Genomics of Systemic Lupus Erythematosus: Insights Gained by Studying Monogenic Young-Onset Systemic Lupus Erythematosus.

Science.gov (United States)

Hiraki, Linda T; Silverman, Earl D

2017-08-01

Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease with a heterogeneous clinical phenotype. Genome-wide association studies have identified multiple susceptibility loci, but these explain a fraction of the estimated heritability. This is partly because within the broad spectrum of SLE are monogenic diseases that tend to cluster in patients with young age of onset, and in families. This article highlights insights into the pathogenesis of SLE provided by these monogenic diseases. It examines genetic causes of complement deficiency, abnormal interferon production, and abnormalities of tolerance, resulting in monogenic SLE with overlapping clinical features, autoantibodies, and shared inflammatory pathways. Copyright © 2017 Elsevier Inc. All rights reserved.

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

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Bersano, Anna; Markus, Hugh Stephen; Quaglini, Silvana; Arbustini, Eloisa; Lanfranconi, Silvia; Micieli, Giuseppe; Boncoraglio, Giorgio B; Taroni, Franco; Gellera, Cinzia; Baratta, Silvia; Penco, Silvana; Mosca, Lorena; Grasso, Maurizia; Carrera, Paola; Ferrari, Maurizio; Cereda, Cristina; Grieco, Gaetano; Corti, Stefania; Ronchi, Dario; Bassi, Maria Teresa; Obici, Laura; Parati, Eugenio A; Pezzini, Alessando; De Lodovici, Maria Luisa; Verrengia, Elena P; Bono, Giorgio; Mazucchelli, Francesca; Zarcone, Davide; Calloni, Maria Vittoria; Perrone, Patrizia; Bordo, Bianca Maria; Colombo, Antonio; Padovani, Alessandro; Cavallini, Anna; Beretta, Simone; Ferrarese, Carlo; Motto, Cristina; Agostoni, Elio; Molini, Graziella; Sasanelli, Francesco; Corato, Manuel; Marcheselli, Simona; Sessa, Maria; Comi, Giancarlo; Checcarelli, Nicoletta; Guidotti, Mario; Uccellini, Davide; Capitani, Erminio; Tancredi, Lucia; Arnaboldi, Marco; Incorvaia, Barbara; Tadeo, Carlo Sebastiano; Fusi, Laura; Grampa, Giampiero; Merlini, Giampaolo; Trobia, Nadia; Comi, Giacomo Pietro; Braga, Massimiliano; Vitali, Paolo; Baron, Pierluigi; Grond-Ginsbach, Caspar; Candelise, Livia

2016-07-01

Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series. © 2016 American Heart Association, Inc.

Targeted next-generation sequencing in monogenic dyslipidemias.

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Hegele, Robert A; Ban, Matthew R; Cao, Henian; McIntyre, Adam D; Robinson, John F; Wang, Jian

2015-04-01

To evaluate the potential clinical translation of high-throughput next-generation sequencing (NGS) methods in diagnosis and management of dyslipidemia. Recent NGS experiments indicate that most causative genes for monogenic dyslipidemias are already known. Thus, monogenic dyslipidemias can now be diagnosed using targeted NGS. Targeting of dyslipidemia genes can be achieved by either: designing custom reagents for a dyslipidemia-specific NGS panel; or performing genome-wide NGS and focusing on genes of interest. Advantages of the former approach are lower cost and limited potential to detect incidental pathogenic variants unrelated to dyslipidemia. However, the latter approach is more flexible because masking criteria can be altered as knowledge advances, with no need for re-design of reagents or follow-up sequencing runs. Also, the cost of genome-wide analysis is decreasing and ethical concerns can likely be mitigated. DNA-based diagnosis is already part of the clinical diagnostic algorithms for familial hypercholesterolemia. Furthermore, DNA-based diagnosis is supplanting traditional biochemical methods to diagnose chylomicronemia caused by deficiency of lipoprotein lipase or its co-factors. The increasing availability and decreasing cost of clinical NGS for dyslipidemia means that its potential benefits can now be evaluated on a larger scale.

A Boundary Value Problem for Hermitian Monogenic Functions

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Ricardo Abreu Blaya

2008-02-01

Full Text Available We study the problem of finding a Hermitian monogenic function with a given jump on a given hypersurface in ℝm, m=2n. Necessary and sufficient conditions for the solvability of this problem are obtained.

Biological Treatments: New Weapons in the Management of Monogenic Autoinflammatory Disorders

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Antonio Vitale

2013-01-01

Full Text Available Treatment of monogenic autoinflammatory disorders, an expanding group of hereditary diseases characterized by apparently unprovoked recurrent episodes of inflammation, without high-titre autoantibodies or antigen-specific T cells, has been revolutionized by the discovery that several of these conditions are caused by mutations in proteins involved in the mechanisms of innate immune response, including components of the inflammasome, cytokine receptors, receptor antagonists, and oversecretion of a network of proinflammatory molecules. Aim of this review is to synthesize the current experience and the most recent evidences about the therapeutic approach with biologic drugs in pediatric and adult patients with monogenic autoinflammatory disorders.

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias[S

Science.gov (United States)

Johansen, Christopher T.; Dubé, Joseph B.; Loyzer, Melissa N.; MacDonald, Austin; Carter, David E.; McIntyre, Adam D.; Cao, Henian; Wang, Jian; Robinson, John F.; Hegele, Robert A.

2014-01-01

We report the design of a targeted resequencing panel for monogenic dyslipidemias, LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq approach versus Sanger sequencing in 84 patients with a range of phenotypes including extreme blood lipid concentrations as well as additional dyslipidemias and related metabolic disorders. The panel performs well, with high concordance (95.2%) in samples with known mutations based on Sanger sequencing and a high detection rate (57.9%) of mutations likely to be causative for disease in samples not previously sequenced. Clinical implementation of LipidSeq has the potential to aid in the molecular diagnosis of patients with monogenic dyslipidemias with a high degree of speed and accuracy and at lower cost than either Sanger sequencing or whole exome sequencing. Furthermore, LipidSeq will help to provide a more focused picture of monogenic and polygenic contributors that underlie dyslipidemia while excluding the discovery of incidental pathogenic clinically actionable variants in nonmetabolism-related genes, such as oncogenes, that would otherwise be identified by a whole exome approach, thus minimizing potential ethical issues. PMID:24503134

Molekylaer patogenese ved monogen og polygen fedme

DEFF Research Database (Denmark)

Larsen, Philip J; Echwald, Søren Morgenthaler; Sørensen, Thorkild I A

2006-01-01

During the last few years, studies of the molecular pathogenesis of obesity both in mouse models and in the rare cases of monogenic obesity in humans have added significantly to our understanding of the key role of the hypothalamus in mediating hunger and satiety. These insights have brought us c...... closer to the development of rational therapies of obesity, the epidemic of which is continuing in the post-industrial society, which is characterised by sedentary behaviour patterns....

Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases.

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Xiaokun Hu

Full Text Available The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.During a 3-year period (January 2009 to December 2012, 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated.ICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206 and 96.2% (1770/1840, respectively. In the present study, 60.5% (181/299 of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184 and 28.5% implantation rate (111/389 were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317-0.463, P = 0.000 and basal FSH level (coefficient: 0.198, 95%CI 0.031-0.365, P = 0.021. In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148-1.575, P = 0.000 and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877-0.994, P = 0.031.There should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4 of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome.

Pathogenesis of the Metabolic Syndrome: Insights from Monogenic Disorders

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Rinki Murphy

2013-01-01

Full Text Available Identifying rare human metabolic disorders that result from a single-gene defect has not only enabled improved diagnostic and clinical management of such patients, but also has resulted in key biological insights into the pathophysiology of the increasingly prevalent metabolic syndrome. Insulin resistance and type 2 diabetes are linked to obesity and driven by excess caloric intake and reduced physical activity. However, key events in the causation of the metabolic syndrome are difficult to disentangle from compensatory effects and epiphenomena. This review provides an overview of three types of human monogenic disorders that result in (1 severe, non-syndromic obesity, (2 pancreatic beta cell forms of early-onset diabetes, and (3 severe insulin resistance. In these patients with single-gene defects causing their exaggerated metabolic disorder, the primary defect is known. The lessons they provide for current understanding of the molecular pathogenesis of the common metabolic syndrome are highlighted.

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

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van der Ven, Amelie T; Vivante, Asaf; Hildebrandt, Friedhelm

2018-01-01

Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans. Copyright © 2018 by the American Society of Nephrology.

Intrusion detection on oil pipeline right of way using monogenic signal representation

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Nair, Binu M.; Santhaseelan, Varun; Cui, Chen; Asari, Vijayan K.

2013-05-01

We present an object detection algorithm to automatically detect and identify possible intrusions such as construction vehicles and equipment on the regions designated as the pipeline right-of-way (ROW) from high resolution aerial imagery. The pipeline industry has buried millions of miles of oil pipelines throughout the country and these regions are under constant threat of unauthorized construction activities. We propose a multi-stage framework which uses a pyramidal template matching scheme in the local phase domain by taking a single high resolution training image to classify a construction vehicle. The proposed detection algorithm makes use of the monogenic signal representation to extract the local phase information. Computing the monogenic signal from a two dimensional object region enables us to separate out the local phase information (structural details) from the local energy (contrast) thereby achieving illumination invariance. The first stage involves the local phase based template matching using only a single high resolution training image in a local region at multiple scales. Then, using the local phase histogram matching, the orientation of the detected region is determined and a voting scheme gives a certain weightage to the resulting clusters. The final stage involves the selection of clusters based on the number of votes attained and using the histogram of oriented phase feature descriptor, the object is located at the correct orientation and scale. The algorithm is successfully tested on four different datasets containing imagery with varying image resolution and object orientation.

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

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Julien Philippe

Full Text Available Molecular diagnosis of monogenic diabetes and obesity is of paramount importance for both the patient and society, as it can result in personalized medicine associated with a better life and it eventually saves health care spending. Genetic clinical laboratories are currently switching from Sanger sequencing to next-generation sequencing (NGS approaches but choosing the optimal protocols is not easy. Here, we compared the sequencing coverage of 43 genes involved in monogenic forms of diabetes and obesity, and variant detection rates, resulting from four enrichment methods based on the sonication of DNA (Agilent SureSelect, RainDance technologies, or using enzymes for DNA fragmentation (Illumina Nextera, Agilent HaloPlex. We analyzed coding exons and untranslated regions of the 43 genes involved in monogenic diabetes and obesity. We found that none of the methods achieves yet full sequencing of the gene targets. Nonetheless, the RainDance, SureSelect and HaloPlex enrichment methods led to the best sequencing coverage of the targets; while the Nextera method resulted in the poorest sequencing coverage. Although the sequencing coverage was high, we unexpectedly found that the HaloPlex method missed 20% of variants detected by the three other methods and Nextera missed 10%. The question of which NGS technique for genetic diagnosis yields the highest diagnosis rate is frequently discussed in the literature and the response is still unclear. Here, we showed that the RainDance enrichment method as well as SureSelect, which are both based on the sonication of DNA, resulted in a good sequencing quality and variant detection, while the use of enzymes to fragment DNA (HaloPlex or Nextera might not be the best strategy to get an accurate sequencing.

Roles of HNF1α and HNF4α in pancreatic β-cells: lessons from a monogenic form of diabetes (MODY).

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Yamagata, Kazuya

2014-01-01

Mutations in the genes encoding hepatocyte nuclear factor (HNF)1α and HNF4α cause a monogenic form of diabetes mellitus known as maturity-onset diabetes of the young (MODY). The primary cause of MODY is an impairment of glucose-stimulated insulin secretion by pancreatic β-cells, indicating the important roles of HNF1α and HNF4α in β-cells. Large-scale genetic studies have clarified that the common variants of HNF1α and HNF4α genes are also associated with type 2 diabetes, suggesting that they are involved in the pathogenesis of both diseases. Recent experimental studies revealed that HNF1α controls both β-cell function and growth by regulating target genes such as glucose transporter 2, pyruvate kinase, collectrin, hepatocyte growth factor activator, and HNF4α. In contrast, HNF4α mainly regulates the function of β-cells. Although direct target genes of HNF4α in β-cells are largely unknown, we recently identified Anks4b as a novel target of HNF4α that regulates β-cell susceptibility to endoplasmic reticulum stress. Studies of MODY have led to a better understanding of the molecular mechanism of glucose-stimulated insulin secretion by pancreatic β-cells. © 2014 Elsevier Inc. All rights reserved.

Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model

DEFF Research Database (Denmark)

Gao, Rui; Liu, Yanxia; Gjesing, Anette Marianne Prior

2014-01-01

Monogenic diabetes is a genetic disease often caused by mutations in genes involved in beta-cell function. Correct sub-categorization of the disease is a prerequisite for appropriate treatment and genetic counseling. Target-region capture sequencing is a combination of genomic region enrichment...... and next generation sequencing which might be used as an efficient way to diagnose various genetic disorders. We aimed to develop a target-region capture sequencing platform to screen 117 selected candidate genes involved in metabolism for mutations and to evaluate its performance using monogenic diabetes...

Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.

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Steinlechner, Susanne; Hagenah, Johann; Rumpf, Hans-Jürgen; Meyer, Christian; John, Ulrich; Bäumer, Tobias; Brüggemann, Norbert; Kasten, Meike; Münchau, Alexander; Klein, Christine; Lencer, Rebekka

2017-06-01

Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075). Our results indicate an odds ratio (OR) of 2.6 [confidence interval (CI) 1.7-4.0] for general axis I disorders in IFD, an OR of 2.5 (CI 1.4-4.7) in monogenic PD, and an OR of 1.4 (CI 0.8-2.6) in idiopathic PD. More specifically, the monogenic PD group showed the highest ORs for affective disorders including depression (OR = 4.9), bipolar disorder (OR = 17.4), and hypomanic episodes (OR = 17.0), whereas IFD expressed the highest rates of anxiety disorders (OR = 3.3). Psychotic symptoms were only observed in the PD groups but not in IFD. Our findings underline the notion that psychiatric disorders are part of the phenotypic spectrum of movement disorders. Moreover, they suggest that IFD, monogenic PD, and idiopathic PD are associated with specific psychiatric disorders indicating disturbances in a different neural circuitry for sensorimotor control.

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

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Rae, William; Ward, Daniel; Mattocks, Christopher J; Gao, Yifang; Pengelly, Reuben J; Patel, Sanjay V; Ennis, Sarah; Faust, Saul N; Williams, Anthony P

2017-09-01

Primary immunodeficiencies (PIDs) are rare inborn errors of immunity that have a heterogeneous phenotype that can include severe susceptibility to life-threatening infections from multiple pathogens, unique sensitivity to a single pathogen, autoimmune/inflammatory (AI/I) disease, allergies and/or malignancy. We present a diverse cohort of monogenic PID patients with and without AI/I diseases who underwent clinical, genetic and immunological phenotyping. Novel pathogenic variants were identified in IKBKG , CTLA4 , NFKB1 , GATA2 , CD40LG and TAZ as well as previously reported pathogenic variants in STAT3 , PIK3CD , STAT1 , NFKB2 and STXBP2 . AI/I manifestations were frequently encountered in PIDs, including at presentation. Autoimmunity/inflammation was multisystem in those effected, and regulatory T cell (Treg) percentages were significantly decreased compared with those without AI/I manifestations. Prednisolone was used as the first-line immunosuppressive agent in all cases, however steroid monotherapy failed long-term control of autoimmunity/inflammation in the majority of cases and additional immunosuppression was required. Patients with multisystem autoimmunity/inflammation should be investigated for an underlying PID, and in those with PID early assessment of Tregs may help to assess the risk of autoimmunity/inflammation.

Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient

Science.gov (United States)

2006-01-01

Monogenic diabetes results from one or more mutations in a single gene which might hence be rare but has great impact leading to diabetes at a very young age. It has resulted in great challenges for researchers elucidating the aetiology of diabetes and related features in other organ systems, for clinicians specifying a diagnosis that leads to improved genetic counselling, predicting of clinical course and changes in treatment, and for patients to altered treatment that has lead to coming off insulin and injections with no alternative (Glucokinase mutations), insulin injections being replaced by tablets (e.g. low dose in HNFα or high dose in potassium channel defects -Kir6.2 and SUR1) or with tablets in addition to insulin (e.g. metformin in insulin resistant syndromes). Genetic testing requires guidance to test for what gene especially given limited resources. Monogenic diabetes should be considered in any diabetic patient who has features inconsistent with their current diagnosis (unspecified neonatal diabetes, type 1 or type 2 diabetes) and clinical features of a specific subtype of monogenic diabetes (neonatal diabetes, familial diabetes, mild hyperglycaemia, syndromes). Guidance is given by clinical and physiological features in patient and family and the likelihood of the proposed mutation altering clinical care. In this article, I aimed to provide insight in the genes and mutations involved in insulin synthesis, secretion, and resistance, and to provide guidance for genetic testing by showing the clinical and physiological features and tests for each specified diagnosis as well as the opportunities for treatment. PMID:17186387

Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses.

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Yan, Liying; Huang, Lei; Xu, Liya; Huang, Jin; Ma, Fei; Zhu, Xiaohui; Tang, Yaqiong; Liu, Mingshan; Lian, Ying; Liu, Ping; Li, Rong; Lu, Sijia; Tang, Fuchou; Qiao, Jie; Xie, X Sunney

2015-12-29

In vitro fertilization (IVF), preimplantation genetic diagnosis (PGD), and preimplantation genetic screening (PGS) help patients to select embryos free of monogenic diseases and aneuploidy (chromosome abnormality). Next-generation sequencing (NGS) methods, while experiencing a rapid cost reduction, have improved the precision of PGD/PGS. However, the precision of PGD has been limited by the false-positive and false-negative single-nucleotide variations (SNVs), which are not acceptable in IVF and can be circumvented by linkage analyses, such as short tandem repeats or karyomapping. It is noteworthy that existing methods of detecting SNV/copy number variation (CNV) and linkage analysis often require separate procedures for the same embryo. Here we report an NGS-based PGD/PGS procedure that can simultaneously detect a single-gene disorder and aneuploidy and is capable of linkage analysis in a cost-effective way. This method, called "mutated allele revealed by sequencing with aneuploidy and linkage analyses" (MARSALA), involves multiple annealing and looping-based amplification cycles (MALBAC) for single-cell whole-genome amplification. Aneuploidy is determined by CNVs, whereas SNVs associated with the monogenic diseases are detected by PCR amplification of the MALBAC product. The false-positive and -negative SNVs are avoided by an NGS-based linkage analysis. Two healthy babies, free of the monogenic diseases of their parents, were born after such embryo selection. The monogenic diseases originated from a single base mutation on the autosome and the X-chromosome of the disease-carrying father and mother, respectively.

Genetic counseling in monogenic diabetes GCK MODY.

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Skała-Zamorowska, Eliza; Deja, Grażyna; Borowiec, Maciej; Fendler, Wojciech; Małachowska, Beata; Kamińska, Halla; Młynarski, Wojciech; Jarosz-Chobot, Przemysława

2016-01-01

Genetic testing in families with monogenic GCK MODY has predictive, diagnostic, and preventive utility. Predictive tests relate to people who have no features of the disorder themselves at the time of testing. Diagnostic tests relate to family members who have been previously diagnosed with diabetes mellitus or glucose metabolism disturbances. The preventive value of genetic testing for families is to raise awareness of the circumstances leading to glucose metabolism disorders. The detection of mutation carriers among family members of patients with GCK MODY and the determination of the clinical significance of the genetic test result. The study group included 27 families of adolescent patients with GCK MODY (39 (75%) of parents and 19 (73.08%) of siblings) monitored in the Department of Pediatrics, Endocrinology and Diabetes and in the Diabetes Clinic of John Paul II Upper Silesian Child Health Centre in Katowice in the years 2007-2012. Subjects underwent a blood sample drawing for genetic and biochemical testing. Through the genetic diagnostics we diagnosed GCK MODY in 14 (63.64%) mothers, 6 (35.29%) fathers and in 7 (36,84%) siblings. Genetic testing has contributed to the detection of 7 (26.92%) asymptomatic carriers of GCK gene mutation among parents and 3 (15,79%) asymptomatic carriers among siblings declaring no carbohydrate metabolism disturbances (before genetic testing there were no indications suggesting carbohydrate metabolism disturbances; OGTT were performed after positive genetic testing). Each case of mutation detection, which is the cause of monogenic diabetes in a patient, justifies the genetic testing in other members of his/her family. Awareness of the genetic status may allow sick family member to confirm the diagnosis, while asymptomatic mutation carriers could benefit from an early clinical observation. Consequently, in each case it gives an opportunity to take diagnostic and therapeutic measures in accordance with the current state of

A dichotomy for upper domination in monogenic classes

KAUST Repository

AbouEisha, Hassan M.

2014-01-01

An upper dominating set in a graph is a minimal (with respect to set inclusion) dominating set of maximum cardinality. The problem of finding an upper dominating set is NP-hard for general graphs and in many restricted graph families. In the present paper, we study the computational complexity of this problem in monogenic classes of graphs (i.e. classes defined by a single forbidden induced subgraph) and show that the problem admits a dichotomy in this family. In particular, we prove that if the only forbidden induced subgraph is a P4 or a 2K2 (or any induced subgraph of these graphs), then the problem can be solved in polynomial time. Otherwise, it is NP-hard.

Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.

