2009-01-01

    Chickpea is an important food legume in Turkey. Turkey is one of the most important gene centers in the world for legumes. The most widely known characteristic of chickpea is that it is an important vegetable protein source used in human and animal nutrition. However, the dry grains of chickpea, has 2-3 times more protein than our traditional food of wheat. In addition, cheakpea is also energy source because of its high carbohydrate content. It is very rich in some vitamin and mineral basis. In the plant breeding, mutation induction has become an effective way of supplementing existing germplasm and improving cultivars. Many successful examples of mutation induction have proved that mutation breeding is an effective and important approach to food legume improvement. The induced mutation technique in chickpea has proved successful and good results have been attained. Realizing the potential of induced mutations, a mutation breeding programme was initiated at the Nuclear Agriculture Section of the Saraykoey Nuclear Research and Training Center in 1994. The purpose of the study was to obtain high yielding chickpea mutants with large seeds, good cooking quality and high protein content. Beside this some characters such as higher adaptation ability, tolerant to cold and drought, increased machinery harvest type, higher yield, resistant to diseases especially to antracnose and pest were investigated too. Parents varieties were ILC-482, AK-7114 and AKCIN-91 (9 % seed moisture content and germination percentage 98 %) in these experiments. The irradiation doses were 0 (control), 50, 100, 150, 200, 250, 300, 350, 400, 500 ve 600 Gy for greenhouse experiments and 0 (control), 50, 100, 150, 200, 250, 300, 350 ve 400 Gy for field experiments, respectively. One thousand seeds for per treatment were sown in the field for the M 1 . At maturity, 3500 single plants were harvested and 20 seeds were taken from each M 1 plant and planted in the following season. During plant growth

  19. Induced mutations in citrus

    International Nuclear Information System (INIS)

    Spiegel-Roy, P.; Vardi, Aliza

    1990-01-01

    Full text: Parthenocarpic tendency is an important prerequisite for successful induction of seedlessness in breeding and especially in mutation breeding. A gene for asynapsis and accompanying seedless fruit has been found by us in inbred progeny of cv. 'Wilking'. Using budwood irradiation by gamma rays, seedless mutants of 'Eureka' and 'Villafranca' lemon (original clone of the latter has 25 seeds) and 'Minneola' tangelo have been obtained. Ovule sterility of the three mutants is nearly complete, with some pollen fertility still remaining. A semi-compact mutant of Shamouti orange has been obtained by irradiation. A programme for inducing seedlessness in easy peeling citrus varieties and selections has been initiated. (author)

  20. Induced skeletal mutations

    International Nuclear Information System (INIS)

    Selby, P.B.

    1979-01-01

    This paper describes a large-scale experiment that, by means of breeding tests, confirmed that many dominant skeletal mutations are induced by large-dose radiation exposure. The author also discusses: (1) the major advantages and disadvantages of the skeletal method in improving estimates of genetic hazard to man; (2) future uses of the skeletal method; (3) direct estimation of risk beyond the first generation using the skeletal method; and (4) the possibility of using the skeletal method as a quick and easy screen for chemical mutagens

  1. Random mtDNA mutations modulate proliferation capacity in mouse embryonic fibroblasts

    International Nuclear Information System (INIS)

    Kukat, Alexandra; Edgar, Daniel; Bratic, Ivana; Maiti, Priyanka; Trifunovic, Aleksandra

    2011-01-01

    Highlights: → Increased mtDNA mutations in MEFs lead to high level of spontaneous immortalization. → This process is independent of endogenous ROS production. → Aerobic glycolysis significantly contributes to spontaneous immortalization of MEFs. -- Abstract: An increase in mtDNA mutation load leads to a loss of critical cells in different tissues thereby contributing to the physiological process of organismal ageing. Additionally, the accumulation of senescent cells that display changes in metabolic function might act in an active way to further disrupt the normal tissue function. We believe that this could be the important link missing in our understanding of the molecular mechanisms of premature ageing in the mtDNA mutator mice. We tested proliferation capacity of mtDNA mutator cells in vitro. When cultured in physiological levels of oxygen (3%) their proliferation capacity is somewhat lower than wild-type cells. Surprisingly, in conditions of increased oxidative stress (20% O 2 ) mtDNA mutator mouse embryonic fibroblasts exhibit continuous proliferation due to spontaneous immortalization, whereas the same conditions promote senescence in wild-type cells. We believe that an increase in aerobic glycolysis observed in mtDNA mutator mice is a major mechanism behind this process. We propose that glycolysis promotes proliferation and allows a fast turnover of metabolites, but also leads to energy crisis due to lower ATP production rate. This could lead to compromised replication and/or repair and therefore, in rare cases, might lead to mutations in tumor suppressor genes and spontaneous immortalization.

  2. Mutation Breeding Newsletter. No. 39

    International Nuclear Information System (INIS)

    1992-01-01

    This newsletter contains brief articles on the use of radiation to induce mutations in plants; radiation-induced mutants in Chrysanthemum; disrupting the association between oil and protein content in soybean seeds; mutation studies on bougainvillea; a new pepper cultivar; and the use of mutation induction to improve the quality of yam beans. A short review of the seminar on the use of mutation and related biotechnology for crop improvement in the Middle East and Mediterranean regions, and a description of a Co-ordinated Research Programme on the application of DNA-based marker mutations for the improvement of cereals and other sexually reproduced crop species are also included. Two tables are given: these are based on the ''FAO/IAEA Mutant Varieties Database'' and show the number of mutated varieties and the number of officially released mutant varieties in particular crops/species. Refs and tabs

  3. Governance or Governing – the Missing Link?

    Directory of Open Access Journals (Sweden)

    Luminiţa Maria Crăciun

    2010-07-01

    , of giving a sense of responsibility to the public and private sectors, of imposing, observing and materializing a real commitment for preventing and fighting corruption, the risk of which may be a threat to national security. Human governance creates a favorable environment for human development and elimination of poverty. If the preoccupations of the governance institutions are centered on the interests, needs, and fundamental rights of the population, progress may be achieved in the fight against poverty. If a country tries to apply economic policies in order to promote a beneficial increase to the poor ones, along with programs meant to help reach the targeted goals, the effects may be attenuated or annulled, when the governance institutions are ineffective or passive. The conclusion is that the governance is the missing link between the efforts of struggle against poverty and reaching the objective of poverty reduction.

  4. Mutations induced in plant breeding

    International Nuclear Information System (INIS)

    Barriga B, P.

    1984-01-01

    The most significant aspects of the use of ionizing radiations in plant breeding are reviewed. Aspects such as basic principles of mutation, expression and selection in obtention of mutants, methods for using induced mutations and sucess achieved with this methodology in plant breeding are reviewed. Results obtained in a program of induced mutation on wheat for high content of protein and lysine at the Universidad Austral de Chile are presented. (Author)

  5. Mutations induced in plant breeding

    Energy Technology Data Exchange (ETDEWEB)

    Barriga B, P. (Universidad Austral de Chile, Valdivia. Inst. de Produccion y Sanidad Vegetal)

    1984-10-01

    The most significant aspects of the use of ionizing radiations in plant breeding are reviewed. Aspects such as basic principles of mutation, expression and selection in obtention of mutants, methods for using induced mutations and sucess achieved with this methodology in plant breeding are reviewed. Results obtained in a program of induced mutation on wheat for high content of protein and lysine at the Universidad Austral de Chile are presented.

  6. Missing data in trauma registries: A systematic review.

    Science.gov (United States)

    Shivasabesan, Gowri; Mitra, Biswadev; O'Reilly, Gerard M

    2018-03-30

    Trauma registries play an integral role in trauma systems but their valid use hinges on data quality. The aim of this study was to determine, among contemporary publications using trauma registry data, the level of reporting of data completeness and the methods used to deal with missing data. A systematic review was conducted of all trauma registry-based manuscripts published from 01 January 2015 to current date (17 March 2017). Studies were identified by searching MEDLINE, EMBASE, and CINAHL using relevant subject headings and keywords. Included manuscripts were evaluated based on previously published recommendations regarding the reporting and discussion of missing data. Manuscripts were graded on their degree of characterization of such observations. In addition, the methods used to manage missing data were examined. There were 539 manuscripts that met inclusion criteria. Among these, 208 (38.6%) manuscripts did not mention data completeness and 88 (16.3%) mentioned missing data but did not quantify the extent. Only a handful (n = 26; 4.8%) quantified the 'missingness' of all variables. Most articles (n = 477; 88.5%) contained no details such as a comparison between patient characteristics in cohorts with and without missing data. Of the 331 articles which made at least some mention of data completeness, the method of managing missing data was unknown in 34 (10.3%). When method(s) to handle missing data were identified, 234 (78.8%) manuscripts used complete case analysis only, 18 (6.1%) used multiple imputation only and 34 (11.4%) used a combination of these. Most manuscripts using trauma registry data did not quantify the extent of missing data for any variables and contained minimal discussion regarding missingness. Out of the studies which identified a method of managing missing data, most used complete case analysis, a method that may bias results. The lack of standardization in the reporting and management of missing data questions the validity of

  7. Mutation breeding newsletter. No. 43

    International Nuclear Information System (INIS)

    1997-10-01

    This issue of the Newsletter includes articles dealing with radiation induced mutation based plant breeding research findings aimed at improving productivity, disease resistance and tolerance of stress conditions

  8. Mutation breeding in mangosteen

    International Nuclear Information System (INIS)

    Mohd Khalid Mohd Zain

    2002-01-01

    Mangosteen the queen of the tropical fruits is apomitic and only a cultivar is reported and it reproduces asexually. Conventional breeding is not possible and the other methods to create variabilities are through genetic engineering and mutation breeding. The former technique is still in the infantry stage in mangosteen research while the latter has been an established tool in breeding to improve cultivars. In this mutation breeding seeds of mangosteen were irradiated using gamma rays and the LD 50 for mangosteen was determined and noted to be very low at 10 Gy. After sowing in the seedbed, the seedlings were transplanted in polybags and observed in the nursery bed for about one year before planted in the field under old oil palm trees in Station MARDI, Kluang. After evaluation and screening, about 120 mutant mangosteen plants were selected and planted in Kluang. The plants were observed and some growth data taken. There were some mutant plants that have good growth vigour and more vigorous that the control plants. The trial are now in the fourth year and the plants are still in the juvenile stage. (Author)

  9. Mutation breeding in chickpea

    International Nuclear Information System (INIS)

    Sagel, Z.; Tutluer, M. I.; Peskircioglu, H.; Kantoglu, Y.; Kunter, B.

    2009-01-01

    Chickpea is an important food legume in Turkey. Turkey is one of the most important gene centers in the world for legumes. Realizing the potential of induced mutations, a mutation breeding programme was initiated at the Nuclear Agriculture Section of the Saraykoy Nuclear Research and Training Center in 1994. The purpose of the study was to obtain high yielding chickpea mutants with large seeds, good cooking quality and high protein content. Beside this some characters such as higher adaptation ability, tolerant to cold and drought, increased machinery harvest type, higher yield, resistant to diseases especially to antracnose and pest were investigated too. Parent varieties were ILC-482, AK-7114 and AKCIN-91 had been used in these experiments. The irradiation doses were 0 (control), 50, 100, 150, 200, 250, 300, 350 and 400 Gy for field experiments, respectively. As a result of these experiments, two promising mutant lines were chosen and given to the Seed Registration and Certification Center for official registration These two promising mutants were tested at five different locations of Turkey, in 2004 and 2005 years. After 2 years of registration experiments one of outstanding mutants was officially released as mutant chickpea variety under the name TAEK-SAGEL, in 2006. Some basic characteristics of this mutant are; earliness (95-100 day), high yield capacity (180-220 kg/da), high seed protein (22-25 %), first pot height (20-25 cm), 100 seeds weight (42-48 g), cooking time (35-40 min) and resistance to Ascochyta blight.

  10. Between the Cup and the Lip: Missed Dental Appointments.

    Science.gov (United States)

    Tandon, Sandeep; Duhan, Reena; Sharma, Meenakshi; Vasudeva, Suraj

    2016-05-01

    Missed appointments are an issue which have been very commonly noticed but overlooked in Indian dental society. Almost every dentist, general or specialized, private or public, has faced this problem in routine practice but very less research has been conducted on this issue in Asian countries. The aim of this study was to determine the frequency and distribution of missed dental appointments among children and the reasons behind the non-attendance in department of paediatric and preventive dentistry. Patients under 15 years of age who reported during the period March through August 2014 were included in this study. Attendance data and demographical data for patients was obtained from patient records and the hospital database. The type of treatment patients were to receive was gathered from the appointment diaries of staff, postgraduate students and undergraduates. A structured questionnaire regarding the most frequent reasons given by patients for not attending the scheduled appointment was also prepared. The data were analysed using descriptive analysis. Of the total 2294 patients 886 patients failed to come on their scheduled appointment. Percentage of patients who missed their appointments was 38.6%. A 38.2% of them required primary teeth pulp therapy. No significant differences was found between genders regarding the prevalence of missed dental appointments. Only 40% dentist witnessed that the most common reason for their patients to miss dental appointment was "no leave from school". Illness was the second frequent excuse heard by dentists (5/20= 25%) from their patients and attendants. Missed dental appointment was found to be a common issue in paediatric age group. Counseling and motivation is required to be done at first dental visit to reduce the chances of missed appointment.

  11. Studies on mutation techniques in rice breeding

    International Nuclear Information System (INIS)

    Wang Cailian; Chen Qiufang; Jin Wei

    2001-01-01

    Synthetical techniques for improving rice mutation breeding efficiency were studied. The techniques consist of corresponding relationship between radiosensitivity and mutation frequency, choosing appropriate materials, combination of physical and chemical mutagens, mutagenic effects of the new mutagenic agents as proton, ions, synchronous irradiation and space mutation. These techniques and methods for inducing mutations are very valuable to increase inducing mutation efficiency and breeding level

  12. A nonparametric multiple imputation approach for missing categorical data

    Directory of Open Access Journals (Sweden)

    Muhan Zhou

    2017-06-01

    Full Text Available Abstract Background Incomplete categorical variables with more than two categories are common in public health data. However, most of the existing missing-data methods do not use the information from nonresponse (missingness probabilities. Methods We propose a nearest-neighbour multiple imputation approach to impute a missing at random categorical outcome and to estimate the proportion of each category. The donor set for imputation is formed by measuring distances between each missing value with other non-missing values. The distance function is calculated based on a predictive score, which is derived from two working models: one fits a multinomial logistic regression for predicting the missing categorical outcome (the outcome model and the other fits a logistic regression for predicting missingness probabilities (the missingness model. A weighting scheme is used to accommodate contributions from two working models when generating the predictive score. A missing value is imputed by randomly selecting one of the non-missing values with the smallest distances. We conduct a simulation to evaluate the performance of the proposed method and compare it with several alternative methods. A real-data application is also presented. Results The simulation study suggests that the proposed method performs well when missingness probabilities are not extreme under some misspecifications of the working models. However, the calibration estimator, which is also based on two working models, can be highly unstable when missingness probabilities for some observations are extremely high. In this scenario, the proposed method produces more stable and better estimates. In addition, proper weights need to be chosen to balance the contributions from the two working models and achieve optimal results for the proposed method. Conclusions We conclude that the proposed multiple imputation method is a reasonable approach to dealing with missing categorical outcome data with

  13. Genomic Variants Revealed by Invariably Missing Genotypes in Nelore Cattle.

    Directory of Open Access Journals (Sweden)

    Joaquim Manoel da Silva

    Full Text Available High density genotyping panels have been used in a wide range of applications. From population genetics to genome-wide association studies, this technology still offers the lowest cost and the most consistent solution for generating SNP data. However, in spite of the application, part of the generated data is always discarded from final datasets based on quality control criteria used to remove unreliable markers. Some discarded data consists of markers that failed to generate genotypes, labeled as missing genotypes. A subset of missing genotypes that occur in the whole population under study may be caused by technical issues but can also be explained by the presence of genomic variations that are in the vicinity of the assayed SNP and that prevent genotyping probes from annealing. The latter case may contain relevant information because these missing genotypes might be used to identify population-specific genomic variants. In order to assess which case is more prevalent, we used Illumina HD Bovine chip genotypes from 1,709 Nelore (Bos indicus samples. We found 3,200 missing genotypes among the whole population. NGS re-sequencing data from 8 sires were used to verify the presence of genomic variations within their flanking regions in 81.56% of these missing genotypes. Furthermore, we discovered 3,300 novel SNPs/Indels, 31% of which are located in genes that may affect traits of importance for the genetic improvement of cattle production.

  14. Patterns and Outcome of Missed Injuries in Egyptians Polytrauma Patients

    Directory of Open Access Journals (Sweden)

    Adel Hamed Elbaih

    2018-01-01

    Full Text Available Introduction: “polytrauma” patients are higher risk of complications and death than the summation of expected mortality and morbidity of their individual injuries. The ideal goal in trauma resuscitation care is to identify and treat all injuries. With clinical and technological advanced imaging available for diagnosis and treatment of traumatic patients, missed injuries still significant affect modern trauma services and its outcome. Aim: to improve outcome and determine the incidence and nature of missed injuries in polytrauma patients. Methods: the study is a cross-sectional, prospective study included 600 polytraumatized patients admitted in Suez Canal University Hospital. Firstly assessed and treated accordingly to Advanced Trauma Life Support (ATLS guidelines and treat the life threading conditions if present with follow-up short outcome for 28 days. Results: The most common precipitate factor for missed injuries in my study was clinical evaluation error due to Inadequate diagnostic workup in 42.9%. And the second risk factor was Deficiency in Physical Examination in 35.7%. Lastly Incomplete assessment due to patient instability in 10.7% and incorrect interpretation of imaging10.7%.low rates of missed injuries (40.8% in patients arriving during the day compared with (59.2% of night arrivals. Conclusion: the incidence of missed injuries in the study is 9.0 % which is still high compared to many trauma centers. And mostly increase the period of stay in the hospital and affect the outcome of polytrauma patients.

  15. Moderation analysis with missing data in the predictors.

    Science.gov (United States)

    Zhang, Qian; Wang, Lijuan

    2017-12-01

    The most widely used statistical model for conducting moderation analysis is the moderated multiple regression (MMR) model. In MMR modeling, missing data could pose a challenge, mainly because the interaction term is a product of two or more variables and thus is a nonlinear function of the involved variables. In this study, we consider a simple MMR model, where the effect of the focal predictor X on the outcome Y is moderated by a moderator U. The primary interest is to find ways of estimating and testing the moderation effect with the existence of missing data in X. We mainly focus on cases when X is missing completely at random (MCAR) and missing at random (MAR). Three methods are compared: (a) Normal-distribution-based maximum likelihood estimation (NML); (b) Normal-distribution-based multiple imputation (NMI); and (c) Bayesian estimation (BE). Via simulations, we found that NML and NMI could lead to biased estimates of moderation effects under MAR missingness mechanism. The BE method outperformed NMI and NML for MMR modeling with missing data in the focal predictor, missingness depending on the moderator and/or auxiliary variables, and correctly specified distributions for the focal predictor. In addition, more robust BE methods are needed in terms of the distribution mis-specification problem of the focal predictor. An empirical example was used to illustrate the applications of the methods with a simple sensitivity analysis. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  16. The handling of missing binary data in language research

    Directory of Open Access Journals (Sweden)

    François Pichette

    2015-01-01

    Full Text Available Researchers are frequently confronted with unanswered questions or items on their questionnaires and tests, due to factors such as item difficulty, lack of testing time, or participant distraction. This paper first presents results from a poll confirming previous claims (Rietveld & van Hout, 2006; Schafer & Gra- ham, 2002 that data replacement and deletion methods are common in research. Language researchers declared that when faced with missing answers of the yes/no type (that translate into zero or one in data tables, the three most common solutions they adopt are to exclude the participant’s data from the analyses, to leave the square empty, or to fill in with zero, as for an incorrect answer. This study then examines the impact on Cronbach’s α of five types of data insertion, using simulated and actual data with various numbers of participants and missing percentages. Our analyses indicate that the three most common methods we identified among language researchers are the ones with the greatest impact  n Cronbach's α coefficients; in other words, they are the least desirable solutions to the missing data problem. On the basis of our results, we make recommendations for language researchers concerning the best way to deal with missing data. Given that none of the most common simple methods works properly, we suggest that the missing data be replaced either by the item’s mean or by the participants’ overall mean to provide a better, more accurate image of the instrument’s internal consistency.

  17. Ultrasonographic findings of Myoma, H-mole and Missed abortion

    International Nuclear Information System (INIS)

    Huh, Nam Yoon; You, H. S.; Seong, K. J.; Park, C. Y.

    1982-01-01

    Ultrasonography is very important in the diagnosis of various kinds of diseases in Obsterics and Gynecology. It has high diagnostic accuracy in the diagnosis of pelvic masses and widely used for the detection of normal orpathologic pregnancy. But still it is difficult to differentiate degenerated myoma, H-mole and missed abortion by ultrasonography. So the authors analyzed the ultrasonographic findings of 81 patients with myoma(29 cases), H-mole(23 cases), and missed abortion(29 cases) and the results are as follows; 1. Diagnostic accuracy was 8.6% in myoma, 87% in H-mole and 89% in missed abortion. 2. The most typical ultrasonographic finding of myoma was obulated mass contour with nonhomogenous internal echo. 3. The most characteristic finding of H-mole was fine vesicular pattern internal echo with globular enlargement of uterus. 4. The most frequent finding of missed abortion was deformed gestational sac with or without remained fetal echo. 5. Clinical correlation was very important for accurate diagnosis, especially when differential diagnosis was very difficult between myoma with marked cystic degeneration, missed abortion with large distorted gestational sac and H-mole with severe degeneration

  18. Principal Component Analysis of Process Datasets with Missing Values

    Directory of Open Access Journals (Sweden)

    Kristen A. Severson

    2017-07-01

    Full Text Available Datasets with missing values arising from causes such as sensor failure, inconsistent sampling rates, and merging data from different systems are common in the process industry. Methods for handling missing data typically operate during data pre-processing, but can also occur during model building. This article considers missing data within the context of principal component analysis (PCA, which is a method originally developed for complete data that has widespread industrial application in multivariate statistical process control. Due to the prevalence of missing data and the success of PCA for handling complete data, several PCA algorithms that can act on incomplete data have been proposed. Here, algorithms for applying PCA to datasets with missing values are reviewed. A case study is presented to demonstrate the performance of the algorithms and suggestions are made with respect to choosing which algorithm is most appropriate for particular settings. An alternating algorithm based on the singular value decomposition achieved the best results in the majority of test cases involving process datasets.