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Kohlsdorf, Katja; Nunziata, Adriana; Funcke, Jan-Bernd; Brandt, Stephanie; von Schnurbein, Julia; Vollbach, Heike; Lennerz, Belinda; Fritsch, Maria; Greber-Platzer, Susanne; Fröhlich-Reiterer, Elke; Luedeke, Manuel; Borck, Guntram; Debatin, Klaus-Michael; Fischer-Posovszky, Pamela; Wabitsch, Martin

2018-02-27

To evaluate whether early childhood body mass index (BMI) is an appropriate indicator for monogenic obesity. A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed. A control group (CTRL) was defined that consisted of n = 22 obese adolescents with no mutation in the above mentioned genes. Early childhood (0-5 years) BMI trajectories were compared between the groups at selected time points. The LEP and LEPR group showed a tremendous increase in BMI during the first 2 years of life with all patients displaying a BMI >27 kg/m 2 (27.2-38.4 kg/m 2 ) and %BMI P95 (percentage of the 95th percentile BMI for age and sex) >140% (144.8-198.6%) at the age of 2 years and a BMI > 33 kg/m 2 (33.3-45.9 kg/m 2 ) and %BMI P95  > 184% (184.1-212.6%) at the age of 5 years. The MC4R and CTRL groups had a later onset of obesity with significantly lower BMI values at both time points (p BMI trajectories in this pediatric cohort with monogenic obesity we suggest that BMI values >27.0 kg/m 2 or %BMI P95  > 140% at the age of 2 years and BMI values >33.0 kg/m 2 or %BMI P95  > 184% at the age of 5 years may be useful cut points to identify children who should undergo genetic screening for monogenic obesity due to functionally relevant mutations in the leptin gene or leptin receptor gene.

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Science.gov (United States)

Tan, Tiong Yang; Dillon, Oliver James; Stark, Zornitza; Schofield, Deborah; Alam, Khurshid; Shrestha, Rupendra; Chong, Belinda; Phelan, Dean; Brett, Gemma R; Creed, Emma; Jarmolowicz, Anna; Yap, Patrick; Walsh, Maie; Downie, Lilian; Amor, David J; Savarirayan, Ravi; McGillivray, George; Yeung, Alison; Peters, Heidi; Robertson, Susan J; Robinson, Aaron J; Macciocca, Ivan; Sadedin, Simon; Bell, Katrina; Oshlack, Alicia; Georgeson, Peter; Thorne, Natalie; Gaff, Clara; White, Susan M

2017-09-01

Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding of who should be considered for testing and when it should be performed to maximize clinical utility and cost-effectiveness. To investigate the impact of WES in sequencing-naive children suspected of having a monogenic disorder and evaluate its cost-effectiveness if WES had been available at different time points in their diagnostic trajectory. This prospective study was part of the Melbourne Genomics Health Alliance demonstration project. At the ambulatory outpatient clinics of the Victorian Clinical Genetics Services at the Royal Children's Hospital, Melbourne, Australia, children older than 2 years suspected of having a monogenic disorder were prospectively recruited from May 1 through November 30, 2015, by clinical geneticists after referral from general and subspecialist pediatricians. All children had nondiagnostic microarrays and no prior single-gene or panel sequencing. All children underwent singleton WES with targeted phenotype-driven analysis. The study examined the clinical utility of a molecular diagnosis and the cost-effectiveness of alternative diagnostic trajectories, depending on timing of WES. Of 61 children originally assessed, 44 (21 [48%] male and 23 [52%] female) aged 2 to 18 years (mean age at initial presentation, 28 months; range, 0-121 months) were recruited, and a diagnosis was achieved in 23 (52%) by singleton WES. The diagnoses were unexpected in 8 of 23 (35%), and clinical management was altered in 6 of 23 (26%). The mean duration of the diagnostic odyssey was 6 years, with each child having a mean of 19 tests and 4 clinical genetics and 4 nongenetics specialist consultations, and 26 (59%) underwent a procedure while under general anesthetic for diagnostic purposes. Economic analyses of the diagnostic trajectory identified that WES performed at initial tertiary presentation resulted in an incremental cost savings of A$9020 (US$6838) per

Polytene chromosomes of monogenic and amphogenic Chrysomya species (Calliphoridae, Diptera): analysis of banding patterns and in situ hybridization with Drosophila sex determining gene sequences.

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Puchalla, S

1994-03-01

Standard maps for the five banded polytene chromosomes found in trichogen cell nuclei of the monogenic blowfly Chrysomya rufifacies and the amphogenic Chrysomya pinguis are presented. The chromosomes are highly homologous in the two species; differences in banding patterns are predominantly caused by one pericentric and ten paracentric inversions. In chromosome 5 of the amphogenic Chrysomya phaonis, also analysed in this paper, an additional paracentric inversion was observed. The distribution of species specific inversions indicates that the monogenic C. rufifacies is phylogenetically older than the amphogenic species. The maternal sex realizer locus F'/f on polytene chromosome 5 of C. rufifacies is not associated with a structural heterozygosity. Chromosome pair 6 of C. rufifacies and the sex chromosome pair of C. pinguis are under-replicated in polytene nuclei; they consist of irregular chromatin granules, frequently associated with nucleolus material. Evolution of heteromorphic sex chromosomes in Chrysomya is probably correlated with heterochromatin accumulation. A search for sex determining genes in Chrysomya was initiated using sex determining sequences from Drosophila melanogaster for in situ hybridization. The polytene band 41A1 on chromosome 5 of monogenic and amphogenic Chrysomya species contains sequences homologous to the maternal sex determining gene daughterless (da). Homology to the zygotic gene Sex-lethal (Sxl) of Drosophila is detected in band 39A1 on chromosome 5 of C. rufifacies. The findings reported here are the first evidence for a possible homology between the da gene of Drosophila and the maternal sex realizer F' of C. rufifacies. An hypothesis for the evolution of the maternal effect sex determination of C. rufifacies is proposed.

Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD.

Science.gov (United States)

Ensari, Arzu; Kelsen, Judith; Russo, Pierre

2018-01-01

Childhood enteropathies are a group of diseases causing severe chronic (>2-3 weeks) diarrhoea often starting in the first week of life with the potential for fatal complications for the affected infant. Early identification and accurate classification of childhood enteropathies are, therefore, crucial for making treatment decisions to prevent life-threatening complications. Childhood enteropathies are classified into four groups based on the underlying pathology: (i) conditions related to defective digestion, absorption and transport of nutrients and electrolytes; (ii) disorders related to enterocyte differentiation and polarization; (iii) defects of enteroendocrine cell differentiation; and (iv) disorders associated with defective modulation of intestinal immune response. While the intestinal mucosa is usually normal in enteropathies related to congenital transport or enzyme deficiencies, the intestinal biopsy in other disorders may reveal a wide range of abnormalities varying from normal villous architecture to villous atrophy and/or inflammation, or features specific to the underlying disorder including epithelial abnormalities, lipid vacuolization in the enterocytes, absence of plasma cells, lymphangiectasia, microorganisms, and mucosal eosinophilic or histiocytic infiltration. This review intends to provide an update on small intestinal biopsy findings in childhood enteropathies, the "newcomers", including very early onset monogenic inflammatory bowel disease (IBD), in particular, for the practicing pathologist.

Estimation of cardiac motion in cine-MRI sequences by correlation transform optical flow of monogenic features distance

Science.gov (United States)

Gao, Bin; Liu, Wanyu; Wang, Liang; Liu, Zhengjun; Croisille, Pierre; Delachartre, Philippe; Clarysse, Patrick

2016-12-01

Cine-MRI is widely used for the analysis of cardiac function in clinical routine, because of its high soft tissue contrast and relatively short acquisition time in comparison with other cardiac MRI techniques. The gray level distribution in cardiac cine-MRI is relatively homogenous within the myocardium, and can therefore make motion quantification difficult. To ensure that the motion estimation problem is well posed, more image features have to be considered. This work is inspired by a method previously developed for color image processing. The monogenic signal provides a framework to estimate the local phase, orientation, and amplitude, of an image, three features which locally characterize the 2D intensity profile. The independent monogenic features are combined into a 3D matrix for motion estimation. To improve motion estimation accuracy, we chose the zero-mean normalized cross-correlation as a matching measure, and implemented a bilateral filter for denoising and edge-preservation. The monogenic features distance is used in lieu of the color space distance in the bilateral filter. Results obtained from four realistic simulated sequences outperformed two other state of the art methods even in the presence of noise. The motion estimation errors (end point error) using our proposed method were reduced by about 20% in comparison with those obtained by the other tested methods. The new methodology was evaluated on four clinical sequences from patients presenting with cardiac motion dysfunctions and one healthy volunteer. The derived strain fields were analyzed favorably in their ability to identify myocardial regions with impaired motion.

Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

Science.gov (United States)

Dreesen, Jos; Destouni, Aspasia; Kourlaba, Georgia; Degn, Birte; Mette, Wulf Christensen; Carvalho, Filipa; Moutou, Celine; Sengupta, Sioban; Dhanjal, Seema; Renwick, Pamela; Davies, Steven; Kanavakis, Emmanouel; Harton, Gary; Traeger-Synodinos, Joanne

2014-01-01

Preimplantation genetic diagnosis (PGD) for monogenic disorders currently involves polymerase chain reaction (PCR)-based methods, which must be robust, sensitive and highly accurate, precluding misdiagnosis. Twelve adverse misdiagnoses reported to the ESHRE PGD-Consortium are likely an underestimate. This retrospective study, involving six PGD centres, assessed the validity of PCR-based PGD through reanalysis of untransferred embryos from monogenic-PGD cycles. Data were collected on the genotype concordance at PGD and follow-up from 940 untransferred embryos, including details on the parameters of PGD cycles: category of monogenic disease, embryo morphology, embryo biopsy and genotype assay strategy. To determine the validity of PCR-based PGD, the sensitivity (Se), specificity (Sp) and diagnostic accuracy were calculated. Stratified analyses were also conducted to assess the influence of the parameters above on the validity of PCR-based PGD. The analysis of overall data showed that 93.7% of embryos had been correctly classified at the time of PGD, with Se of 99.2% and Sp of 80.9%. The stratified analyses found that diagnostic accuracy is statistically significantly higher when PGD is performed on two cells versus one cell (P=0.001). Se was significantly higher when multiplex protocols versus singleplex protocols were applied (P=0.005), as well as for PGD applied on cells from good compared with poor morphology embryos (P=0.032). Morphology, however, did not affect diagnostic accuracy. Multiplex PCR-based methods on one cell, are as robust as those on two cells regarding false negative rate, which is the most important criteria for clinical PGD applications. Overall, this study demonstrates the validity, robustness and high diagnostic value of PCR-based PGD. PMID:24301057

Management of suspected monogenic lung fibrosis in a specialised centre

Directory of Open Access Journals (Sweden)

Raphael Borie

2017-04-01

Full Text Available At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis. Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression. Moreover, relatives may benefit from a clinical and genetic evaluation that should be specifically managed. The field of genetics of pulmonary fibrosis has made great progress in the last 10 years, raising specific problems that should be addressed by a specialised team.

Strategies to Advance Drug Discovery in Rare Monogenic Intellectual Disability Syndromes

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Hettige, Nuwan C; Manzano-Vargas, Karla; Jefri, Malvin; Ernst, Carl

2018-01-01

Abstract Some intellectual disability syndromes are caused by a mutation in a single gene and have been the focus of therapeutic intervention attempts, such as Fragile X and Rett Syndrome, albeit with limited success. The rate at which new drugs are discovered and tested in humans for intellectual disability is progressing at a relatively slow pace. This is particularly true for rare diseases where so few patients make high-quality clinical trials challenging. We discuss how new advances in human stem cell reprogramming and gene editing can facilitate preclinical study design and we propose new workflows for how the preclinical to clinical trajectory might proceed given the small number of subjects available in rare monogenic intellectual disability syndromes. PMID:29040584

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Science.gov (United States)

Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A; Friedman, Jan M; Geraghty, Michael T; Hume, Stacey; Knoppers, Bartha M; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M Stephen; Michaud, Jacques L; Nelson, Tanya N; Richer, Julie; Sadikovic, Bekim; Skidmore, David L; Stockley, Tracy; Taylor, Sherry; van Karnebeek, Clara; Zawati, Ma'n H; Lauzon, Julie; Armour, Christine M

2015-07-01

The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it does not address the clinical application of this technology in other fields such as molecular investigation of cancer or for population screening of healthy individuals. Two multidisciplinary groups consisting of medical geneticists, clinical laboratory geneticists, genetic counsellors, ethicists, lawyers and genetic researchers were assembled to review existing literature and guidelines on genome-wide sequencing for clinical genetic diagnosis in the context of monogenic diseases, and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. Recommendations include (1) clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis; (2) until the benefits of reporting incidental findings are established, we do not endorse the intentional clinical analysis of disease-associated genes other than those linked to the primary indication; and (3) clinicians should

Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia[S

Science.gov (United States)

Medeiros, Ana Margarida; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, Mafalda

2014-01-01

The distinction between a monogenic dyslipidemia and a polygenic/environmental dyslipidemia is important for the cardiovascular risk assessment, counseling, and treatment of these patients. The present work aims to perform the cardiovascular risk assessment of dyslipidemic children to identify useful biomarkers for clinical criteria improvement in clinical settings. Main cardiovascular risk factors were analyzed in a cohort of 237 unrelated children with clinical diagnosis of familial hypercholesterolemia (FH). About 40% carried at least two cardiovascular risk factors and 37.6% had FH, presenting mutations in LDLR and APOB. FH children showed significant elevated atherogenic markers and lower concentration of antiatherogenic particles. Children without a molecular diagnosis of FH had higher levels of TGs, apoC2, apoC3, and higher frequency of BMI and overweight/obesity, suggesting that environmental factors can be the underlying cause of their hypercholesterolem≥ia. An apoB/apoA1 ratio ≥0.68 was identified as the best biomarker (area under the curve = 0.835) to differentiate FH from other dyslipidemias. The inclusion in clinical criteria of a higher cut-off point for LDL cholesterol or an apoB/apoA1 ratio ≥0.68 optimized the criteria sensitivity and specificity. The correct identification, at an early age, of all children at-risk is of great importance so that specific interventions can be implemented. apoB/apoA1 can improve the identification of FH patients. PMID:24627126

U-Form vs. M-Form: How to Understand Decision Autonomy Under Healthcare Decentralization?

Science.gov (United States)

Bustamante, Arturo Vargas

2016-01-01

For more than three decades healthcare decentralization has been promoted in developing countries as a way of improving the financing and delivery of public healthcare. Decision autonomy under healthcare decentralization would determine the role and scope of responsibility of local authorities. Jalal Mohammed, Nicola North, and Toni Ashton analyze decision autonomy within decentralized services in Fiji. They conclude that the narrow decision space allowed to local entities might have limited the benefits of decentralization on users and providers. To discuss the costs and benefits of healthcare decentralization this paper uses the U-form and M-form typology to further illustrate the role of decision autonomy under healthcare decentralization. This paper argues that when evaluating healthcare decentralization, it is important to determine whether the benefits from decentralization are greater than its costs. The U-form and M-form framework is proposed as a useful typology to evaluate different types of institutional arrangements under healthcare decentralization. Under this model, the more decentralized organizational form (M-form) is superior if the benefits from flexibility exceed the costs of duplication and the more centralized organizational form (U-form) is superior if the savings from economies of scale outweigh the costly decision-making process from the center to the regions. Budgetary and financial autonomy and effective mechanisms to maintain local governments accountable for their spending behavior are key decision autonomy variables that could sway the cost-benefit analysis of healthcare decentralization. PMID:27694684

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

Science.gov (United States)

Stark, Zornitza; Tan, Tiong Y; Chong, Belinda; Brett, Gemma R; Yap, Patrick; Walsh, Maie; Yeung, Alison; Peters, Heidi; Mordaunt, Dylan; Cowie, Shannon; Amor, David J; Savarirayan, Ravi; McGillivray, George; Downie, Lilian; Ekert, Paul G; Theda, Christiane; James, Paul A; Yaplito-Lee, Joy; Ryan, Monique M; Leventer, Richard J; Creed, Emma; Macciocca, Ivan; Bell, Katrina M; Oshlack, Alicia; Sadedin, Simon; Georgeson, Peter; Anderson, Charlotte; Thorne, Natalie; Melbourne Genomics Health Alliance; Gaff, Clara; White, Susan M

2016-11-01

To prospectively evaluate the diagnostic and clinical utility of singleton whole-exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease. Singleton WES was performed as a first-tier sequencing test in infants recruited from a single pediatric tertiary center. This occurred in parallel with standard investigations, including single- or multigene panel sequencing when clinically indicated. The diagnosis rate, clinical utility, and impact on management of singleton WES were evaluated. Of 80 enrolled infants, 46 received a molecular genetic diagnosis through singleton WES (57.5%) compared with 11 (13.75%) who underwent standard investigations in the same patient group. Clinical management changed following exome diagnosis in 15 of 46 diagnosed participants (32.6%). Twelve relatives received a genetic diagnosis following cascade testing, and 28 couples were identified as being at high risk of recurrence in future pregnancies. This prospective study provides strong evidence for increased diagnostic and clinical utility of singleton WES as a first-tier sequencing test for infants with a suspected monogenic disorder. Singleton WES outperformed standard care in terms of diagnosis rate and the benefits of a diagnosis, namely, impact on management of the child and clarification of reproductive risks for the extended family in a timely manner.Genet Med 18 11, 1090-1096.

Migraine genetics : from monogenic to complex forms

NARCIS (Netherlands)

Vanmolkot, Kaate Raymond Josepha

2008-01-01

Migraine has a strong genetic component, but the identification of these factors has proven difficult mainly because of the complex interaction of multiple loci and environmental factors. Unraveling its molecular basis and deciphering pathways leading to migraine attacks will help identifying novel

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

Science.gov (United States)

Vivante, Asaf; Ityel, Hadas; Pode-Shakked, Ben; Chen, Jing; Shril, Shirlee; van der Ven, Amelie T; Mann, Nina; Schmidt, Johanna Magdalena; Segel, Reeval; Aran, Adi; Zeharia, Avraham; Staretz-Chacham, Orna; Bar-Yosef, Omer; Raas-Rothschild, Annick; Landau, Yuval E; Lifton, Richard P; Anikster, Yair; Hildebrandt, Friedhelm

2017-12-01

Rhabdomyolysis is a clinical emergency that may cause acute kidney injury (AKI). It can be acquired or due to monogenic mutations. Around 60 different rare monogenic forms of rhabdomyolysis have been reported to date. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to nonspecific presentation, the high number of causative genes, and current lack of data on the prevalence of monogenic forms. We employed whole exome sequencing (WES) to reveal the percentage of rhabdomyolysis cases explained by single-gene (monogenic) mutations in one of 58 candidate genes. We investigated a cohort of 21 unrelated families with rhabdomyolysis, in whom no underlying etiology had been previously established. Using WES, we identified causative mutations in candidate genes in nine of the 21 families (43%). We detected disease-causing mutations in eight of 58 candidate genes, grouped into the following categories: (1) disorders of fatty acid metabolism (CPT2), (2) disorders of glycogen metabolism (PFKM and PGAM2), (3) disorders of abnormal skeletal muscle relaxation and contraction (CACNA1S, MYH3, RYR1 and SCN4A), and (4) disorders of purine metabolism (AHCY). Our findings demonstrate a very high detection rate for monogenic etiologies using WES and reveal broad genetic heterogeneity for rhabdomyolysis. These results highlight the importance of molecular genetic diagnostics for establishing an etiologic diagnosis. Because these patients are at risk for recurrent episodes of rhabdomyolysis and subsequent risk for AKI, WES allows adequate prophylaxis and treatment for these patients and their family members and enables a personalized medicine approach.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

OpenAIRE

Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A; Friedman, Jan M; Geraghty, Michael T; Hume, Stacey; Knoppers, Bartha M; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M Stephen; Michaud, Jacques L

2015-01-01

Purpose and scope The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it...

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.

Science.gov (United States)

Guissart, Claire; Debant, Vanessa; Desgeorges, Marie; Bareil, Corinne; Raynal, Caroline; Toga, Caroline; Pritchard, Victoria; Koenig, Michel; Claustres, Mireille; Vincent, Marie-Claire

2015-02-01

Analysis of circulating cell-free fetal DNA (cffDNA) in maternal plasma is very promising for early diagnosis of monogenic diseases. However, this approach is not yet available for routine use and remains technically challenging because of the low concentration of cffDNA, which is swamped by the overwhelming maternal DNA. To make clinical applications more readily accessible, we propose a new approach based on mutant enrichment with 3'-modified oligonucleotides (MEMO) PCR along with real-time PCR to selectively amplify from the maternal blood the paternally inherited fetal allele that is not present in the maternal genome. The first proof of concept of this strategy was displayed for cystic fibrosis by the accuracy of our detection of the p.Gly542* mutation used as the initial developmental model. Subsequently, a retrospective study of plasmas originating from two pregnant women carrying a fetus with private mutation confirmed the effectiveness of our method. We confirmed the presence of cffDNA in the studied samples by the identification of a tri-allelic DNA profile using a miniSTR kit. This new non-invasive prenatal diagnosis test offers numerous advantages over current methods: it is simple, cost effective, time efficient and does not require complex equipment or bioinformatics settings. Moreover, our assays for different private mutations demonstrate the viability of this approach in clinical settings for monogenic disorders.

Interpolation problem for the solutions of linear elasticity equations based on monogenic functions

Science.gov (United States)

Grigor'ev, Yuri; Gürlebeck, Klaus; Legatiuk, Dmitrii

2017-11-01

Interpolation is an important tool for many practical applications, and very often it is beneficial to interpolate not only with a simple basis system, but rather with solutions of a certain differential equation, e.g. elasticity equation. A typical example for such type of interpolation are collocation methods widely used in practice. It is known, that interpolation theory is fully developed in the framework of the classical complex analysis. However, in quaternionic analysis, which shows a lot of analogies to complex analysis, the situation is more complicated due to the non-commutative multiplication. Thus, a fundamental theorem of algebra is not available, and standard tools from linear algebra cannot be applied in the usual way. To overcome these problems, a special system of monogenic polynomials the so-called Pseudo Complex Polynomials, sharing some properties of complex powers, is used. In this paper, we present an approach to deal with the interpolation problem, where solutions of elasticity equations in three dimensions are used as an interpolation basis.

[Identification of the genetic sex chromosomes in the monogenic blowfly Chrysomya rufifacies (Calliphoridae, Diptera)].