  19. Mutation breeding in soybean

    International Nuclear Information System (INIS)

    Baradjanegara, A.A.

    1983-01-01

    In Indonesia, soybean is one of the important crop after rice. It is generally cultivated in the lowlands and rarely in the highlands. Seeds of soybean variety ORBA were treated with various doses of fast neutrons, gamma rays, EMS and NaN 3 with the aims of studying the mutagen effects in M-1 and M-2 generations and also to select mutants adapted to highland conditions. D-50 doses for gamma rays, fast neutrons and EMS were around 23 krad, 2,300 rad, 0.3%, respectively. Much higher chlorophyll mutation frequency was observed in EMS treatment of 0.3%. Seven mutants were shorter and four early mutants matured from 4 to 20 days earlier than the control plants. Two early mutants were quite adaptable in both the low and highlands and produced better yields than the parental material. (author)

  20. Founder Mutations in Xeroderma Pigmentosum

    Science.gov (United States)

    Tamura, Deborah; DiGiovanna, John J.; Kraemer, Kenneth H.

    2012-01-01

    In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP. PMID:20463673

  1. Mutations causative of familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Benn, Marianne; Watts, Gerald F; Tybjærg-Hansen, Anne

    2016-01-01

    causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS AND RESULTS: We genotyped for LDLR[W23X;W66G;W556S] and APOB[R3500Q] accounting for 38.7% of pathogenic FH mutations in Copenhagen. Clinical FH assessment excluded mutation information......-cholesterol concentration to discriminate between mutation carriers and non-carriers was 4.4 mmol/L. CONCLUSION: Familial hypercholesterolaemia-causing mutations are estimated to occur in 1:217 in the general population and are best identified by a definite or probable phenotypic diagnosis of FH based on the DLCN criteria....... The prevalence of the four FH mutations was 0.18% (1:565), suggesting a total prevalence of FH mutations of 0.46% (1:217). Using the Dutch Lipid Clinic Network (DLCN) criteria, odds ratios for an FH mutation were 439 (95% CI: 170-1 138) for definite FH, 90 (53-152) for probable FH, and 18 (13-25) for possible FH...

  2. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

    Science.gov (United States)

    van der Klift, Heleen M; Mensenkamp, Arjen R; Drost, Mark; Bik, Elsa C; Vos, Yvonne J; Gille, Hans J J P; Redeker, Bert E J W; Tiersma, Yvonne; Zonneveld, José B M; García, Encarna Gómez; Letteboer, Tom G W; Olderode-Berends, Maran J W; van Hest, Liselotte P; van Os, Theo A; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J; Ten Broeke, Sanne W; Hes, Frederik J; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J L; Wijnen, Juul T; Tops, Carli M J

    2016-11-01

    Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are applied to overcome problematic PMS2 mutation analysis due to the presence of pseudogenes and frequent gene conversion events. Here, we determined PMS2 mutation detection yield and mutation spectrum in a nationwide cohort of 396 probands. Furthermore, we studied concordance between tumor IHC/MSI (immunohistochemistry/microsatellite instability) profile and mutation carrier state. Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients. In vitro mismatch repair assays suggested pathogenicity for three missense variants. Ninety-one PMS2 mutation carriers (70%) showed isolated loss of PMS2 in their tumors, for 31 (24%) no or inconclusive IHC was available, and eight carriers (6%) showed discordant IHC (presence of PMS2 or loss of both MLH1 and PMS2). Ten cases with isolated PMS2 loss (10%; 10/97) harbored MLH1 mutations. We confirmed that recently improved mutation analysis provides a high yield of PMS2 mutations in patients with isolated loss of PMS2 expression. Application of universal tumor prescreening methods will however miss some PMS2 germline mutation carriers. © 2016 WILEY PERIODICALS, INC.

  3. MPL mutations in myeloproliferative disorders

    DEFF Research Database (Denmark)

    Beer, Philip A.; Campbell, Peter J.; Scott, Linda M.

    2008-01-01

    Activating mutations of MPL exon 10 have been described in a minority of patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET), but their prevalence and clinical significance are unclear. Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet c......DNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF. Allele-specific polymerase chain reaction was then used to genotype 776 samples from patients with ET entered into the PT-1 studies. MPL mutations were identified in 8.5% of JAK2 V617F......(-) patients and a single V617F(+) patient. Patients carrying the W515K allele had a significantly higher allele burden than did those with the W515L allele, suggesting a functional difference between the 2 variants. Compared with V617F(+) ET patients, those with MPL mutations displayed lower hemoglobin...

  4. Mutation induction by heavy ions

    Science.gov (United States)

    Kiefer, J.; Stoll, U.; Schneider, E.

    1994-10-01

    Mutation induction by heavy ions is compared in yeast and mammalian cells. Since mutants can only be recovered in survivors the influence of inactivation cross sections has to be taken into account. It is shown that both the size of the sensitive cellular site as well as track structure play an important role. Another parameter which influences the probability of mutation induction is repair: Contrary to naive assumptions primary radiation damage does not directly lead to mutations but requires modification to reconstitute the genetic machinery so that mutants can survive. The molecular structure of mutations was analyzed after exposure to deuterons by amplification with the aid of polymerase chain reaction. The results-although preliminary-demonstrate that even with densely ionizing particles a large fraction does not carry big deletions which suggests that point mutations may also be induced by heavy ions.

  5. Mutation breeding in ornamental plants

    International Nuclear Information System (INIS)

    Datta, S.K.

    1990-01-01

    Full text: Mutation induction produced a large number of new promising varieties in ornamental species. 37 new mutants of Chrysanthemum and 14 of rose have been developed by mutations and released for commercialisation. The mutations in flower colour/shape were detected as chimeras in M 1 V 1 , M 1 V 2 , M 1 V 3 generations. The mutation frequency varied with the cultivar and exposure to gamma rays. Comparative analysis of original cultivars and their respective induced mutants on cytomorphological, anatomical and biochemical characters are being carried out for better understanding of the mechanism involved in the origin and evolution of somatic flower colour/shape mutations. Cytological analysis with reference to chromosomal aberrations, chromosome number, ICV, INV and DNA content gave no differences between the original and mutant cultivars. Analysis of florets/petal pigments by TLC and spectrophotometric methods indicated both qualitative and quantitative changes. (author)

  6. Prediction of Missing Streamflow Data using Principle of Information Entropy

    Directory of Open Access Journals (Sweden)

    Santosa, B.

    2014-01-01

    Full Text Available Incomplete (missing of streamflow data often occurs. This can be caused by a not continous data recording or poor storage. In this study, missing consecutive streamflow data are predicted using the principle of information entropy. Predictions are performed ​​using the complete monthly streamflow information from the nearby river. Data on average monthly streamflow used as a simulation sample are taken from observation stations Katulampa, Batubeulah, and Genteng, which are the Ciliwung Cisadane river areas upstream. The simulated prediction of missing streamflow data in 2002 and 2003 at Katulampa Station are based on information from Genteng Station, and Batubeulah Station. The mean absolute error (MAE average obtained was 0,20 and 0,21 in 2002 and the MAE average in 2003 was 0,12 and 0,16. Based on the value of the error and pattern of filled gaps, this method has the potential to be developed further.

  7. Missed, Not Missing: Phylogenomic Evidence for the Existence of Avian FoxP3.

    Directory of Open Access Journals (Sweden)

    Michael P Denyer

    Full Text Available The Forkhead box transcription factor FoxP3 is pivotal to the development and function of regulatory T cells (Tregs, which make a major contribution to peripheral tolerance. FoxP3 is believed to perform a regulatory role in all the vertebrate species in which it has been detected. The prevailing view is that FoxP3 is absent in birds and that avian Tregs rely on alternative developmental and suppressive pathways. Prompted by the automated annotation of foxp3 in the ground tit (Parus humilis genome, we have questioned this assumption. Our analysis of all available avian genomes has revealed that the foxp3 locus is missing, incomplete or of poor quality in the relevant genomic assemblies for nearly all avian species. Nevertheless, in two species, the peregrine falcon (Falco peregrinus and the saker falcon (F. cherrug, there is compelling evidence for the existence of exons showing synteny with foxp3 in the ground tit. A broader phylogenomic analysis has shown that FoxP3 sequences from these three species are similar to crocodilian sequences, the closest living relatives of birds. In both birds and crocodilians, we have also identified a highly proline-enriched region at the N terminus of FoxP3, a region previously identified only in mammals.

  8. Mutational meltdown in laboratory yeast populations

    NARCIS (Netherlands)

    Zeyl, C.; Mizesko, M.; Visser, de J.A.G.M.

    2001-01-01

    In small or repeatedly bottlenecked populations, mutations are expected to accumulate by genetic drift, causing fitness declines. In mutational meltdown models, such fitness declines further reduce population size, thus accelerating additional mutation accumulation and leading to extinction. Because

  9. Analyzing time-ordered event data with missed observations.

    Science.gov (United States)

    Dokter, Adriaan M; van Loon, E Emiel; Fokkema, Wimke; Lameris, Thomas K; Nolet, Bart A; van der Jeugd, Henk P

    2017-09-01

    A common problem with observational datasets is that not all events of interest may be detected. For example, observing animals in the wild can difficult when animals move, hide, or cannot be closely approached. We consider time series of events recorded in conditions where events are occasionally missed by observers or observational devices. These time series are not restricted to behavioral protocols, but can be any cyclic or recurring process where discrete outcomes are observed. Undetected events cause biased inferences on the process of interest, and statistical analyses are needed that can identify and correct the compromised detection processes. Missed observations in time series lead to observed time intervals between events at multiples of the true inter-event time, which conveys information on their detection probability. We derive the theoretical probability density function for observed intervals between events that includes a probability of missed detection. Methodology and software tools are provided for analysis of event data with potential observation bias and its removal. The methodology was applied to simulation data and a case study of defecation rate estimation in geese, which is commonly used to estimate their digestive throughput and energetic uptake, or to calculate goose usage of a feeding site from dropping density. Simulations indicate that at a moderate chance to miss arrival events ( p  = 0.3), uncorrected arrival intervals were biased upward by up to a factor 3, while parameter values corrected for missed observations were within 1% of their true simulated value. A field case study shows that not accounting for missed observations leads to substantial underestimates of the true defecation rate in geese, and spurious rate differences between sites, which are introduced by differences in observational conditions. These results show that the derived methodology can be used to effectively remove observational biases in time-ordered event

  10. Ultrasonographic findings of hydatidiform mole and missed abortion

    International Nuclear Information System (INIS)

    Yun, Kwang Myeong; Lee, Yeong Hwan; Chung, Hye Kyeong; Chung, Duck Soo; Kim, Ok Dong

    1990-01-01

    To establish the sonographic characteristics of the hydatidiform mole and the missed abortion with placental degeneration, we have retrospectively analyzed 12 cases of complete mole, 10 cases of partial mole, and 10 cases of missed abortion with placental hydropic degeneration, collected at Taegu Catholic General Hospital, from January 1986 to December 1989. The results were as follows : 1. Of 12 cases of complete mole, all demonstrated diffuse intrauterine vesicular pattern of internal echo without a gestational sac. Two cases were recurred after D and E. 2. The partial mole was characterized by focal (70%) or diffuse (20%) distribution of hydatidiform placental change and a gestational sac (100%) with or without a macerated fetus. But the striking hydatidiform placental change was not present in one cases of partial mole. 3. The uterus was larger for dates in 9 cases (90%) of complete mole, but smaller for dates in 7 cases (70%) of partial mole. 4. The missed abortion with placental hydropic degeneration was indistinguished from a partial mole due to their similar sonographic appearance : focal or diffuse cystic change of a placenta, a distorted gestational sac with or without a fetus, and a smaller uterus for dates. On conclusion, the complete mole could be easily distinguished from a partial mole or a missed abortion by sonography : a gestational sac or an area of noncystic placenta was not identified in a complete mole. The partial mole was indistinguished from a missed abortion, but if there is the suspicion of trophoblastic proliferation, such as a convex placental surface or a larger uterus for dates, then the diagnosis is probably a partial mole rather than a missed abortion

  11. VIGAN: Missing View Imputation with Generative Adversarial Networks.

    Science.gov (United States)

    Shang, Chao; Palmer, Aaron; Sun, Jiangwen; Chen, Ko-Shin; Lu, Jin; Bi, Jinbo

    2017-01-01

    In an era when big data are becoming the norm, there is less concern with the quantity but more with the quality and completeness of the data. In many disciplines, data are collected from heterogeneous sources, resulting in multi-view or multi-modal datasets. The missing data problem has been challenging to address in multi-view data analysis. Especially, when certain samples miss an entire view of data, it creates the missing view problem. Classic multiple imputations or matrix completion methods are hardly effective here when no information can be based on in the specific view to impute data for such samples. The commonly-used simple method of removing samples with a missing view can dramatically reduce sample size, thus diminishing the statistical power of a subsequent analysis. In this paper, we propose a novel approach for view imputation via generative adversarial networks (GANs), which we name by VIGAN. This approach first treats each view as a separate domain and identifies domain-to-domain mappings via a GAN using randomly-sampled data from each view, and then employs a multi-modal denoising autoencoder (DAE) to reconstruct the missing view from the GAN outputs based on paired data across the views. Then, by optimizing the GAN and DAE jointly, our model enables the knowledge integration for domain mappings and view correspondences to effectively recover the missing view. Empirical results on benchmark datasets validate the VIGAN approach by comparing against the state of the art. The evaluation of VIGAN in a genetic study of substance use disorders further proves the effectiveness and usability of this approach in life science.

  12. Empirical Likelihood in Nonignorable Covariate-Missing Data Problems.

    Science.gov (United States)

    Xie, Yanmei; Zhang, Biao

    2017-04-20

    Missing covariate data occurs often in regression analysis, which frequently arises in the health and social sciences as well as in survey sampling. We study methods for the analysis of a nonignorable covariate-missing data problem in an assumed conditional mean function when some covariates are completely observed but other covariates are missing for some subjects. We adopt the semiparametric perspective of Bartlett et al. (Improving upon the efficiency of complete case analysis when covariates are MNAR. Biostatistics 2014;15:719-30) on regression analyses with nonignorable missing covariates, in which they have introduced the use of two working models, the working probability model of missingness and the working conditional score model. In this paper, we study an empirical likelihood approach to nonignorable covariate-missing data problems with the objective of effectively utilizing the two working models in the analysis of covariate-missing data. We propose a unified approach to constructing a system of unbiased estimating equations, where there are more equations than unknown parameters of interest. One useful feature of these unbiased estimating equations is that they naturally incorporate the incomplete data into the data analysis, making it possible to seek efficient estimation of the parameter of interest even when the working regression function is not specified to be the optimal regression function. We apply the general methodology of empirical likelihood to optimally combine these unbiased estimating equations. We propose three maximum empirical likelihood estimators of the underlying regression parameters and compare their efficiencies with other existing competitors. We present a simulation study to compare the finite-sample performance of various methods with respect to bias, efficiency, and robustness to model misspecification. The proposed empirical likelihood method is also illustrated by an analysis of a data set from the US National Health and

  13. The mystery of Japan's missing centenarians explained

    Directory of Open Access Journals (Sweden)

    Yasuhiko Saito

    2012-03-01

    Full Text Available This report elucidates the issue of Japan's missing centenarians, which was uncovered in 2010. We provide the latest figures from verification efforts, discuss sources of centenarian information in Japan, examine possible causes, and evaluate the effect of the missing centenarians on official statistics. In Japan 234,354 people registered before 1910 remained on the family registers in 2010, without being crossed out. They would have been 100 years old at least and represent 0.5Š of the births recorded between 1872 and 1910. The impact of this group on life expectancy statistics, however, is effectively nil.

  14. The smallest teeth in the world are caused by mutations in the PCNT gene.

    Science.gov (United States)

    Kantaputra, Piranit; Tanpaiboon, Pranoot; Porntaveetus, Thantrira; Ohazama, Atsushi; Sharpe, Paul; Rauch, Anita; Hussadaloy, Atiwat; Thiel, Christian T

    2011-06-01

    We report a follow up study on two MOPD II Thai families with severe dental anomalies and hypoplastic alveolar bone. Striking dental anomalies comprise severe microdontia, opalescent and abnormally shaped teeth, and rootless molars. As a result of severe hypoplastic alveolar bone, most permanent teeth have been lost. Mutation analysis of PCNT revealed 2 novel mutations (p.Lys3154del and p.Glu1154X) and a recurrent mutation (p.Pro1923X). Teeth of the patient who carried a homozygous novel mutation of p.Glu1154X are probably the smallest ever reported. The sizes of the mandibular permanent incisors and all premolars were approximately 2-2.5 mm, mesiodistally. All previously reported, PCNT mutations have been described to cause premature truncation of the pericentrin protein. p.Lys3154del mutation was unique as it was pathogenic as a result of missing only a single amino acid. In situ hybridization of Pcnt shows its expression in the epithelium and mesenchyme during early stages of rodent tooth development. It is evident that PCNT has crucial role in tooth development. The permanent dentition is more severely affected than the one. This implies that PCNT appears to have more role in the development of the permanent dentition. As pericentrin is a critical centrosomal protein, the dental phenotype found in MOPD II patients is postulated to be the consequence of loss of microtubule integrity which leads to defective centrosome function. Copyright © 2011 Wiley-Liss, Inc.

  15. Minisequencing mitochondrial DNA pathogenic mutations

    Directory of Open Access Journals (Sweden)

    Carracedo Ángel

    2008-04-01

    Full Text Available Abstract Background There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations. Methods We here propose a minisequencing assay for the analysis of mtDNA mutations. In a single reaction, we interrogate a total of 25 pathogenic mutations distributed all around the whole mtDNA genome in a sample of patients suspected for mtDNA disease. Results We have detected 11 causal homoplasmic mutations in patients suspected for Leber disease, which were further confirmed by standard automatic sequencing. Mutations m.11778G>A and m.14484T>C occur at higher frequency than expected by change in the Galician (northwest Spain patients carrying haplogroup J lineages (Fisher's Exact test, P-value Conclusion We here developed a minisequencing genotyping method for the screening of the most common pathogenic mtDNA mutations which is simple, fast, and low-cost. The technique is robust and reproducible and can easily be implemented in standard clinical laboratories.

  16. Mutation breeding in malting barley

    Energy Technology Data Exchange (ETDEWEB)

    Hiraki, Makoto; Sanada, Matsuyoshi

    1984-03-01

    The released varieties of malting barley through mutation breeding is more than ten in number, including foreign varieties. In Japan four varieties has been released so far. We started mutation breeding in 1956 together with cross breeding that we employed before. Until now, Gamma 4, Amagi Nijo 1 and Fuji Nijo 2 have been produced from the direct use of induced mutations and Nirasaki Nijo 8 from the indirect use of them. Mutation breeding has been used mainly in the partial improvement of agronomic characteristics since the selection for malting quality was very complicated. As the variety bred by induced mutation is usually equivalent to the original variety in malting quality, both this new variety and the original one could be cultivated in the same area without any problem on later malt production. Particularly when one farmer cultivates barley in an extensive acreage, he can harvest at the best time according to the different maturing time of each variety. From these points of view, mutation breeding is an efficient tool in malting barley breeding. Mutagens we have used so far are X-rays, ..gamma..-rays, neutron and chemicals such as dES. From our experience in selection, the low dose of radiation and chemical mutagens are more effective in selection of point mutation than the high dose of radiation which tends to produce many abnormal but few practical mutants. (author).

  17. HNPCC: Six new pathogenic mutations

    Directory of Open Access Journals (Sweden)

    Epplen Joerg T

    2004-06-01

    Full Text Available Abstract Background Hereditary non-polyposis colorectal cancer (HNPCC is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR. HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in the DNA mismatch-repair genes MLH1, MSH2 and MSH6. Methods Patients with clinical diagnosis of HNPCC were counselled. Tumor specimen were analysed for microsatellite instability and immunohistochemistry for MLH1, MSH2 and MSH6 protein was performed. If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. Results We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6 resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745], c.2076_2077delTG [p.G693fsX702], three mutations in MSH2 (c.810_811delGT [p.C271fsX282], c.763_766delAGTGinsTT [p.F255fsX282], c.873_876delGACT [p.L292fsX298] and one mutation in MSH6 (c.1421_1422dupTG [p.C475fsX480]. All six tumors tested for microsatellite instability showed high levels of microsatellite instability (MSI-H. Conclusions HNPCC in families with MSH6 germline mutations may show an age of onset that is comparable to this of patients with MLH1 and MSH2 mutations.

  18. Factor V Leiden Mutation and PT 20210 Mutation Test

    Science.gov (United States)

    ... Disorders Fibromyalgia Food and Waterborne Illness Fungal Infections Gout Graves Disease Guillain-Barré Syndrome Hashimoto Thyroiditis Heart ... Tested? To determine whether you have an inherited gene mutation that increases your risk of developing a ...

  19. Mutations induced by ultraviolet light

    International Nuclear Information System (INIS)

    Pfeifer, Gerd P.; You, Young-Hyun; Besaratinia, Ahmad

    2005-01-01

    The different ultraviolet (UV) wavelength components, UVA (320-400 nm), UVB (280-320 nm), and UVC (200-280 nm), have distinct mutagenic properties. A hallmark of UVC and UVB mutagenesis is the high frequency of transition mutations at dipyrimidine sequences containing cytosine. In human skin cancers, about 35% of all mutations in the p53 gene are transitions at dipyrimidines within the sequence 5'-TCG and 5'-CCG, and these are localized at several mutational hotspots. Since 5'-CG sequences are methylated along the p53 coding sequence in human cells, these mutations may be derived from sunlight-induced pyrimidine dimers forming at sequences that contain 5-methylcytosine. Cyclobutane pyrimidine dimers (CPDs) form preferentially at dipyrimidines containing 5-methylcytosine when cells are irradiated with UVB or sunlight. In order to define the contribution of 5-methylcytosine to sunlight-induced mutations, the lacI and cII transgenes in mouse fibroblasts were used as mutational targets. After 254 nm UVC irradiation, only 6-9% of the base substitutions were at dipyrimidines containing 5-methylcytosine. However, 24-32% of the solar light-induced mutations were at dipyrimidines that contain 5-methylcytosine and most of these mutations were transitions. Thus, CPDs forming preferentially at dipyrimidines with 5-methylcytosine are responsible for a considerable fraction of the mutations induced by sunlight in mammalian cells. Using mouse cell lines harboring photoproduct-specific photolyases and mutational reporter genes, we showed that CPDs (rather than 6-4 photoproducts or other lesions) are responsible for the great majority of UVB-induced mutations. An important component of UVB mutagenesis is the deamination of cytosine and 5-methylcytosine within CPDs. The mutational specificity of long-wave UVA (340-400 nm) is distinct from that of the shorter wavelength UV and is characterized mainly by G to T transversions presumably arising through mechanisms involving oxidized DNA

  20. Radiation mutation breeding

    International Nuclear Information System (INIS)

    Song, Hi Sup; Kim, Jae Sung; Kim, Jin Kyu; Shin, In Chul; Lim, Young Taek

    1998-04-01

    In order to develop an advanced technical knowledge for the selection of better mutants, some of the crops were irradiated and the mutation rate, the survival rate and the method for selction of a mutant were studied. Furthermore, this study aimed to obtain basic data applicable to the development of genetic resources by evaluation and analysis the specific character for selection of the superior mutant and its plant breeding. 1. selection of the mutant with a superior resistance against environment in the principal crops 1) New varieties of mutant rices such as Wonpyeongbyeo, Wongwangbyeo, Winmibyeo, and heogseon chalbeyeo (sticky forma) were registered in the national variety list and made an application to crop variety protection right. They are under review now. 2) We also keep on studying on the number of a grain of 8 lines of excellent mutant rice for the purpose of improvement of breeding . 3) We selected 3 lines which have a resistance to pod and stem blight in large soybean, 31 lines with small grain size and higher yield, 112 lines of soybean of cooking, 7 lines of low lipoxygenase content, and 12 lines with decreased phytic acid content by 20 % compared to the previous level. 2. Selection of advanced Mugunwha (Rose of Sharon) mutant 1) Bagseul, a new variety of mutant, was developed and 30 plantlets of it are being proliferated. 2) Fifty-three lines of a mutant having a various morphologies were selected

  1. Radiation mutation breeding

    Energy Technology Data Exchange (ETDEWEB)

    Song, Hi Sup; Kim, Jae Sung; Kim, Jin Kyu; Shin, In Chul; Lim, Young Taek

    1998-04-01

    In order to develop an advanced technical knowledge for the selection of better mutants, some of the crops were irradiated and the mutation rate, the survival rate and the method for selction of a mutant were studied. Furthermore, this study aimed to obtain basic data applicable to the development of genetic resources by evaluation and analysis the specific character for selection of the superior mutant and its plant breeding. 1. selection of the mutant with a superior resistance against environment in the principal crops 1) New varieties of mutant rices such as Wonpyeongbyeo, Wongwangbyeo, Winmibyeo, and heogseon chalbeyeo (sticky forma) were registered in the national variety list and made an application to crop variety protection right. They are under review now. 2) We also keep on studying on the number of a grain of 8 lines of excellent mutant rice for the purpose of improvement of breeding . 3) We selected 3 lines which have a resistance to pod and stem blight in large soybean, 31 lines with small grain size and higher yield, 112 lines of soybean of cooking, 7 lines of low lipoxygenase content, and 12 lines with decreased phytic acid content by 20 % compared to the previous level. 2. Selection of advanced Mugunwha (Rose of Sharon) mutant 1) Bagseul, a new variety of mutant, was developed and 30 plantlets of it are being proliferated. 2) Fifty-three lines of a mutant having a various morphologies were selected.

  2. Mutation breeding in wheat

    International Nuclear Information System (INIS)

    Amer, I.M.

    2002-01-01

    The study aims to improve the productivity of wheat by using gamma ray (100 - 600 Gy) in mutation breading. Five local varieties were used and the program continued for the Sakha 69 for seven generations. Seeds irradiated with 600 Gy were not germinated in the field, while low doses (100-150 Gy) stimulated the root growth and spike length. The higher doses caused gradual decrease of growth with differences in varieties response. in the second generation, a genetic differences were noticed in most varieties using doses of 100-300 Gy, and the dispike was disappeared when 250 Gy was used. 79 plants from irradiated Sakha 69 were selected according to spike length and the number of grains and planted with the control to test the third generation. differences between the varieties were noticed and 8 mutants with high productivity were selected and evaluated in the fourth and fifth generations with the local variety. The mutants improve the productivity and in particular the mutants Nos.. (19-1), (14-3), and (30-2). The experiment showed the relation between the planting sites and the mutants in the sixth and seven generations

  3. Induced mutations in castor

    International Nuclear Information System (INIS)

    Ganesan, K.; Javad Hussain, H.S.; Vindhiyavarman, P.

    2001-01-01

    Castor (Ricinus communis L.) is an important oilseed crop in India. To create variability mutations were induced in two cultivars 'TMV5' (maturing in 130-140 days) and 'CO1' (perennial type). Gamma rays and diethyl sulphate and ethidium bromide were used for seed treatment. Ten doses, from 100 to 1000 Gy were employed. For chemical mutagenesis five concentrations of mutagenes from 10 to 50 mM were tried. No economic mutants could be isolated after treatment with the chemical mutagens. The following economic mutants were identified in the dose 300 Gy of gamma rays. Annual types from perennial CO 1 castor CO 1 is a perennial variety (8-10 years) with bold seeds (100 seed weight 90 g) and high oil content (57%). Twenty-one lines were isolated with annual types (160-180 days) with high yield potential as well as bold seeds and high oil content. These mutants, identified in M 3 generation were bred true in subsequent generations up to M 8 generation. Critical evaluation of the mutants in yield evaluation trials is in progress

  4. Moving, sensing intersectionality: a case study of Miss China Europe

    NARCIS (Netherlands)

    Chow, Y.F.

    2011-01-01

    Every year, Miss China Europe, a transnational beauty pageant organized for the Chinese diaspora, is held in the Netherlands. The hypervisuality of Chinese diasporic women at the event stands in painful contrast to their everyday invisibility, whether in the Netherlands, China, or elsewhere in the

  5. The Politics and Paradoxes of Censorship: "Miss Lonelyhearts" in Hollywood.

    Science.gov (United States)

    Veitch, Jonathan

    1997-01-01

    Examines how Nathanael West's darkly critical text in his novel "Miss Lonelyhearts" was censored, through a series of demurrals and evasions, displacements and substitutions, even repression, to make it acceptable for the screen. Suggests that the resulting script illuminates the momentous cultural struggles underway in 1930s America--in…

  6. Exploratory Factor Analysis With Small Samples and Missing Data.

    Science.gov (United States)

    McNeish, Daniel

    2017-01-01

    Exploratory factor analysis (EFA) is an extremely popular method for determining the underlying factor structure for a set of variables. Due to its exploratory nature, EFA is notorious for being conducted with small sample sizes, and recent reviews of psychological research have reported that between 40% and 60% of applied studies have 200 or fewer observations. Recent methodological studies have addressed small size requirements for EFA models; however, these models have only considered complete data, which are the exception rather than the rule in psychology. Furthermore, the extant literature on missing data techniques with small samples is scant, and nearly all existing studies focus on topics that are not of primary interest to EFA models. Therefore, this article presents a simulation to assess the performance of various missing data techniques for EFA models with both small samples and missing data. Results show that deletion methods do not extract the proper number of factors and estimate the factor loadings with severe bias, even when data are missing completely at random. Predictive mean matching is the best method overall when considering extracting the correct number of factors and estimating factor loadings without bias, although 2-stage estimation was a close second.

  7. Proposed Interventions to Decrease the Frequency of Missed Test Results

    Science.gov (United States)

    Wahls, Terry L.; Cram, Peter

    2009-01-01

    Numerous studies have identified that delays in diagnosis related to the mishandling of abnormal test results are an import contributor to diagnostic errors. Factors contributing to missed results included organizational factors, provider factors and patient-related factors. At the diagnosis error conference continuing medical education conference…

  8. Introducing CSR - The Missing Ingredient in the Land Reform Recipe?

    African Journals Online (AJOL)

    This article identifies corporate social responsibility (CSR) as one of the missing ingredients in the recipe for a successful land reform programme. The article introduces CSR and discusses the business case for CSR; identifies its benefits; considers its possible limitations; and examines the major drivers behind the notion.

  9. 40 CFR 98.415 - Procedures for estimating missing data.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 20 2010-07-01 2010-07-01 false Procedures for estimating missing data. 98.415 Section 98.415 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) MANDATORY GREENHOUSE GAS REPORTING Suppliers of Industrial Greenhouse Gases § 98.415...

  10. On Stories and Theories: In Appreciation of Miss Freud

    Science.gov (United States)

    Cottle, Thomas J.

    2007-01-01

    In this article, the author reflects on Bert Cohler's essay "Desire, Teaching and Learning" and relates it to his teacher, Miss Anna Freud's story. The author asks whether it is possible that what one sees and hears, and encounters as teacher is only partially what is really out there in one's classroom and in the heads of one's students and…

  11. Hepatitis B and the Case of the Missing Women

    Science.gov (United States)

    Oster, Emily

    2005-01-01

    In many Asian countries the ratio of male to female population is higher than in the West: as high as 1.07 in China and India, and even higher in Pakistan. A number of authors (most notably Amartya Sen) have suggested that this imbalance reflects excess female mortality and have argued that as many as 100 million women are "missing."…

  12. Knowledge of Consequences of missing teeth in patients attending ...

    African Journals Online (AJOL)

    There was no significant difference between the knowledge of the consequences of missing teeth and sex or on level of education (p 0.05). Dentists constituted the largest source of information to these patients (25.6%) while the media constituted the least (0.5%). Conclusion: The result of this study showed poor knowledge ...

  13. Missed vaccination opportunities at a secondary health facility in ...

    African Journals Online (AJOL)

    The study aimed to identify missed vaccination visits and the associated factors in children presenting at the general out-patient clinic of a secondary health facility in Ilorin, Nigeria. Method: Through a descriptive cross-sectional study, the vaccination data of all children seen at the out-patient clinic were critically reviewed ...

  14. The Dutch Are Missing in the American Curriculum

    Science.gov (United States)

    Claunch, Ann

    2009-01-01

    The Dutch are missing in any U.S. history textbook, in the content standards, and in the nationally endorsed curriculum. Outside of New York State history classes, there is almost no mention of the Dutch influence in early 17th-century America. Fleeting references to the Netherlands as a staging area for the Pilgrims' famous "Mayflower"…

  15. Near miss reporting in the chemical process industry: an overview

    NARCIS (Netherlands)

    Schaaf, van der T.W.

    1995-01-01

    The research programme described in this paper focuses on the human component of system failure in general, and more specifically on the design and implementation of information systems for registration and analysis of so called near misses (or: near accidents) in the chemical process industry. Its

  16. Vesical Calculus 10 Years Post Missing Intrauterine Contraceptive ...

    African Journals Online (AJOL)

    Vesical Calculus 10 Years Post Missing Intrauterine. Contraceptive Device. Abdullahi Abdulwahab-Ahmed, Oluwagbemiga Olabisi Ogunleye. INTRODUCTION. Intrauterine contraceptive devices (IUCD) are acceptable means of contraception world over.[1-4] There have been reports of its migration to other adjourning sites ...

  17. Vesical Calculus 10 Years Post Missing Intrauterine Contraceptive ...

    African Journals Online (AJOL)

    Intravesical migration of intrauterine contraceptive device (IUCD) is rare. Early diagnosis of this rare entity is difficult because of its non‑specific manifestations and very low index of suspicion. We present this case of bladder stone following intravesical migration of IUCD found to have been missing since insertion 10 years ...

  18. Sample-Based Extreme Learning Machine with Missing Data

    Directory of Open Access Journals (Sweden)

    Hang Gao

    2015-01-01

    Full Text Available Extreme learning machine (ELM has been extensively studied in machine learning community during the last few decades due to its high efficiency and the unification of classification, regression, and so forth. Though bearing such merits, existing ELM algorithms cannot efficiently handle the issue of missing data, which is relatively common in practical applications. The problem of missing data is commonly handled by imputation (i.e., replacing missing values with substituted values according to available information. However, imputation methods are not always effective. In this paper, we propose a sample-based learning framework to address this issue. Based on this framework, we develop two sample-based ELM algorithms for classification and regression, respectively. Comprehensive experiments have been conducted in synthetic data sets, UCI benchmark data sets, and a real world fingerprint image data set. As indicated, without introducing extra computational complexity, the proposed algorithms do more accurate and stable learning than other state-of-the-art ones, especially in the case of higher missing ratio.

  19. Missed Opportunities for Health Education on Pap Smears in Peru

    Science.gov (United States)

    Bayer, Angela M.; Nussbaum, Lauren; Cabrera, Lilia; Paz-Soldan, Valerie A.

    2011-01-01

    Despite cervical cancer being one of the leading causes of cancer-related deaths among women in Peru, cervical Pap smear coverage is low. This article uses findings from 185 direct clinician observations in four cities of Peru (representing the capital and each of the three main geographic regions of the country) to assess missed opportunities for…

  20. Altering the "Near-Miss" Effect in Slot Machine Gamblers

    Science.gov (United States)

    Dixon, Mark R.; Nastally, Becky L.; Jackson, James E.; Habib, Reza

    2009-01-01

    This study investigated the potential for recreational gamblers to respond as if certain types of losing slot machine outcomes were actually closer to a win than others (termed the "near-miss effect"). Exposure to conditional discrimination training and testing disrupted this effect for 10 of the 16 participants. These 10 participants demonstrated…

  1. Missing Mass Searches in Dimuon Events with CT-PPS

    CERN Document Server

    Mironova, Maria

    2017-01-01

    In this summer student project the feasibility of missing mass searches with the CMS TOTEM Precision Proton Spectrometer was studied. Using a combination of CMS and CT-PPS data and Monte Carlo simulations, cuts to reduce the Drell Yan background were made and the expected signal was estimated.

  2. Optimal simultaneous superpositioning of multiple structures with missing data.

    Science.gov (United States)

    Theobald, Douglas L; Steindel, Phillip A

    2012-08-01

    Superpositioning is an essential technique in structural biology that facilitates the comparison and analysis of conformational differences among topologically similar structures. Performing a superposition requires a one-to-one correspondence, or alignment, of the point sets in the different structures. However, in practice, some points are usually 'missing' from several structures, for example, when the alignment contains gaps. Current superposition methods deal with missing data simply by superpositioning a subset of points that are shared among all the structures. This practice is inefficient, as it ignores important data, and it fails to satisfy the common least-squares criterion. In the extreme, disregarding missing positions prohibits the calculation of a superposition altogether. Here, we present a general solution for determining an optimal superposition when some of the data are missing. We use the expectation-maximization algorithm, a classic statistical technique for dealing with incomplete data, to find both maximum-likelihood solutions and the optimal least-squares solution as a special case. The methods presented here are implemented in THESEUS 2.0, a program for superpositioning macromolecular structures. ANSI C source code and selected compiled binaries for various computing platforms are freely available under the GNU open source license from http://www.theseus3d.org. dtheobald@brandeis.edu Supplementary data are available at Bioinformatics online.

  3. Explaining Tevatron leptons photons missing- T events with ...

    Indian Academy of Sciences (India)

    Abstract. The CDF experiment reported a lepton photon missing transverse energy. (/ET) signal 3σ in excess of the standard model prediction in Tevatron Run I data. The excess can be explained by the resonant production of a smuon, which subsequently decays to a muon, a photon and a gravitino. Here, we perform ...

  4. Gingival Recession in a Child‑Patient; Easily Missed Etiologies ...

    African Journals Online (AJOL)

    with age-appropriate complement of teeth except for a missing tooth 42. ... frenal attachment is more important in gingival recession in the child‑patient. A healthy child‑ ... spared rules out a possible role of brushing-induced gingival abrasion.

  5. Missing Chapters II: West Virginia Women in History.

    Science.gov (United States)

    Hensley, Frances S., Ed.

    This collection of essays chronicles the contributions of 14 West Virginia women active in individual and group endeavors from 1824 to the present. Because the achievements of these women are absent from previous histories of West Virginia, their stories constitute missing chapters in the state's history. Some of these women made contributions in…

  6. Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.

    Science.gov (United States)

    Johnson, S R; Leo, P J; McInerney-Leo, A M; Anderson, L K; Marshall, M; McGown, I; Newell, F; Brown, M A; Conwell, L S; Harris, M; Duncan, E L

    2018-06-01

    To assess the utility of whole-exome sequencing (WES) for mutation detection in maturity-onset diabetes of the young (MODY) and congenital hyperinsulinism (CHI). MODY and CHI are the two commonest monogenic disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. The large number of potential genes makes comprehensive screening using traditional methods expensive and time-consuming. Ten subjects with MODY and five with CHI with known mutations underwent WES using two different exome capture kits (Nimblegen SeqCap EZ Human v3.0 Exome Enrichment Kit, Nextera Rapid Capture Exome Kit). Analysis was blinded to previously identified mutations, and included assessment for large deletions. The target capture of five exome capture technologies was also analyzed using sequencing data from >2800 unrelated samples. Four of five MODY mutations were identified using Nimblegen (including a large deletion in HNF1B). Although targeted, one mutation (in INS) had insufficient coverage for detection. Eleven of eleven mutations (six MODY, five CHI) were identified using Nextera Rapid (including the previously missed mutation). On reconciliation, all mutations concorded with previous data and no additional variants in MODY genes were detected. There were marked differences in the performance of the capture technologies. WES can be useful for screening for MODY/CHI mutations, detecting both point mutations and large deletions. However, capture technologies require careful selection. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Diagnostic Laparoscopy for Trauma: How Not to Miss Injuries.

    Science.gov (United States)

    Koto, Modise Z; Matsevych, Oleh Y; Aldous, Colleen

    2018-05-01

    Diagnostic laparoscopy (DL) is a well-accepted approach for penetrating abdominal trauma (PAT). However, the steps of procedure and the systematic laparoscopic examination are not clearly defined in the literature. The aim of this study was to clarify the definition of DL in trauma surgery by auditing DL performed for PAT at our institution, and to describe the strategies on how to avoid missed injuries. The data of patients managed with laparoscopy for PAT from January 2012 to December 2015 were retrospectively analyzed. The details of operative technique and strategies on how to avoid missed injuries were discussed. Out of 250 patients managed with laparoscopy for PAT, 113 (45%) patients underwent DL. Stab wounds sustained 94 (83%) patients. The penetration of the peritoneal cavity or retroperitoneum was documented in 67 (59%) of patients. Organ evisceration was present in 21 (19%) patients. Multiple injuries were present in 22% of cases. The chest was the most common associated injury. Two (1.8%) iatrogenic injuries were recorded. The conversion rate was 1.7% (2/115). The mean length of hospital stay was 4 days. There were no missed injuries. In the therapeutic laparoscopy (TL) group, DL was performed as the initial part and identified all injuries. There were no missed injuries in the TL group. The predetermined sequential steps of DL and the standard systematic examination of intraabdominal organs were described. DL is a feasible and safe procedure. It accurately identifies intraabdominal injuries. The selected use of preoperative imaging, adherence to the predetermined steps of procedure and the standard systematic laparoscopic examination will minimize the rate of missed injuries.

  8. Missed injuries in the era of the trauma scan.

    Science.gov (United States)

    Lawson, Christy M; Daley, Brian J; Ormsby, Christine B; Enderson, Blaine

    2011-02-01

    A rapid computed tomography technique or "trauma scan" (TS) provides high-resolution studies of the head, cervical spine, chest, abdomen, and pelvis. We sought to determine whether TS has decreased missed injuries. A previous study of TS found a 3% missed rate. After institutional review board approval, trauma patients from January 2001 through December 2008 were reviewed for delayed diagnosis (DD) of injury to the head, cervical spine, chest, abdomen, or pelvis. Missed extremity injuries were excluded. Injury Severity Score, length of stay, type of injury, outcomes, and days to detection were captured. Of 26,264 patients reviewed, 90 patients had DD, with an incidence of 0.34%. DD most commonly presented on day 2. Injuries included 16 bowel/mesentery, 12 spine, 11 pelvic, 8 spleen, 6 diaphragm, 5 clavicle, 4 scapula, 4 cervical spine, 4 intracranial, 4 sternum, 3 maxillofacial, 3 liver, 2 heart/aorta, 2 vascular, 2 urethra/bladder, 2 pneumothorax, and 2 pancreas/common bile duct. DD resulted in 1 death, 6 prolonged intensive care unit stays, 19 operative interventions, and 38 additional interventions. TS is an effective way of evaluating trauma patients for intracranial, cervical spine, chest, abdomen, and pelvic injuries that have the potential to impact morbidity and mortality. The incidence of injuries missed in these crucial areas has been reduced at our institution by the use of this radiographic modality. The most common missed injury remains bowel, and so a high index of suspicion and the tertiary survey must remain a mainstay of therapy.

  9. Mutation breeding newsletter. No. 22

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1983-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  10. Mutation breeding newsletter. No. 34

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1989-07-01

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted.

  11. Mutation breeding newsletter. No. 29

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1987-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  12. Mutation breeding newsletter. No. 15

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1980-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  13. Mutation breeding newsletter. No. 5

    International Nuclear Information System (INIS)

    1975-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  14. Mutation breeding newsletter. No. 15

    International Nuclear Information System (INIS)

    1980-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 14

    International Nuclear Information System (INIS)

    1979-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 16

    International Nuclear Information System (INIS)

    1980-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  17. Mutation breeding newsletter. No. 12

    International Nuclear Information System (INIS)

    1978-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  18. Mutation breeding newsletter. No. 28

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1986-09-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  19. Mutation breeding newsletter. No. 29

    International Nuclear Information System (INIS)

    1987-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  20. Mutation breeding newsletter. No. 9

    International Nuclear Information System (INIS)

    1977-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  1. Mutation breeding newsletter. No. 7

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1976-01-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  2. Mutation Breeding Newsletter. No. 37

    International Nuclear Information System (INIS)

    1991-01-01

    This newsletter contains a brief account of FAO/IAEA meetings held in 1990 on plant breeding involving the use of induced mutations. It also features a list of commercially available plant cultivars produced by such techniques. Refs and tabs

  3. Mutation breeding newsletter. No. 4

    International Nuclear Information System (INIS)

    1974-08-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  4. Mutation breeding newsletter. No. 18

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1981-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  5. Mutation breeding newsletter. No. 9

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1977-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  6. Mutation breeding newsletter. No. 34

    International Nuclear Information System (INIS)

    1989-07-01

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted

  7. Mutation breeding newsletter. No. 24

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1984-07-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  8. Mutation breeding newsletter. No. 32

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1988-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  9. Mutation breeding newsletter. No. 36

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1990-07-01

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted.