Science.gov (United States)

Ullerich, F H

1975-01-01

Previous investigations have shown the sex determination in the monogenic blowfly Chrysomya rufifacies to be controlled by a cytologically not discernible homogametry-heterogamety mechanism in the female. Female-producing (thelygenic) females are assumed to be heterozygous for a dominant female sex realizer (F') with sex-predetermining properties, while male-producing (arrhenogenic) females as well as males are supposed to be homozygous for the recessive allele (f). In order to identify the genetic sex chromosomes of C. rufifacies among its five pairs of long euchromatic chromosomes (nos. 1-5) plus one pair of small heterochromatic ones (no. 6), all chromosomes were marked by reciprocal translocations induced by X-ray treatment of adult males. The inheritance of thirteen different heteroxygous translocations has been analyzed. All of the translocations (eleven) between two of the four longer chromosomes did not show sex-linked inheritance, thus demonstrating the autosomal character of the chromosomes nos 1, 2, 3 and 4. The same is true for the translocation T6 (2/6). Therefore the small heterochromatic chromosome no. 6, corresponding to the morphlogically differentiated six chromosomes within the amphogenic calliphorid species, remains without sex determining function in the monogenic fly. This could be confirmed by the analysis of monosomic (monosomy-6) and trisomic (trisomy-6) individuals, which resulted from meiotic non-disfunction in T6/+ translocation heterozygotes. Contrary to these translocations, the heteroxygous 5/2 translocation (T14) exhibited sex-linked inheritance: There was but a very low frequency (0,76 per cent) of recombinants resulting from crossing-over between F'/f and the translocation breakage point in theylgenic F1 T14/+females. The sex-linked inheritance of T14 was confirmed by the progeny of a thelygenic F1 T14/+ female crossed to a homozygous T14/T14 translocation male.Among the offspring of that F1 T14/+ female, which had received the

Simulation of the ductile damage under the metal forming

International Nuclear Information System (INIS)

Bogatov, A. A.

2003-01-01

Potentiality of metal forming is limited by ductile damage. The damage degree is estimated by the scalar value ω, that is equal to 0(ω=0) before plastic strain and is equal to 1(ω=1) at the macro cracks moment. There are two criteria that describe micro damage. The value ω=ω * corresponds to the generation of micro voids that couldn't be recovered by recrystallization but do not reduce the metal strength. The value ω=ω ** corresponds to the generation of micro voids that reduce the metal strength and material long life. The models of metal damage accumulation under pure and alternate strain also the model of metal damage recovery under the recrystallization are developed. The specimen testing at high loading parameters gives the basic equations of the ductile damage mechanics. All of that gives the method to study ductile damage under the metal forming. The methodology damage nucleation and growing is shown on various examples: the void and crack development in the areas ductile damage and unlimited ductility; mathematical simulation of the metal damage under the sheet and wire drawing and others. The problems of physical simulating at the ductile damage under metal forming are shown too in this paper. The method and equipment of metal damage physical simulation are proposed. (Original)

Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease

DEFF Research Database (Denmark)

Kasten, Meike; Kertelge, Lena; Tadic, Vera

2012-01-01

, and 44% of manifesting carriers of mutations in PD genes, but was rare in the nonmanifesting carriers (7%) and healthy controls (5%). Subjects with Parkinson-associated depression reported fewer feelings of guilt or self-doubt than treated controls, but the occurrence of suicidal ideation was associated......Quality of life (QoL) is decreased in PD and is linked with depression and anxiety. However, little is known about QoL in monogenic PD. Subjects with mutations in PD genes were recruited from ongoing family and genetic studies (manifesting carriers, n = 23; nonmanifesting carriers, n = 19......). For comparison purposes, we included patients with idiopathic PD (IPD; n = 128; early onset, n = 38; late onset, n = 90), healthy controls (n = 127), and data on depressive symptoms of 144 patients with major depression (treated controls). Depression affected 31% of early-onset PD cases, 21% of late-onset cases...

[Preimplantation genetic diagnosis and monogenic inherited eye diseases].

Science.gov (United States)

Hlavatá, L; Ďuďáková, Ľ; Trková, M; Soldátová, I; Skalická, P; Kousal, B; Lišková, P

.Key words: preimplantation genetic diagnosis; monogenic eye diseases; in vitro fertilization.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Science.gov (United States)

Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A; Friedman, Jan M; Geraghty, Michael T; Hume, Stacey; Knoppers, Bartha M; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M Stephen; Michaud, Jacques L; Nelson, Tanya N; Richer, Julie; Sadikovic, Bekim; Skidmore, David L; Stockley, Tracy; Taylor, Sherry; van Karnebeek, Clara; Zawati, Ma'n H; Lauzon, Julie; Armour, Christine M

2015-01-01

Purpose and scope The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it does not address the clinical application of this technology in other fields such as molecular investigation of cancer or for population screening of healthy individuals. Methods of statement development Two multidisciplinary groups consisting of medical geneticists, clinical laboratory geneticists, genetic counsellors, ethicists, lawyers and genetic researchers were assembled to review existing literature and guidelines on genome-wide sequencing for clinical genetic diagnosis in the context of monogenic diseases, and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. Results and conclusions Recommendations include (1) clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis; (2) until the benefits of reporting incidental findings are established, we do not endorse the intentional clinical analysis of disease-associated genes

Leaching experiment of cement solidified waste form under unsaturated condition

International Nuclear Information System (INIS)

Wang Zhiming; Yao Laigen; Li Shushen; Zhao Yingjie; Cai Yun; Li Dan; Han Xinsheng; An Yongfeng

2003-01-01

A device for unsaturated leaching experiments was designed and built up. 8 different sizes, ranging from 40.2 cm 3 to 16945.5 cm 3 , of solidified waste form were tested in the experiment. 5 different water contents, from 0.15 to 0.40, were used for the experiment. The results show that the cumulative leaching fraction increases with water content when the sizes of the forms are equal to and less than 4586.7 cm 3 , for example, the ratios of the cumulative leaching fractions are between 1.24-1.41 under water content of 0.35 and 0.15 on 360 day of Teaching. It can also be seen that the cumulative leaching fraction under higher water content is close to that under saturated condition. The cumulative leaching fraction decreases with size of the form. Maximum leached depth of the solidified waste forms is about 2.25 cm after one year Teaching. Moreover, it has no clear effect on cumulative leaching fraction that sampling or non-sampling during the experiment

Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.

Directory of Open Access Journals (Sweden)

Degui Zhi

Full Text Available Recently, whole-genome sequencing, especially exome sequencing, has successfully led to the identification of causal mutations for rare monogenic Mendelian diseases. However, it is unclear whether this approach can be generalized and effectively applied to other Mendelian diseases with high locus heterogeneity. Moreover, the current exome sequencing approach has limitations such as false positive and false negative rates of mutation detection due to sequencing errors and other artifacts, but the impact of these limitations on experimental design has not been systematically analyzed. To address these questions, we present a statistical modeling framework to calculate the power, the probability of identifying truly disease-causing genes, under various inheritance models and experimental conditions, providing guidance for both proper experimental design and data analysis. Based on our model, we found that the exome sequencing approach is well-powered for mutation detection in recessive, but not dominant, Mendelian diseases with high locus heterogeneity. A disease gene responsible for as low as 5% of the disease population can be readily identified by sequencing just 200 unrelated patients. Based on these results, for identifying rare Mendelian disease genes, we propose that a viable approach is to combine, sequence, and analyze patients with the same disease together, leveraging the statistical framework presented in this work.

Lipoprotein distribution and serum concentrations of 7α-hydroxy-4-cholesten-3-one and bile acids: effects of monogenic disturbances in high-density lipoprotein metabolism

DEFF Research Database (Denmark)

Steiner, Carine; Holleboom, Adriaan G; Karuna, Ratna

2012-01-01

BA (bile acid) formation is considered an important final step in RCT (reverse cholesterol transport). HDL (high-density lipoprotein) has been reported to transport BAs. We therefore investigated the effects of monogenic disturbances in human HDL metabolism on serum concentrations and lipoprotein...... concentrations of conjugated and secondary BAs differed between heterozygous carriers of SCARB1 (scavenger receptor class B1) mutations and unaffected individuals (P...

Characterizing haploinsufficiency of SHELL gene to improve fruit form prediction in introgressive hybrids of oil palm.

Science.gov (United States)

Teh, Chee-Keng; Muaz, Siti Dalila; Tangaya, Praveena; Fong, Po-Yee; Ong, Ai-Ling; Mayes, Sean; Chew, Fook-Tim; Kulaveerasingam, Harikrishna; Appleton, David

2017-06-08

The fundamental trait in selective breeding of oil palm (Eleais guineensis Jacq.) is the shell thickness surrounding the kernel. The monogenic shell thickness is inversely correlated to mesocarp thickness, where the crude palm oil accumulates. Commercial thin-shelled tenera derived from thick-shelled dura × shell-less pisifera generally contain 30% higher oil per bunch. Two mutations, sh MPOB (M1) and sh AVROS (M2) in the SHELL gene - a type II MADS-box transcription factor mainly present in AVROS and Nigerian origins, were reported to be responsible for different fruit forms. In this study, we have tested 1,339 samples maintained in Sime Darby Plantation using both mutations. Five genotype-phenotype discrepancies and eight controls were then re-tested with all five reported mutations (sh AVROS , sh MPOB , sh MPOB2 , sh MPOB3 and sh MPOB4 ) within the same gene. The integration of genotypic data, pedigree records and shell formation model further explained the haploinsufficiency effect on the SHELL gene with different number of functional copies. Some rare mutations were also identified, suggesting a need to further confirm the existence of cis-compound mutations in the gene. With this, the prediction accuracy of fruit forms can be further improved, especially in introgressive hybrids of oil palm. Understanding causative variant segregation is extremely important, even for monogenic traits such as shell thickness in oil palm.

Monogenic diabetes associated with PAX4 gene mutations (MODY9: first description in Russia

Directory of Open Access Journals (Sweden)

Natalya A. Zubkova

2017-12-01

Full Text Available Maturity-onset diabetes of the young (MODY is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. To date, at least 13 subtypes of MODY have been described in the literature, the most frequent of which are MODY types 1–3. MODY2 and MODY3 are the most prevalent subtypes, and were previously described in our country, Russia. Several cases of rare MODY subtypes were subsequently described in the Russian literature. The current report is the first in the Russian literature to present clinical and molecular genetic characteristics of two cases of another rare MODY subtype—MODY9. This type of MODY is associated with mutations in the PAX4 gene, which encodes transcription factor PAX4, one of the factors essential for pancreatic beta-cell differentiation. Molecular genetic analysis was performed using next-generation sequencing, a new method recently applied to verify monogenic diseases and, in particular, MODY. This study reports a novel mutation in the PAX4 gene in MODY patients.

Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism

DEFF Research Database (Denmark)

Karuna, Ratna; Holleboom, Adriaan G; Motazacker, Mohammad M

2011-01-01

Secretion of 27-hydroxycholesterol (27OHC) from macrophages is considered as an alternative to HDL-mediated reverse transport of excess cholesterol. We investigated 27OHC-concentrations in plasma of humans and mice with monogenic disorders of HDL metabolism. As compared to family controls mutations...... activities of LCAT and CETP, respectively, than the formation and transfer of cholesterylesters. 27OHC plasma levels were also decreased in apoA-I-, ABCA1- or LCAT-knockout mice but increased in SR-BI-knockout mice. Transplantation of ABCA1- and/or ABCG1-deficient bone marrow into LDL receptor deficient mice...... decreased plasma levels of 27OHC. In conclusion, mutations or absence of HDL genes lead to distinct alterations in the quantity, esterification or lipoprotein distribution of 27OHC. These findings argue against the earlier suggestion that 27OHC-metabolism in plasma occurs independently of HDL....

Data on Student Performance Under Different Forms of Assessment

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King, Russell

1976-01-01

Recognition of various abilities and skills in university degree work, and the development of an appropriate range of assessment modes to test these abilities, presupposes that students will perform differently under the various forms of assessment. The limited data available to test this supposition are reviewed and analysis of one geography…

Glucokinase MODY and implications for treatment goals of common forms of diabetes.

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Ajjan, Ramzi A; Owen, Katharine R

2014-12-01

Treatment goals in diabetes concentrate on reducing the risk of vascular complications, largely through setting targets for glycated haemoglobin (HbA1c). These targets are based on epidemiological studies of complication development, but so far have not adequately addressed the adverse effects associated with lowering HbA1c towards the normal range. Glucokinase (GCK) mutations cause a monogenic form of hyperglycaemia (GCK-MODY) characterised by fasting hyperglycaemia with low postprandial glucose excursions and a marginally elevated HbA1c. Minimal levels of vascular complications (comparable with nondiabetic individuals) are observed in GCK-MODY, leading to the hypothesis that GCK-MODY may represent a useful paradigm for assessing treatment goals in all forms of diabetes. In this review, we discuss the evidence behind this concept, suggest ways of translating this hypothesis into clinical practice and address some of the caveats of such an approach.

17 CFR 239.24 - Form N-5, form for registration of small business investment company under the Securities Act of...

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2010-04-01

... registration of small business investment company under the Securities Act of 1933 and the Investment Company... N-5, form for registration of small business investment company under the Securities Act of 1933 and... of 1933 of securities issued by any small business investment company which is registered under the...

Inorganic insertion compounds under the form of Langmuir-Blodgett films

International Nuclear Information System (INIS)

Zylberajch, Claire

1989-01-01

As the study of organic or mineral compounds under the form of thin layers showed that they are displaying very original properties with respect to massive compounds, this research thesis reports a work which aimed at obtaining mineral conductive materials under the form of extremely thin layers, notably metallic sulfides of mercury and cadmium. Synthesis is performed in soft conditions within an organic matrix produced by using the Langmuir-Blodgett technique with successive diffusions of mineral reactants. Salt formation is monitored by infrared spectroscopy. Physical properties of these compounds have been studied by various techniques (UV, visible, and IR spectroscopy, linear dichroism, X ray diffraction, X ray photoelectron spectrometry, conduction, and so on). Structural and electronic properties of these extremely thin films confirm that metallic sulfides adopt a lamellar geometry with molecular thickness. Conductivity and photo-conductivity are interpreted by means of a conventional band diagram [fr

Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.

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Hermle, Tobias; Braun, Daniela A; Helmstädter, Martin; Huber, Tobias B; Hildebrandt, Friedhelm

2017-05-01

Steroid-resistant nephrotic syndrome is characterized by podocyte dysfunction. Drosophila garland cell nephrocytes are podocyte-like cells and thus provide a potential in vivo model in which to study the pathogenesis of nephrotic syndrome. However, relevant pathomechanisms of nephrotic syndrome have not been studied in nephrocytes. Here, we discovered that two Drosophila slit diaphragm proteins, orthologs of the human genes encoding nephrin and nephrin-like protein 1, colocalize within a fingerprint-like staining pattern that correlates with ultrastructural morphology. Using RNAi and conditional CRISPR/Cas9 in nephrocytes, we found this pattern depends on the expression of both orthologs. Tracer endocytosis by nephrocytes required Cubilin and reflected size selectivity analogous to that of glomerular function. Using RNAi and tracer endocytosis as a functional read-out, we screened Drosophila orthologs of human monogenic causes of nephrotic syndrome and observed conservation of the central pathogenetic alterations. We focused on the coenzyme Q 10 (CoQ 10 ) biosynthesis gene Coq2 , the silencing of which disrupted slit diaphragm morphology. Restoration of CoQ 10 synthesis by vanillic acid partially rescued the phenotypic and functional alterations induced by Coq2 -RNAi. Notably, Coq2 colocalized with mitochondria, and Coq2 silencing increased the formation of reactive oxygen species (ROS). Silencing of ND75 , a subunit of the mitochondrial respiratory chain that controls ROS formation independently of CoQ 10 , phenocopied the effect of Coq2 -RNAi. Moreover, the ROS scavenger glutathione partially rescued the effects of Coq2 -RNAi. In conclusion, Drosophila garland cell nephrocytes provide a model with which to study the pathogenesis of nephrotic syndrome, and ROS formation may be a pathomechanism of COQ2 -nephropathy. Copyright © 2017 by the American Society of Nephrology.

An epidemiological approach for the estimation of disease onset in Central Europe in central and peripheral monogenic retinal dystrophies.

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Prokofyeva, Elena; Wilke, Robert; Lotz, Gunnar; Troeger, Eric; Strasser, Torsten; Zrenner, Eberhart

2009-07-01

To study clinical patterns of disease onset in monogenic retinal dystrophies (MRD), using an epidemiological approach. Records of patients with MRD, seen at the University Eye Hospital Tuebingen from 1994 to 1999, were selected from a database and retrospectively reviewed. For analysis, patients were divided into 2 groups by predominant part of visual field (VF) involvement: group 1 (predominantly central involvement) included Stargardt disease (ST), macular dystrophy (MD), and central areolar choroidal dystrophy (CACD), and group 2 (predominantly peripheral involvement) included Bardet-Biedl syndrome (BBD), Usher syndrome (USH) I and II, and choroideremia (CHD). Age, sex, age of first diagnosis, age of visual acuity (VA) decrease and VF emergence, night blindness and photophobia onset, types of VF defects and age of its onset, color discrimination defects and best corrected VA were analyzed. Records of 259 patients were studied. Men were more prevalent than women. Mean age of the patients was 47.2 (SD = 15.6) years old. Forty-five patients in the first group and 40 in the second were first diagnosed between 21 and 30 years of age. Ninety-four patients in the first group had VA decrease before 30 years of age; in the second group, 68 patients had VA decrease onset between 21 and 40 years of age. Forty-four patients in the first group noticed VF at an age between 21 and 30 years, and 74 patients between 11 and 30 years in the second group. Central scotoma was typical for the first group, and was detected in 115 patients. Concentric constriction was typical for the second group, and was found in 81 patients. Half of patients in both groups preserved best-corrected VA in the better eye at a level of 20/40 or better; 7% in the first group and 6% in the second group were registered as legally blind according to WHO criteria, having VA <1/50 or VF <5 degrees . Diagnosis frequency was USH I and II-34%, ST-31%, MD-18%, CHD-14%, BBD-5%. An epidemiological approach to the

GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.

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Carmody, David; Naylor, Rochelle N; Bell, Charles D; Berry, Shivani; Montgomery, Jazzmyne T; Tadie, Elizabeth C; Hwang, Jessica L; Greeley, Siri Atma W; Philipson, Louis H

2016-10-01

GCK-MODY leads to mildly elevated blood glucose typically not requiring therapy. It has been described in all ethnicities, but mainly in Caucasian Europeans. Here we describe our US cohort of GCK-MODY. We examined the rates of detection of heterozygous mutations in the GCK gene in individuals referred to the US Monogenic Diabetes Registry with a phenotype consistent with GCK-MODY. We also assessed referral patterns, treatment and demography, including ethnicity, of the cohort. Deleterious heterozygous GCK mutations were found in 54.7 % of Registry probands selected for GCK sequencing for this study. Forty-nine percent were previously unnecessarily treated with glucose-lowering agents, causing hypoglycemia and other adverse effects in some of the subjects. The proportion of probands found to have a GCK mutation through research-based testing was similar across each ethnic group. However, together African-American, Latino and Asian subjects represented only 20.5 % of screened probands and 17.2 % of those with GCK-MODY, despite higher overall diabetes prevalence in these groups. Our data show that a high detection rate of GCK-MODY is possible based on clinical phenotype and that prior to genetic diagnosis, a large percentage are inappropriately treated with glucose-lowering therapies. We also find low minority representation in our Registry, which may be due to disparities in diagnostic diabetes genetic testing and is an area needing further investigation.

Changes in the solid state of anhydrous and hydrated forms of sodium naproxen under different grinding and environmental conditions: Evidence of the formation of new hydrated forms.

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Censi, Roberta; Rascioni, Riccardo; Di Martino, Piera

2015-05-01

The aim of the present work was to investigate the solid state change of the anhydrous and hydrate solid forms of sodium naproxen under different grinding and environmental conditions. Grinding was carried out manually in a mortar under the following conditions: at room temperature under air atmosphere (Method A), in the presence of liquid nitrogen under air atmosphere (Method B), at room temperature under nitrogen atmosphere (Method C), and in the presence of liquid nitrogen under nitrogen atmosphere (Method D). Among the hydrates, the following forms were used: a dihydrate form (DSN) obtained by exposing the anhydrous form at 55% RH; a dihydrate form (CSN) obtained by crystallizing sodium naproxen from water; the tetrahydrate form (TSN) obtained by exposing the anhydrous form at 75% RH. The metastable monohydrate form (MSN), previously described in the literature, was not used because of its high physical instability. The chemical stability during grinding was firstly assessed and proven by HPLC. Modification of the particle size and shape, and changes in the solid state under different grinding methods were evaluated by scanning electron microscopy, and X-ray powder diffractometry and thermogravimetry, respectively. The study demonstrated the strong influence of starting form, grinding and environmental conditions on particle size, shape and solid state of recovered sodium naproxen forms. In particular, it was demonstrated that in the absence of liquid nitrogen (Methods A and C), either at air or at nitrogen atmosphere, the monohydrate form (MSN) was obtained from any hydrates, meaning that these grinding conditions favored the dehydration of superior hydrates. The grinding process carried out in the presence of liquid nitrogen (Method B) led to further hydration of the starting materials: new hydrate forms were identified as one pentahydrate form and one hexahydrate form. The hydration was caused by the condensation of the atmospheric water on sodium naproxen

Performance of high level waste forms and engineered barriers under repository conditions

International Nuclear Information System (INIS)

1991-02-01

The IAEA initiated in 1977 a co-ordinated research programme on the ''Evaluation of Solidified High-Level Waste Forms'' which was terminated in 1983. As there was a continuing need for international collaboration in research on solidified high-level waste form and spent fuel, the IAEA initiated a new programme in 1984. The new programme, besides including spent fuel and SYNROC, also placed greater emphasis on the effect of the engineered barriers of future repositories on the properties of the waste form. These engineered barriers included containers, overpacks, buffer and backfill materials etc. as components of the ''near-field'' of the repository. The Co-ordinated Research Programme on the Performance of High-Level Waste Forms and Engineered Barriers Under Repository Conditions had the objectives of promoting the exchange of information on the experience gained by different Member States in experimental performance data and technical model evaluation of solidified high level waste forms, components of the waste package and the complete waste management system under conditions relevant to final repository disposal. The programme includes studies on both irradiated spent fuel and glass and ceramic forms as the final solidified waste forms. The following topics were discussed: Leaching of vitrified high-level wastes, modelling of glass behaviour in clay, salt and granite repositories, environmental impacts of radionuclide release, synroc use for high--level waste solidification, leachate-rock interactions, spent fuel disposal in deep geologic repositories and radionuclide release mechanisms from various fuel types, radiolysis and selective leaching correlated with matrix alteration. Refs, figs and tabs

Growth Process of Passive Films Formed on Austenitic Stainless Steels under Atmospheric Environments

Energy Technology Data Exchange (ETDEWEB)

Jung, Rock-Hoon [Samsung Heavy Industries Co.,Ltd, Seoul (Korea, Republic of); Fujimoto, Shinji [Osaka University, Osaka (Japan)

2014-06-15

The excellent protection ability of stainless steel derives from the highly Cr enriched passive film which is formed as a result of selective dissolution of Fe into the bulk solution. On the other hand, the passive films formed under atmospheric conditions do not necessarily exhibit Cr enrichment, because the amount of the solution on a stainless steel as an adsorbed thin water layer is not sufficient for selective dissolution of Fe. Therefore, the modification of passive films may occur as tiny mass transfer between hydroxide layer and oxide layer of the passive films, and/or occasional replace of the adsorbed thin water layer. In the present work, in order to discuss atmospheric corrosion, passive films on stainless steels formed under humid atmospheric environments were characterized using X-ray photoelectron spectroscopy. Optimal conditions for the pulse anodizing were a duty ratio of 91%, a frequency of 0.09 Hz, and an anodizing time of 600 s. Pulse anodizing caused a remarkable decrease in the surface porosity (11-fold) and an increase in the film thickness (1.6-fold) from those obtained under a constant potential of 10 V{sub Ag/AgCl}. Furthermore, an Al-enriched oxide layer was formed on the outer surface of MgO.