  10. Mutation breeding newsletter. No. 3

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1974-01-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  11. Mutation breeding newsletter. No. 3

    International Nuclear Information System (INIS)

    1974-01-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  12. Mutation breeding newsletter. No. 11

    International Nuclear Information System (INIS)

    1978-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  13. Mutation breeding newsletter. No. 6

    International Nuclear Information System (INIS)

    1975-08-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  14. Mutation breeding newsletter. No. 1

    International Nuclear Information System (INIS)

    1972-05-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 31

    International Nuclear Information System (INIS)

    1988-03-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 44

    International Nuclear Information System (INIS)

    1999-04-01

    This issue of the Newsletter presents research reports on the role of radiation induced mutation and chemical mutagens in improving productivity, disease resistance; cold and salinity tolerance of various crops and ornamental plants

  17. Mutation breeding newsletter. No. 1

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1972-05-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  18. Mutation breeding newsletter. No. 25

    International Nuclear Information System (INIS)

    1985-01-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  19. Mutation breeding newsletter. No. 32

    International Nuclear Information System (INIS)

    1988-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  20. Mutation breeding newsletter. No. 5

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1975-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  1. Mutation breeding newsletter. No. 20

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1982-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  2. Mutation breeding newsletter. No. 28

    International Nuclear Information System (INIS)

    1986-09-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  3. Mutation breeding newsletter. No. 17

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1981-03-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  4. Mutation breeding newsletter. No. 16

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1980-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  5. Mutation breeding newsletter. No. 8

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1976-09-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  6. Mutation breeding newsletter. No. 4

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1974-08-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  7. Mutation breeding newsletter. No. 12

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1978-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  8. Mutation breeding newsletter. No. 6

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1975-08-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  9. Mutation breeding newsletter. No. 10

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1977-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  10. Mutation breeding newsletter. No. 14

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1979-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  11. Mutation breeding newsletter. No. 36

    International Nuclear Information System (INIS)

    1990-07-01

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted

  12. CHRNE Mutation and Congenital Myasthenia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-01-01

    Full Text Available The CHRNE e1293insG mutation was identified in 14 (60% of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.

  13. Mutation breeding newsletter. No. 19

    International Nuclear Information System (INIS)

    1982-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  14. Mutation breeding newsletter. No. 7

    International Nuclear Information System (INIS)

    1976-01-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 24

    International Nuclear Information System (INIS)

    1984-07-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 20

    International Nuclear Information System (INIS)

    1982-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  17. Mutation breeding newsletter. No. 18

    International Nuclear Information System (INIS)

    1981-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  18. Mutation breeding newsletter. No. 31

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1988-03-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  19. Mutation breeding newsletter. No. 27

    International Nuclear Information System (INIS)

    1986-02-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  20. Mutation breeding newsletter. No. 26

    International Nuclear Information System (INIS)

    1985-10-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  1. Mutation breeding newsletter. No. 17

    International Nuclear Information System (INIS)

    1981-03-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  2. Mutation breeding newsletter. No. 30

    International Nuclear Information System (INIS)

    1987-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  3. Mutation breeding newsletter. No. 13

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1979-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  4. Mutation breeding newsletter. No. 30

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1987-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  5. Mutation breeding newsletter. No. 19

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1982-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  6. Mutation breeding newsletter. No. 26

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1985-10-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  7. Mutation breeding newsletter. No. 25

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1985-01-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  8. Mutation breeding newsletter. No. 23

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1983-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  9. Mutation breeding newsletter. No. 27

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1986-02-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  10. Mutation breeding newsletter. No. 2

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1973-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  11. Mutation breeding newsletter. No. 11

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1978-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  12. Mutation breeding newsletter. No. 23

    International Nuclear Information System (INIS)

    1983-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  13. Mutation breeding newsletter. No. 2

    International Nuclear Information System (INIS)

    1973-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  14. Mutation breeding newsletter. No. 10

    International Nuclear Information System (INIS)

    1977-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 8

    International Nuclear Information System (INIS)

    1976-09-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 13

    International Nuclear Information System (INIS)

    1979-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  17. BRAF mutations in conjunctival melanoma

    DEFF Research Database (Denmark)

    Larsen, Ann-Cathrine; Dahl, Christina; Dahmcke, Christina M.

    2016-01-01

    with atypia. BRAF mutations were identified in 39 of 111 (35%) cases. The rate ratio of BRAF-mutated versus BRAF-wild-type melanoma did not change over time. BRAF mutations were associated with T1 stage (p = 0.007), young age (p = 0.001), male gender (p = 0.02), sun-exposed location (p = 0.01), mixed....../non-pigmented tumour colour (p = 0.02) and nevus origin (p = 0.005), but did not associate with prognosis. BRAF status in conjunctival melanoma and paired premalignant lesions corresponded in 19 of 20 cases. Immunohistochemistry detected BRAF V600E mutations with a sensitivity of 0.94 and a specificity of 1...

  18. Mutation breeding newsletter. No. 22

    International Nuclear Information System (INIS)

    1983-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  19. Mutation breeding in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Neto, A T; Menten, J O.M. [Centro de Energia Nuclear na Agricultura, Piracicaba (Brazil); Ando, A

    1980-03-01

    How mutation induction is used for plant breeding in Brazil is reported. For upland rice, the combined treatment with gamma-ray and mutagens (ethylene imine or ethylmethane sulfonate) has been used on the variety, Dourado Precoce, and some mutants with shortculm length and/or earliness without altering the productivity have been obtained. A project on the quantitative and qualitative protein improvement in upland rice was also started in 1979. In corn, the effect of gamma-irradiation on heterosis has been analyzed, and it was found that the single hybrids from two parental lines derived from irradiated seeds had increased ear productivity. For beans (Phaseolus yulgaris), gamma-irradiation and chemical mutagens have been used to induce the mutants with different seed color, disease resistance to golden mosaic virus and Xanthomonas phaseoli, earliness, high productivity and high protein content. Some mutants with partly improved characters have been obtained in these experiments. Two varieties of wheat tolerant to aluminum toxicity have been obtained, but the one showed high lodging due to its unfavorable plant height, and the other was highly susceptible to culm rust. Therefore, irradiation experiments have been started to improve these characters. The projects involving the use of gamma-irradiation have been tested to obtain the mutant lines insensitive to photoperiod and resistant to bud-blight in soybean, the mutant lines resistant to mosaic virus in papaya, the photoperiod-insensitive mutants in sorghum, the mosaic virus resistant and non-flowering mutants in sugar cane, and the Fusarium and nematode-resistant mutants in black pepper.

  20. Screening of three Mediterranean phenylketonuria mutations in ...

    Indian Academy of Sciences (India)

    as the most frequent mutation (Dahri et al. 2010). The. E280K mutation was also reported in Mediterranean popu- lations (Guldberg et al. 1993). Since Tunisia is a Mediter- ranean country, patients with PKU are presumed to have these mutations. The aim of this study was to assess prevalence of the three above mutations ...

  1. Signatures of mutational processes in human cancer

    NARCIS (Netherlands)

    Alexandrov, L.B.; Nik-Zainal, S.; Wedge, D.C.; Aparicio, S.A.; Behjati, S.; Biankin, A.V.; Bignell, G.R.; Bolli, N.; Borg, A.; Borresen-Dale, A.L.; Boyault, S.; Burkhardt, B.; Butler, A.P.; Caldas, C.; Davies, H.R.; Desmedt, C.; Eils, R.; Eyfjord, J.E.; Foekens, J.A.; Greaves, M.; Hosoda, F.; Hutter, B.; Ilicic, T.; Imbeaud, S.; Imielinsk, M.; Jager, N.; Jones, D.T.; Knappskog, S.; Kool, M.; Lakhani, S.R.; Lopez-Otin, C.; Martin, S.; Munshi, N.C.; Nakamura, H.; Northcott, P.A.; Pajic, M.; Papaemmanuil, E.; Paradiso, A.; Pearson, J.V.; Puente, X.S.; Raine, K.; Ramakrishna, M.; Richardson, A.L.; Richter, J.; Rosenstiel, P.; Schlesner, M.; Schumacher, T.N.; Span, P.N.; Teague, J.W.; Totoki, Y.; Tutt, A.N.; Valdes-Mas, R.; Buuren, M.M. van; Veer, L. van 't; Vincent-Salomon, A.; Waddell, N.; Yates, L.R.; Zucman-Rossi, J.; Futreal, P.A.; McDermott, U.; Lichter, P.; Meyerson, M.; Grimmond, S.M.; Siebert, R.; Campo, E.; Shibata, T.; Pfister, S.M.; Campbell, P.J.; Stratton, M.R.; Schlooz-Vries, M.S.; Tol, J.J. van; Laarhoven, H.W. van; Sweep, F.C.; Bult, P.; et al.,

    2013-01-01

    All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362

  2. KONVERGENSI ESTIMATOR DALAM MODEL MIXTURE BERBASIS MISSING DATA

    Directory of Open Access Journals (Sweden)

    N Dwidayati

    2014-06-01

    Full Text Available Abstrak __________________________________________________________________________________________ Model mixture dapat mengestimasi proporsi pasien yang sembuh (cured dan fungsi survival pasien tak sembuh (uncured. Pada kajian ini, model mixture dikembangkan untuk  analisis cure rate berbasis missing data. Ada beberapa metode yang dapat digunakan untuk analisis missing data. Salah satu metode yang dapat digunakan adalah Algoritma EM, Metode ini didasarkan pada 2 (dua langkah, yaitu: (1 Expectation Step dan (2 Maximization Step. Algoritma EM merupakan pendekatan iterasi untuk mempelajari model dari data dengan nilai hilang melalui 4 (empat langkah, yaitu(1 pilih himpunan inisial dari parameter untuk sebuah model, (2 tentukan nilai ekspektasi untuk data hilang, (3 buat induksi parameter model baru dari gabungan nilai ekspekstasi dan data asli, dan (4 jika parameter tidak converged, ulangi langkah 2 menggunakan model baru. Berdasar kajian yang dilakukan dapat ditunjukkan bahwa pada algoritma EM, log-likelihood untuk missing data mengalami kenaikan setelah dilakukan setiap iterasi dari algoritmanya. Dengan demikian berdasar algoritma EM, barisan likelihood konvergen jika likelihood terbatas ke bawah.   Abstract __________________________________________________________________________________________ Model mixture can estimate proportion of recovering patient  and function of patient survival do not recover. At this study, model mixture developed to analyse cure rate bases on missing data. There are some method which applicable to analyse missing data. One of method which can be applied is Algoritma EM, This method based on 2 ( two step, that is: ( 1 Expectation Step and ( 2 Maximization Step. EM Algorithm is approach of iteration to study model from data with value loses through 4 ( four step, yaitu(1 select;chooses initial gathering from parameter for a model, ( 2 determines expectation value for data to lose, ( 3 induce newfangled parameter

  3. Radiation-induced genomic instability: Are epigenetic mechanisms the missing link?

    Energy Technology Data Exchange (ETDEWEB)

    Aypar, Umut; Morgan, William F.; Baulch, Janet E.

    2011-02-01

    Purpose: This review examines the evidence for the hypothesis that epigenetics are involved in the initiation and perpetuation of radiation-induced genomic instability (RIGI). Conclusion: In addition to the extensively studied targeted effects of radiation, it is now apparent that non-targeted delayed effects such as RIGI are also important post-irradiation outcomes. In RIGI, unirradiated progeny cells display phenotypic changes at delayed times after radiation of the parental cell. RIGI is thought to be important in the process of carcinogenesis, however, the mechanism by which this occurs remains to be elucidated. In the genomically unstable clones developed by Morgan and colleagues, radiation-induced mutations, double-strand breaks, or changes in mRNA levels alone could not account for the initiation or perpetuation of RIGI. Since changes in the DNA sequence could not fully explain the mechanism of RIGI, inherited epigenetic changes may be involved. Epigenetics are known to play an important role in many cellular processes and epigenetic aberrations can lead to carcinogenesis. Recent studies in the field of radiation biology suggest that the changes in methylation patterns may be involved in RIGI. Together these clues have led us to hypothesize that epigenetics may be the missing link in understanding the mechanism behind RIGI.

  4. Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.

    Science.gov (United States)

    Pacheva, Iliyana; Ivanov, Ivan; Penkov, Marin; Kancheva, Daliya; Jordanova, Albena; Ivanova, Mariya

    2016-09-01

    A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband. In conclusion, every case with neurodevelopmental delay or arrest, especially when accompanied by seizures, behavioral impairment, muscle hypotonia or extrapyramidal symptoms should undergo MRI with MR spectroscopy. Normal structural MRI doesn't exclude a creatine deficiency syndrome. Biochemical investigations of guanidinoacetate, creatine, and creatinine in body fluid should be done to diagnose cerebral creatine deficiency syndromes and to specify the deficient enzyme. Thus, a treatable disease will not be missed. © 2016 by the Association of Clinical Scientists, Inc.

  5. A dynamic programming approach to missing data estimation using neural networks

    CSIR Research Space (South Africa)

    Nelwamondo, FV

    2013-01-01

    Full Text Available method where dynamic programming is not used. This paper also suggests a different way of formulating a missing data problem such that the dynamic programming is applicable to estimate the missing data....

  6. The use of the bootstrap in the analysis of case-control studies with missing data

    DEFF Research Database (Denmark)

    Siersma, Volkert Dirk; Johansen, Christoffer

    2004-01-01

    nonparametric bootstrap, bootstrap confidence intervals, missing values, multiple imputation, matched case-control study......nonparametric bootstrap, bootstrap confidence intervals, missing values, multiple imputation, matched case-control study...

  7. Amplification of DNA mixtures--Missing data approach

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Eriksen, Poul Svante; Mogensen, Helle Smidt

    2008-01-01

    This paper presents a model for the interpretation of results of STR typing of DNA mixtures based on a multivariate normal distribution of peak areas. From previous analyses of controlled experiments with mixed DNA samples, we exploit the linear relationship between peak heights and peak areas...... DNA samples, it is only possible to observe the cumulative peak heights and areas. Complying with this latent structure, we use the EM-algorithm to impute the missing variables based on a compound symmetry model. That is the measurements are subject to intra- and inter-loci correlations not depending...... on the actual alleles of the DNA profiles. Due to factorization of the likelihood, properties of the normal distribution and use of auxiliary variables, an ordinary implementation of the EM-algorithm solves the missing data problem. We estimate the parameters in the model based on a training data set. In order...

  8. Mac OS X : Tiger edition the missing manual

    CERN Document Server

    Pogue, David

    2005-01-01

    You can set your watch to it: As soon as Apple comes out with another version of Mac OS X, David Pogue hits the streets with another meticulous Missing Manual to cover it with a wealth of detail. The new Mac OS X 10.4, better known as Tiger, is faster than its predecessors, but nothing's too fast for Pogue and Mac OS X: The Missing Manual. There are many reasons why this is the most popular computer book of all time. With its hallmark objectivity, the Tiger Edition thoroughly explores the latest features to grace the Mac OS. Which ones work well and which do not? What should you look for? Th

  9. Leptophobic Boson Signals with Leptons, Jets and Missing Energy

    Energy Technology Data Exchange (ETDEWEB)

    Dobrescu, Bogdan A.

    2015-06-14

    Color-singlet gauge bosons with renormalizable couplings to quarks but not to leptons must interact with additional fermions (''anomalons'') required to cancel the gauge anomalies. Analyzing the decays of such leptophobic bosons into anomalons, I show that they produce final states involving leptons at the LHC. Resonant production of a flavor-universal leptophobic Z' boson leads to cascade decays via anomalons, whose signatures include a leptonically decaying Z, missing energy and several jets. A Z' boson that couples to the right-handed quarks of the first and second generations undergoes cascade decays that violate lepton universality and include signals with two leptons and jets, or with a Higgs boson, a lepton, a W and missing energy.

  10. Accounting for Missing Correlation Coefficients in Fixed-Effects MASEM.

    Science.gov (United States)

    Jak, Suzanne; Cheung, Mike W-L

    2018-01-01

    Meta-analytic structural equation modeling (MASEM) is increasingly applied to advance theories by synthesizing existing findings. MASEM essentially consists of two stages. In Stage 1, a pooled correlation matrix is estimated based on the reported correlation coefficients in the individual studies. In Stage 2, a structural model (such as a path model) is fitted to explain the pooled correlations. Frequently, the individual studies do not provide all the correlation coefficients between the research variables. In this study, we modify the currently optimal MASEM-method to deal with missing correlation coefficients, and compare its performance with existing methods. This study is the first to evaluate the performance of fixed-effects MASEM methods under different levels of missing correlation coefficients. We found that the often used univariate methods performed very poorly, while the multivariate methods performed well overall.

  11. Managing missing scores on the Roland Morris Disability Questionnaire

    DEFF Research Database (Denmark)

    Lauridsen, Henrik Hein

    2009-01-01

    systematically dropped from each person’s raw scores and the standardized score was proportionally recalculated. This process was repeated until 6 questions had been dropped from each person’s questionnaire. ·         The error (absolute and percentage) introduced by each level of dropped question was calculated......MANAGING MISSING SCORES ON THE ROLAND MORRIS DISABILITY QUESTIONNAIRE  Peter Kenta and Henrik Hein Lauridsenb  aBack Research Centre and bInstitute of Sports Science and Clinical Biomechanics, University of Southern Denmark Background There is no standard method to calculate Roland Morris...... Disability Questionnaire (RMDQ) sum scores when one or more questions have not been answered. However, missing data are common on the RMDQ and the current options are: calculate a sum score regardless of unanswered questions, reject all data containing unanswered questions, or to impute scores. Other...

  12. Closed central slip injuries--a missed diagnosis?

    LENUS (Irish Health Repository)

    Nugent, N

    2011-09-01

    The extensor apparatus of the finger is a complex structure and injury can lead to significant digital dysfunction. Closed central slip injuries may be missed or diagnosis delayed because of lack of an open wound and often no radiographic abnormality, and can result in boutonniere deformities if untreated. This study aimed to quantify the number of patients attending with closed central slip injuries and to ascertain if the initial diagnosis was correct. The number of patients presenting to us over a 6 month period was recorded. The original diagnosis, time to diagnosis of central slip injury and the presence\\/absence of a boutonniere deformity were recorded. Ten patients were included in the study. Seven (70%) injuries were due to sport. Eight (80%) had a delayed diagnosis of central slip injury. Six (60%) had previously presented to general practitioners or emergency departments. Seven (70%) had boutonniere deformities. Closed central slip injuries can be missed. Simple clinical tests can diagnose central slip disruption.

  13. Mathematics Intensive Summer Session (MISS). Final technical report

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1998-11-01

    This final technical report appears in two parts: the report for the 1995 summer MISS program and the report for the 1996 summer MISS program. Copies of the US Department of Energy Pre-Freshman Enrichment Program 1995 Entry Form and 1996 Entry Form completed by all participants were sent to the Oak Ridge Institute for Science and Education in the fall of 1995 and 1996 respectively. Those forms are on file should they be needed. Attached also is a copy of the Summary of ideas for panel discussions, problem-solving sessions, or small group discussions presented at the Department of Energy Oak Ridge Institute for Science and Education Pre-Freshman Enrichment Program Project Directors Meeting held in San Antonio, TX, November 12--14, 1995.

  14. Common Β- Thalassaemia Mutations in

    Directory of Open Access Journals (Sweden)

    P Azarfam

    2005-01-01

    Full Text Available Introduction: β –Thalassaemia was first explained by Thomas Cooly as Cooly’s anaemia in 1925. The β- thalassaemias are hereditary autosomal disorders with decreased or absent β-globin chain synthesis. The most common genetic defects in β-thalassaemias are caused by point mutations, micro deletions or insertions within the β-globin gene. Material and Methods: In this research , 142 blood samples (64 from childrens hospital of Tabriz , 15 samples from Shahid Gazi hospital of Tabriz , 18 from Urumia and 45 samples from Aliasghar hospital of Ardebil were taken from thalassaemic patients (who were previously diagnosed .Then 117 non-familial samples were selected . The DNA of the lymphocytes of blood samples was extracted by boiling and Proteinase K- SDS procedure, and mutations were detected by ARMS-PCR methods. Results: From the results obtained, eleven most common mutations,most of which were Mediterranean mutations were detected as follows; IVS-I-110(G-A, IVS-I-1(G-A ،IVS-I-5(G-C ,Frameshift Codon 44 (-C,( codon5(-CT,IVS-1-6(T-C, IVS-I-25(-25bp del ,Frameshift 8.9 (+G ,IVS-II-1(G-A ,Codon 39(C-T, Codon 30(G-C the mutations of the samples were defined. The results showed that Frameshift 8.9 (+G, IVS-I-110 (G-A ,IVS-II-I(G-A, IVS-I-5(G-C, IVS-I-1(G-A , Frameshift Codon 44(-C , codon5(-CT , IVS-1-6(T-C , IVS-I-25(-25bp del with a frequency of 29.9%, 25.47%,17.83%, 7.00%, 6.36% , 6.63% , 3.8% , 2.5% , 0.63% represented the most common mutations in North - west Iran. No mutations in Codon 39(C-T and Codon 30(G-C were detected. Cunclusion: The frequency of the same mutations in patients from North - West of Iran seems to be different as compared to other regions like Turkey, Pakistan, Lebanon and Fars province of Iran. The pattern of mutations in this region is more or less the same as in the Mediterranean region, but different from South west Asia and East Asia.

  15. Characteristics of Missing Physical Activity Data in Children and Youth

    Science.gov (United States)

    Zhuang, Jie; Chen, Peijie; Wang, Chao; Huang, Liang; Zhu, Zheng; Zhang, Wenjie; Fan, Xiang

    2013-01-01

    Purpose: The purpose of this study was to investigate the characteristics of missing physical activity (PA) data of children and youth. Method: PA data from the Chinese City Children and Youth Physical Activity Study ("N" = 2,758; 1,438 boys and 1,320 girls; aged 9-17 years old) were used for the study. After the data were sorted by the…

  16. Missing Peroxy Radical Sources Within a Rural Forest Canopy

    Science.gov (United States)

    Wolfe, G. M.; Cantrell, C.; Kim, S.; Mauldin, R. L., III; Karl, T.; Harley, P.; Turnipseed, A.; Zheng, W.; Flocke, F.; Apel, E. C.; hide

    2013-01-01

    Organic peroxy (RO2) and hydroperoxy (HO2) radicals are key intermediates in the photochemical processes that generate ozone, secondary organic aerosol and reactive nitrogen reservoirs throughout the troposphere. In regions with ample biogenic hydrocarbons, the richness and complexity of peroxy radical chemistry presents a significant challenge to current-generation models, especially given the scarcity of measurements in such environments. We present peroxy radical observations acquired within a Ponderosa pine forest during the summer 2010 Bio-hydro-atmosphere interactions of Energy, Aerosols, Carbon, H2O, Organics and Nitrogen - Rocky Mountain Organic Carbon Study (BEACHON-ROCS). Total peroxy radical mixing ratios reach as high as 180 pptv and are among the highest yet recorded. Using the comprehensive measurement suite to constrain a near-explicit 0-D box model, we investigate the sources, sinks and distribution of peroxy radicals below the forest canopy. The base chemical mechanism underestimates total peroxy radicals by as much as a factor of 3. Since primary reaction partners for peroxy radicals are either measured (NO) or under-predicted (HO2 and RO2, i.e. self-reaction), missing sources are the most likely explanation for this result. A close comparison of model output with observations reveals at least two distinct source signatures. The first missing source, characterized by a sharp midday maximum and a strong dependence on solar radiation, is consistent with photolytic production of HO2. The diel profile of the second missing source peaks in the afternoon and suggests a process that generates RO2 independently of sun-driven photochemistry, such as ozonolysis of reactive hydrocarbons. The maximum magnitudes of these missing sources (approximately 120 and 50 pptv min-1, respectively) are consistent with previous observations alluding to unexpectedly intense oxidation within forests. We conclude that a similar mechanism may underlie many such observations.

  17. MMAPS: Missing-Mass A-Prime Search

    OpenAIRE

    Alexander Jim

    2017-01-01

    An experiment is proposed to search for dark photons via electron-positron annihilation into photon plus dark photon. The dark photon would be reconstructed in a missing-mass technique, thus ensuring complete model independent. The Cornell University synchrotron can provide a positron beam suitable to probe the interesting mass range for dark photons. A detector based on CsI calorimetry is proposed, and the potential experimental reach in coupling constant and dark photon mass is shown.

  18. Diagnostic miss rate for colorectal cancer: an audit.

    Science.gov (United States)

    Than, Mary; Witherspoon, Jolene; Shami, Javed; Patil, Prachi; Saklani, Avanish

    2015-01-01

    Colorectal cancer (CRC) is a common cancer worldwide. While screening improves survival, avoiding delayed diagnosis in symptomatic patients is crucial. Computed tomographic colonography (CTC) or colonoscopy is recommended as first-line investigation and most societies recommend counseling patients undergoing colonoscopy about a miss rate of 5%. This audit evaluates "miss rate" of colorectal investigations, which have led to diagnostic delay in symptomatic cases in a district general hospital in the United Kingdom. This is a retrospective review of 150 consecutive CRC cases presenting between August 2010 and July 2011. Evidence of bowel investigations done in the 3 years prior to diagnosis was obtained from computerized health records. Data regarding previous bowel investigations such as colonoscopy, CTC, double contrast barium enema (DCBE), and CT abdomen/pelvis were collected. 6.7% cases were identified via screening pathway while 93% were identified through symptomatic pathway. 17% (26/150) of newly diagnosed CRC had been investigated in the preceding 3 years. Of these, 8% (12/150) had false negative results. The false negative rate for CRC diagnosis was 3.5% for colonoscopy (3/85), 6.7% for CTC (1/17), 9.4% for CT (5/53), and 26.7% for DCBE (4/15). Some patients had a missed diagnosis despite more than one diagnostic test. Time delay to diagnosis ranged from 21-456 days. 17% of patients diagnosed with CRC had been investigated in the previous 3 years. Higher miss rate of barium enema should preclude its use as a first-line modality to investigate CRC.

  19. The missing link: leadership, identity, and the social brain.

    Science.gov (United States)

    van Vugt, Mark

    2012-05-01

    How the cohesion of a social network is being maintained in spite of having different layers of social interaction is an important question. I argue that the evolution of both (political) hierarchy and social identity play a crucial role in scaling up and bonding social networks. Together they are missing links in the social brain hypothesis, and further research is needed to understand the functions of leadership and social identity. ©2011 The British Psychological Society.

  20. Estimation of Poisson-Dirichlet Parameters with Monotone Missing Data

    Directory of Open Access Journals (Sweden)

    Xueqin Zhou

    2017-01-01

    Full Text Available This article considers the estimation of the unknown numerical parameters and the density of the base measure in a Poisson-Dirichlet process prior with grouped monotone missing data. The numerical parameters are estimated by the method of maximum likelihood estimates and the density function is estimated by kernel method. A set of simulations was conducted, which shows that the estimates perform well.

  1. The Missing Response to Selection in the Wild

    OpenAIRE

    Pujol, Benoit; Blanchet, Simon; Charmantier, Anne; Danchin, Etienne; Facon, Benoit; Marrot, Pascal; Roux, Fabrice; Scotti, Ivan; Teplitsky, Céline; Thomson, Caroline E.; Winney, Isabel

    2018-01-01

    Although there are many examples of contemporary directional selection, evidence for responses to selection that match predictions are often missing in quantitative genetic studies of wild populations. This is despite the presence of genetic variation and selection pressures – theoretical prerequisites for the response to selection. This conundrum can be explained by statistical issues with accurate parameter estimation, and by biological mechanisms that interfere with the response to selecti...

  2. Baseline Predictors of Missed Visits in the Look AHEAD Study

    Science.gov (United States)

    Fitzpatrick, Stephanie L.; Jeffery, Robert; Johnson, Karen C.; Roche, Cathy C.; Van Dorsten, Brent; Gee, Molly; Johnson, Ruby Ann; Charleston, Jeanne; Dotson, Kathy; Walkup, Michael P.; Hill-Briggs, Felicia; Brancati, Frederick L.

    2013-01-01

    Objective To identify baseline attributes associated with consecutively missed data collection visits during the first 48 months of Look AHEAD—a randomized, controlled trial in 5145 overweight/obese adults with type 2 diabetes designed to determine the long-term health benefits of weight loss achieved by lifestyle change. Design and Methods The analyzed sample consisted of 5016 participants who were alive at month 48 and enrolled at Look AHEAD sites. Demographic, baseline behavior, psychosocial factors, and treatment randomization were included as predictors of missed consecutive visits in proportional hazard models. Results In multivariate Cox proportional hazard models, baseline attributes of participants who missed consecutive visits (n=222) included: younger age ( Hazard Ratio [HR] 1.18 per 5 years younger; 95% Confidence Interval 1.05, 1.30), higher depression score (HR 1.04; 1.01, 1.06), non-married status (HR 1.37; 1.04, 1.82), never self-weighing prior to enrollment (HR 2.01; 1.25, 3.23), and randomization to minimal vs. intensive lifestyle intervention (HR 1.46; 1.11, 1.91). Conclusions Younger age, symptoms of depression, non-married status, never self-weighing, and randomization to minimal intervention were associated with a higher likelihood of missing consecutive data collection visits, even in a high-retention trial like Look AHEAD. Whether modifications to screening or retention efforts targeted to these attributes might enhance long-term retention in behavioral trials requires further investigation. PMID:23996977

  3. Something Missing. Czech Society and Transcarpathia after 1989

    Czech Academy of Sciences Publication Activity Database

    Zahradníček, Tomáš

    2017-01-01

    Roč. 5, č. 1 (2017), s. 72-80 ISSN 2336-3312 Institutional support: RVO:68378114 Keywords : Transcarpathia * borders * Czechoslovakia Subject RIV: AB - History OBOR OECD: History (history of science and technology to be 6.3, history of specific sciences to be under the respective headings) http://www.slu.cz/fvp/cz/web-cep/archiv-casopisu/2017-vol-5-no.1/zahradnicek_something-missing

  4. SQSTM1 Mutations and Glaucoma.

    Directory of Open Access Journals (Sweden)

    Todd E Scheetz

    Full Text Available Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN and TANK binding kinase 1 (TBK1, cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase that phosphorylates OPTN, an autophagy receptor, which ultimately activates autophagy. The sequestosome (SQSTM1 gene also encodes an autophagy receptor and also is a target of TBK1 phosphorylation. Consequently, we hypothesized that mutations in SQSTM1 may also cause NTG. We tested this hypothesis by searching for glaucoma-causing mutations in a cohort of NTG patients (n = 308 and matched controls (n = 157 using Sanger sequencing. An additional 1098 population control samples were also analyzed using whole exome sequencing. A total of 17 non-synonymous mutations were detected which were not significantly skewed between cases and controls when analyzed separately, or as a group (p > 0.05. These data suggest that SQSTM1 mutations are not a common cause of NTG.

  5. Mutation breeding in Philippine fruits

    International Nuclear Information System (INIS)

    Espino, R.R.C.

    1987-09-01

    Studies were made to establish standard conditions for mutation induction by gamma-irradiation to be performed in combination with in-vitro culture for banana and citrus spp. Besides this, radio-sensitivity of seeds and/or plantlets of mango, sugar apple, soursop, lanzones and Jack fruit was investigated and primary observation on the occurrence of mutation was made. For the mutagenesis of banana shoot tip cultures, radio-sensitivity of plantlets derived from the culture as well as fresh-cultured shoots was examined and phenotypes indicative of mutation, such as chlorophyl streaking, slow growth, pigmentation and varied bunch orientation were recorded. Isozyme analysis for mutated protein structure was not conclusive. In the in-vitro culture of Citrus spp., seeds placed on fresh media as well as germinating seeds and two-leaf stage seedlings in test tubes were examined for their radio-sensitivity. Irradiated materials were propagated for further observation. In these two crops, basic methodology for mutation induction with combined use of in-vitro culture and gamma-irradiation was established. In mango, sugar apple, soursop, lanzones and Jack fruit, basic data on radiosensitivity were obtained. In mango, leaf abnormalities were observed after the treatment of scions

  6. Predicting appointment misses in hospitals using data analytics

    Science.gov (United States)

    Karpagam, Sylvia; Ma, Nang Laik

    2017-01-01

    Background There is growing attention over the last few years about non-attendance in hospitals and its clinical and economic consequences. There have been several studies documenting the various aspects of non-attendance in hospitals. Project Predicting Appoint Misses (PAM) was started with the intention of being able to predict the type of patients that would not come for appointments after making bookings. Methods Historic hospital appointment data merged with “distance from hospital” variable was used to run Logistic Regression, Support Vector Machine and Recursive Partitioning to decide the contributing variables to missed appointments. Results Variables that are “class”, “time”, “demographics” related have an effect on the target variable, however, prediction models may not perform effectively due to very subtle influence on the target variable. Previously assumed major contributors like “age”, “distance” did not have a major effect on the target variable. Conclusions With the given data it will be very difficult to make any moderate/strong prediction of the Appointment misses. That being said with the help of the cut off we are able to capture all of the “appointment misses” in addition to also capturing the actualized appointments. PMID:28567409

  7. Missing Data Bias on a Selective Hedging Strategy

    Directory of Open Access Journals (Sweden)

    Kiss Gábor Dávid

    2017-03-01

    Full Text Available Foreign exchange rates affect corporate profitability both on the macro and cash-flow level. The current study analyses the bias of missing data on a selective hedging strategy, where currency options are applied in case of Value at Risk (1% signs. However, there can be special occasions when one or some data is missing due to lack of a trading activity. This paper focuses on the impact of different missing data handling methods on GARCH and Value at Risk model parameters, because of selective hedging and option pricing based on them. The main added value of the current paper is the comparison of the impact of different methods, such as listwise deletion, mean substitution, and maximum likelihood based Expectation Maximization, on risk management because this subject has insufficient literature. The current study tested daily closing data of floating currencies from Kenya (KES, Ghana (GHS, South Africa (ZAR, Tanzania (TZS, Uganda (UGX, Gambia (GMD, Madagascar (MGA and Mozambique (MZN in USD denomination against EUR/USD rate between March 8, 2000 and March 6, 2015 acquired from the Bloomberg database. Our results suggested the biases of missingness on Value at Risk and volatility models, presenting significant differences among the number of extreme fluctuations or model parameters. A selective hedging strategy can have different expenditures due to the choice of method. This paper suggests the usage of mean substitution or listwise deletion for daily financial time series due to their tendency to have a close to zero first momentum

  8. Ambivalence and Ambiguity in The Autobiography of Miss Jane Pittman

    Directory of Open Access Journals (Sweden)

    Monica Michlin

    2006-05-01

    Full Text Available This close reading of the text highlights how Miss Jane, in her double role as protagonist and narrator, shows considerable ambivalence towards friend and foe alike, with the result that the apparently transparent ideological meaning of entire episodes is blurred by what some critics have merely put down to “conservatism.” I examine Miss Jane’s almost constant suppression of emotion, and frequent displays of ambivalence towards other black people; her ambiguous relationship to oppressive, but familiar whites like Albert Cluveau or Robert Samson; and her conflicted relation to black heroes and heroics. Is the leading character a variation on the “mammy” who has internalized racist figures of speech, and uses contradictory images that undermine black heroics and validate white oppression? Or is Gaines’s point to undo the “retrick” of heroics and of alienation alike, and, against of backdrop of constant, ordinary destruction of black lives, to cast the adult Miss Jane as a Brer Rabbit-like figure, for whom survival and resistance are both dialectically connected and opposed? Is there a contradiction between her “progress” towards resistance shown in the last section, and her metadiscursive comments in the present, and does her literally walking out of her own story give a conclusive meaning to her narrative, or does it point to the author’s not having been able to resolve the ambivalence and ambiguities within the text?

  9. Reconstruction of missing daily streamflow data using dynamic regression models

    Science.gov (United States)

    Tencaliec, Patricia; Favre, Anne-Catherine; Prieur, Clémentine; Mathevet, Thibault

    2015-12-01

    River discharge is one of the most important quantities in hydrology. It provides fundamental records for water resources management and climate change monitoring. Even very short data-gaps in this information can cause extremely different analysis outputs. Therefore, reconstructing missing data of incomplete data sets is an important step regarding the performance of the environmental models, engineering, and research applications, thus it presents a great challenge. The objective of this paper is to introduce an effective technique for reconstructing missing daily discharge data when one has access to only daily streamflow data. The proposed procedure uses a combination of regression and autoregressive integrated moving average models (ARIMA) called dynamic regression model. This model uses the linear relationship between neighbor and correlated stations and then adjusts the residual term by fitting an ARIMA structure. Application of the model to eight daily streamflow data for the Durance river watershed showed that the model yields reliable estimates for the missing data in the time series. Simulation studies were also conducted to evaluate the performance of the procedure.

  10. MISSE 6 Stressed Polymers Experiment Atomic Oxygen Erosion Data

    Science.gov (United States)

    deGroh, Kim K.; Banks, Bruce A.; Mitchell, Gianna G.; Yi, Grace T.; Guo, Aobo; Ashmeade, Claire C.; Roberts, Lily M.; McCarthy, Catherine E.; Sechkar, Edward A.

    2013-01-01

    Polymers and other oxidizable materials used on the exterior of spacecraft in the low Earth orbit (LEO) space environment can be eroded away by reaction with atomic oxygen (AO). For spacecraft design, it is important to know the LEO AO erosion yield, Ey (volume loss per incident oxygen atom), of materials susceptible to AO erosion. The Stressed Polymers Experiment was developed and flown as part of the Materials International Space Station Experiment 6 (MISSE 6) to compare the AO erosion yields of stressed and non-stressed polymers to determine if erosion is dependent upon stress while in LEO. The experiment contained 36 thin film polymer samples that were exposed to ram AO for 1.45 years. This paper provides an overview of the Stressed Polymers Experiment with details on the polymers flown, the characterization techniques used, the AO fluence, and the erosion yield results. The MISSE 6 data are compared to data for similar samples flown on previous MISSE missions to determine fluence or solar radiation effects on erosion yield.

  11. Estimating Potential Evapotranspiration by Missing Temperature Data Reconstruction

    Directory of Open Access Journals (Sweden)

    Eladio Delgadillo-Ruiz

    2015-01-01

    Full Text Available This work studies the statistical characteristics of potential evapotranspiration calculations and their relevance within the water balance used to determine water availability in hydrological basins. The purpose of this study was as follows: first, to apply a missing data reconstruction scheme in weather stations of the Rio Queretaro basin; second, to reduce the generated uncertainty of temperature data: mean, minimum, and maximum values in the evapotranspiration calculation which has a paramount importance in the manner of obtaining the water balance at any hydrological basin. The reconstruction of missing data was carried out in three steps: (1 application of a 4-parameter sinusoidal type regression to temperature data, (2 linear regression to residuals to obtain a regional behavior, and (3 estimation of missing temperature values for a certain year and during a certain season within the basin under study; estimated and observed temperature values were compared. Finally, using the obtained temperature values, the methods of Hamon, Papadakis, Blaney and Criddle, Thornthwaite, and Hargreaves were employed to calculate potential evapotranspiration that was compared to the real observed values in weather stations. With the results obtained from the application of this procedure, the surface water balance was corrected for the case study.

  12. Generation and characterization of Kctd15 mutations in zebrafish.

    Directory of Open Access Journals (Sweden)

    Alison Heffer

    Full Text Available Potassium channel tetramerization domain containing 15 (Kctd15 was previously found to have a role in early neural crest (NC patterning, specifically delimiting the region where NC markers are expressed via repression of transcription factor AP-2a and inhibition of Wnt signaling. We used transcription activator-like effector nucleases (TALENs to generate null mutations in zebrafish kctd15a and kctd15b paralogs to study the in vivo role of Kctd15. We found that while deletions producing frame-shift mutations in each paralog showed no apparent phenotype, kctd15a/b double mutant zebrafish are smaller in size and show several phenotypes including some affecting the NC, such as expansion of the early NC domain, increased pigmentation, and craniofacial defects. Both melanophore and xanthophore pigment cell numbers and early markers are up-regulated in the double mutants. While we find no embryonic craniofacial defects, adult mutants have a deformed maxillary segment and missing barbels. By confocal imaging of mutant larval brains we found that the torus lateralis (TLa, a region implicated in gustatory networks in other fish, is absent. Ablation of this brain tissue in wild type larvae mimics some aspects of the mutant growth phenotype. Thus kctd15 mutants show deficits in the development of both neural crest derivatives, and specific regions within the central nervous system, leading to a strong reduction in normal growth rates.

  13. Social Media Use and the Fear of Missing out (FoMO) While Studying Abroad

    Science.gov (United States)

    Hetz, Patricia R.; Dawson, Christi L.; Cullen, Theresa A.

    2015-01-01

    Fear of Missing Out (FoMO) is a social construct that examines whether students are concerned that they are missing out on experiences that others are having, and we examined this relation to their concerns over missing activities in their home culture. This mixed-methods pilot study sought to determine how social media affects the study abroad…

  14. 78 FR 2256 - Extension of the Extended Missing Parts Pilot Program

    Science.gov (United States)

    2013-01-10

    ...] Extension of the Extended Missing Parts Pilot Program AGENCY: United States Patent and Trademark Office... pilot program (Extended Missing Parts Pilot Program) in which an applicant, under certain conditions... nonprovisional application. The Extended Missing Parts Pilot Program benefits applicants by permitting additional...

  15. Statistical analysis of longitudinal quality of life data with missing measurements

    NARCIS (Netherlands)

    Zwinderman, A. H.

    1992-01-01

    The statistical analysis of longitudinal quality of life data in the presence of missing data is discussed. In cancer trials missing data are generated due to the fact that patients die, drop out, or are censored. These missing data are problematic in the monitoring of the quality of life during the

  16. Prevalence and Correlates of Missing Meals Among High School Students-United States, 2010.

    Science.gov (United States)

    Demissie, Zewditu; Eaton, Danice K; Lowry, Richard; Nihiser, Allison J; Foltz, Jennifer L

    2018-01-01

    To determine the prevalence and correlates of missing meals among adolescents. The 2010 National Youth Physical Activity and Nutrition Study, a cross-sectional study. School based. A nationally representative sample of 11 429 high school students. Breakfast, lunch, and dinner consumption; demographics; measured and perceived weight status; physical activity and sedentary behaviors; and fruit, vegetable, milk, sugar-sweetened beverage, and fast-food intake. Prevalence estimates for missing breakfast, lunch, or dinner on ≥1 day during the past 7 days were calculated. Associations between demographics and missing meals were tested. Associations of lifestyle and dietary behaviors with missing meals were examined using logistic regression controlling for sex, race/ethnicity, and grade. In 2010, 63.1% of students missed breakfast, 38.2% missed lunch, and 23.3% missed dinner; the prevalence was highest among female and non-Hispanic black students. Being overweight/obese, perceiving oneself to be overweight, and video game/computer use were associated with increased risk of missing meals. Physical activity behaviors were associated with reduced risk of missing meals. Students who missed breakfast were less likely to eat fruits and vegetables and more likely to consume sugar-sweetened beverages and fast food. Breakfast was the most frequently missed meal, and missing breakfast was associated with the greatest number of less healthy dietary practices. Intervention and education efforts might prioritize breakfast consumption.

  17. Mutation in cultured mammalian cells

    International Nuclear Information System (INIS)

    Nakamura, N.; Okada, S.