Bacillus thuringiensis monogenic strains: screening and interactions with insecticides used against rice pests

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Pinto, Laura M.N.; Dörr, Natália C.; Ribeiro, Ana Paula A.; de Salles, Silvia M.; de Oliveira, Jaime V.; Menezes, Valmir G.; Fiuza, Lidia M.

2012-01-01

The screening of Bacillus thuringiensis (Bt) Cry proteins with high potential to control insect pests has been the goal of numerous research groups. In this study, we evaluated six monogenic Bt strains (Bt dendrolimus HD-37, Bt kurstaki HD-1, Bt kurstaki HD-73, Bt thuringiensis 4412, Bt kurstaki NRD-12 and Bt entomocidus 60.5, which codify the cry1Aa, cry1Ab, cry1Ac, cry1Ba, cry1C, cry2A genes respectively) as potential insecticides for the most important insect pests of irrigated rice: Spodoptera frugiperda, Diatraea saccharalis, Oryzophagus oryzae, Oebalus poecilus and Tibraca limbativentris. We also analyzed their compatibility with chemical insecticides (thiamethoxam, labdacyhalothrin, malathion and fipronil), which are extensively used in rice crops. The bioassay results showed that Bt thuringiensis 4412 and Bt entomocidus 60.5 were the most toxic for the lepidopterans, with a 93% and 82% mortality rate for S. frugiperda and D. saccharalis, respectively. For O. oryzae, the Bt kurstaki NRD-12 (64%) and Bt dendrolimus HD-37 (62%) strains were the most toxic. The Bt dendrolimus HD-37 strain also caused high mortality (82%) to O. poecilus, however the strains assessed to T. limbativentris caused a maximum rate of 5%. The assays for the Bt strains interaction with insecticides revealed the compatibility of the six strains with the four insecticides tested. The results from this study showed the high potential of cry1Aa and cry1Ba genes for genetic engineering of rice plants or the strains to biopesticide formulations. PMID:24031872

U-Form vs. M-Form: How to Understand Decision Autonomy Under Healthcare Decentralization? Comment on "Decentralisation of Health Services in Fiji: A Decision Space Analysis".

Science.gov (United States)

Bustamante, Arturo Vargas

2016-06-07

For more than three decades healthcare decentralization has been promoted in developing countries as a way of improving the financing and delivery of public healthcare. Decision autonomy under healthcare decentralization would determine the role and scope of responsibility of local authorities. Jalal Mohammed, Nicola North, and Toni Ashton analyze decision autonomy within decentralized services in Fiji. They conclude that the narrow decision space allowed to local entities might have limited the benefits of decentralization on users and providers. To discuss the costs and benefits of healthcare decentralization this paper uses the U-form and M-form typology to further illustrate the role of decision autonomy under healthcare decentralization. This paper argues that when evaluating healthcare decentralization, it is important to determine whether the benefits from decentralization are greater than its costs. The U-form and M-form framework is proposed as a useful typology to evaluate different types of institutional arrangements under healthcare decentralization. Under this model, the more decentralized organizational form (M-form) is superior if the benefits from flexibility exceed the costs of duplication and the more centralized organizational form (U-form) is superior if the savings from economies of scale outweigh the costly decision-making process from the center to the regions. Budgetary and financial autonomy and effective mechanisms to maintain local governments accountable for their spending behavior are key decision autonomy variables that could sway the cost-benefit analysis of healthcare decentralization. © 2016 by Kerman University of Medical Sciences.

20 CFR 10.7 - What forms are needed to process claims under the FECA?

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false What forms are needed to process claims under the FECA? 10.7 Section 10.7 Employees' Benefits OFFICE OF WORKERS' COMPENSATION PROGRAMS, DEPARTMENT...' COMPENSATION ACT, AS AMENDED General Provisions Definitions and Forms § 10.7 What forms are needed to process...

Testing of high-level waste forms under repository conditions

International Nuclear Information System (INIS)

Mc Menamin, T.

1989-01-01

The workshop on testing of high-level waste forms under repository conditions was held on 17 to 21 October 1988 in Cadarache, France, and sponsored by the Commission of the European Communities (CEC), the Commissariat a l'energie atomique (CEA) and the Savannah River Laboratory (US DOE). Participants included representatives from Australia, Belgium, Denmark, France, Germany, Italy, Japan, the Netherlands, Sweden, Switzerland, The United Kingdom and the United States. The first part of the conference featured a workshop on in situ testing of simulated nuclear waste forms and proposed package components, with an emphasis on the materials interface interactions tests (MIIT). MIIT is a sevent-part programme that involves field testing of 15 glass and waste form systems supplied by seven countries, along with potential canister and overpack materials as well as geologic samples, in the salt geology at the Waste Isolation Pilot Plant (WIPP) in Carlsbad, New Mexico, USA. This effort is still in progress and these proceedings document studies and findings obtained thus far. The second part of the meeting emphasized multinational experimental studies and results derived from repository systems simulation tests (RSST), which were performed in granite, clay and salt environments

Inherited dystonias: clinical features and molecular pathways.

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Weisheit, Corinne E; Pappas, Samuel S; Dauer, William T

2018-01-01

Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia - a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations. Studies of genetic forms of dystonia are also illuminating the developmental dependence of disease symptoms that is typical of many forms of the disease. As understanding of monogenic forms of dystonia grows, a clearer picture will develop of the abnormal motor circuitry behind this relatively common phenomenology. This chapter focuses on the current data covering the etiology and epidemiology, clinical presentation, and pathogenesis of four monogenic forms of isolated dystonia: DYT-TOR1A, DYT-THAP1, DYT-GCH1, and DYT-GNAL. Copyright © 2018 Elsevier B.V. All rights reserved.

Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease.

Science.gov (United States)

Carrillo, Elena; Lomas, Amparo; Pinés, Pedro J; Lamas, Cristina

2017-01-01

Mutations in hepatocyte nuclear factor 1β gene ( HNF1B ) are responsible for a multisystemic syndrome where monogenic diabetes (classically known as MODY 5) and renal anomalies, mostly cysts, are the most characteristic findings. Urogenital malformations, altered liver function tests, hypomagnesemia or hyperuricemia and gout are also part of the syndrome. Diabetes in these patients usually requires early insulinization. We present the case of a young non-obese male patient with a personal history of renal multicystic dysplasia and a debut of diabetes during adolescence with simple hyperglycemia, negative pancreatic autoimmunity and detectable C-peptide levels. He also presented epididymal and seminal vesicle cysts, hypertransaminasemia, hyperuricemia and low magnesium levels. In the light of these facts we considered the possibility of a HNF1B mutation. The sequencing study of this gene confirmed a heterozygous mutation leading to a truncated and less functional protein. Genetic studies of his relatives were negative; consequently, it was classified as a de novo mutation. In particular, our patient maintained good control of his diabetes on oral antidiabetic agents for a long period of time. He eventually needed insulinization although oral therapy was continued alongside, allowing reduction of prandial insulin requirements. The real prevalence of mutations in HNF1B is probably underestimated owing to a wide phenotypical variability. As endocrinologists, we should consider this possibility in young non-obese diabetic patients with a history of chronic non-diabetic nephropathy, especially in the presence of some of the other characteristic manifestations. HNF1B mutations are a rare cause of monogenic diabetes, often being a part of a multisystemic syndrome.The combination of young-onset diabetes and genitourinary anomalies with slowly progressive nephropathy of non-diabetic origin in non-obese subjects should rise the suspicion of such occurrence. A family history

U-Form vs. M-Form: How to Understand Decision Autonomy Under Healthcare Decentralization?; Comment on “Decentralisation of Health Services in Fiji: A Decision Space Analysis”

Directory of Open Access Journals (Sweden)

Arturo Vargas Bustamante

2016-09-01

Full Text Available For more than three decades healthcare decentralization has been promoted in developing countries as a way of improving the financing and delivery of public healthcare. Decision autonomy under healthcare decentralization would determine the role and scope of responsibility of local authorities. Jalal Mohammed, Nicola North, and Toni Ashton analyze decision autonomy within decentralized services in Fiji. They conclude that the narrow decision space allowed to local entities might have limited the benefits of decentralization on users and providers. To discuss the costs and benefits of healthcare decentralization this paper uses the U-form and M-form typology to further illustrate the role of decision autonomy under healthcare decentralization. This paper argues that when evaluating healthcare decentralization, it is important to determine whether the benefits from decentralization are greater than its costs. The U-form and M-form framework is proposed as a useful typology to evaluate different types of institutional arrangements under healthcare decentralization. Under this model, the more decentralized organizational form (M-form is superior if the benefits from flexibility exceed the costs of duplication and the more centralized organizational form (U-form is superior if the savings from economies of scale outweigh the costly decision-making process from the center to the regions. Budgetary and financial autonomy and effective mechanisms to maintain local governments accountable for their spending behavior are key decision autonomy variables that could sway the cost-benefit analysis of healthcare decentralization.

Nitroxyl free radicals formed from hindered amine light stabilizers under 60Co γ-ray irradiation

International Nuclear Information System (INIS)

Wang Huiliang; Chen Wenxiu

2006-01-01

Nitroxyl free radicals formed from several low molecular weight (LMW) hindered amine light stabilizers (HALS) under 60 Co γ-ray irradiation was studied with electron spin resonance (ESR) spectroscopy. All the HALSs irradiated in air formed nitroxyl free radicals under irradiation in air. For most of the HALSs, concentration of the nitroxyl free radicals increased linearly and quickly with absorbed dose in 0-10 kGy range, but increased slowly, or even kept constant, with doses of greater than 10 kGy. Concentration of nitroxyl free radicals formed from LMW HALS was usually higher than high molecular weight HALS. Tetramethyl HALS was easier to form nitroxyl free radicals than pentamethyl HLAS. Concentration of nitroxyl free radicals formed from the samples irradiated in oxygen was about two times higher than that the samples irradiated in air. Mechanisms of the nitroxyl free radical formation from the γ-ray irradiated HALSs were was discussed. (authors)

Supercooled dynamics of glass-forming liquids and polymers under hydrostatic pressure

Energy Technology Data Exchange (ETDEWEB)

Roland, C M [Naval Research Laboratory, Chemistry Division, Code 6120, Washington, DC 20375-5342 (United States); Hensel-Bielowka, S [Institute of Physics, Silesian University, ul. Uniwersytecka 4, 40-007 Katowice (Poland); Paluch, M [Institute of Physics, Silesian University, ul. Uniwersytecka 4, 40-007 Katowice (Poland); Casalini, R [Naval Research Laboratory, Chemistry Division, Code 6120, Washington, DC 20375-5342 (United States); Chemistry Department, George Mason University, Fairfax, VA 22030 (United States)

2005-06-01

An intriguing problem in condensed matter physics is understanding the glass transition, in particular the dynamics in the equilibrium liquid close to vitrification. Recent advances have been made by using hydrostatic pressure as an experimental variable. These results are reviewed, with an emphasis in the insight provided into the mechanisms underlying the relaxation properties of glass-forming liquids and polymers.

Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign.

Science.gov (United States)

Fendler, W; Borowiec, M; Baranowska-Jazwiecka, A; Szadkowska, A; Skala-Zamorowska, E; Deja, G; Jarosz-Chobot, P; Techmanska, I; Bautembach-Minkowska, J; Mysliwiec, M; Zmyslowska, A; Pietrzak, I; Malecki, M T; Mlynarski, W

2012-10-01

The aim of this study was to study dynamic changes in the prevalence of different types of diabetes in paediatric populations in Poland, with a specific focus on monogenic diabetes (MD). Using epidemiologic data (PolPeDiab Collaboration) and nationwide genetic test results (TEAM Programme), we compared the prevalence of type 1, type 2 and cystic fibrosis-related diabetes (CFRD) and MD. Genetically confirmed MD included MODY, neonatal diabetes and Wolfram and Alström syndromes. The study covered all children aged 0-18 years treated for diabetes between 2005 and 2011 in three regions, inhabited by 23.7% (1,989,988) of Polish children, with a low prevalence of childhood obesity (type 1 diabetes showed a continuous increase, from 96 to 138/100,000 children. The prevalence of type 2 diabetes and CFRD also increased, from 0.3 to 1.01/100,000 children and from 0.1 to 0.95/100,000 children, respectively. The prevalence of MD was stable at between 4.2 and 4.6/100,000 children, accounting for 3.1-4.2% of children with diabetes, with glucokinase (GCK)-MODY being the most frequent type, amounting to 83% of patients with MD. The percentage of positive test results decreased with the number of referrals, suggesting that children with the highest probability of MD were referred initially, followed by those with a less clear-cut phenotype. The prevalence of neonatal diabetes equalled 1 in 300,000 children. The prevalence of MD in a paediatric population with a low prevalence of obesity remains stable and is nearly fivefold higher than that of type 2 diabetes and CFRD, justifying a need for increased access to genetic diagnostic procedures in diabetic children.

Efeito do cloreto de sódio sobre as respostas fisiológicas e controle de helmintos monogenóides em tambaqui (Colossoma macropomum Effect of sodium chloride on physiological responses and monogenean control in tambaqui (Colossoma macropomum

Directory of Open Access Journals (Sweden)

Edsandra Campos Chagas

2012-09-01

Full Text Available O objetivo deste trabalho foi avaliar o efeito do sal (NaCl sobre as respostas fisiológicas e controle de helmintos monogenóides em tambaqui (Colossoma macropomum. Para isso, juvenis de tambaqui (42,38 ± 0,47 g; 13,90 ± 0,06 cm foram transferidos para tanques de 350L e aclimatados por um período de 24 horas. Os ensaios foram conduzidos utilizando as concentrações de 0, 2, 4, 6 e 8 g de sal comum L-1 de água, nos tempos de exposição de 30, 60 e 120 minutos, com três repetições por tratamento. A tolerância dos tambaquis ao sal e a eficácia deste sobre os helmintos monogenóides foi avaliada mediante análise dos indicadores fisiológicos (glicose, cloretos, sódio e potássio plasmático e parasitológicos (número total de parasitas e prevalência. Tambaquis expostos a 4 g NaCl L-1 por 120 minutos, 6 e 8 g NaCl L-1 por 60 e 120 minutos apresentaram maior elevação da glicose plasmática e na concentração de 8 g NaCl L-1 por 120 minutos maiores níveis de cloreto plasmático. A prevalência de monogenóides nas brânquias foi de 100% e todas as concentrações de sal avaliadas neste estudo não foram eficazes na redução dos helmintos monogenóides em tambaqui.The objective of this work was to evaluate the effect of salt (NaCl on physiological responses and monogenean control in tambaqui (Colossoma macropomum. Juveniles of tambaqui (42.38 ± 0.47 g; 13.90 ± 0.06 cm were transferred to 350L tanks and acclimated for a period of 24 hours. The assays were conducted using the concentrations of 0, 2, 4, 6 and 8 g of NaCl L-1 of water, exposed to 30, 60 and 120 minutes, with three replicates in each treatment. The tambaqui tolerance to salt and the efficacy against monogenean were evaluated by physiological analysis (glucose, chloride, sodium and potassium plasmatic concentrations and parasitic indices (total number of parasites and prevalence. Tambaquis exposed to 4 g NaCl L-1 for 120 minutes, 6 and 8 g NaCl L-1 for 60 and 120

Forgeability test of extruded Mg–Sn–Al–Zn alloys under warm forming conditions

International Nuclear Information System (INIS)

Yoon, Jonghun; Park, Sunghyuk

2014-01-01

Highlights: • We compared forgeability of new developed TAZ alloys with conventional AZ alloys. • Forgeability was evaluated with a T-shape forging under hot forming condition. • TAZ alloys show the best performance in forgeability under hot forging condition. • Microstructures of the forged part were investigated with EBSD experiments. • YS and UTS of forged part with TAZ alloy are enhanced compared with AZ alloy. - Abstract: Magnesium (Mg) alloys have been thoroughly researched to replace steel or aluminum parts in automotives for reducing weight without sacrificing their strength. The widespread use of Mg alloys has been limited by its insufficient formability, which results from a lack of active slip systems at room temperature. It leads to a hot forming process for Mg alloys to enhance the formability and plastic workability. In addition, forged or formed parts of Mg alloys should have the reliable initial yield and ultimate tensile strength after hot working processes since its material properties should be compatible with other parts thereby guaranteeing structural safety against external load and crash. In this research, an optimal warm forming condition for applying extruded Mg–Sn–Al–Zn (TAZ) Mg alloys into automotive parts is proposed based on T-shape forging tests and the feasibility of forged parts is evaluated by measuring the initial yield strength and investigating the grain size in orientation imaging microscopy (OIM) maps

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

Science.gov (United States)

Astuti, Dewi; Sabir, Ataf; Fulton, Piers; Zatyka, Malgorzata; Williams, Denise; Hardy, Carol; Milan, Gabriella; Favaretto, Francesca; Yu‐Wai‐Man, Patrick; Rohayem, Julia; López de Heredia, Miguel; Hershey, Tamara; Tranebjaerg, Lisbeth; Chen, Jian‐Hua; Chaussenot, Annabel; Nunes, Virginia; Marshall, Bess; McAfferty, Susan; Tillmann, Vallo; Maffei, Pietro; Paquis‐Flucklinger, Veronique; Geberhiwot, Tarekign; Mlynarski, Wojciech; Parkinson, Kay; Picard, Virginie; Bueno, Gema Esteban; Dias, Renuka; Arnold, Amy; Richens, Caitlin; Paisey, Richard; Urano, Fumihiko; Semple, Robert; Sinnott, Richard

2017-01-01

Abstract We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease‐associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine‐responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1. We then investigated genotype–phenotype relations for the WFS1 gene. The presence of biallelic loss‐of‐function variants predicted Wolfram syndrome defined by insulin‐dependent diabetes and optic atrophy, with a sensitivity of 79% (95% CI 75%–83%) and specificity of 92% (83%–97%). The presence of minor loss‐of‐function variants in WFS1 predicted isolated diabetes, isolated deafness, or isolated congenital cataracts without development of the full syndrome (sensitivity 100% [93%–100%]; specificity 78% [73%–82%]). The ability to provide a prognostic prediction based on genotype will lead to improvements in patient care and counseling. The development of the database as a repository for monogenic diabetes gene variants will allow prognostic predictions for other diabetes syndromes as next‐generation sequencing expands the repertoire of genotypes and phenotypes. The database is publicly available online at https://lovd.euro-wabb.org. PMID:28432734

Feature Size Effect on Formability of Multilayer Metal Composite Sheets under Microscale Laser Flexible Forming

Directory of Open Access Journals (Sweden)

Huixia Liu

2017-07-01

Full Text Available Multilayer metal composite sheets possess superior properties to monolithic metal sheets, and formability is different from monolithic metal sheets. In this research, the feature size effect on formability of multilayer metal composite sheets under microscale laser flexible forming was studied by experiment. Two-layer copper/nickel composite sheets were selected as experimental materials. Five types of micro molds with different diameters were utilized. The formability of materials was evaluated by forming depth, thickness thinning, surface quality, and micro-hardness distribution. The research results showed that the formability of two-layer copper/nickel composite sheets was strongly influenced by feature size. With feature size increasing, the effect of layer stacking sequence on forming depth, thickness thinning ratio, and surface roughness became increasingly larger. However, the normalized forming depth, thickness thinning ratio, surface roughness, and micro-hardness of the formed components under the same layer stacking sequence first increased and then decreased with increasing feature size. The deformation behavior of copper/nickel composite sheets was determined by the external layer. The deformation extent was larger when the copper layer was set as the external layer.

Investigation of activity release from bituminized intermediate-level waste forms under thermal stresses

International Nuclear Information System (INIS)

Kluger, W.; Vejmelka, P.; Koester, R.