    1982-01-01

    Mammalian cell cultures were exposed to gamma-rays at various dose rates. Dose-rate effects were observed in cultured somatic cells of the mouse for cell killing and mutations resistant to 6-thioguanine (TGsup(r)) and to methotrexate (MTXsup(r)). Linear quadratic model may be applied to cell killing and TGsup(r) mutations in some cases but can not explain the whole data. Results at low doses with far low dose-rate were not predictable from data at high doses with acute or chronic irradiation. Radioprotective effects of dimethyl sulfoxide were seen only after acute exposure but not after chronic one, suggesting that damages by indirect action of radiations may be potentially reparable by cells. TGsup(r) mutations seem to contain gross structural changes whereas MTXsup(r) ones may have smaller alterations. (Namekawa, K.)

  18. Statistical analysis with missing exposure data measured by proxy respondents: a misclassification problem within a missing-data problem.

    Science.gov (United States)

    Shardell, Michelle; Hicks, Gregory E

    2014-11-10

    In studies of older adults, researchers often recruit proxy respondents, such as relatives or caregivers, when study participants cannot provide self-reports (e.g., because of illness). Proxies are usually only sought to report on behalf of participants with missing self-reports; thus, either a participant self-report or proxy report, but not both, is available for each participant. Furthermore, the missing-data mechanism for participant self-reports is not identifiable and may be nonignorable. When exposures are binary and participant self-reports are conceptualized as the gold standard, substituting error-prone proxy reports for missing participant self-reports may produce biased estimates of outcome means. Researchers can handle this data structure by treating the problem as one of misclassification within the stratum of participants with missing self-reports. Most methods for addressing exposure misclassification require validation data, replicate data, or an assumption of nondifferential misclassification; other methods may result in an exposure misclassification model that is incompatible with the analysis model. We propose a model that makes none of the aforementioned requirements and still preserves model compatibility. Two user-specified tuning parameters encode the exposure misclassification model. Two proposed approaches estimate outcome means standardized for (potentially) high-dimensional covariates using multiple imputation followed by propensity score methods. The first method is parametric and uses maximum likelihood to estimate the exposure misclassification model (i.e., the imputation model) and the propensity score model (i.e., the analysis model); the second method is nonparametric and uses boosted classification and regression trees to estimate both models. We apply both methods to a study of elderly hip fracture patients. Copyright © 2014 John Wiley & Sons, Ltd.

  19. Missed losses loom larger than missed gains: Electrodermal reactivity to decision choices and outcomes in a gambling task.

    Science.gov (United States)

    Wu, Yin; Van Dijk, Eric; Aitken, Mike; Clark, Luke

    2016-04-01

    Loss aversion is a defining characteristic of prospect theory, whereby responses are stronger to losses than to equivalently sized gains (Kahneman & Tversky Econometrica, 47, 263-291, 1979). By monitoring electrodermal activity (EDA) during a gambling task, in this study we examined physiological activity during risky decisions, as well as to both obtained (e.g., gains and losses) and counterfactual (e.g., narrowly missed gains and losses) outcomes. During the bet selection phase, EDA increased linearly with bet size, highlighting the role of somatic signals in decision-making under uncertainty in a task without any learning requirement. Outcome-related EDA scaled with the magnitudes of monetary wins and losses, and losses had a stronger impact on EDA than did equivalently sized wins. Narrowly missed wins (i.e., near-wins) and narrowly missed losses (i.e., near-losses) also evoked EDA responses, and the change of EDA as a function of the size of the missed outcome was modestly greater for near-losses than for near-wins, suggesting that near-losses have more impact on subjective value than do near-wins. Across individuals, the slope for choice-related EDA (as a function of bet size) correlated with the slope for outcome-related EDA as a function of both the obtained and counterfactual outcome magnitudes, and these correlations were stronger for loss and near-loss conditions than for win and near-win conditions. Taken together, these asymmetrical EDA patterns to objective wins and losses, as well as to near-wins and near-losses, provide a psychophysiological instantiation of the value function curve in prospect theory, which is steeper in the negative than in the positive domain.

  20. Thalassemia mutations in Gaziantep, Turkey

    African Journals Online (AJOL)

    STORAGESEVER

    2010-02-22

    Feb 22, 2010 ... Table 3. Frequency of β-thalassemia mutations in the Eastern Mediterranean. Mutation. This study Turkey Cyprus Greece Syria Palestine Bulgaria Azerbaijan Iran Iraq. IVS 1.110 (G>A). 29.1. 39.3. 79.7. 42.1. 24.1. 17.6. 24.2. 20.2. 4.8 1.9. IVS 2.1 (G>A). 12.3. 4.7. -. 3.3. 4.2. 2.9. -. -. 33.9 18.3. IVS 1.1 (G>A).

  1. Missed nursing care and its relationship with confidence in delegation among hospital nurses.

    Science.gov (United States)

    Saqer, Tahani J; AbuAlRub, Raeda F

    2018-04-06

    To (i) identify the types and reasons for missed nursing care among Jordanian hospital nurses; (ii) identify predictors of missed nursing care based on study variables; and (iii) examine the relationship between nurses' confidence in delegation and missed nursing care. Missed nursing care is a global concern for nurses and nurse administrators. Investigating the relation between the confidence in delegation and missed nursing care might help in designing strategies that enable nurses to minimise missed care and enhance quality of services. A correlational research design was used for this study. A convenience sample of 362 hospital nurses completed the missed nursing care survey, and confidence and intent to delegate scale. The results of the study revealed that ambulating and feeding patients on time, doing mouth care and attending interdisciplinary care conferences were the most frequent types of missed care. The mean score for missed nursing care was (2.78) on a scale from 1-5. The most prevalent reasons for missed care were "labour resources, followed by material resources, and then communication". Around 45% of the variation in the perceived level of "missed nursing care" was explained by background variables and perceived reasons for missed nursing. However, the relationship between confidence in delegation and missed care was insignificant. The results of this study add to the body of international literature on most prevalent types and reasons for missed nursing care in a different cultural context. Highlighting most prevalent reasons for missed nursing care could help nurse administrators in designing responsive strategies to eliminate or reduces such reasons. © 2018 John Wiley & Sons Ltd.

  2. Energy parasites trigger oncogene mutation

    Czech Academy of Sciences Publication Activity Database

    Pokorný, Jiří; Pokorný, Jan; Jandová, Anna; Kobilková, J.; Vrba, J.; Vrba, J. jr.

    2016-01-01

    Roč. 92, č. 10 (2016), s. 577-582 ISSN 0955-3002 R&D Projects: GA ČR GA16-12757S Institutional support: RVO:68378271 ; RVO:67985882 Keywords : cancer initiation * cell-mediated immunity * coherent electromagnetic states * genome somatic mutation * LDH virus * parasitic energy consumption Subject RIV: BO - Biophysics Impact factor: 1.992, year: 2016

  3. Induced mutation of Dendrobium orchid

    International Nuclear Information System (INIS)

    Sakinah Ariffin; Mohd Nazir Basiran

    2000-01-01

    Dendrobiiim orchids serve as the main orchid cut flower export of Malaysia. The wide range of colour and forms presently available in the market are obtained through hybridisation. Induced mutation breeding program was initiated on a commercial variety Dendrobium 'Sonia Kai' to explore the possibilities of obtaining new colour and forms. Matured seeds from self pollination were cultured and irradiated at 35 Gy at the protocorm-like bodies (PLBS) stage. Selection of induced mutations was done after the first flowering of the plants regenerated from the irradiated protocorms. Results showed changes in flower colour, shape and size. Most of these chances are expressed in different combinations in the petals, sepals and lip of the flowers. Thus, resulting. in a very wide spectrum of mutations. Some of these chances are not stable. To date, mutants that showed stable characteristics changes are grouped into 11 categories based on flower colour and form. These results show that the combination of its vitro technique and induced mutation can be applied in orchid breeding to produce new interesting and attractive variety for the market

  4. Mutational specificity of SOS mutagenesis

    International Nuclear Information System (INIS)

    Kato, Takeshi

    1986-01-01

    In an approach to the isolation of mutants of E. coli unable to produce mutations by ultraviolet light, the author has found new umuC-mutants. Their properties could be explained by ''SOS hypothesis of Radman and Witkin'', which has now been justified by many investigators. Analysis of the umuC region of E. coli chromosome cloned in pSK 100 has led to the conclusion that two genes, umuD and umuC, having the capacity of mutation induction express in the same mechanism as that of SOS genes, which is known to be inhibited by LexA protein bonding to ''SOS box'' found at promotor region. Suppressor analysis for mutational specificity has revealed: (i) umuDC-independent mutagens, such as EMS and (oh) 4 Cy, induce selected base substitution alone; and (ii) umuDC-dependent mutagens, such as X-rays and gamma-rays, induce various types of base substitution simultaneously, although they have mutational specificity. In the umuDC-dependent processes of basechange mutagenesis, the spectra of base substitution were a mixture of base substitution reflecting the specific base damages induced by individual mutagens and nonspecific base substitution. In conclusion, base substitution plays the most important role in umuDC-dependent mutagenesis, although mutagenesis of umuDC proteins remains uncertain. (Namekawa, K.)

  5. Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'.

    Science.gov (United States)

    Kling, Daniel; Egeland, Thore; Piñero, Mariana Herrera; Vigeland, Magnus Dehli

    2017-11-01

    Methods and implementations of DNA-based identification are well established in several forensic contexts. However, assessing the statistical power of these methods has been largely overlooked, except in the simplest cases. In this paper we outline general methods for such power evaluation, and apply them to a large set of family reunification cases, where the objective is to decide whether a person of interest (POI) is identical to the missing person (MP) in a family, based on the DNA profile of the POI and available family members. As such, this application closely resembles database searching and disaster victim identification (DVI). If parents or children of the MP are available, they will typically provide sufficient statistical evidence to settle the case. However, if one must resort to more distant relatives, it is not a priori obvious that a reliable conclusion is likely to be reached. In these cases power evaluation can be highly valuable, for instance in the recruitment of additional family members. To assess the power in an identification case, we advocate the combined use of two statistics: the Probability of Exclusion, and the Probability of Exceedance. The former is the probability that the genotypes of a random, unrelated person are incompatible with the available family data. If this is close to 1, it is likely that a conclusion will be achieved regarding general relatedness, but not necessarily the specific relationship. To evaluate the ability to recognize a true match, we use simulations to estimate exceedance probabilities, i.e. the probability that the likelihood ratio will exceed a given threshold, assuming that the POI is indeed the MP. All simulations are done conditionally on available family data. Such conditional simulations have a long history in medical linkage analysis, but to our knowledge this is the first systematic forensic genetics application. Also, for forensic markers mutations cannot be ignored and therefore current models and

  6. Association of the Nurse Work Environment, Collective Efficacy, and Missed Care.

    Science.gov (United States)

    Smith, Jessica G; Morin, Karen H; Wallace, Leigh E; Lake, Eileen T

    2018-06-01

    Missed nursing care is a significant threat to quality patient care. Promoting collective efficacy within nurse work environments could decrease missed care. The purpose was to understand how missed care is associated with nurse work environments and collective efficacy of hospital staff nurses. A cross-sectional, convenience sample was obtained through online surveys from registered nurses working at five southwestern U.S. hospitals. Descriptive, correlational, regression, and path analyses were conducted ( N = 233). The percentage of nurses who reported that at least one care activity was missed frequently or always was 94%. Mouth care (36.0% of nurses) and ambulation (35.3%) were missed frequently or always. Nurse work environments and collective efficacy were moderately, positively correlated. Nurse work environments and collective efficacy were associated with less missed care (χ 2 = 10.714, p = .0054). Fostering collective efficacy in the nurse work environment could reduce missed care and improve patient outcomes.

  7. Mutated genes as research tool

    International Nuclear Information System (INIS)

    1981-01-01

    Green plants are the ultimate source of all resources required for man's life, his food, his clothes, and almost all his energy requirements. Primitive prehistoric man could live from the abundance of nature surrounding him. Man today, dominating nature in terms of numbers and exploiting its limited resources, cannot exist without employing his intelligence to direct natural evolution. Plant sciences, therefore, are not a matter of curiosity but an essential requirement. From such considerations, the IAEA and FAO jointly organized a symposium to assess the value of mutation research for various kinds of plant science, which directly or indirectly might contribute to sustaining and improving crop production. The benefit through developing better cultivars that plant breeders can derive from using the additional genetic resources resulting from mutation induction has been assessed before at other FAO/IAEA meetings (Rome 1964, Pullman 1969, Ban 1974, Ibadan 1978) and is also monitored in the Mutation Breeding Newsletter, published by IAEA twice a year. Several hundred plant cultivars which carry economically important characters because their genes have been altered by ionizing radiation or other mutagens, are grown by farmers and horticulturists in many parts of the world. But the benefit derived from such mutant varieties is without any doubt surpassed by the contribution which mutation research has made towards the advancement of genetics. For this reason, a major part of the papers and discussions at the symposium dealt with the role induced-mutation research played in providing insight into gene action and gene interaction, the organization of genes in plant chromosomes in view of homology and homoeology, the evolutionary role of gene duplication and polyploidy, the relevance of gene blocks, the possibilities for chromosome engineering, the functioning of cytroplasmic inheritance and the genetic dynamics of populations. In discussing the evolutionary role of

  8. Missed breast carcinoma; why and how to avoid?

    International Nuclear Information System (INIS)

    Kamal, R.; Abdel Razek, N.M.; Hassan, M.A.; Shaalan, M.A.

    2007-01-01

    Despite the advances in mammography techniques, it still has a number of limitations. It is estimated that about 10 to 25% of lesions are overlooked in mammograms out of which about two thirds are detected retrospectively by radiologists and oncologists. Causes of missed breast cancer on mammography can be secondary to many factors including those related to the patient (whether inherent or acquired), the nature of the malignant mass itself, poor mammographic techniques, provider factors or interpretive skills of radiologists and oncologists (including perception and interpretation errors). Aim of Work: The aim of this study is to investigate the aforementioned factors hindering early breast cancer detection and in turn lowering mammographic sensitivity and to outline the major guidelines to overcome these factors aiming to an optimum mammographic examination and interpretation by radiologists and oncologists. Subject and Methods: We conducted this multicenter study over a two-year interval. We included 152 histo-pathological proven breast carcinomas that were initially missed on mammography. The cases were subjected to mammography, complementary US, MRI and digital mammography in some cases and all cases were histo-pathologically proven either by FNAB, CNB or open biopsy. Results: Revision of the pathological specimens of these 152 cases revealed 121 infiltrating ductal carcinomas, 2 lobular, 4 mucinous, 14 inflammatory carcinomas, 6 carcinomas in situ (3 of which were intracystic), 2 intraductal papillary carcinomas and 3 cases with Paget's disease of the nipple. In analyzing the causes responsible for misdiagnosis of these carcinomas we classified them into 4 causative factors; patient, tumor, technical or provider factors. Tumor factors were the most commonly encountered, accounting for 44. I %, while provider factors were the least commonly encountered in 14.5%. Carcino- mas were detected using several individual or combined complementary techniques. These

  9. Radiation-induced mutation at minisatellite loci

    International Nuclear Information System (INIS)

    Dubrova, Y.E.; Nesterov, V.N.; Krouchinsky, N.G.

    1997-01-01

    We are studying the radiation-induced increase of mutation rate in minisatellite loci in mice and humans. Minisatellite mutations were scored by multilocus DNA fingerprint analysis in the progeny of γ-irradiated and non-irradiated mice. The frequency of mutation in offspring of irradiated males was 1.7 higher that in the control group. Germline mutation at human minisatellite loci was studied among children born in heavily polluted areas of the Mogilev district of Belarus after the Chernobyl accident and in a control population. The frequency of mutation assayed both by DNA fingerprinting and by eight single locus probes was found to be two times higher in the exposed families than in the control group. Furthermore, mutation rate was correlated with the parental radiation dose for chronic exposure 137 Cs, consistent with radiation-induction of germline mutation. The potential use of minisatellites in monitoring germline mutation in humans will be discussed

  10. Recurrent LDL-receptor mutation causes familial ...

    African Journals Online (AJOL)

    1995-05-05

    May 5, 1995 ... 3. eaudet . New. Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in ... amplification refractory mutation system (ARMS)" and single- strand conformation .... Location. Afrikaner. Mixed race. ApaLl.

  11. Manual on mutation breeding. 2. ed.

    International Nuclear Information System (INIS)

    1977-01-01

    The manual is a compilation of work done on the use of induced mutations in plant breeding, and presents general methods and techniques in this field. The use of chemical mutagens and ionizing radiations (X-rays, gamma rays, α- and β-particles, protons, neutrons) are described as well as the effects of these mutagens. The different types of mutations achieved can be divided into genome mutations, chromosome mutations and extra nuclear mutations. Separate chapters deal with mutation techniques in breeding seed-propagated species and asexually propagated plants (examples of development of cultivars given). Plant characters which can be improved by mutation breeding include yield, ripening time, growth habit, disease resistance and tolerance to environmental factors (temperature, salinity etc.). The use of mutagens for some specific plant breeding problems is discussed and attention is also paid to somatic cell genetics in connection with induced mutations. The manual contains a comprehensive bibliography (60 p. references) and a subject index

  12. Measuring adequacy of prenatal care: does missing visit information matter?

    Science.gov (United States)

    Kurtzman, Jordan H; Wasserman, Erin B; Suter, Barbara J; Glantz, J Christopher; Dozier, Ann M

    2014-09-01

    Kotelchuck's Adequacy of Prenatal Care Utilization (APNCU) Index is frequently used to classify levels of prenatal care. In the Finger Lakes Region (FLR) of upstate New York, prenatal care visit information late in pregnancy is often not documented on the birth certificate. We studied the extent of this missing information and its impact on the validity of regional APNCU scores. We calculated the "weeks between" a mother's last prenatal care visit and her infant's date of birth. We adjusted the APNCU algorithm creating the Last Visit Adequacy of Prenatal Care (LV-APNC) Index using the last recorded prenatal care visit date as the end point of care and the expected number of visits at that time. We compared maternal characteristics by care level with each index, examining rates of reclassification and number of "weeks between" by birth hospital. Stuart-Maxwell, McNemar, chi-square, and t-tests were used to determine statistical significance. Based on 58,462 births, the mean "weeks between" was 2.8 weeks. Compared with their APNCU Index score, 42.4 percent of mothers were reclassified using the LV-APNC Index. Major movement occurred from Intermediate (APNCU) to Adequate or Adequate Plus (LV-APNC) leaving the Intermediate Care group a more at-risk group of mothers. Those with Adequate or Adequate Plus Care (LV-APNC) increased by 31.6 percent, surpassing the Healthy People 2020 objective. In the FLR, missing visit information at the end of pregnancy results in an underestimation of mothers' prenatal care. Future research is needed to determine the extent of this missing visit information on the national level. © 2014 Wiley Periodicals, Inc.

  13. The impact of missing sensor information on surgical workflow management.

    Science.gov (United States)

    Liebmann, Philipp; Meixensberger, Jürgen; Wiedemann, Peter; Neumuth, Thomas

    2013-09-01

    Sensor systems in the operating room may encounter intermittent data losses that reduce the performance of surgical workflow management systems (SWFMS). Sensor data loss could impact SWFMS-based decision support, device parameterization, and information presentation. The purpose of this study was to understand the robustness of surgical process models when sensor information is partially missing. SWFMS changes caused by wrong or no data from the sensor system which tracks the progress of a surgical intervention were tested. The individual surgical process models (iSPMs) from 100 different cataract procedures of 3 ophthalmologic surgeons were used to select a randomized subset and create a generalized surgical process model (gSPM). A disjoint subset was selected from the iSPMs and used to simulate the surgical process against the gSPM. The loss of sensor data was simulated by removing some information from one task in the iSPM. The effect of missing sensor data was measured using several metrics: (a) successful relocation of the path in the gSPM, (b) the number of steps to find the converging point, and (c) the perspective with the highest occurrence of unsuccessful path findings. A gSPM built using 30% of the iSPMs successfully found the correct path in 90% of the cases. The most critical sensor data were the information regarding the instrument used by the surgeon. We found that use of a gSPM to provide input data for a SWFMS is robust and can be accurate despite missing sensor data. A surgical workflow management system can provide the surgeon with workflow guidance in the OR for most cases. Sensor systems for surgical process tracking can be evaluated based on the stability and accuracy of functional and spatial operative results.

  14. Health insurance theory: the case of the missing welfare gain.

    Science.gov (United States)

    Nyman, John A

    2008-11-01

    An important source of value is missing from the conventional welfare analysis of moral hazard, namely, the effect of income transfers (from those who purchase insurance and remain healthy to those who become ill) on purchases of medical care. Income transfers are contained within the price reduction that is associated with standard health insurance. However, in contrast to the income effects contained within an exogenous price decrease, these income transfers act to shift out the demand for medical care. As a result, the consumer's willingness to pay for medical care increases and the resulting additional consumption is welfare increasing.

  15. Multiple sclerosis pathogenesis: missing pieces of an old puzzle.

    Science.gov (United States)

    Rahmanzadeh, Reza; Brück, Wolfgang; Minagar, Alireza; Sahraian, Mohammad Ali

    2018-06-08

    Traditionally, multiple sclerosis (MS) was considered to be a CD4 T cell-mediated CNS autoimmunity, compatible with experimental autoimmune encephalitis model, which can be characterized by focal lesions in the white matter. However, studies of recent decades revealed several missing pieces of MS puzzle and showed that MS pathogenesis is more complex than the traditional view and may include the following: a primary degenerative process (e.g. oligodendroglial pathology), generalized abnormality of normal-appearing brain tissue, pronounced gray matter pathology, involvement of innate immunity, and CD8 T cells and B cells. Here, we review these findings and discuss their implications in MS pathogenesis.

  16. FileMaker Pro 11 The Missing Manual

    CERN Document Server

    Prosser, Susan

    2010-01-01

    This hands-on, friendly guide shows you how to harness FileMaker's power to make your information work for you. With a few mouse clicks, the FileMaker Pro 11 database helps you create and print corporate reports, manage a mailing list, or run your entire business. FileMaker Pro 11: The Missing Manual helps you get started, build your database, and produce results, whether you're running a business, pursuing a hobby, or planning your retirement. It's a thorough, accessible guide for new, non-technical users, as well as those with more experience. Start up: Get your first database up and runnin

  17. Managing missing scores on the Roland Morris Disability Questionnaire

    DEFF Research Database (Denmark)

    Kent, Peter; Lauridsen, Henrik Hein

    2011-01-01

    Study Design: Analysis of Roland Morris Disability Questionnaire (RMDQ) and Oswestry Disability Index (Oswestry) responses.Objectives: To determine the prevalence of unanswered questions on the RMDQ23 (23-item RMDQ version) and Oswestry questionnaires. To determine if managing RMDQ23 missing data...... fully completed RMDQ23 and matching Oswestry questionnaire sets. Raw sum scores were calculated, and questions systematically dropped. At each stage, sum scores were converted to a score on a 0-100 scale and the error calculated. Wilcoxon Tests were used to compare the magnitude of the error scores...