1983-01-01

To determine the consequences of a fire during fabrication, intermediate storage and transport of bituminized NaNO 3 waste forms, the fractions of plutonium released from the waste forms were assessed. For this purpose, laboratory tests were made with PuO 2 -containing specimens as well as a field test with specimens containing Eu 2 O 3 . By the evaluation of plutonium release in the laboratory and by the determination of the total sodium release and the relative Eu/Na release in the field tests the plutonium release can be deduced from full-scale specimens. The results show that for bituminized waste forms with high NaNO 3 contents (approx. 36 wt%) the average plutonium release obtained in laboratory testing is 15%. In the field tests (IAEA fire test conditions) an average Eu release of 8% was found. These results justify the statement that also for waste forms in open 175 L drum inserts a maximum plutonium release of about 15% can be expected. From the time-dependence of Eu/Na release in the field tests an induction period of 15-20 minutes between the start of testing and the first Na/Eu release can be derived. The maximum differential Na/Eu release occurs after a test period of 45 to 60 minutes duration and after 90 to 105 minutes (tests K2 and K4, respectively); after that time also the highest temperatures in the products are measured. The release values were determined for products in open 175 L drum inserts which in this form are not eligible for intermediate and ultimate storage. For bituminized waste forms in concrete packages (lost concrete shieldings) a delayed increase in temperature to only 70-80 deg. C takes place (4-5 hours after extinction of the fire) if the fire lasts 45 minutes. The concrete package remains intact under test conditions. This means that activity release from bituminized waste forms packaged in this way can be ruled out in the case under consideration. (author)

Radiation-induced polymerization of glass-forming systems. VII. Polymerization in supercooled state under high pressure

International Nuclear Information System (INIS)

Kaetsu, I.; Yoshii, F.; Watanabe, Y.

1978-01-01

Radiation-induced polymerization of glass-forming monomers such as 2-hydroxyethyl methacrylate and glycidyl methacrylate under high pressure was studied. The glass transition temperature of these monomers was heightened by increased pressure. The temperature dependence of polymerizability showed a characteristic relation, similar to those in supercooled-phase polymerization under normal pressure, that had a maximum at T/sub ν/ which shifted to higher levels of temperature as well as to T/sub g/ under high pressure. Polymerizability in the supercooled state also increased under increased pressure

The longest faun tail forming dreadlocks with underlying spina bifida occulta.

Science.gov (United States)

Brar, Balvinder Kaur; Mahajan, Bharat Bhushan; Mittal, Jyotisterna

2013-04-15

Spina bifida is a developmental anomaly characterized by defective closure of the bony encasement of the spinal cord through which the spinal cord and meninges may or may not protrude. We report a rare case of a very long faun tail, which was in the form of a 20 inch long tail originating from the lumbosacral area in a rhomboidal pattern, measuring 10 x 8 inches. The case is being reported for its rare presentation of a 20 inch long faun tail with underlying spina bifida occulta.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Science.gov (United States)

Astuti, Dewi; Sabir, Ataf; Fulton, Piers; Zatyka, Malgorzata; Williams, Denise; Hardy, Carol; Milan, Gabriella; Favaretto, Francesca; Yu-Wai-Man, Patrick; Rohayem, Julia; López de Heredia, Miguel; Hershey, Tamara; Tranebjaerg, Lisbeth; Chen, Jian-Hua; Chaussenot, Annabel; Nunes, Virginia; Marshall, Bess; McAfferty, Susan; Tillmann, Vallo; Maffei, Pietro; Paquis-Flucklinger, Veronique; Geberhiwot, Tarekign; Mlynarski, Wojciech; Parkinson, Kay; Picard, Virginie; Bueno, Gema Esteban; Dias, Renuka; Arnold, Amy; Richens, Caitlin; Paisey, Richard; Urano, Fumihiko; Semple, Robert; Sinnott, Richard; Barrett, Timothy G

2017-07-01

We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1. We then investigated genotype-phenotype relations for the WFS1 gene. The presence of biallelic loss-of-function variants predicted Wolfram syndrome defined by insulin-dependent diabetes and optic atrophy, with a sensitivity of 79% (95% CI 75%-83%) and specificity of 92% (83%-97%). The presence of minor loss-of-function variants in WFS1 predicted isolated diabetes, isolated deafness, or isolated congenital cataracts without development of the full syndrome (sensitivity 100% [93%-100%]; specificity 78% [73%-82%]). The ability to provide a prognostic prediction based on genotype will lead to improvements in patient care and counseling. The development of the database as a repository for monogenic diabetes gene variants will allow prognostic predictions for other diabetes syndromes as next-generation sequencing expands the repertoire of genotypes and phenotypes. The database is publicly available online at https://lovd.euro-wabb.org. © 2017 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

17 CFR 259.5s - Form U5S, for annual reports filed under section 5(c) of the Act.

Science.gov (United States)

2010-04-01

... 17 Commodity and Securities Exchanges 3 2010-04-01 2010-04-01 false Form U5S, for annual reports filed under section 5(c) of the Act. 259.5s Section 259.5s Commodity and Securities Exchanges SECURITIES... 1935 Forms for Registration and Annual Supplements § 259.5s Form U5S, for annual reports filed under...

Characterization of degradation products of amorphous and polymorphic forms of clopidogrel bisulphate under solid state stress conditions

DEFF Research Database (Denmark)

Raijada, Dhara K; Prasad, Bhagwat; Paudel, Amrit

2010-01-01

The present study deals with the stress degradation studies on amorphous and polymorphic forms of clopidogrel bisulphate. The objective was to characterize the degradation products and postulate mechanism of decomposition of the drug under solid state stress conditions. For that, amorphous form, ...

Obesity in Childhood and Adolescence, Genetic Factors.

Science.gov (United States)

Kostovski, Marko; Tasic, Velibor; Laban, Nevena; Polenakovic, Momir; Danilovski, Dragan; Gucev, Zoran

2017-12-01

Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Childhood obesity is also widespread in Macedonia. Metabolic syndrome, dyslipidemia and carbohydrate intolerance are found in significant numbers. Parents and grandparents are often obese. Some of the children are either dysmorphic, or slightly retarded. We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome. A genetic screening for mutations in monogenic obesity in children with early, rapid-onset or severe obesity, severe hyperphagia, hypogonadism, intestinal dysfunction, hypopigmentation of hair and skin, postprandial hypoglycaemia, diabetes insipidus, abnormal leptin level and coexistence of lean and obese siblings in the family discovers many genetic forms of obesity. There are about 30 monogenic forms of obesity. In addition, obesity is different in ethnic groups, and the types of monogenic obesity differ. In brief, an increasing number of genes and genetic mechanisms in children continue to be discovered. This sheds new light on the molecular mechanisms of obesity and potentially gives a target for new forms of treatment.

76 FR 55730 - Reports, Forms and Recordkeeping Requirements; Agency Information Collection Activity Under OMB...

Science.gov (United States)

2011-09-08

... foreign commerce and desire ``tax'' benefits under the Construction Reserve Fund (CRF) program, are required to submit to MARAD an application for benefits. The annual statement provided to MARAD officials... the U.S. domestic or foreign commerce. Forms: None. Abstract: In accordance with Section 511 of the...

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.

Science.gov (United States)

Torsvik, Janniche; Johansson, Stefan; Johansen, Anders; Ek, Jakob; Minton, Jayne; Raeder, Helge; Ellard, Sian; Hattersley, Andrew; Pedersen, Oluf; Hansen, Torben; Molven, Anders; Njølstad, Pål R

2010-01-01

We have previously shown that heterozygous single-base deletions in the carboxyl-ester lipase (CEL) gene cause exocrine and endocrine pancreatic dysfunction in two multigenerational families. These deletions were found in the first and fourth repeats of a variable number of tandem repeats (VNTR), which has proven challenging to sequence due to high GC-content and considerable length variation. We have therefore developed a screening method consisting of a multiplex PCR followed by fragment analysis. The method detected putative disease-causing insertions and deletions in the proximal repeats of the VNTR, and determined the VNTR-length of each allele. When blindly testing 56 members of the two families with known single-base deletions in the CEL VNTR, the method correctly assessed the mutation carriers. Screening of 241 probands from suspected maturity-onset diabetes of the young (MODY) families negative for mutations in known MODY genes (95 individuals from Denmark and 146 individuals from UK) revealed no deletions in the proximal repeats of the CEL VNTR. However, we found one Danish patient with a short, novel CEL allele containing only three VNTR repeats (normal range 7-23 in healthy controls). This allele co-segregated with diabetes or impaired glucose tolerance in the patient's family as six of seven mutation carriers were affected. We also identified individuals who had three copies of a complete CEL VNTR. In conclusion, the CEL gene is highly polymorphic, but mutations in CEL are likely to be a rare cause of monogenic diabetes.

78 FR 73237 - Reports, Forms and Record Keeping Requirements Agency Information Collection Activity Under OMB...

Science.gov (United States)

2013-12-05

...-0088] Reports, Forms and Record Keeping Requirements Agency Information Collection Activity Under OMB... entities over which the agency exercises regulatory authority. Recent trends lead the agency to estimate.... Requesters are not required to keep copies of any records or reports [[Page 73238

Maturity onset diabetes of the young: Diagnosis and treatment options

Directory of Open Access Journals (Sweden)

Serghei Covanțev

2016-12-01

Full Text Available Diabetes is a complicated disease, so multiple factors are involved in its development. Nevertheless some of the patients with type 1 and 2 diabetes mellitus have a monogenic form of this disease which has different treatment options and usually fewer complications. It is estimated that about 5% of patients with type 2 diabetes melitus (T2DM and about 10% of type 1 diabetes melitus (T1DM are misdiagnosed and have maturity onset diabetes of the young (MODY. We present a review study of the management of most frequent monogenic forms of diabetes such as MODY 1, 2 and 3 and the possibilities of their diagnosis including in resource limited situations.

Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.

Science.gov (United States)

Borowiec, M; Fendler, W; Antosik, K; Baranowska, A; Gnys, P; Zmyslowska, A; Malecki, M; Mlynarski, W

2012-12-01

In order to improve recruitment efficiency of patients with monogenic diabetes in Poland, in September 2010 a nationwide advertising campaign was launched to inform multiple target groups interested or participating in pediatric diabetologic care. Promotional actions aimed at informing physicians, patients, parents and educators were carried out through nationwide newspapers, medical and patient-developed websites and educational conference presentations. Recruitment efficiency was compared between September 2010 (publication of the first report on project's results) and the following 12 months. The number of families and patients referred to genetic screening was increased by 92% and 96% respectively nearly reaching the numbers recruited throughout the initial 4 years of the project. Participation of non-academic centers was also significantly increased from 2.3% to 7.5% (p = 0.0005). DNA sequencing and Multiplex Ligation-dependant Probe Amplification of the glucokinase gene resulted in finding 50 different mutations. Among those mutations, 19 were novel variants, which included: 17 missense mutations (predicted to be pathogenic according to bioinformatic analysis), 1 nonsense mutation and 1 mutation affecting a consensus intronic splice site. Advertising actions directed at increasing recruitment efficiency are a powerful and possibly neglected tool in screening for rare genetic disorders with a clinically defined phenotype. © 2011 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

Structural analysis of surface film on alloy 600 formed under environment of PWR primary water

Energy Technology Data Exchange (ETDEWEB)

Terachi, Takumi; Totsuka, Nobuo; Yamada, Takuyo; Nakagawa, Tomokazu [Inst. of Nuclear Safety System Inc., Mihama, Fukui (Japan); Deguchi, Hiroshi [Kansai Electric Power Co., Inc., Osaka (Japan); Horiuchi, Masaki; Oshitani, Masato [Kanden Kako Co., Ltd., Osaka (Japan)

2002-09-01

It has been shown by one of the present authors and so forth that PWSCC of alloy 600 relates to dissolved hydrogen concentration (DH) in water and oxide film structure. However, the mechanism of PWSCC has not been clear yet. Therefore, in order to investigate relationship between them, structural analysis of the oxide film formed under the environment of PWR primary water was carried out by using X-ray diffraction, the scanning electron microscope and the transmission electron microscope. Especially, to perform accurate analysis, the synchrotron orbital radiation with SPring-8 was tried to use for thin film X-ray diffraction measurement. From the results, observed are as follows: 1. the oxide film is mainly composed of NiO, under the condition without hydrogen. 2. In the environment of DH 2.75ppm, the oxide film forms thin spinel structures. 3. On the other hand, needlelike oxides are formed at DH 1ppm. For this reason, around 1ppm of DH there would be the boundary that stable NiO and spinel oxide generate, and it agrees with the peak range of the PWSCC susceptibility on hydrogen. From this, it is suggested that the boundary of NiO/spinel oxide affects the SCC susceptibility. (author)

Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome

International Nuclear Information System (INIS)

Al-Attar, Salam A; Pollex, Rebecca L; Robinson, John F; Miskie, Brooke A; Walcarius, Rhonda; Rutt, Brian K; Hegele, Robert A

2006-01-01

With the growing prevalence of obesity and metabolic syndrome, reliable quantitative imaging methods for adipose tissue are required. Monogenic forms of the metabolic syndrome include Dunnigan-variety familial partial lipodystrophy subtypes 2 and 3 (FPLD2 and FPLD3), which are characterized by the loss of subcutaneous fat in the extremities. Through magnetic resonance imaging (MRI) of FPLD patients, we have developed a method of quantifying the core FPLD anthropometric phenotype, namely adipose tissue in the mid-calf and mid-thigh regions. Four female subjects, including an FPLD2 subject (LMNA R482Q), an FPLD3 subject (PPARG F388L), and two control subjects were selected for MRI and analysis. MRI scans of subjects were performed on a 1.5T GE MR Medical system, with 17 transaxial slices comprising a 51 mm section obtained in both the mid-calf and mid-thigh regions. Using ImageJ 1.34 n software, analysis of raw MR images involved the creation of a connectedness map of the subcutaneous adipose tissue contours within the lower limb segment from a user-defined seed point. Quantification of the adipose tissue was then obtained after thresholding the connected map and counting the voxels (volumetric pixels) present within the specified region. MR images revealed significant differences in the amounts of subcutaneous adipose tissue in lower limb segments of FPLD3 and FPLD2 subjects: respectively, mid-calf, 15.5% and 0%, and mid-thigh, 25.0% and 13.3%. In comparison, old and young healthy controls had values, respectively, of mid-calf, 32.5% and 26.2%, and mid-thigh, 52.2% and 36.1%. The FPLD2 patient had significantly reduced subcutaneous adipose tissue compared to FPLD3 patient. Thus, semi-automated quantification of adipose tissue of the lower extremity can detect differences between individuals of various lipodystrophy genotypes and represents a potentially useful tool for extended quantitative phenotypic analysis of other genetic metabolic disorders

Mechanical properties of novel forms of graphyne under strain: A density functional theory study

Science.gov (United States)

Majidi, Roya

2017-06-01

The mechanical properties of two forms of graphyne sheets named α-graphyne and α2-graphyne under uniaxial and biaxial strains were studied. In-plane stiffness, bulk modulus, and shear modulus were calculated based on density functional theory. The in-plane stiffness, bulk modulus, and shear modulus of α2-graphyne were found to be larger than that of α-graphyne. The maximum values of supported uniaxial and biaxial strains before failure were determined. The α-graphyne was entered into the plastic region with the higher magnitude of tension in comparison to α2-graphyne. The mechanical properties of α-graphyne family revealed that these forms of graphyne are proper materials for use in nanomechanical applications.

Differences in functional traits between invasive and native Amaranthus species under different forms of N deposition

Science.gov (United States)

Wang, Congyan; Zhou, Jiawei; Liu, Jun; Jiang, Kun

2017-08-01

Differences in functional traits between invasive and native plant species are believed to determine the invasion success of the former. Increasing amounts of anthropogenic nitrogen (N) are continually deposited into natural ecosystems, which may change the relative occurrence of the different N deposition forms (such as NH4-N, NO3-N, and CO(NH2)2-N) naturally deposited. Under high N deposition scenarios, some invasive species may grow faster, gaining advantage over native species. In a greenhouse experiment, we grew invasive and native Amaranthus species from seed both alone and in competition under simulated N enriched environments with different forms of N over 3 months. Then, we measured different leaf traits (i.e., plant height, leaf length, leaf width, leaf shape index, specific leaf area (SLA), and leaf chlorophyll and N concentrations). Results showed that the competition intensity between A. retroflexus and A. tricolor decreased under N deposition. This may be due to the large functional divergence between A. retroflexus and A. tricolor under simulated N deposition. Phenotypic plasticity of SLA and leaf chlorophyll concentration of A. retroflexus were significantly lower than in A. tricolor. The lower range of phenotypic plasticity of SLA and leaf chlorophyll concentration of A. retroflexus may indicate a fitness cost for plastic functional traits under adverse environments. The restricted phenotypic plasticity of SLA and leaf chlorophyll concentration of A. retroflexus may also stabilize leaf construction costs and the growth rate. Meanwhile, the two Amaranthus species possessed greater plasticity in leaf N concentration under NO3-N fertilization, which enhanced their competitiveness.

Materials interactions test methods to measure radionuclide release from waste forms under repository-relevant conditions

International Nuclear Information System (INIS)

Strickert, R.G.; Erikson, R.L.; Shade, J.W.

1984-10-01

At the request of the Basalt Waste Isolation Project, the Materials Characterization Center has collected and developed a set of procedures into a waste form compliance test method (MCC-14.4). The purpose of the test is to measure the steady-state concentrations of specified radionuclides in solutions contacting a waste form material. The test method uses a crushed waste form and basalt material suspended in a synthetic basalt groundwater and agitated for up to three months at 150 0 C under anoxic conditions. Elemental and radioisotopic analyses are made on filtered and unfiltered aliquots of the solution. Replicate experiments are performed and simultaneous tests are conducted with an approved test material (ATM) to help ensure precise and reliable data for the actual waste form material. Various features of the test method, equipment, and test conditions are reviewed. Experimental testing using actinide-doped borosilicate glasses are also discussed. 9 references, 2 tables

17 CFR 274.5 - Form N-5, for registration statement of small business investment company under the Securities...

Science.gov (United States)

2010-04-01

... 17 Commodity and Securities Exchanges 3 2010-04-01 2010-04-01 false Form N-5, for registration statement of small business investment company under the Securities Act of 1933 and the Investment Company...-5, for registration statement of small business investment company under the Securities Act of 1933...

Induction of L-form-like cell shape change of Bacillus subtilis under microculture conditions.

Science.gov (United States)

Shingaki, Ryuji; Kasahara, Yasuhiro; Iwano, Megumi; Kuwano, Masayoshi; Takatsuka, Tomomasa; Inoue, Tetsuyoshi; Kokeguchi, Susumu; Fukui, Kazuhiro

2003-09-01

A remarkable cell shape change was observed in Bacillus subtilis strain 168 under microculture conditions on CI agar medium (Spizizen's minimal medium supplemented with a trace amount of yeast extract and Casamino acids). Cells cultured under a cover glass changed in form from rod-shaped to spherical, large and irregular shapes that closely resembled L-form cells. The cell shape change was observed only with CI medium, not with Spizizen's minimum medium alone or other rich media. The whole-cell protein profile of cells grown under cover glass and cells grown on CI agar plates differed in several respects. Tandem mass analysis of nine gel bands which differed in protein expression between the two conditions showed that proteins related to nitrate respiration and fermentation were expressed in the shape-changed cells grown under cover glass. The cell shape change of CI cultures was repressed when excess KNO3 was added to the medium. Whole-cell protein analysis of the normal rod-shaped cells grown with 0.1% KNO3 and the shape-changed cells grown without KNO3 revealed that the expression of the branched-chain alpha-keto acid dehydrogenase complex (coded by the bfmB gene locus) was elevated in the shape-changed cells. Inactivation of the bfmB locus resulted in the repression of cell shape change, and cells in which bfmB expression was induced by IPTG did show changes in shape. Transmission electron microscopy of ultrathin sections demonstrated that the shape-changed cells had thin walls, and plasmolysis of cells fixed with a solution including 0.1 M sucrose was observed. Clarifying the mechanism of thinning of the cell wall may lead to the development of a new type of cell wall biosynthetic inhibitor.

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2.

Science.gov (United States)

Butscheidt, S; Delsmann, A; Rolvien, T; Barvencik, F; Al-Bughaili, M; Mundlos, S; Schinke, T; Amling, M; Kornak, U; Oheim, R

2018-03-29

Pregnancy was found to be a skeletal risk factor promoting the initial onset of previously unrecognized monogenic bone disorders, thus explaining a proportion of cases with pregnancy-associated osteoporosis. Therapeutic measures should focus in particular on the normalization of the disturbed calcium homeostasis in order to enable the partial skeletal recovery. Pregnancy-associated osteoporosis (PAO) is a rare skeletal condition, which is characterized by a reduction in bone mineral density (BMD) in the course of pregnancy and lactation. Typical symptoms include vertebral compression fractures and transient osteoporosis of the hip. Since the etiology is not well understood, this prospective study was conducted in order to elucidate the relevance of pathogenic gene variants for the development of PAO. Seven consecutive cases with the diagnosis of PAO underwent a skeletal assessment (blood tests, DXA, HR-pQCT) and a comprehensive genetic analysis using a custom-designed gene panel. All cases showed a reduced BMD (DXA T-score, lumbar spine - 3.2 ± 1.0; left femur - 2.2 ± 0.5; right femur - 1.9 ± 0.5), while the spine was affected more severely (p Pregnancy should be considered a skeletal risk factor, which can promote the initial clinical onset of such skeletal disorders. The underlying increased calcium demand is essential in terms of prophylactic and therapeutic measures, which are especially required in individuals with a genetically determined low bone mass. The implementation of this knowledge in clinical practice can enable the partial recovery of the skeleton. Consistent genetic studies are needed to analyze the frequency of pathogenic variants in women with PAO.

Molecular diagnosis of maturity onset diabetes of the young in India

Directory of Open Access Journals (Sweden)

Veena V Nair

2013-01-01

Full Text Available Diabetes is highly prevalent in India and the proportion of younger patients developing diabetes is on the increase. Apart from the more universally known type 1 diabetes and obesity related type 2 diabetes, monogenic forms of diabetes are also suspected to be prevalent in many young diabetic patients. The identification of the genetic basis of the disease not only guides in therapeutic decision making, but also aids in genetic counselling and prognostication. Genetic testing may establish the occurrence and frequency of early diabetes in our population. This review attempts to explore the utilities and horizons of molecular genetics in the field of maturity onset diabetes of the young (MODY, which include the commoner forms of monogenic diabetes.

An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY).