  18. Missed cases of multiple forms of child abuse and neglect.

    Science.gov (United States)

    Koc, Feyza; Oral, Resmiye; Butteris, Regina

    2014-01-01

    Child abuse and neglect is a public health problem and usually associated with family dysfunction due to multiple psychosocial, individual, and environmental factors. The diagnosis of child abuse may be difficult and require a high index of suspicion on the part of the practitioners encountering the child and the family. System-related factors may also enable abuse or prevent the early recognition of abuse. Child abuse and neglect that goes undiagnosed may give rise to chronic abuse and increased morbidity-mortality. In this report, we present two siblings who missed early diagnosis and we emphasize the importance of systems issues to allow early recognition of child abuse and neglect.

  19. Flash CS5.5 The Missing Manual

    CERN Document Server

    Grover, Chris

    2011-01-01

    You can build everything from simple animations to full-fledged iOS and Android apps with Flash CS5.5, but learning this complex program can be difficult-unless you have this fully updated, bestselling guide. Learn how to create gorgeous Flash effects even if you have no programming experience. With Flash CS5.5: The Missing Manual, you'll move from the basics to power-user tools with ease. Learn animation basics. Discover how to turn simple ideas into stunning animations.Master Flash's tools. Learn the animation and effects tools with clear explanations and hands-on examples.Use 3D effects. R

  20. Adaptive mutation: has the unicorn landed?

    Science.gov (United States)

    Foster, P L

    1998-01-01

    Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution. PMID:9560365

  1. Adaptive mutation: has the unicorn landed?

    Science.gov (United States)

    Foster, P L

    1998-04-01

    Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution.

  2. Urinary Tract Effects of HPSE2 Mutations

    OpenAIRE

    Stuart, H; Roberts, N; Hilton, E; McKenzie, E; Daly, S; Hadfield, K; Rahal, J; Gardiner, N; Tanley, S; Lewis, M; Sites, E; Angle, B; Alves, C; Lourenço, T; Rodrigues, M

    2015-01-01

    Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurog...

  3. Haploid rice plants in mutation studies

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, S [Institute of Radiation Breeding, Ministry of Agriculture and Forestry, Ohmiya, Ibaraki-ken (Japan)

    1970-03-01

    Studies were made on chlorophyll-deficient sectors and diploid-like sectors in haploid rice plants exposed to chronic gamma irradiation, and on germinal mutations in diploid strains derived from the haploid plants. The induction and elimination of somatic mutations in haploid plants and the occurrence of drastic germinal mutations in diploid strains from haploid plants are discussed. (author)

  4. Studies of human mutation rates: Progress report

    International Nuclear Information System (INIS)

    Neel, J.V.

    1988-01-01

    Progress was recorded between January 1 and July 1, 1987 on a project entitled ''Studies of Human Mutation Rates''. Studies underway include methodology for studying mutation at the DNA level, algorithms for automated analyses of two-dimensional polyacrylamide DNA gels, theoretical and applied population genetics, and studies of mutation frequency in A-bomb survivors

  5. Mitochondrial mutations drive prostate cancer aggression

    DEFF Research Database (Denmark)

    Hopkins, Julia F.; Sabelnykova, Veronica Y.; Weischenfeldt, Joachim

    2017-01-01

    Nuclear mutations are well known to drive tumor incidence, aggression and response to therapy. By contrast, the frequency and roles of mutations in the maternally inherited mitochondrial genome are poorly understood. Here we sequence the mitochondrial genomes of 384 localized prostate cancer...... in prostate cancer, and suggest interplay between nuclear and mitochondrial mutational profiles in prostate cancer....

  6. A systematic review of missed opportunities for improving tuberculosis and HIV/AIDS control in Sub-saharan Africa: what is still missed by health experts?

    Science.gov (United States)

    Keugoung, Basile; Fouelifack, Florent Ymele; Fotsing, Richard; Macq, Jean; Meli, Jean; Criel, Bart

    2014-01-01

    In sub-Saharan Africa, HIV/AIDS and tuberculosis are major public health problems. In 2010, 64% of the 34 million of people infected with HIV were reported to be living in sub-Saharan Africa. Only 41% of eligible HIV-positive people had access to antiretroviral therapy (ART). Regarding tuberculosis, in 2010, the region had 12% of the world's population but reported 26% of the 8.8 million incident cases and 254000 tuberculosis-related deaths. This paper aims to review missed opportunities for improving HIV/AIDS and tuberculosis prevention and care. We conducted a systematic review in PubMed using the terms 'missed'(Title) AND 'opportunities'(Title). We included systematic review and original research articles done in sub-Saharan Africa on missed opportunities in HIV/AIDS and/or tuberculosis care. Missed opportunities for improving HIV/AIDS and/or tuberculosis care can be classified into five categories: i) patient and community; ii) health professional; iii) health facility; iv) local health system; and v) vertical programme (HIV/AIDS and/or tuberculosis control programmes). None of the reviewed studies identified any missed opportunities related to health system strengthening. Opportunities that are missed hamper tuberculosis and/or HIV/AIDS care in sub-Saharan Africa where health systems remain weak. What is still missing in the analysis of health experts is the acknowledgement that opportunities that are missed to strengthen health systems also undermine tuberculosis and HIV/AIDS prevention and care. Studying why these opportunities are missed will help to understand the rationales behind the missed opportunities, and customize adequate strategies to seize them and for effective diseases control.

  7. Patient understanding of oral contraceptive pill instructions related to missed pills: a systematic review.

    Science.gov (United States)

    Zapata, Lauren B; Steenland, Maria W; Brahmi, Dalia; Marchbanks, Polly A; Curtis, Kathryn M

    2013-05-01

    Instructions on what to do after pills are missed are critical to reducing unintended pregnancies resulting from patient non-adherence to oral contraceptive (OC) regimens. Missed pill instructions have previously been criticized for being too complex, lacking a definition of what is meant by "missed pills," and for being confusing to women who may not know the estrogen content of their formulation. To help inform the development of missed pill guidance to be included in the forthcoming US Selected Practice Recommendations, the objective of this systematic review was to evaluate the evidence on patient understanding of missed pill instructions. We searched the PubMed database for peer-reviewed articles that examined patient understanding of OC pill instructions that were published in any language from inception of the database through March 2012. We included studies that examined women's knowledge and understanding of missed pill instructions after exposure to some written material (e.g., patient package insert, brochure), as well as studies that compared different types of missed pill instructions on women's comprehension. We used standard abstract forms and grading systems to summarize and assess the quality of the evidence. From 1620 articles, nine studies met our inclusion criteria. Evidence from one randomized controlled trial (RCT) and two descriptive studies found that more women knew what to do after missing 1 pill than after missing 2 or 3 pills (Level I, good, to Level II-3, poor), and two descriptive studies found that more women knew what to do after missing 2 pills than after missing 3 pills (Level II-3, fair). Data from two descriptive studies documented the difficulty women have understanding missed pill instructions contained in patient package inserts (Level II-3, poor), and evidence from two RCTs found that providing written brochures with information on missed pill instructions in addition to contraceptive counseling significantly improved

  8. The effect of tertiary surveys on missed injuries in trauma: a systematic review

    Directory of Open Access Journals (Sweden)

    Keijzers Gerben B

    2012-11-01

    Full Text Available Abstract Background Trauma tertiary surveys (TTS are advocated to reduce the rate of missed injuries in hospitalized trauma patients. Moreover, the missed injury rate can be a quality indicator of trauma care performance. Current variation of the definition of missed injury restricts interpretation of the effect of the TTS and limits the use of missed injury for benchmarking. Only a few studies have specifically assessed the effect of the TTS on missed injury. We aimed to systematically appraise these studies using outcomes of two common definitions of missed injury rates and long-term health outcomes. Methods A systematic review was performed. An electronic search (without language or publication restrictions of the Cochrane Library, Medline and Ovid was used to identify studies assessing TTS with short-term measures of missed injuries and long-term health outcomes. ‘Missed injury’ was defined as either: Type I any injury missed at primary and secondary survey and detected by the TTS; or Type II any injury missed at primary and secondary survey and missed by the TTS, detected during hospital stay. Two authors independently selected studies. Risk of bias for observational studies was assessed using the Newcastle-Ottawa scale. Results Ten observational studies met our inclusion criteria. None was randomized and none reported long-term health outcomes. Their risk of bias varied considerably. Nine studies assessed Type I missed injury and found an overall rate of 4.3%. A single study reported Type II missed injury with a rate of 1.5%. Three studies reported outcome data on missed injuries for both control and intervention cohorts, with two reporting an increase in Type I missed injuries (3% vs. 7%, PP=0.01. Conclusions Overall Type I and Type II missed injury rates were 4.3% and 1.5%. Routine TTS performance increased Type I and reduced Type II missed injuries. However, evidence is sub-optimal: few observational studies, non-uniform outcome

  9. "Asia's missing women" as a problem in applied evolutionary psychology?

    Science.gov (United States)

    Brooks, Robert

    2012-12-20

    In many parts of Asia, the Middle East and North Africa, women and children are so undervalued, neglected, abused, and so often killed, that sex ratios are now strongly male biased. In recent decades, sex-biased abortion has exacerbated the problem. In this article I highlight several important insights from evolutionary biology into both the origin and the severe societal consequences of "Asia's missing women", paying particular attention to interactions between evolution, economics and culture. Son preferences and associated cultural practices like patrilineal inheritance, patrilocality and the Indian Hindu dowry system arise among the wealthy and powerful elites for reasons consistent with models of sex-biased parental investment. Those practices then spread via imitation as technology gets cheaper and economic development allows the middle class to grow rapidly. I will consider evidence from India, China and elsewhere that grossly male-biased sex ratios lead to increased crime, violence, local warfare, political instability, drug abuse, prostitution and trafficking of women. The problem of Asia's missing women presents a challenge for applied evolutionary psychology to help us understand and ameliorate sex ratio biases and their most severe consequences.

  10. Sensitivity analysis for missing data in regulatory submissions.

    Science.gov (United States)

    Permutt, Thomas

    2016-07-30

    The National Research Council Panel on Handling Missing Data in Clinical Trials recommended that sensitivity analyses have to be part of the primary reporting of findings from clinical trials. Their specific recommendations, however, seem not to have been taken up rapidly by sponsors of regulatory submissions. The NRC report's detailed suggestions are along rather different lines than what has been called sensitivity analysis in the regulatory setting up to now. Furthermore, the role of sensitivity analysis in regulatory decision-making, although discussed briefly in the NRC report, remains unclear. This paper will examine previous ideas of sensitivity analysis with a view to explaining how the NRC panel's recommendations are different and possibly better suited to coping with present problems of missing data in the regulatory setting. It will also discuss, in more detail than the NRC report, the relevance of sensitivity analysis to decision-making, both for applicants and for regulators. Published 2015. This article is a U.S. Government work and is in the public domain in the USA. Published 2015. This article is a U.S. Government work and is in the public domain in the USA.

  11. Identifying missing dictionary entries with frequency-conserving context models

    Science.gov (United States)

    Williams, Jake Ryland; Clark, Eric M.; Bagrow, James P.; Danforth, Christopher M.; Dodds, Peter Sheridan

    2015-10-01

    In an effort to better understand meaning from natural language texts, we explore methods aimed at organizing lexical objects into contexts. A number of these methods for organization fall into a family defined by word ordering. Unlike demographic or spatial partitions of data, these collocation models are of special importance for their universal applicability. While we are interested here in text and have framed our treatment appropriately, our work is potentially applicable to other areas of research (e.g., speech, genomics, and mobility patterns) where one has ordered categorical data (e.g., sounds, genes, and locations). Our approach focuses on the phrase (whether word or larger) as the primary meaning-bearing lexical unit and object of study. To do so, we employ our previously developed framework for generating word-conserving phrase-frequency data. Upon training our model with the Wiktionary, an extensive, online, collaborative, and open-source dictionary that contains over 100 000 phrasal definitions, we develop highly effective filters for the identification of meaningful, missing phrase entries. With our predictions we then engage the editorial community of the Wiktionary and propose short lists of potential missing entries for definition, developing a breakthrough, lexical extraction technique and expanding our knowledge of the defined English lexicon of phrases.

  12. Critical thinking, delegation, and missed care in nursing practice.

    Science.gov (United States)

    Bittner, Nancy Phoenix; Gravlin, Gayle

    2009-03-01

    The aim of this study was to understand how nurses use critical thinking to delegate nursing care. Nurses must synthesize large amounts of information and think through complex and often emergent clinical situations when making critical decisions about patient care, including delegation. A qualitative, descriptive study was used in this article. Before delegating, nurses reported considering patient condition, competency, experience, and workload of unlicensed assistive personnel (UAP). Nurses expected UAP to report significant findings and have higher level knowledge, including assessment and prioritizing skills. Successful delegation was dependent on the relationship between the RN and the UAP, communication, system support, and nursing leadership. Nurses reported frequent instances of missed or omitted routine care. Findings from this project provide insight into factors that influence delegation effectiveness. These can guide CNOs and frontline nurse leaders to focus on implementing strategies to mitigate the consequence of missed care. Ineffective delegation of basic nursing care can result in poor patient outcomes, potentially impacting quality measures, satisfaction, and reimbursement for the institution.

  13. The Missing Curriculum in Physics Problem-Solving Education

    Science.gov (United States)

    Williams, Mobolaji

    2018-05-01

    Physics is often seen as an excellent introduction to science because it allows students to learn not only the laws governing the world around them, but also, through the problems students solve, a way of thinking which is conducive to solving problems outside of physics and even outside of science. In this article, we contest this latter idea and argue that in physics classes, students do not learn widely applicable problem-solving skills because physics education almost exclusively requires students to solve well-defined problems rather than the less-defined problems which better model problem solving outside of a formal class. Using personal, constructed, and the historical accounts of Schrödinger's development of the wave equation and Feynman's development of path integrals, we argue that what is missing in problem-solving education is practice in identifying gaps in knowledge and in framing these knowledge gaps as questions of the kind answerable using techniques students have learned. We discuss why these elements are typically not taught as part of the problem-solving curriculum and end with suggestions on how to incorporate these missing elements into physics classes.

  14. A Dialectical Reading of Strindberg’s Miss Julie

    Directory of Open Access Journals (Sweden)

    Hossein Davari

    2017-11-01

    Full Text Available A dialectical reading of Miss Julie offers an explicit depiction of history’s change and progress; it shows how society changes by the growing needs of the subjects and how void relations are negated into new ones. In this play, the transition of feudalist and patriarchal relations have been depicted through a new type of woman who does not believe in the supremacy of her father and husband as owners of the family; the subjects’ desire to escape from restrictive relations, breaking the hierarchal relation, and the decline of nobility as well as loyalty. In Miss Julie, Strindberg shows that the subjects cannot be liberated under the class relation of the coming capitalist mode and profit-oriented relation of the subjects ends only in destruction. He represents the problem of women becoming worse under capitalism and the new bourgeois ideology of bourgeois feminism not only fails to liberate women but also provokes a battle of the sexes as well as chaos.

  15. Statistical inference for imperfect maintenance models with missing data

    International Nuclear Information System (INIS)

    Dijoux, Yann; Fouladirad, Mitra; Nguyen, Dinh Tuan

    2016-01-01

    The paper considers complex industrial systems with incomplete maintenance history. A corrective maintenance is performed after the occurrence of a failure and its efficiency is assumed to be imperfect. In maintenance analysis, the databases are not necessarily complete. Specifically, the observations are assumed to be window-censored. This situation arises relatively frequently after the purchase of a second-hand unit or in the absence of maintenance record during the burn-in phase. The joint assessment of the wear-out of the system and the maintenance efficiency is investigated under missing data. A review along with extensions of statistical inference procedures from an observation window are proposed in the case of perfect and minimal repair using the renewal and Poisson theories, respectively. Virtual age models are employed to model imperfect repair. In this framework, new estimation procedures are developed. In particular, maximum likelihood estimation methods are derived for the most classical virtual age models. The benefits of the new estimation procedures are highlighted by numerical simulations and an application to a real data set. - Highlights: • New estimation procedures for window-censored observations and imperfect repair. • Extensions of inference methods for perfect and minimal repair with missing data. • Overview of maximum likelihood method with complete and incomplete observations. • Benefits of the new procedures highlighted by simulation studies and real application.

  16. Establishing a threshold for the number of missing days using 7 d pedometer data.

    Science.gov (United States)

    Kang, Minsoo; Hart, Peter D; Kim, Youngdeok

    2012-11-01

    The purpose of this study was to examine the threshold of the number of missing days of recovery using the individual information (II)-centered approach. Data for this study came from 86 participants, aged from 17 to 79 years old, who had 7 consecutive days of complete pedometer (Yamax SW 200) wear. Missing datasets (1 d through 5 d missing) were created by a SAS random process 10,000 times each. All missing values were replaced using the II-centered approach. A 7 d average was calculated for each dataset, including the complete dataset. Repeated measure ANOVA was used to determine the differences between 1 d through 5 d missing datasets and the complete dataset. Mean absolute percentage error (MAPE) was also computed. Mean (SD) daily step count for the complete 7 d dataset was 7979 (3084). Mean (SD) values for the 1 d through 5 d missing datasets were 8072 (3218), 8066 (3109), 7968 (3273), 7741 (3050) and 8314 (3529), respectively (p > 0.05). The lower MAPEs were estimated for 1 d missing (5.2%, 95% confidence interval (CI) 4.4-6.0) and 2 d missing (8.4%, 95% CI 7.0-9.8), while all others were greater than 10%. The results of this study show that the 1 d through 5 d missing datasets, with replaced values, were not significantly different from the complete dataset. Based on the MAPE results, it is not recommended to replace more than two days of missing step counts.

  17. Radiation induced chlorophyll mutations in rice

    International Nuclear Information System (INIS)

    Bari, G.; Mustafa, G.; Soomro, A.M.; Baloch, A.W.

    1985-01-01

    Air dried grains of four local varieties of rice were treated with gamma-rays and fast neutrons for determining their mutagenic effectiveness through the occurence of chlorophyll mutations. Fast neutrons were more effective in inducing chlorophyll mutations and the rice variety Basmati 370 produced maximum number of mutations followed by varieties Sonahri Sugdasi, Jajai 77 and Sada Gulab. The highest frequency of chlorophyll mutations was that of albina types followed by striata types. The xantha, viridis and tigrina types of mutations were less frequent. (authors)

  18. Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

    LENUS (Irish Health Repository)

    Casey, Jillian

    2014-02-01

    We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative. Furthermore the siblings were tall and did not have the typical phenotype of nystagmus, photophobia, obesity or hearing loss and so the AS diagnosis was removed. We then sought to identify the causative gene in this family using whole exome sequencing. Unexpectedly, the exome analysis identified novel compound heterozygous ALMS1 mutations in exon 5 (c.777delT:p.D260fs*26) and exon 20 (c.12145_12146insC:p.S4049fs*36) that segregated with the phenotype. Although the siblings show some clinical overlap with AS, their phenotype is not classical. It is plausible that their atypical presentation may be due to the location of the ALMS1 mutations outside the usual mutational hotspots. Our findings show how atypical cases of AS may be missed under the current diagnostic guidelines and support consideration of complete ALMS1 sequencing in children with two or more features, even if all of the core clinical features of AS are not present.

  19. Mutation Clusters from Cancer Exome.

    Science.gov (United States)

    Kakushadze, Zura; Yu, Willie

    2017-08-15

    We apply our statistically deterministic machine learning/clustering algorithm *K-means (recently developed in https://ssrn.com/abstract=2908286) to 10,656 published exome samples for 32 cancer types. A majority of cancer types exhibit a mutation clustering structure. Our results are in-sample stable. They are also out-of-sample stable when applied to 1389 published genome samples across 14 cancer types. In contrast, we find in- and out-of-sample instabilities in cancer signatures extracted from exome samples via nonnegative matrix factorization (NMF), a computationally-costly and non-deterministic method. Extracting stable mutation structures from exome data could have important implications for speed and cost, which are critical for early-stage cancer diagnostics, such as novel blood-test methods currently in development.

  20. Gene mutations in hepatocellular adenomas

    DEFF Research Database (Denmark)

    Raft, Marie B; Jørgensen, Ernö N; Vainer, Ben

    2015-01-01

    is associated with bi-allelic mutations in the TCF1 gene and morphologically has marked steatosis. β-catenin activating HCA has increased activity of the Wnt/β-catenin pathway and is associated with possible malignant transformation. Inflammatory HCA is characterized by an oncogene-induced inflammation due...... to alterations in the Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway. In the diagnostic setting, sub classification of HCA is based primarily on immunohistochemical analyzes, and has had an increasing impact on choice of treatment and individual prognostic assessment....... This review offers an overview of the reported gene mutations associated with hepatocellular adenomas together with a discussion of the diagnostic and prognostic value....