Science.gov (United States)

Antosik, Karolina; Gnyś, Piotr; Jarosz-Chobot, Przemysława; Myśliwiec, Małgorzata; Szadkowska, Agnieszka; Małecki, Maciej; Młynarski, Wojciech; Borowiec, Maciej

2017-01-01

Monogenic diabetes is a rare disease caused by single gene mutations. Maturity onset diabetes of the young (MODY) is one of the major forms of monogenic diabetes recognised in the paediatric population. To date, 13 genes have been related to MODY development. The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (BAD) gene in patients with clinical suspicion of GCK-MODY, but who were negative for glucokinase (GCK) gene mutations. A group of 122 diabetic patients were recruited from the "Polish Registry for Paediatric and Adolescent Diabetes - nationwide genetic screening for monogenic diabetes" project. The molecular testing was performed by Sanger sequencing. A total of 10 sequence variants of the BAD gene were identified in 122 analysed diabetic patients. Among the analysed patients suspected of MODY, one possible pathogenic variant was identified in one patient; however, further confirmation is required for a certain identification.

Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c.

Science.gov (United States)

Rudland, Victoria L; Hinchcliffe, Marcus; Pinner, Jason; Cole, Stuart; Mercorella, Belinda; Molyneaux, Lynda; Constantino, Maria; Yue, Dennis K; Ross, Glynis P; Wong, Jencia

2016-01-01

Glucokinase monogenic diabetes (GCK-maturity-onset diabetes of the young [MODY]) should be differentiated from gestational diabetes mellitus (GDM) because management differs. New pregnancy-specific screening criteria (NSC) have been proposed to identify women who warrant GCK genetic testing. We tested NSC and HbA1c in a multiethnic GDM cohort and examined projected referrals for GCK testing. Using a GDM database, 63 of 776 women had a postpartum oral glucose tolerance test suggestive of GCK-MODY. Of these 63 women, 31 agreed to undergo GCK testing. NSC accuracy and HbA1c were examined. Projected referrals were calculated by applying the NSC to a larger GDM database (n = 4,415). Four of 31 women were confirmed as having GCK-MODY (prevalence ∼0.5-1/100 with GDM). The NSC identified all Anglo-Celtic women but did not identify one Indian woman. The NSC will refer 6.1% of GDM cases for GCK testing, with more Asian/Indian women referred despite lower disease prevalence. Antepartum HbA1c was not higher in those with GCK-MODY. The NSC performed well in Anglo-Celtic women. Ethnic-specific criteria should be explored. © 2016 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered.

Comparative miRNAs analysis of Two contrasting broccoli inbred lines with divergent head-forming capacity under temperature stress.

Science.gov (United States)

Chen, Chi-Chien; Fu, Shih-Feng; Norikazu, Monma; Yang, Yau-Wen; Liu, Yu-Ju; Ikeo, Kazuho; Gojobori, Takashi; Huang, Hao-Jen

2015-12-01

MicroRNAs (miRNAs) play a vital role in growth, development, and stress response at the post-transcriptional level. Broccoli (Brassica oleracea L. var italic) is an important vegetable crop, and the yield and quality of broccoli are decreased by heat stress. The broccoli inbred lines that are capable of producing head at high temperature in summer are unique varieties in Taiwan. However, knowledge of miRNAomes during the broccoli head formation under heat stress is limited. In this study, molecular characterization of two nearly isogenic lines with contrasting head-forming capacity was investigated. Head-forming capacity was better for heat-tolerant (HT) than heat-sensitive (HS) broccoli under heat stress. By deep sequencing and computational analysis, 20 known miRNAs showed significant differential expression between HT and HS genotypes. According to the criteria for annotation of new miRNAs, 24 novel miRNA sequences with differential expression between the two genotypes were identified. To gain insight into functional significance, 213 unique potential targets of these 44 differentially expressed miRNAs were predicted. These targets were implicated in shoot apical development, phase change, response to temperature stimulus, hormone and energy metabolism. The head-forming capacity of the unique HT line was related to autonomous regulation of Bo-FT genes and less expression level of heat shock protein genes as compared to HS. For the genotypic comparison, a set of miRNAs and their targets had consistent expression patterns in various HT genotypes. This large-scale characterization of broccoli miRNAs and their potential targets is to unravel the regulatory roles of miRNAs underlying heat-tolerant head-forming capacity.

The Job Dimensions Underlying the Job Elements of the Position Analysis Questionnaire (PAQ) (Form B).

Science.gov (United States)

The study was concerned with the identification of the job dimension underlying the job elements of the Position Analysis Questionnaire ( PAQ ), Form B...The PAQ is a structured job analysis instrument consisting of 187 worker-oriented job elements which are divided into six a priori major divisions...The statistical procedure of principal components analysis was used to identify the job dimensions of the PAQ . Forty-five job dimensions were

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

NARCIS (Netherlands)

Lemoine, Roxane; Pachlopnik-Schmid, Jana; Farin, Henner F; Bigorgne, Amélie; Debré, Marianne; Sepulveda, Fernando; Héritier, Sébastien; Lemale, Julie; Talbotec, Cécile; Rieux-Laucat, Frédéric; Ruemmele, Frank; Morali, Alain; Cathebras, Pascal; Nitschke, Patrick; Bole-Feysot, Christine; Blanche, Stéphane; Brousse, Nicole; Picard, Capucine; Clevers, Hans; Fischer, Alain; de Saint Basile, Geneviève

2014-01-01

BACKGROUND: Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases, but the underlying molecular mechanisms remain largely unknown. Studies of monogenic diseases can provide insight into the pathogenesis of IBD. OBJECTIVE: We thought to determine the underlying

17 CFR 239.500 - Form D, notice of sales of securities under Regulation D and section 4(6) of the Securities Act...

Science.gov (United States)

2010-04-01

... amount since the previously filed notice of sales on Form D, does not result in an increase of more than... 17 Commodity and Securities Exchanges 2 2010-04-01 2010-04-01 false Form D, notice of sales of... ACT OF 1933 Forms Pertaining to Exemptions § 239.500 Form D, notice of sales of securities under...

Dislocation-Disclination Substructures Formed in FCC Polycrystals Under Large Plastic Deformations: Evolution and Association with Flow Stress

Science.gov (United States)

Kozlov, É. V.; Koneva, N. A.; Trishkina, L. I.

2014-06-01

The evolution of dislocation substructures formed in polycrystalline Cu-Al and Cu-Mn alloys undergoing large plastic deformations is studied, using transmission electron microscopy. Microband and fragmented substructures are examined. The Al and Mn alloying element concentrations for which the substructures are formed have been found. The mechanisms involved in the formation of the substructures during the substructural evolution in the alloys subjected to deformation have been revealed. Parameters describing the substructures under study have been measured. The dependence of the parameters on the flow stress has been established.

17 CFR 239.40 - Form F-10, for registration under the Securities Act of 1933 of securities of certain Canadian...

Science.gov (United States)

2010-04-01

...) This Form may not be used for registration of derivative securities except: (1) Warrants, options and... 17 Commodity and Securities Exchanges 2 2010-04-01 2010-04-01 false Form F-10, for registration under the Securities Act of 1933 of securities of certain Canadian issuers. 239.40 Section 239.40...

Iron plaque formed under aerobic conditions efficiently immobilizes arsenic in Lupinus albus L roots.

Science.gov (United States)

Fresno, Teresa; Peñalosa, Jesús M; Santner, Jakob; Puschenreiter, Markus; Prohaska, Thomas; Moreno-Jiménez, Eduardo

2016-09-01

Arsenic is a non-threshold carcinogenic metalloid. Thus, human exposure should be minimised, e.g. by chemically stabilizing As in soil. Since iron is a potential As immobiliser, it was investigated whether root iron plaque, formed under aerobic conditions, affects As uptake, metabolism and distribution in Lupinus albus plants. White lupin plants were cultivated in a continuously aerated hydroponic culture containing Fe/EDDHA or FeSO4 and exposed to arsenate (5 or 20 μM). Only FeSO4 induced surficial iron plaque in roots. LA-ICP-MS analysis accomplished on root sections corroborated the association of As to this surficial Fe. Additionally, As(V) was the predominant species in FeSO4-treated roots, suggesting less efficient As uptake in the presence of iron plaque. Fe/EDDHA-exposed roots neither showed such surficial FeAs co-localisation nor As(V) accumulation; in contrast As(III) was the predominant species in root tissue. Furthermore, FeSO4-treated plants showed reduced shoot-to-root As ratios, which were >10-fold lower compared to Fe/EDDHA treatment. Our results highlight the role of an iron plaque formed in roots of white lupin under aerobic conditions on As immobilisation. These findings, to our knowledge, have not been addressed before for this plant and have potential implications on soil remediation (phytostabilisation) and food security (minimising As in crops). Copyright © 2016 Elsevier Ltd. All rights reserved.

Closed-form plastic collapse loads of pipe bends under combined pressure and in-plane bending

International Nuclear Information System (INIS)

Oh, Chang Sik; Kim, Yun Jae

2006-01-01

Based on three-dimensional (3-D) FE limit analyses, this paper provides plastic limit, collapse and instability load solutions for pipe bends under combined pressure and in-plane bending. The plastic limit loads are determined from FE limit analyses based on elastic-perfectly plastic materials using the small geometry change option, and the FE limit analyses using the large geometry change option provide plastic collapse loads (using the twice-elastic-slope method) and instability loads. For the bending mode, both closing bending and opening bending are considered, and a wide range of parameters related to the bend geometry is considered. Based on the FE results, closed-form approximations of plastic limit and collapse load solutions for pipe bends under combined pressure and bending are proposed

Effective Cross Section of Cold Formed Steel Column Under Axial Compression

Science.gov (United States)

Manikandan, P.; Pradeep, T.

2018-06-01

The compressive resistance of cold-formed steel (CFS) section may be governed by local, distortional or overall buckling and any apparent interaction between these modes. A new inventive stiffened CFS section is elected in this study, selected cross sections geometries and lengths are chosen such that all the types of buckling modes are met with. Buckling plot is plotted using linear elastic buckling analysis software (CUFSM). Using the test results obtained in the literature, the developed finite element model is calibrated and furthers a total of 126 parametric study is conducted such as a consequence of dimensions and the length of the cross section, thickness and yield stress. The FEA included relevant material and geometric imperfections. All the columns are analyzed under pin end conditions with axial compression. The analysis results demonstrate that the DSM equations generally assess the strength of stiffened section conservatively. Modifications to the DSM equations are recommended to evaluate the strength of stiffened section more precisely.

Effective Cross Section of Cold Formed Steel Column Under Axial Compression

Science.gov (United States)

Manikandan, P.; Pradeep, T.

2018-02-01

The compressive resistance of cold-formed steel (CFS) section may be governed by local, distortional or overall buckling and any apparent interaction between these modes. A new inventive stiffened CFS section is elected in this study, selected cross sections geometries and lengths are chosen such that all the types of buckling modes are met with. Buckling plot is plotted using linear elastic buckling analysis software (CUFSM). Using the test results obtained in the literature, the developed finite element model is calibrated and furthers a total of 126 parametric study is conducted such as a consequence of dimensions and the length of the cross section, thickness and yield stress. The FEA included relevant material and geometric imperfections. All the columns are analyzed under pin end conditions with axial compression. The analysis results demonstrate that the DSM equations generally assess the strength of stiffened section conservatively. Modifications to the DSM equations are recommended to evaluate the strength of stiffened section more precisely.

Characterizing haploinsufficiency of SHELL gene to improve fruit form prediction in introgressive hybrids of oil palm

OpenAIRE

Teh, Chee Keng; Muaz, Siti Dalila; Tangaya, Praveena; Fong, Po-Yee; Ong, Ai Ling; Mayes, Sean; Chew, Fook Tim; Kulaveerasingam, Harikrishna; Appleton, David Ross

2017-01-01

The fundamental trait in selective breeding of oil palm (Eleais guineensis Jacq.) is the shell thickness surrounding the kernel. The monogenic shell thickness is inversely correlated to mesocarp thickness, where the crude palm oil accumulates. Commercial thin-shelled tenera derived from thick-shelled dura???shell-less pisifera generally contain 30% higher oil per bunch. Two mutations, sh MPOB (M1) and sh AVROS (M2) in the SHELL gene ? a type II MADS-box transcription factor mainly present in ...

Soil P forms and P uptake under intensive plant growth in the greenhouse

International Nuclear Information System (INIS)

Henriquez, Carlos; Killorn, Randy

2005-01-01

The concentration of available soil (P) is a function of the equilibrium established among different soil P forms through numerous and different reactions in soil. The objective of this study was to examine the changes in P forms and P supply under exhaustive extraction conditions in soils from 3 different land use areas. In order to establish a greenhouse experiment, representative soil samples (0-20 cm) were taken from three fields located adjacent to one another, in a Typic Hapludands in Costa Rica. One field was a coffee plantation (Coffea arabica var Catuai), the second a sugar cane plantation (Saccarum spp. var 611721), and the third a secondary forest. Sorghum bicolor var Glazer 41) was planted in 1-liter pots and harvested 4 times consecutively. Treatments were no P and P application (100 mg kg -1 ) for each of the different land-use soil samples. Shoot and root dry matter and total P uptake were determined. Soil samples were taken before and after each of the 4 plant growth cycles and analyzed using a modified Hedley et al. (1982) soil P fractionation methodology. Labile-Pi, NaOH-Pi, HCI-Pi, extractable-Po, and residual -P were determined. Applied P increased labile-Pi, NaOH-Pi and HCI-Pi. Statistical changes were not observed in extractable organic P and residual-P due to P application. The NaOH-Pi and HCI-Pi seemed to act as a temporary pool of applied P. The possible participation of residual-P in replenishment of labile-P and NaOH-Pi was observed. The amount of plant P untake was closely related to the initial amount of labile-Pi and was higher in coffee than in forest and sugar cane soils. The labile-P was depleted by plant uptake. Rapid changes in reversibly available soil P forms (NaOH-Pi and HCI-Pi) were observed during the experiment. Our results suggest the occurrence of very rapid and dynamic changes between available and unavailable soil P forms in response to fertilizer application and plant uptake, supporting the idea of a continuum among the

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Directory of Open Access Journals (Sweden)

Julie Thompson Legault

2015-11-01

Full Text Available A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process. To gain insight into the systemic, biochemical consequences of respiratory chain dysfunction, we performed a case-control, prospective metabolic profiling study in a genetically homogenous cohort of patients with Leigh syndrome French Canadian variant, a mitochondrial respiratory chain disease due to loss-of-function mutations in LRPPRC. We discovered 45 plasma and urinary analytes discriminating patients from controls, including classic markers of mitochondrial metabolic dysfunction (lactate and acylcarnitines, as well as unexpected markers of cardiometabolic risk (insulin and adiponectin, amino acid catabolism linked to NADH status (α-hydroxybutyrate, and NAD+ biosynthesis (kynurenine and 3-hydroxyanthranilic acid. Our study identifies systemic, metabolic pathway derangements that can lie downstream of primary mitochondrial lesions, with implications for understanding how the organelle contributes to rare and common diseases.

76 FR 21946 - Proposed Collection; Comment Request for Form 990-BL; Schedule A (Form 990-BL), Form 6069

Science.gov (United States)

2011-04-19

... Initial Excise Tax Return for Black Lung Benefit Trusts and Certain Related Persons, and Form 6069, Return of Excise Tax on Excess Contributions to Black Lung Benefit Trust Under Section 4953 and Computation...: Form 990-BL, Schedule A (Form 990-BL), Information and Initial Excise Tax Return for Black Lung Benefit...

Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.

Science.gov (United States)

Srivastava, Siddharth; Sahin, Mustafa

2017-01-01

Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology. In this review, we compiled a database of genes associated with both epileptic encephalopathy and ASD, limiting our purview to Mendelian disorders not including inborn errors of metabolism, and we focused on the connection between ASD and epileptic encephalopathy rather than epilepsy broadly. Our review has four goals: to (1) discuss the overlapping presentations of ASD and monogenic epileptic encephalopathies; (2) examine the impact of the epilepsy itself on neurocognitive features, including ASD, in monogenic epileptic encephalopathies; (3) outline many of the genetic causes responsible for both ASD and epileptic encephalopathy; (4) provide an illustrative example of a final common pathway that may be implicated in both ASD and epileptic encephalopathy. We demonstrate that autistic features are a common association with monogenic epileptic encephalopathies. Certain epileptic encephalopathy syndromes, like infantile spasms, are especially linked to the development of ASD. The connection between seizures themselves and neurobehavioral deficits in these monogenic encephalopathies remains open to debate. Finally, advances in genetics have revealed many genes that overlap in ties to both ASD and epileptic encephalopathy and that play a role in diverse central nervous system processes. Increased attention to the autistic features of monogenic epileptic encephalopathies is warranted for

Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease

Directory of Open Access Journals (Sweden)

Elena Carrillo

2017-06-01

Full Text Available Mutations in hepatocyte nuclear factor 1β gene (HNF1B are responsible for a multisystemic syndrome where monogenic diabetes (classically known as MODY 5 and renal anomalies, mostly cysts, are the most characteristic findings. Urogenital malformations, altered liver function tests, hypomagnesemia or hyperuricemia and gout are also part of the syndrome. Diabetes in these patients usually requires early insulinization. We present the case of a young non-obese male patient with a personal history of renal multicystic dysplasia and a debut of diabetes during adolescence with simple hyperglycemia, negative pancreatic autoimmunity and detectable C-peptide levels. He also presented epididymal and seminal vesicle cysts, hypertransaminasemia, hyperuricemia and low magnesium levels. In the light of these facts we considered the possibility of a HNF1B mutation. The sequencing study of this gene confirmed a heterozygous mutation leading to a truncated and less functional protein. Genetic studies of his relatives were negative; consequently, it was classified as a de novo mutation. In particular, our patient maintained good control of his diabetes on oral antidiabetic agents for a long period of time. He eventually needed insulinization although oral therapy was continued alongside, allowing reduction of prandial insulin requirements. The real prevalence of mutations in HNF1B is probably underestimated owing to a wide phenotypical variability. As endocrinologists, we should consider this possibility in young non-obese diabetic patients with a history of chronic non-diabetic nephropathy, especially in the presence of some of the other characteristic manifestations.

Aetiology of hypospadias: a systematic review of genes and environment.

NARCIS (Netherlands)

Zanden, L.F.M. van der; Rooij, I.A.L.M. van; Feitz, W.F.J.; Franke, B.; Knoers, N.V.A.M.; Roeleveld, N.

2012-01-01

BACKGROUND: Hypospadias is a common congenital malformation of the male external genitalia. Most cases have an unknown aetiology, which is probably a mix of monogenic and multifactorial forms, implicating both genes and environmental factors. This review summarizes current knowledge about the

Effect of Bio char on Plant Growth and Aluminium Form of Soil under Aluminium Stress

Science.gov (United States)

Qian, Lianwen; Li, Qingbiao; Sun, Jingwei; Feng, Ying

2018-01-01

Aluminium-enriched acid red soils in South China easily cause aluminium toxicity to plants, but biochip can improve soils and eliminate soil contaminations. In this project, biochip was used in potted plant control test to study the effect of biochip on plant growth in soil under acid aluminium stress and the migration and conversion of aluminium in plant-soil system. The fin dings show that the application of biochip increases the pH value of soil under aluminium stress significantly, changes the existing form of aluminium ion in soil, reduces the plants’ absorption of aluminium, and alleviates the aluminium toxicity to plants, but too much biochip may inhibit the growth of plants. In this case, further study should be carried out as regards the volume and way of biochip input in practical applications as well as the timeliness of aluminium toxicity removal.

7 CFR 1980.495 - FmHA or its successor agency under Public Law 103-354 forms and guides.

Science.gov (United States)

2010-01-01

... for Drought and Disaster Relief” and Forms FmHA or its successor agency under Public Law 103-354 1980-68, “Lender's Agreement—Drought and Disaster Guaranteed Loans,” 1980-69, “Loan Note Guarantee—Drought... (Continued) RURAL HOUSING SERVICE, RURAL BUSINESS-COOPERATIVE SERVICE, RURAL UTILITIES SERVICE, AND FARM...

A hydrothermal flow-through apparatus to simulate leaching of nuclear waste forms under quasi-dynamic conditions

International Nuclear Information System (INIS)

Heimann, R.B.

1985-03-01

A hydrothermal flow-through apparatus has been designed that will allow the testing of individual waste package components, as well as combinations of these, under a wide range of environmental conditions. The maximum permissible temperature is 700 degrees C, while the maximum pressure is 300 MPa. Flow rates can be adjusted by sequential operation of a pneumatically operated valve with preset pause and working cycles. The main applications of the apparatus to nuclear fuel waste management research are: (i) the study of migration of ionic species through a rock column at specified hydraulic head, and (ii) the study of the rate of leaching of radionuclides from waste forms under disposal vault conditions in the presence of groundwater with variable flow rates

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Science.gov (United States)

Vaags, Andrea K; Bowdin, Sarah; Smith, Mary-Lou; Gilbert-Dussardier, Brigitte; Brocke-Holmefjord, Katja S; Sinopoli, Katia; Gilles, Cindy; Haaland, Tove B; Vincent-Delorme, Catherine; Lagrue, Emmanuelle; Harbuz, Radu; Walker, Susan; Marshall, Christian R; Houge, Gunnar; Kalscheuer, Vera M; Scherer, Stephen W; Minassian, Berge A

2014-11-01

Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studies of less common monogenic forms. We detail the disease caused by absence of the synaptic protein CNKSR2 in 8 patients ranging from 6 to 62 years old. The disease is characterized by intellectual disability, attention problems, and abrupt lifelong language loss following a brief early childhood epilepsy with continuous spike-waves in sleep. This study describes the phenotype of CNKSR2 deficiency and its involvement in systems underlying common neurological disorders. © 2014 American Neurological Association.

17 CFR 239.18 - Form S-11, for registration under the Securities Act of 1933 of securities of certain real estate...

Science.gov (United States)

2010-04-01

... under the Securities Act of 1933 of securities of certain real estate companies. 239.18 Section 239.18... Securities Act of 1933 of securities of certain real estate companies. This form shall be used for registration under the Securities Act of 1933 of (a) securities issued by real estate investment trusts, as...

Submikroskopiske kromosomforandringer disponerer til epilepsi

DEFF Research Database (Denmark)

Møller, Rikke Steensbjerre; Hjalgrim, Helle

2011-01-01

Idiopathic generalised epilepsies (IGEs) affect up to 0.3% of the general population. Genetic factors play a predominant role in the aetiology of IGEs. Molecular genetic studies have mainly identified causative gene mutations in rare monogenic forms of idiopathic epilepsies. However, the genetic ...

Genetik og hypertension

DEFF Research Database (Denmark)

Ellervik, Christina; Tarnow, Lisa; Pedersen, Erling Bjerregaard

2009-01-01

Monogenic forms of hypertension are very rare, but have a well-characterized heredity. Primary hypertension is very common with a complex and polygenic heredity. Primary hypertension arises due to an interaction between multiple genetic and environmental factors. Its heredity is unknown, although...

Analysis of the predetermining effect of a sex realizer by ovary transplantations in the monogenic flyChrysomya rufifacies.

Science.gov (United States)

Ullerich, Fritz-Helmut

1980-02-01

In the heterozygousF'/f female-producing females of the strictly monogenic blowflyChrysomya rufifacies the gene product of the dominant or epistatic female sex realizerF' which causes sexpredetermination is thought to be synthesized either by cells of the germ line (oocytes, nurse cells or oogonia) or by somatic cells and then transferred into the oocytes. To determine the possible site of synthesis, reciprocal transplantations were made of prepupal ovaries between female-producing (thelygenic; t) and male-producing (arrhenogenic; a) females ofChrysomya rufifacies. In another series of experiments prepupal host females of the wild t-type and a-type were each provided with one additional ovary either from a0type (f/f) or a t-type (F'/f) prepupa (neither were distinguishable by their phenotypes). In all these experiments the donor females were marked by the recessive sex-linked mutation 'white' (w/w); white eyes, white Malpighian tubules). In a considerable number of cases the implanted ovaries were in contact with the host's own oviduct and grew normally, but the rate of hatched adults was somewhat reduced. Crosses between such host females andw/w males (f/f) produced female or male offspring with white eyes from the eggs of the implantedw/w ovary, as well as flies with wild-type eyes (+/w) which had developed in the host's own ovaries. In all cases so far examined, the genetically thelygenic (or arrhenogenic) host females with an additional ovary implanted from an arrhenogenic (thelygenic) donor, produced progeny of both sexes: sons (daughters) from the eggs of the donor's ovary and daugthers (sons) from the eggs of the host's own gonads.These results demonstrate that the ovaries of the t-females ofChrysomya rufifacies at least from the early prepupal stage, are autonomous for the product of theF' gene. Transplantations of the premordial germ cells (pole cells) are planned to find out whether the predeterminingF' gene product is synthesized before the prepupal

Determining the sample size for co-dominant molecular marker-assisted linkage detection for a monogenic qualitative trait by controlling the type-I and type-II errors in a segregating F2 population.

Science.gov (United States)

Hühn, M; Piepho, H P

2003-03-01

Tests for linkage are usually performed using the lod score method. A critical question in linkage analyses is the choice of sample size. The appropriate sample size depends on the desired type-I error and power of the test. This paper investigates the exact type-I error and power of the lod score method in a segregating F(2) population with co-dominant markers and a qualitative monogenic dominant-recessive trait. For illustration, a disease-resistance trait is considered, where the susceptible allele is recessive. A procedure is suggested for finding the appropriate sample size. It is shown that recessive plants have about twice the information content of dominant plants, so the former should be preferred for linkage detection. In some cases the exact alpha-values for a given nominal alpha may be rather small due to the discrete nature of the sampling distribution in small samples. We show that a gain in power is possible by using exact methods.

The Job Dimensions Underlying the Job Elements of the Position Analysis Questionnaire (PAQ) (Form B). Report No. 4.

Science.gov (United States)

Marquardt, Lloyd D.; McCormick, Ernest J.

This study was concerned with the identification of the job dimension underlying the job elements of the Position Analysis Questionnaire (PAQ), Form B. The PAQ is a structured job analysis instrument consisting of 187 worker-oriented job elements which are divided into six a priori major divisions. The statistical procedure of principal components…

Performance of Screen Grid Insulating Concrete Form Walls under Combined In-Plane Vertical and Lateral Loads

KAUST Repository

Abdel Mooty, Mohamed

2010-12-01

Insulating Concrete Forms (ICF) walls generally comprise two layers of Expanded Polystyrene (EPS), steel reinforcement is placed in the center between the two layers and concrete is poured to fill the gap between those two layers. ICF\\'s have many advantages over traditional methods of wall construction such as reduced construction time, noise reduction, strength enhancement, energy efficiency, and compatibility with any inside or outside surface finish. The focus of this study is the Screen Grid ICF wall system consisting of a number of beams and columns forming a concrete mesh. The performance of ICF wall systems under lateral loads simulating seismic effect is experimentally evaluated in this paper. This work addresses the effect of the different design parameters on the wall behavior under seismic simulated loads. This includes different steel reinforcement ratio, various reinforcement distribution, wall aspect ratios, different openings sizes for windows and doors, as well as different spacing of the grid elements of the screen grid wall. Ten full scale wall specimens were tested where the effects of the various parameters on wall behavior in terms of lateral load capacity, lateral displacement, and modes of failure are presented. The test results are stored to be used for further analysis and calibration of numerical models developed for this study. © (2011) Trans Tech Publications.

Prerequisites for Forming the Institutional Concept of the National Economy Competitiveness under Conditions of Globalization

Directory of Open Access Journals (Sweden)

Yaremenko Oleh L.

2015-03-01

Full Text Available The article attempts to prove that under conditions of globalization there have developed objective and subjective prerequisites for forming the institutional concept of the national economy. The objective prerequisites are the newest information and communication technologies, post-industrial trends and market transformation of civilization intensified by globalization. Under such conditions instability and volatility of the institutional environment both within national economies and at the international level are observed. The aggravation of the global competition between national economies actualizes the role of such institutional factors as political system, property, public administration, economic organization, culture, etc. The subjective prerequisites are related to the fact that the institutional economic theory is currently one of the leading trends in the modern world and Ukrainian economic thought. Interest in it is explained not only by the fact that it overcomes the limitations of a number of prerequisites for the mainstream, but also because it allows considering the modern economic processes in complex

Forms of phosphorus in an oxisol under different soil tillage systems and cover plants in rotation with maize

Directory of Open Access Journals (Sweden)

Arminda Moreira de Carvalho

2014-06-01

Full Text Available Phosphorus fractions play a key role in sustaining the productivity of acid-savanna Oxisols and are influenced by tillage practices. The aim of this study was to quantify different P forms in an Oxisol (Latossolo Vermelho-Amarelo from the central savanna region of Brazil under management systems with cover crops in maize rotation. Three cover crops (Canavalia brasiliensis, Cajanus cajan (L., and Raphanus sativus L. were investigated in maize rotation systems. These cover crops were compared to spontaneous vegetation. The inorganic forms NaHCO3-iP and NaOH-iP represented more than half of the total P in the samples collected at the depth of 5-10 cm during the rainy season when the maize was grown. The concentration of inorganic P of greater availability (NaHCO3-iP and NaOH-iP was higher in the soil under no-tillage at the depth of 5-10 cm during the rainy season. Concentrations of organic P were higher during the dry season, when the cover crops were grown. At the dry season, organic P constituted 70 % of the labile P in the soil planted to C. cajan under no-tillage. The cover crops were able to maintain larger fractions of P available to the maize, resulting in reduced P losses to the unavailable pools, mainly in no-tillage systems.

Genetic basis of type 2 diabetes mellitus: implications for therapy

DEFF Research Database (Denmark)

Wolford, Johanna K; de Courten, Barbora

2004-01-01

influenced by the relatively recent changes in diet and physical activity levels. There is also strong evidence supporting a genetic component to type 2 diabetes susceptibility and several genes underlying monogenic forms of diabetes have already been identified. However, common type 2 diabetes is likely...... and in the responsiveness to pharmacologic therapies, identification and characterization of the genetic variants underlying type 2 diabetes susceptibility will be important in the development of individualized treatment. Findings from linkage analyses, candidate gene studies, and animal models will be valuable...... in the identification of novel pathways involved in the regulation of glucose homeostasis, and will augment our understanding of the gene-gene and gene-environment interactions, which impact on type 2 diabetes etiology and pathogenesis. In addition, identification of genetic variants that determine differences...

Caesium releases under the form of silicon micro-balls during the Fukushima-Daiichi accident. Information note

International Nuclear Information System (INIS)

2016-01-01

After having outlined that the most part (89 per cent) of radioactive cesium released in the atmosphere during the Fukushima accident was made under the form of silicon micro-balls which were more irradiating than other aerosols marked by cesium radioactive isotopes, this note first discusses whether these silicon micro-balls containing radioactive cesium were resulting from a specific phase of atmospheric release. It discusses the nature of these micro-balls, and discusses whether it is possible to quantitatively assess the contribution of these micro-balls to global releases and deposits. It discusses how these micro-balls could have formed, whether their formation can be associated with a specific phase of reactor degradation or with the degradation of a specific reactor. It discusses whether a specific behaviour of these micro-balls can be expected in the environment, and their possible impacts on radiological consequences

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

NARCIS (Netherlands)

Wang, Gang; McCain, Megan L.; Yang, Luhan; He, Aibin; Pasqualini, Francesco Silvio; Agarwal, Ashutosh; Yuan, Hongyan; Jiang, Dawei; Zhang, Donghui; Zangi, Lior; Geva, Judith; Roberts, Amy E.; Ma, Qing; Ding, Jian; Chen, Jinghai; Wang, Da-Zhi; Li, Kai; Wang, Jiwu; Wanders, Ronald J. A.; Kulik, Wim; Vaz, Frédéric M.; Laflamme, Michael A.; Murry, Charles E.; Chien, Kenneth R.; Kelley, Richard I.; Church, George M.; Parker, Kevin Kit; Pu, William T.

2014-01-01

Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combined patient-derived and genetically engineered induced pluripotent stem cells (iPSCs) with tissue engineering to elucidate the pathophysiology underlying

How do trees and the small life forms under the ground talk to each other and other outside things: Can they make our world hot (or cool) again?

Science.gov (United States)

Sihi, D.

2017-12-01

Trees use water and a bad stuff in air as food with the help of sun light and store the bad stuff in it's body parts (both the parts above the ground and under the ground). However, trees (both above and under ground parts) also return part of the same bad stuff stored in their food to air as it grows. After death, these trees become part of the dead things under the ground and a large part of the bad stuff can be locked under the ground for quite a long time. But, small life forms living under the ground, eat these dead things and return part of the bad stuff locked in these dead things under the ground to the air. The small life forms living under the ground can also make two other stuff (which are even more bad) while eating these dead things under the ground and return them to the air. All of these bad stuffs returned to the air make the air hot. Different things (like sun light, rain, water in the air and under the ground) could make it easier or harder in either storing or returning each of these bad stuffs by the trees or life forms living under the ground in different ways. We study how trees and the small life forms living under the ground talk to each other and to other things mentioned above, and decide how much of those bad stuffs to store and return. But, we do not know well how each of these things can change one another and how trees and small life forms living under the ground will respond to these changes. So, we are yet to understand how much the air will be hotter (if more bad stuff are returned to the air than stored in trees and under the ground) or cooler (if less bad stuffs are returned to the air than stored in trees and under the ground) in tomorrow's world.

Autism Spectrum Disorders Associated with Chromosomal Abnormalities

Science.gov (United States)

Lo-Castro, Adriana; Benvenuto, Arianna; Galasso, Cinzia; Porfirio, Cristina; Curatolo, Paolo

2010-01-01

Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several "monogenic" forms of autism have been…

17 CFR 259.206 - Form U-6B-2, for notification of security issues exempt under section 6(b) of the Act.

Science.gov (United States)

2010-04-01

... of security issues exempt under section 6(b) of the Act. 259.206 Section 259.206 Commodity and... security issues exempt under section 6(b) of the Act. This form shall be filed pursuant to section 6(b) of the Act as the certificate of notification of the issue, sale, renewal, or guaranty of securities...

Obesity – Are we continuing to play the genetic “blame game”?

Directory of Open Access Journals (Sweden)

Radha V

2016-11-01

Full Text Available Venkatesan Radha,1 Viswanathan Mohan1,2 1Department of Molecular Genetics, Madras Diabetes Research Foundation, 2Dr. Mohan’s Diabetes Specialties Centre, WHO Collaborating Centre for Noncommunicable Diseases, Prevention and Control, IDF Centre for Education, Gopalapuram, Chennai, India Abstract: Obesity is a heterogeneous disorder, its biological causes being complex. The escalating frequency of obesity during the past few decades is due to environmental factors such as sedentary lifestyle and overnutrition, but who becomes obese at an individual level is determined by genetic susceptibility. Understanding of the molecular cause of obesity is still in its infancy. More research is needed in the area of obesity genetics and epigenetics before formulating public health prescription as presently it would not be cost-effective. This review delineates monogenic form of obesity and the multifactorial nature of common forms of obesity, due to the interaction of genes, environment, and lifestyle. Keywords: obesity, genes, genomics, monogenic obesity, polygenic obesity

Differential release of manure-borne bioactive phosphorus forms to runoff and leachate under simulated rain.

Science.gov (United States)

Blaustein, R A; Dao, Thanh H; Pachepsky, Y A; Shelton, D R

2017-05-01

Limited information exists on the unhindered release of bioactive phosphorus (P) from a manure layer to model the partitioning and transport of component P forms before they reach an underlying soil. Rain simulations were conducted to quantify effects of intensity (30, 60, and 90 mm h -1 ) on P release from an application of 60 Mg ha -1 of dairy manure. Runoff contained water-extractable- (WEP), exchangeable and enzyme-labile bioactive P (TBIOP), in contrast to the operationally defined "dissolved-reactive P" form. The released P concentrations and flow-weighed mass loads were described by the log-normal probability density function. At a reference condition of 30 mm h -1 and maintaining the surface at a 5% incline, runoff was minimal, and WEP accounted for 20.9% of leached total P (TP) concentrations, with an additional 25-30% as exchangeable and enzyme-labile bioactive P over the 1-h simulation. On a 20% incline, increased intensity accelerated occurrence of concentration max and shifted the skewed P concentration distribution more to the left. Differences in trends of WEP, TBIOP, or net enzyme-labile P (PHP o ) cumulative mass released per unit mass of manure between intensities were attributable to the higher frequency of raindrops striking the manure layer, thus increasing detachment and load of colloidal PHP o of the water phases. Thus, detailed knowledge of manure physical characteristics, bioactive P distribution in relation to rain intensity, and attainment of steady-state of water fluxes were critical factors in improved prediction of partitioning and movement of manure-borne P under rainfall. Published by Elsevier Ltd.

Purification of hydrogen under a free or combined form in a gaseous mixture, by chemical reactions with uranium

International Nuclear Information System (INIS)

Caron Charles, M.

1988-03-01

Within the framework of the european fusion program, we are dealing with the purification of hydrogen (tritium) under a free or combined form, from a H 2 , N 2 , NH 3 , CH 4 , O 2 , gaseous mixture. The process consists in cracking the hydrogenated molecules and absorbing the impurities by chemical reactions with uranium, without holding back hydrogen. In the temperature range: 950 K [fr

Permanent neonatal diabetes mellitus - a case report of a rare cause ...

African Journals Online (AJOL)

Diabetes mellitus is a metabolic disease characterised by chronically high glucose levels. Genetic factors have been implicated in the aetiology following mutations in a single gene. An extremely rare form of diabetes mellitus is monogenic diabetes, a subset of which is permanent neonatal diabetes, and is usually ...

Monogenic diabetes syndromes

DEFF Research Database (Denmark)

Astuti, Dewi; Sabir, Ataf; Fulton, Piers

2017-01-01

(n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1. We then investigated genotype-phenotype relations...

Soil water erosion under different cultivation systems and different fertilization rates and forms over 10 years

Directory of Open Access Journals (Sweden)

Ildegardis Bertol

2014-12-01

Full Text Available The action of rain and surface runoff together are the active agents of water erosion, and further influences are the soil type, terrain, soil cover, soil management, and conservation practices. Soil water erosion is low in the no-tillage management system, being influenced by the amount and form of lime and fertilizer application to the soil, among other factors. The aim was to evaluate the effect of the form of liming, the quantity and management of fertilizer application on the soil and water losses by erosion under natural rainfall. The study was carried out between 2003 and 2013 on a Humic Dystrupept soil, with the following treatments: T1 - cultivation with liming and corrective fertilizer incorporated into the soil in the first year, and with 100 % annual maintenance fertilization of P and K; T2 - surface liming and corrective fertilization distributed over five years, and with 75 % annual maintenance fertilization of P and K; T3 - surface liming and corrective fertilization distributed over three years, and with 50 % annual maintenance fertilization of P and K; T4 - surface liming and corrective fertilization distributed over two years, and with 25 % annual maintenance fertilization of P and K; T5 - fallow soil, without liming or fertilization. In the rotation the crops black oat (Avena strigosa , soybean (Glycine max , common vetch (Vicia sativa , maize (Zea mays , fodder radish (Raphanus sativus , and black beans (Phaseolus vulgaris . The split application of lime and mineral fertilizer to the soil surface in a no-tillage system over three and five years, results in better control of soil losses than when split in two years. The increase in the amount of fertilizer applied to the soil surface under no-tillage cultivation increases phytomass production and reduces soil loss by water erosion. Water losses in treatments under no-tillage cultivation were low in all crop cycles, with a similar behavior as soil losses.

Intelligence : shared genetic basis between Mendelian disorders and a polygenic trait

NARCIS (Netherlands)

Franić, Sanja; Groen-Blokhuis, Maria M; Dolan, Conor V; Kattenberg, Mathijs V; Pool, René; Xiao, Xiangjun; Scheet, Paul A; Ehli, Erik A; Davies, Gareth E; van der Sluis, Sophie; Abdellaoui, Abdel; Hansell, Narelle K; Martin, Nicholas G; Hudziak, James J; van Beijsterveldt, Catherina E M; Swagerman, Suzanne C; Hulshoff Pol, Hilleke E; de Geus, Eco J C; Bartels, Meike; Ropers, H Hilger; Hottenga, Jouke-Jan; Boomsma, Dorret I

2015-01-01

Multiple inquiries into the genetic etiology of human traits indicated an overlap between genes underlying monogenic disorders (eg, skeletal growth defects) and those affecting continuous variability of related quantitative traits (eg, height). Extending the idea of a shared genetic basis between a

The study of diffusion in network-forming liquids under pressure and temperature

Energy Technology Data Exchange (ETDEWEB)

Hung, P.K. [Department of Computational Physics, Hanoi University of Technology, 1Dai Co Viet, Hanoi (Viet Nam); Kien, P.H., E-mail: phkien80@gmail.com [Department of Physics, Thainguyen University of Education, 20 Luong Ngoc Quyen, Thainguyen (Viet Nam); San, L.T.; Hong, N.V. [Department of Computational Physics, Hanoi University of Technology, 1Dai Co Viet, Hanoi (Viet Nam)

2016-11-15

In this paper, the molecular dynamics simulation is applied to investigate the diffusion in silica liquids under different temperature and pressure. We show that the diffusion is controlled by the rate of effective SiO{sub x}→SiO{sub x±1} and OSi{sub y}→OSi{sub y±1} reaction. With increasing the pressure, the rate of reaction increases and the Si–O bond is weaker. Moreover, the reactions are not uniformly distributed in the space, but instead they happen frequently or rarely in separate regions. We also reveal two motion types: free and correlation motion. The correlation motion concerns the moving of a group of atoms which is similar to that of the diffusion of a super-molecule in the liquid. A detailed analysis of the movement of atoms from specified set shows the clustering of them which indicates structure and dynamics heterogeneity. Further, we find that the correlation motion is very important for the diffusion in network-forming liquid. The observed phenomena such as diffusion anomaly, dynamics heterogeneity and dynamical slowdown are originated from the correlation motion of atom.

Maturity onset diabetes of the young : Seek and you will find

NARCIS (Netherlands)

Heuvel-Borsboom, H; de Valk, H W; Losekoot, M; Westerink, J

Maturity onset diabetes of the young (MODY) is a monogenic, autosomal dominant form of diabetes characterised by mutations in genes resulting in dysfunction of pancreatic β-cells and subsequent insulin production. We present a family with HNF1A-MODY due to a likely pathogenic mutation in HNF1A

Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children

Science.gov (United States)

Melanocortin-4-receptor (MC4R) haploinsufficiency is the most common form of monogenic obesity; however, the frequency of MC4R variants and their functional effects in general populations remain uncertain. The aim of this study was to identify and characterize the effects of MC4R variants in Hispani...

Study of the environment and optical properties of Ti3+ ions formed under ionizing irradiations in oxide glasses

International Nuclear Information System (INIS)

Lombard, Pierre

2009-10-01

We studied by Electron Paramagnetic Resonance (EPR), by EPR simulation, by Raman spectroscopy and by photoluminescence the Ti 3+ ions formed under β-irradiation from 3, 37 * 10 5 to 1, 68 * 10 9 Gy in SiO 2 - Na 2 O - TiO 2 and SiO 2 - Al 2 0 3 - B 2 O 3 - Na 2 O - TiO 2 glasses. We demonstrate the existence of three different Ti 3+ sites in silicate glasses and three other Ti 3+ sites in alumino-borosilicate glasses. One of theses sites is common to both kind of glasses. Moreover, we associate theses sites to three different titanium environment: (VI)Ti 3+ (octahedral), (V)Ti 3+ square pyramid and may be (V)Ti 3+ trigonal bi - pyramid. The existence of theses sites is determined by the total integrated dose and by the [Na]/[Ti] ratio. We propose a definition of this ratio in the special case of SiO 2 - Al 2 O 3 - B 2 O 3 - Na 2 O - TiO 2 glasses. Last, under 266 nm excitation, we observe at room temperature an emission band at 500 nm attributed to Ti 4+ ions. Under a 532 nm excitation, we observe an emission band at 590 nm with a short lifetime (hundred of ns) attributed either to Ti 3+ ions or to an irradiation defect formed near a Ti 4+ ion. Our study demonstrate that is possible to control by the chemical composition and the integrated dose the Ti 3+ environment and the emission properties of this ion in an oxide glass. (author)

Normal forms of invariant vector fields under a finite group action

International Nuclear Information System (INIS)

Sanchez Bringas, F.