  1. Results of Database Studies in Spine Surgery Can Be Influenced by Missing Data.

    Science.gov (United States)

    Basques, Bryce A; McLynn, Ryan P; Fice, Michael P; Samuel, Andre M; Lukasiewicz, Adam M; Bohl, Daniel D; Ahn, Junyoung; Singh, Kern; Grauer, Jonathan N

    2017-12-01

    National databases are increasingly being used for research in spine surgery; however, one limitation of such databases that has received sparse mention is the frequency of missing data. Studies using these databases often do not emphasize the percentage of missing data for each variable used and do not specify how patients with missing data are incorporated into analyses. This study uses the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) database to examine whether different treatments of missing data can influence the results of spine studies. (1) What is the frequency of missing data fields for demographics, medical comorbidities, preoperative laboratory values, operating room times, and length of stay recorded in ACS-NSQIP? (2) Using three common approaches to handling missing data, how frequently do those approaches agree in terms of finding particular variables to be associated with adverse events? (3) Do different approaches to handling missing data influence the outcomes and effect sizes of an analysis testing for an association with these variables with occurrence of adverse events? Patients who underwent spine surgery between 2005 and 2013 were identified from the ACS-NSQIP database. A total of 88,471 patients undergoing spine surgery were identified. The most common procedures were anterior cervical discectomy and fusion, lumbar decompression, and lumbar fusion. Demographics, comorbidities, and perioperative laboratory values were tabulated for each patient, and the percent of missing data was noted for each variable. These variables were tested for an association with "any adverse event" using three separate multivariate regressions that used the most common treatments for missing data. In the first regression, patients with any missing data were excluded. In the second regression, missing data were treated as a negative or "reference" value; for continuous variables, the mean of each variable's reference range

  2. Mutation breeding newsletter. No. 41

    International Nuclear Information System (INIS)

    1994-07-01

    This newsletter contains short descriptions of research methods for the use of radiation to induce mutations and facilitate plant breeding. This method is used to develop species of plants that can survive in harsh climates and thus provide a food supply for humans and animals. Some of the mutants discussed include a salt tolerant barley, a disease resistant shrub, a cold tolerant chickpea, a highly productive Canavalia virosa and productive tomato. Refs, figs and tabs

  3. The condensed mutation in sunflower

    International Nuclear Information System (INIS)

    Leclercq, P.

    1978-01-01

    Three inbred lines of sunflower were treated with gamma rays. In the progeny of one of these lines, the desired dwarf mutation appeared with a high frequency (23%). The dwarfing was accompanied by various undesirable characteristics (lateness, poor seed production, etc.), for which correction through genetic diversification and selection is in progress. The ratio capitulum diameter/stem height has increased from 1/8 up to 1/3 [fr

  4. The rate and potential relevance of new mutations in a colonizing plant lineage.

    Directory of Open Access Journals (Sweden)

    Moises Exposito-Alonso

    2018-02-01

    Full Text Available By following the evolution of populations that are initially genetically homogeneous, much can be learned about core biological principles. For example, it allows for detailed studies of the rate of emergence of de novo mutations and their change in frequency due to drift and selection. Unfortunately, in multicellular organisms with generation times of months or years, it is difficult to set up and carry out such experiments over many generations. An alternative is provided by "natural evolution experiments" that started from colonizations or invasions of new habitats by selfing lineages. With limited or missing gene flow from other lineages, new mutations and their effects can be easily detected. North America has been colonized in historic times by the plant Arabidopsis thaliana, and although multiple intercrossing lineages are found today, many of the individuals belong to a single lineage, HPG1. To determine in this lineage the rate of substitutions-the subset of mutations that survived natural selection and drift-, we have sequenced genomes from plants collected between 1863 and 2006. We identified 73 modern and 27 herbarium specimens that belonged to HPG1. Using the estimated substitution rate, we infer that the last common HPG1 ancestor lived in the early 17th century, when it was most likely introduced by chance from Europe. Mutations in coding regions are depleted in frequency compared to those in other portions of the genome, consistent with purifying selection. Nevertheless, a handful of mutations is found at high frequency in present-day populations. We link these to detectable phenotypic variance in traits of known ecological importance, life history and growth, which could reflect their adaptive value. Our work showcases how, by applying genomics methods to a combination of modern and historic samples from colonizing lineages, we can directly study new mutations and their potential evolutionary relevance.

  5. Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing

    International Nuclear Information System (INIS)

    Akeson, A.L.; Wiginton, D.A.; States, C.J.; Perme, C.M.; Dusing, M.R.; Hutton, J.J.

    1987-01-01

    Adenosine deaminase deficiency is one cause of the genetic disease severe combined immunodeficiency. To identify mutations responsible for ADA deficiency, the authors synthesized cDNAs to ADA mRNAs from two cell lines, GM2756 and GM2825A, derived from ADA-deficient immunodeficient patients. Sequence analysis of GM2756 cDNA clones revealed a different point mutation in each allele that causes amino acid changes of alanine to valine and arginine to histidine. One allele of GM2825A also has a point mutation that causes an alanine to valine substitution. The other allele of GM2825A was found to produce an mRNA in which exon 4 had been spliced out but had no other detrimental mutations. S1 nuclease mapping of GM2825A mRNA showed equal abundance of the full-length ADA mRNA and the ADA mRNA that was missing exon 4. Several of the ADA cDNA clones extended 5' of the major initiation start site, indicating multiple start sites for ADA transcription. The point mutations in GM2756 and GM2825A and the absence of exon 4 in GM2825A appear to be directly responsible for the ADA deficiency. Comparison of a number of normal and mutant ADA cDNA sequences showed a number of changes in the third base of codons. These change do not affect the amino acid sequence. Analyses of ADA cDNAs from different cell lines detected aberrant RNA species that either included intron 7 or excluded exon 7. Their presence is a result of aberrant splicing of pre-mRNAs and is not related to mutations that cause ADA deficiency

  6. EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation

    Science.gov (United States)

    2014-01-01

    Background Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function. Methods Individuals in three families living in Sweden, where some members had a known c.1072C > T mutation in the EDAR gene with an autosomal dominant inheritance (AD), were included in a clinical investigation on oral signs and symptoms and self-reported symptoms from other ectodermal structures (n = 37). Confirmation of the c.1072C > T mutation in the EDAR gene were performed by genomic sequencing. Orofacial function was evaluated with NOT-S. Results The mutation was identified in 17 of 37 family members. The mean number of missing teeth due to agenesis was 10.3 ± 4.1, (range 4–17) in the mutation group and 0.1 ± 0.3, (range 0–1) in the non-mutation group (p  T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences. They therefore have a need for special attention in dental care, both with reference to tooth agenesis and low salivary secretion with an increased risk for caries. Sweating problems were the most frequently reported symptom from other ectodermal structures. PMID:24884697

  7. Rare beneficial mutations can halt Muller's ratchet

    Science.gov (United States)

    Balick, Daniel; Goyal, Sidhartha; Jerison, Elizabeth; Neher, Richard; Shraiman, Boris; Desai, Michael

    2012-02-01

    In viral, bacterial, and other asexual populations, the vast majority of non-neutral mutations are deleterious. This motivates the application of models without beneficial mutations. Here we show that the presence of surprisingly few compensatory mutations halts fitness decay in these models. Production of deleterious mutations is balanced by purifying selection, stabilizing the fitness distribution. However, stochastic vanishing of fitness classes can lead to slow fitness decay (i.e. Muller's ratchet). For weakly deleterious mutations, production overwhelms purification, rapidly decreasing population fitness. We show that when beneficial mutations are introduced, a stable steady state emerges in the form of a dynamic mutation-selection balance. We argue this state is generic for all mutation rates and population sizes, and is reached as an end state as genomes become saturated by either beneficial or deleterious mutations. Assuming all mutations have the same magnitude selective effect, we calculate the fraction of beneficial mutations necessary to maintain the dynamic balance. This may explain the unexpected maintenance of asexual genomes, as in mitochondria, in the presence of selection. This will affect in the statistics of genetic diversity in these populations.

  8. Rare and unexpected beta thalassemic mutations in Qazvin ...

    African Journals Online (AJOL)

    About 13 beta-globin mutations encompass 70 - 90% of mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify and describe rare or unknown beta-globin mutations in Qazvin province. EDTAcontaining venous ...

  9. Rare and unexpected beta thalassemic mutations in Qazvin ...

    African Journals Online (AJOL)

    STORAGESEVER

    2010-01-04

    Jan 4, 2010 ... About 13 beta-globin mutations encompass 70 - 90% of mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify and describe rare or unknown beta-globin mutations in Qazvin province. EDTA-.

  10. Mutation breeding in vegetable crops

    International Nuclear Information System (INIS)

    Yamaguchi, Takashi

    1984-01-01

    Vegetables breed by seeds and vegetative organs. In main vegetables, the differentiation of clopping types, the adoption of monoculture and year-round production and shipment are carried out, adapting to various socio-economic and cultivation conditions. Protected agriculture has advanced mainly for fruit vegetables, and the seeds for sale have become almost hybrid varieties. Reflecting the situation like this, the demand for breeding is diversified and characteristic, and the case of applying mutation breeding seems to be many. The present status of the mutation breeding of vegetables is not yet well under way, but about 40 raised varieties have been published in the world. The characters introduced by induced mutation and irradiation were compact form, harvesting aptitude, the forms and properties of stems and leaves, anti-lodging property, the size, form and uniformity of fruits, male sterility and so on. The radiation sources used were mostly gamma ray or X-ray, but sometimes, combined irradiation was used. As the results obtained in Japan, burdocks as an example of gamma ray irradiation to seeds, tomatoes as an example of inducing the compound resistance against disease injury and lettuces as an example of internal beta irradiation are reported. (Kako, I.)

  11. Mutation Breeding for Crop Improvement

    International Nuclear Information System (INIS)

    Rajbir, S. Sangwan

    2017-01-01

    Chromosomes contain genes responsible of different traits of any organism. Induced mutation using chemical mutagens and radiation to modify molecular structure of plants played a major role in the development of high genetic variability and help develop new superior crop varieties. The Mutation Breeding is applicable to all plants and has generated lot of agronomically interesting mutants, both in vegetatively and seed propagated plants. The technique is easy but long and challenging to detect, isolate and characterize the mutant and gene. A specific dose of irradiation has to be used to obtain desired mutants. However, with modern molecular technique, the gene responsible for mutation can be identified. The CRISPR-Cas9 allows the removal of a specific gene which is responsible of unwanted trait and replacing it with a gene which induces a desired trait. There have been more than 2700 officially released mutant varieties from 170 different plant species in more than 60 countries throughout the world and A more participatory approach, involving all stakeholders in plant breeding, is needed to ensure that it is demand/farmers driven.

  12. Induced mutations in sesame breeding

    International Nuclear Information System (INIS)

    Ashri, A.

    2001-01-01

    The scope of induced mutations in sesame (Sesamum indicum L.) breeding is reviewed. So far in Egypt, India, Iraq, Rep. of Korea, and Sri Lanka, 14 officially released varieties have been developed through induced mutations: 12 directly and 2 through cross breeding (one using the 'dt45' induced mutant from Israel). For another variety released in China there are no details. The induced mutations approach was adopted primarily in order to obtain genetic variability that was not available in the germplasm collection. The mutagens commonly applied have been gamma rays, EMS and sodium azide. Sesame seeds can withstand high mutagen doses, and there are genotypic differences in sensitivity between varieties. The mutants induced in the above named countries and others include better yield, improved seed retention, determinate habit, modified plant architecture and size, more uniform and shorter maturation period, earliness, resistance to diseases, genic male sterility, seed coat color, higher oil content and modified fatty acids composition. Some of the induced mutants have already given rise to improved varieties, the breeding value of other mutants is now being assessed and still others can serve as useful markers in genetic studies and breeding programmes. (author)

  13. Germline APC mutations in hepatoblastoma.

    Science.gov (United States)

    Yang, Adeline; Sisson, Rebecca; Gupta, Anita; Tiao, Greg; Geller, James I

    2018-04-01

    Conflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB. An Institutional Review Board approved retrospective review of clinical data collected from patients with HB who received APC testing at our institution was conducted. All HB patients seen at Cincinnati Children's Hospital Medical Center were eligible for testing. Potential genotype/phenotype correlations were assessed. As of July 2015, 29 patients with HB had received constitutional APC testing. Four (14%) were found to have APC pathogenic truncations of the APC protein and in addition two (7%) had APC missense variants of unknown clinical significance. Two patients (7%) had family histories indicative of familial adenomatous polyposis (FAP). Response to chemotherapy tracked differently in APC pathogenic cases, with a slower imaging response despite an equivalent or slightly faster α-fetoprotein (AFP) response. The prevalence of pathogenic APC variants in apparently sporadic HB may be higher than previously detected. Differences in time to imaging response, despite similar AFP response, may impact surgical planning. All patients with HB warrant germline APC mutation testing for underlying FAP. © 2017 Wiley Periodicals, Inc.

  14. Mutation induction by ion beams in plants

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, Atsushi [Japan Atomic Energy Research Inst., Takasaki, Gunma (Japan). Takasaki Radiation Chemistry Research Establishment

    2001-03-01

    The effect of ion beams such as C, He, and Ne ions was investigated on the mutation induction in plants with the expectation that ion beams of high linear energy transfer (LET) can frequently produce large DNA alternation such as inversion, translocation and large deletion rather than point mutation. Mutation frequency was investigated using Arabidopsis visible phenotype loci and was 8 to 33 fold higher for 220 MeV carbon ions than for electrons. Mutation spectrum was investigated on the flower color of chrysanthemum cv to find that flower mutants induced by ion beams show complex and stripe types rather than single color. Polymerase chain reaction analysis was performed to investigate DNA alteration of mutations. In conclusion, the characteristics of ion beams for the mutation induction are 1) high frequency, 2) broad mutation spectrum, and 3) novel mutants. (S. Ohno)

  15. Mutation induction by ion beams in plants

    International Nuclear Information System (INIS)

    Tanaka, Atsushi

    2001-01-01

    The effect of ion beams such as C, He, and Ne ions was investigated on the mutation induction in plants with the expectation that ion beams of high linear energy transfer (LET) can frequently produce large DNA alternation such as inversion, translocation and large deletion rather than point mutation. Mutation frequency was investigated using Arabidopsis visible phenotype loci and was 8 to 33 fold higher for 220 MeV carbon ions than for electrons. Mutation spectrum was investigated on the flower color of chrysanthemum cv to find that flower mutants induced by ion beams show complex and stripe types rather than single color. Polymerase chain reaction analysis was performed to investigate DNA alteration of mutations. In conclusion, the characteristics of ion beams for the mutation induction are 1) high frequency, 2) broad mutation spectrum, and 3) novel mutants. (S. Ohno)

  16. Oncogene mutational profile in nasopharyngeal carcinoma

    Directory of Open Access Journals (Sweden)

    Zhang ZC

    2014-03-01

    Full Text Available Zi-Chen Zhang,1,* Sha Fu,1,* Fang Wang,1 Hai-Yun Wang,1 Yi-Xin Zeng,2 Jian-Yong Shao11Department of Molecular Diagnostics, 2Department of Experimental Research, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center of Cancer Medicine, Guangzhou, People's Republic of China *These authors contributed equally to this work Abstract: Nasopharyngeal carcinoma (NPC is a common tumor in Southern China, but the oncogene mutational status of NPC patients has not been clarified. Using time-of-flight mass spectrometry, 238 mutation hotspots in 19 oncogenes were examined in 123 NPC patients. The relationships between mutational status and clinical data were assessed with a χ2 or Fisher's exact test. Survival analysis was performed using the Kaplan–Meier method with the log-rank test. In 123 patients, 21 (17.1% NPC tumors were positive for mutations in eight oncogenes: six patients had PIK3CA mutations (4.9%, five NRAS mutations (4.1%, four KIT mutations (3.3%, two PDGFRA mutations (1.6%, two ABL mutations (1.6%, and one with simultaneous mutations in HRAS, EGFR, and BRAF (1%. Patients with mutations were more likely to relapse or develop metastasis than those with wild-type alleles (P=0.019. No differences or correlations were found in other clinical characteristics or in patient survival. No mutations were detected in oncogenes AKT1, AKT2, CDK, ERBB2, FGFR1, FGFR3, FLT3, JAK2, KRAS, MET, and RET. These results demonstrate an association between NPC and mutations in NRAS, KIT, PIK3CA, PDGFRA, and ABL, which are associated with patient relapse and metastasis. Keywords: NPC, oncogene, mutation

  17. Lessons Learned from Missing Flooding Barriers Operating Experience

    International Nuclear Information System (INIS)

    Simic, Z.; Veira, M. P.

    2016-01-01

    Flooding hazard is highly significant for nuclear power plant safety because of its potential for common cause impact on safety related systems, and because operating experience reviews regularly identify flooding as a cause of concern. Source of the flooding could be external (location) or internal (plant design). The amount of flooding water could vary but even small amount might suffice to affect redundant trains of safety related systems for power supply and cooling. The protection from the flooding is related to the design-basis flood level (DBFL) and it consists of three elements: structural, organizational and accessibility. Determination of the DBFL is critical, as Fukushima Daiichi accident terribly proved. However, as the topic of flooding is very broad, the scope of this paper is focused only on the issues related to the missing flood barriers. Structural measures are physically preventing flooding water to reach or damage safety related system, and they could be permanent or temporary. For temporary measures it is important to have necessary material, equipment and organizational capacity for the timely implementation. Maintenance is important for permanent protection and periodical review is important for assuring readiness and feasibility of temporary flooding protection. Final flooding protection element is assured accessibility to safety related systems during the flooding. Appropriate flooding protection is based on the right implementation of design requirements, proper maintenance and periodic reviews. Operating experience is constantly proving how numerous water sources and systems interactions make flooding protection challenging. This paper is presenting recent related operating experience feedback involving equipment, procedures and analysis. Most frequent deficiencies are: inadequate, degraded or missing seals that would allow floodwaters into safety related spaces. Procedures are inadequate typically because they underestimate necessary

  18. Tensor Completion for Estimating Missing Values in Visual Data

    KAUST Repository

    Liu, Ji

    2012-01-25

    In this paper, we propose an algorithm to estimate missing values in tensors of visual data. The values can be missing due to problems in the acquisition process or because the user manually identified unwanted outliers. Our algorithm works even with a small amount of samples and it can propagate structure to fill larger missing regions. Our methodology is built on recent studies about matrix completion using the matrix trace norm. The contribution of our paper is to extend the matrix case to the tensor case by proposing the first definition of the trace norm for tensors and then by building a working algorithm. First, we propose a definition for the tensor trace norm that generalizes the established definition of the matrix trace norm. Second, similarly to matrix completion, the tensor completion is formulated as a convex optimization problem. Unfortunately, the straightforward problem extension is significantly harder to solve than the matrix case because of the dependency among multiple constraints. To tackle this problem, we developed three algorithms: simple low rank tensor completion (SiLRTC), fast low rank tensor completion (FaLRTC), and high accuracy low rank tensor completion (HaLRTC). The SiLRTC algorithm is simple to implement and employs a relaxation technique to separate the dependant relationships and uses the block coordinate descent (BCD) method to achieve a globally optimal solution; the FaLRTC algorithm utilizes a smoothing scheme to transform the original nonsmooth problem into a smooth one and can be used to solve a general tensor trace norm minimization problem; the HaLRTC algorithm applies the alternating direction method of multipliers (ADMMs) to our problem. Our experiments show potential applications of our algorithms and the quantitative evaluation indicates that our methods are more accurate and robust than heuristic approaches. The efficiency comparison indicates that FaLTRC and HaLRTC are more efficient than SiLRTC and between Fa

  19. Tensor Completion for Estimating Missing Values in Visual Data

    KAUST Repository

    Liu, Ji; Musialski, Przemyslaw; Wonka, Peter; Ye, Jieping

    2012-01-01

    In this paper, we propose an algorithm to estimate missing values in tensors of visual data. The values can be missing due to problems in the acquisition process or because the user manually identified unwanted outliers. Our algorithm works even with a small amount of samples and it can propagate structure to fill larger missing regions. Our methodology is built on recent studies about matrix completion using the matrix trace norm. The contribution of our paper is to extend the matrix case to the tensor case by proposing the first definition of the trace norm for tensors and then by building a working algorithm. First, we propose a definition for the tensor trace norm that generalizes the established definition of the matrix trace norm. Second, similarly to matrix completion, the tensor completion is formulated as a convex optimization problem. Unfortunately, the straightforward problem extension is significantly harder to solve than the matrix case because of the dependency among multiple constraints. To tackle this problem, we developed three algorithms: simple low rank tensor completion (SiLRTC), fast low rank tensor completion (FaLRTC), and high accuracy low rank tensor completion (HaLRTC). The SiLRTC algorithm is simple to implement and employs a relaxation technique to separate the dependant relationships and uses the block coordinate descent (BCD) method to achieve a globally optimal solution; the FaLRTC algorithm utilizes a smoothing scheme to transform the original nonsmooth problem into a smooth one and can be used to solve a general tensor trace norm minimization problem; the HaLRTC algorithm applies the alternating direction method of multipliers (ADMMs) to our problem. Our experiments show potential applications of our algorithms and the quantitative evaluation indicates that our methods are more accurate and robust than heuristic approaches. The efficiency comparison indicates that FaLTRC and HaLRTC are more efficient than SiLRTC and between Fa

  20. Comparison of Three Prehospital Cervical Spine Protocols for Missed Injuries

    Directory of Open Access Journals (Sweden)

    Rick Hong

    2014-07-01

    Full Text Available Introduction: We wanted to compare 3 existing emergency medical services (EMS immobilization protocols: the Prehospital Trauma Life Support (PHTLS, mechanism-based; the Domeier protocol (parallels the National Emergency X-Radiography Utilization Study [NEXUS] criteria; and the Hankins’ criteria (immobilization for patients 65 years, those with altered consciousness, focal neurologic deficit, distracting injury, or midline or paraspinal tenderness.To determine the proportion of patients who would require cervical immobilization per protocol and the number of missed cervical spine injuries, had each protocol been followed with 100% compliance. Methods: This was a cross-sectional study of patients ≥18 years transported by EMS post-traumatic mechanism to an inner city emergency department. Demographic and clinical/historical data obtained by physicians were recorded prior to radiologic imaging. Medical record review ascertained cervical spine injuries. Both physicians and EMS were blinded to the objective of the study. Results: Of 498 participants, 58% were male and mean age was 48 years. The following participants would have required cervical spine immobilization based on the respective protocol: PHTLS, 95.4% (95% CI: 93.1-96.9%; Domeier, 68.7% (95% CI: 64.5-72.6%; Hankins, 81.5% (95% CI: 77.9-84.7%. There were 18 cervical spine injuries: 12 vertebral fractures, 2 subluxations/dislocations and 4 spinal cord injuries. Compliance with each of the 3 protocols would have led to appropriate cervical spine immobilization of all injured patients. In practice, 2 injuries were missed when the PHTLS criteria were mis-applied. Conclusion: Although physician-determined presence of cervical spine immobilization criteria cannot be generalized to the findings obtained by EMS personnel, our findings suggest that the mechanism-based PHTLS criteria may result in unnecessary cervical spine immobilization without apparent benefit to injured patients. PHTLS