1992-07-01

Let Γ be a finite subgroup of GL(n,C). This subgroup acts on the space of germs of holomorphic vector fields vanishing at the origin in C n . We prove a theorem of invariant conjugation to a normal form and linearization for the subspace of invariant elements and we give a description of these normal forms in dimension n=2. (author)

Improving the forming capability of laser dynamic forming by using rubber as a forming medium

Science.gov (United States)

Shen, Zongbao; Liu, Huixia; Wang, Xiao; Wang, Cuntang

2016-04-01

Laser dynamic forming (LDF) is a novel high velocity forming technique, which employs laser-generated shock wave to load the sample. The forming velocity induced by the high energy laser pulse may exceed the critical forming velocity, resulting in the occurrence of premature fracture. To avoid the above premature fracture, rubber is introduced in LDF as a forming medium to prolong the loading duration in this paper. Laser induced shock wave energy is transferred to the sample in different forming stages, so the forming velocity can be kept below the critical forming velocity when the initial laser energy is high for fracture. Bulge forming experiments with and without rubber were performed to study the effect of rubber on loading duration. The experimental results show that, the shock wave energy attenuates during the propagation through the rubber layer, the rubber can avoid the premature fracture. So the plastic deformation can continue, the forming capability of LDF is improved. Due to the severe plastic deformation under rubber compression, adiabatic shear bands (ASB) occur in LDF with rubber. The material softening in ASB leads to the irregular fracture, which is different from the premature fracture pattern (regular fracture) in LDF without rubber. To better understand this deformation behavior, Johnson-Cook model is used to simulate the dynamic response and the evolution of ASB of copper sample. The simulation results also indicate the rubber can prolong the loading duration.

Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?

Science.gov (United States)

Timsit, José; Saint-Martin, Cécile; Dubois-Laforgue, Danièle; Bellanné-Chantelot, Christine

2016-10-01

Maturity-onset diabetes of the young (MODY) is a group of monogenic diseases that results in primary defects in insulin secretion and dominantly inherited forms of nonautoimmune diabetes. Although many genes may be associated with monogenic diabetes, heterozygous mutations in 6 of them are responsible for the majority of cases of MODY. Glucokinase (GCK)-MODY is due to mutations in the glucokinase gene, 3 MODY subtypes are associated with mutations in the hepatocyte nuclear factor (HNF) transcription factors, and 2 others with mutations in ABCC8 and KCNJ11, which encode the subunits of the ATP-dependent potassium channel in pancreatic beta cells. GCK-MODY and HNF1A-MODY are the most common subtypes. The clinical presentation of MODY subtypes has been reported to differ according to the gene involved, and the diagnosis of MODY may be considered in various clinical circumstances. However, except in patients with GCK-MODY whose phenotype is very homogeneous, in most cases the penetrance and expressivity of a given molecular abnormality vary greatly among patients and, conversely, alterations in various genes may lead to similar phenotypes. Moreover, differential diagnosis among more common forms of diabetes may be difficult, particularly with type 2 diabetes. Thus, careful assessment of the personal and family histories of patients with diabetes is mandatory to select those in whom genetic screening is worthwhile. The diagnosis of monogenic diabetes has many consequences in terms of prognosis, therapeutics and family screening. Copyright © 2015 Canadian Diabetes Association. Published by Elsevier Inc. All rights reserved.

Scientific basis for long-term prediction of waste-form performance under repository conditions

International Nuclear Information System (INIS)

Mendel, J.E.

1982-10-01

This paper presents an overview of the fundamental principles involved in predicting long-term performance of waste forms by the as-low-as-reasonably-achievable approach. Repository conditions which make up the waste-form environment, the aging of the waste form, the important radionuclides in the waste form, the chemistry of repository fluids, and multicomponent interactions testing were considered in order to describe these principles. The need for confidence limits on the prediction of waste-form performance and ways of achieving a definition of the confidence limits are discussed

Effect of different N fertilizer forms on antioxidant capacity and grain yield of rice growing under Cd stress

International Nuclear Information System (INIS)

Jalloh, Mohamed Alpha; Chen Jinghong; Zhen Fanrong; Zhang Guoping

2009-01-01

Cadmium contamination in soil has become a serious issue in sustainable agriculture production and food safety. A pot experiment was conducted to study the influence of four N fertilizer forms on grain yield, Cd concentration in plant tissues and oxidative stress under two Cd levels (0 and 100 mg Cd kg -1 soil). The results showed that both N form and Cd stress affected grain yield, with urea-N and NH 4 + -N treatments having significantly higher grain yields, and Cd addition reducing yield. NO 3 - -N and NH 4 + -N treated plants had the highest and lowest Cd concentration in plant tissues, respectively. Urea-N and NH 4 + -N treatments had significantly higher N accumulation in plant tissues than other two N treatments. Cd addition caused a significant increase in leaf superoxide dismutase (SOD) and peroxidase (POD) activities for all N treatments, except for NO 3 - -N treatment, with urea-N and NH 4 + -N treated plants having more increase than organic-N treated ones. The results indicated that growth inhibition, yield reduction and Cd uptake of rice plants in response to Cd addition varied with the N fertilizer form

Effect of different N fertilizer forms on antioxidant capacity and grain yield of rice growing under Cd stress.

Science.gov (United States)

Jalloh, Mohamed Alpha; Chen, Jinghong; Zhen, Fanrong; Zhang, Guoping

2009-03-15

Cadmium contamination in soil has become a serious issue in sustainable agriculture production and food safety. A pot experiment was conducted to study the influence of four N fertilizer forms on grain yield, Cd concentration in plant tissues and oxidative stress under two Cd levels (0 and 100 mg Cd kg(-1)soil). The results showed that both N form and Cd stress affected grain yield, with urea-N and NH(4)(+)-N treatments having significantly higher grain yields, and Cd addition reducing yield. NO(3)(-)-N and NH(4)(+)-N treated plants had the highest and lowest Cd concentration in plant tissues, respectively. Urea-N and NH(4)(+)-N treatments had significantly higher N accumulation in plant tissues than other two N treatments. Cd addition caused a significant increase in leaf superoxide dismutase (SOD) and peroxidase (POD) activities for all N treatments, except for NO(3)(-)-N treatment, with urea-N and NH(4)(+)-N treated plants having more increase than organic-N treated ones. The results indicated that growth inhibition, yield reduction and Cd uptake of rice plants in response to Cd addition varied with the N fertilizer form.

8 CFR 265.1 - Forms.

Science.gov (United States)

2010-01-01

... 8 Aliens and Nationality 1 2010-01-01 2010-01-01 false Forms. 265.1 Section 265.1 Aliens and Nationality DEPARTMENT OF HOMELAND SECURITY IMMIGRATION REGULATIONS NOTICES OF ADDRESS § 265.1 Forms. Except... under section 262 of the Act shall report each change of address and new address within 10 days on Form...

A consistent and verifiable macroscopic model for the dissolution of liquid CO2 in water under hydrate forming conditions

International Nuclear Information System (INIS)

Radhakrishnan, R.; Demurov, A.; Trout, B.L.; Herzog, H.

2003-01-01

Direct injection of liquid CO 2 into the ocean has been proposed as one method to reduce the emission levels of CO 2 into the atmosphere. When liquid CO 2 is injected (normally as droplets) at ocean depths >500 m, a solid interfacial region between the CO 2 and the water is observed to form. This region consists of hydrate clathrates and hinders the rate of dissolution of CO 2 . It is, therefore, expected to have a significant impact on the injection of liquid CO 2 into the ocean. Up until now, no consistent and predictive model for the shrinking of droplets of CO 2 under hydrate forming conditions has been proposed. This is because all models proposed to date have had too many unknowns. By computing rates of the physical and chemical processes in hydrates via molecular dynamics simulations, we have been able to determine independently some of these unknowns. We then propose the most reasonable model and use it to make independent predictions of the rates of mass transfer and thickness of the hydrate region. These predictions are compared to measurements, and implications to the rates of shrinkage of CO 2 droplets under varying flow conditions are discussed. (author)

Closed-form Capacity Expressions for the α-μ Fading Channel with SC Diversity under Different Adaptive Transmission Strategies

Science.gov (United States)

Mohamed, Refaat; Ismail, Mahmoud H.; Newagy, Fatma; Mourad, Heba M.

2013-03-01

Stemming from the fact that the α-μ fading distribution is one of the very general fading models used in the literature to describe the small scale fading phenomenon, in this paper, closed-form expressions for the Shannon capacity of the α-μ fading channel operating under four main adaptive transmission strategies are derived assuming integer values for μ. These expressions are derived for the case of no diversity as well as for selection combining diversity with independent and identically distributed branches. The obtained expressions reduce to those previously derived in the literature for the Weibull as well as the Rayleigh fading cases, which are both special cases of the α-μ channel. Numerical results are presented for the capacity under the four adaptive transmission strategies and the effect of the fading parameter as well as the number of diversity branches is studied.

Conjoint Forming - Technologies for Simultaneous Forming and Joining

International Nuclear Information System (INIS)

Groche, P; Wohletz, S; Mann, A; Krech, M; Monnerjahn, V

2016-01-01

The market demand for new products optimized for e. g. lightweight applications or smart components leads to new challenges in production engineering. Hybrid structures represent one promising approach. They aim at higher product performance by using a suitable combination of different materials. The developments of hybrid structures stimulate the research on joining of dissimilar materials. Since they allow for joining dissimilar materials without external heating technologies based on joining by plastic deformation seem to be of special attractiveness. The paper at hand discusses the conjoint forming approach. This approach combines forming and joining in one process. Two or more workpieces are joined while at least one workpiece is plastically deformed. After presenting the fundamental joining mechanisms, the conjoint forming approach is discussed comprehensively. Examples of conjoint processes demonstrate the effectiveness and reveal the underlying phenomena. (paper)

Learning and Behavioral Deficits Associated with the Absence of the Fragile X Mental Retardation Protein: What a Fly and Mouse Model Can Teach Us

Science.gov (United States)

Santos, Ana Rita; Kanellopoulos, Alexandros K.; Bagni, Claudia

2014-01-01

The Fragile X syndrome (FXS) is the most frequent form of inherited mental disability and is considered a monogenic cause of autism spectrum disorder. FXS is caused by a triplet expansion that inhibits the expression of the "FMR1" gene. The gene product, the Fragile X Mental Retardation Protein (FMRP), regulates mRNA metabolism in brain…

Progress in forming bottom barriers under waste sites

International Nuclear Information System (INIS)

Carter, E.E.

1997-01-01

The paper describes an new method for the construction, verification, and maintenance of underground vaults to isolate and contain radioactive burial sites without excavation or drilling in contaminated areas. The paper begins with a discussion of previous full-scale field tests of horizontal barrier tools which utilized high pressure jetting technology. This is followed by a discussion of the TECT process, which cuts with an abrasive cable instead of high pressure jets. The new method is potentially applicable to more soil types than previous methods and can form very thick barriers. Both processes are performed from the perimeter of a site and require no penetration or disturbance of the active waste area. The paper also describes long-term verification methods to monitor barrier integrity passively

Inelastic behavior of cold-formed braced walls under monotonic and cyclic loading

Science.gov (United States)

Gerami, Mohsen; Lotfi, Mohsen; Nejat, Roya

2015-06-01

The ever-increasing need for housing generated the search for new and innovative building methods to increase speed and efficiency and enhance quality. One method is the use of light thin steel profiles as load-bearing elements having different solutions for interior and exterior cladding. Due to the increase in CFS construction in low-rise residential structures in the modern construction industry, there is an increased demand for performance inelastic analysis of CFS walls. In this study, the nonlinear behavior of cold-formed steel frames with various bracing arrangements including cross, chevron and k-shape straps was evaluated under cyclic and monotonic loading and using nonlinear finite element analysis methods. In total, 68 frames with different bracing arrangements and different ratios of dimensions were studied. Also, seismic parameters including resistance reduction factor, ductility and force reduction factor due to ductility were evaluated for all samples. On the other hand, the seismic response modification factor was calculated for these systems. It was concluded that the highest response modification factor would be obtained for walls with bilateral cross bracing systems with a value of 3.14. In all samples, on increasing the distance of straps from each other, shear strength increased and shear strength of the wall with bilateral bracing system was 60 % greater than that with lateral bracing system.

Effect of different N fertilizer forms on antioxidant capacity and grain yield of rice growing under Cd stress

Energy Technology Data Exchange (ETDEWEB)

Jalloh, Mohamed Alpha; Chen Jinghong; Zhen Fanrong [Department of Agronomy, Huajiachi Campus, Zhejiang University, Hangzhou 310029 (China); Zhang Guoping [Department of Agronomy, Huajiachi Campus, Zhejiang University, Hangzhou 310029 (China)], E-mail: zhanggp@zju.edu.cn

2009-03-15

Cadmium contamination in soil has become a serious issue in sustainable agriculture production and food safety. A pot experiment was conducted to study the influence of four N fertilizer forms on grain yield, Cd concentration in plant tissues and oxidative stress under two Cd levels (0 and 100 mg Cd kg{sup -1} soil). The results showed that both N form and Cd stress affected grain yield, with urea-N and NH{sub 4}{sup +}-N treatments having significantly higher grain yields, and Cd addition reducing yield. NO{sub 3}{sup -}-N and NH{sub 4}{sup +}-N treated plants had the highest and lowest Cd concentration in plant tissues, respectively. Urea-N and NH{sub 4}{sup +}-N treatments had significantly higher N accumulation in plant tissues than other two N treatments. Cd addition caused a significant increase in leaf superoxide dismutase (SOD) and peroxidase (POD) activities for all N treatments, except for NO{sub 3}{sup -}-N treatment, with urea-N and NH{sub 4}{sup +}-N treated plants having more increase than organic-N treated ones. The results indicated that growth inhibition, yield reduction and Cd uptake of rice plants in response to Cd addition varied with the N fertilizer form.

[Genetics of ischemic stroke].

Science.gov (United States)

Gschwendtner, A; Dichgans, M

2013-02-01

Stroke is one of the most widespread causes of mortality und disability worldwide. Around 80 % of strokes are ischemic and different forms of intracranial bleeding account for the remaining cases. Monogenic stroke disorders are rare but the diagnosis may lead to specific therapeutic consequences for the affected patients who are predominantly young. In common sporadic stroke, genetic factors play a role in the form of susceptibility genes. Their discovery may give rise to new therapeutic options in the future.

Non-tenera Contamination and the Economic Impact of SHELL Genetic Testing in the Malaysian Independent Oil Palm Industry

OpenAIRE

Ooi, Leslie C.-L.; Low, Eng-Ti L.; Abdullah, Meilina O.; Nookiah, Rajanaidu; Ting, Ngoot C.; Nagappan, Jayanthi; Manaf, Mohamad A. A.; Chan, Kuang-Lim; Halim, Mohd A.; Azizi, Norazah; Omar, Wahid; Murad, Abdul J.; Lakey, Nathan; Ordway, Jared M.; Favello, Anthony

2016-01-01

Oil palm (Elaeis guineensis) is the most productive oil bearing crop worldwide. It has three fruit forms, namely dura (thick-shelled), pisifera (shell-less) and tenera (thin-shelled), which are controlled by the SHELL gene. The fruit forms exhibit monogenic co-dominant inheritance, where tenera is a hybrid obtained by crossing maternal dura and paternal pisifera palms. Commercial palm oil production is based on planting thin-shelled tenera palms, which typically yield 30% more oil than dura p...

Adhesive Properties and Acid-Forming Activity of Lactobacilli and Streptococci Under Inhibitory Substances, Such as Nitrates.

Science.gov (United States)

Hakobyan, L; Harutyunyan, K; Harutyunyan, N; Melik-Andreasyan, G; Trchounian, A

2016-06-01

One of the main requirements for probiotics is their ability to survive during passage through gastrointestinal tract and to maintain their activity at different adverse conditions. The aim of the study was to look for the strains of lactobacilli and streptococci with high adhesive properties even affected by inhibitory substances, such as nitrates (NO3 (-)). To study the adhesion properties hemagglutination reaction of bacterial cells with red blood cells of different animals and humans was used. The acid formation ability of bacteria was determined by the method of titration after 7 days of incubation in the sterile milk. These properties were investigated at different concentrations of NO3 (-). The high concentration (mostly ≥2.0 %) NO3 (-) inhibited the growth of both lactobacilli and streptococci, but compared with streptococcal cultures lactobacilli, especially Lactobacillus acidophilus Ep 317/402, have shown more stability and higher adhesive properties. In addition, the concentrations of NO3 (-) of 0.5-2.0 % decreased the acid-forming activity of the strains, but even under these conditions they coagulated milk and, in comparison to control, formed low acidity in milk. Thus, the L. acidophilus Ep 317/402 with high adhesive properties has demonstrated a higher activity of NO3 (-) transformation.

Closed-form critical earthquake response of elastic-plastic structures on compliant ground under near-fault ground motions

Directory of Open Access Journals (Sweden)

Kotaro eKojima

2016-01-01

Full Text Available The double impulse is introduced as a substitute of the fling-step near-fault ground motion. A closed-form solution of the elastic-plastic response of a structure on compliant (flexible ground by the ‘critical double impulse’ is derived for the first time based on the solution for the corresponding structure with fixed base. As in the case of fixed-base model, only the free-vibration appears under such double impulse and the energy approach plays an important role in the derivation of the closed-form solution of a complicated elastic-plastic response on compliant ground. It is remarkable that no iteration is needed in the derivation of the critical elastic-plastic response. It is shown via the closed-form expression that, in the case of a smaller input level of double impulse to the structural strength, as the ground stiffness becomes larger, the maximum plastic deformation becomes larger. On the other hand, in the case of a larger input level of double impulse to the structural strength, as the ground stiffness becomes smaller, the maximum plastic deformation becomes larger. The criticality and validity of the proposed theory are investigated through the comparison with the response analysis to the corresponding one-cycle sinusoidal input as a representative of the fling-step near-fault ground motion. The applicability of the proposed theory to actual recorded pulse-type ground motions is also discussed.

The Genetic Architecture Underlying the Evolution of a Rare Piscivorous Life History Form in Brown Trout after Secondary Contact and Strong Introgression

Directory of Open Access Journals (Sweden)

Arne Jacobs

2018-05-01

Full Text Available Identifying the genetic basis underlying phenotypic divergence and reproductive isolation is a longstanding problem in evolutionary biology. Genetic signals of adaptation and reproductive isolation are often confounded by a wide range of factors, such as variation in demographic history or genomic features. Brown trout (Salmo trutta in the Loch Maree catchment, Scotland, exhibit reproductively isolated divergent life history morphs, including a rare piscivorous (ferox life history form displaying larger body size, greater longevity and delayed maturation compared to sympatric benthivorous brown trout. Using a dataset of 16,066 SNPs, we analyzed the evolutionary history and genetic architecture underlying this divergence. We found that ferox trout and benthivorous brown trout most likely evolved after recent secondary contact of two distinct glacial lineages, and identified 33 genomic outlier windows across the genome, of which several have most likely formed through selection. We further identified twelve candidate genes and biological pathways related to growth, development and immune response potentially underpinning the observed phenotypic differences. The identification of clear genomic signals divergent between life history phenotypes and potentially linked to reproductive isolation, through size assortative mating, as well as the identification of the underlying demographic history, highlights the power of genomic studies of young species pairs for understanding the factors shaping genetic differentiation.

Multi-objective optimization under uncertainty for sheet metal forming

Directory of Open Access Journals (Sweden)

Lafon Pascal

2016-01-01

Full Text Available Aleatory uncertainties in material properties, blank thickness and friction condition are inherent and irreducible variabilities in sheet metal forming. Optimal design configurations, which are obtained by conventional design optimization methods, are not always able to meet the desired targets due to the effect of uncertainties. This paper proposes a multi-objective robust design optimization that aims to tackle this problem. Results obtained on a U shape draw bending benchmark show that spring-back effect can be controlled by optimizing process parameters.

Electrically assisted forming modeling and control

CERN Document Server

Salandro, Wesley A; Bunget, Cristina; Mears, Laine; Roth, John T

2015-01-01

Maximizing reader insights into the latest research findings and applications of Electrically-Assisted Forming (EAF) – whereby metals are formed under an electric current field – this book explains how such a process produces immediate improved formability of metals beyond the extent of thermal softening, and allows metals to be formed to greater elongation with lower mechanical energy as well as allowing for lightweight brittle metals such as magnesium and titanium to be formed without external heating or annealing, enabling the more effective use of these lightweight metals in design. Including case studies that illustrate and support the theoretical content and real-world applications of the techniques discussed, this book also serves to enrich readers understanding of the underlying theories that influence electro-plastic behaviour. The authors have extensive experience in studying Electrically-Assisted Forming and have written extensively on the topic with publications including experimental works, t...

The genetics of childhood obesity and interaction with dietary macronutrients.

Science.gov (United States)

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

2013-05-01

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

Mapping local structural perturbations in the native state of stefin B (cystatin B under amyloid forming conditions

Directory of Open Access Journals (Sweden)

Robert eParamore

2012-10-01

Full Text Available Unlike a number of amyloid-forming proteins, stefins, in particular stefin B (cystatin B form amyloids under conditions where the native state predominates. In order to trigger oligomerization processes, the stability of the protein needs to be compromised, favoring structural re-arrangement however, accelerating fibril formation is not a simple function of protein stability. We report here on how optimal conditions for amyloid formation lead to the destabilization of dimeric and tetrameric states of the protein in favor of the monomer. Small, highly localized structural changes can be mapped out that allow us to visualize directly areas of the protein which eventually become responsible for triggering amyloid formation. These regions of the protein overlap with the Cu (II-binding sites which we identify here for the first time. We hypothesize that in vivo modulators of amyloid formation may act similarly to painstakingly optimized solvent conditions developed in vitro. We discuss these data in the light of current structural models of stefin B amyloid fibrils based on H-exchange data, where the detachment of the helical part and the extension of loops were observed.

The effectiveness of Microsoft Project in assessing extension of time under PAM 2006 standard form of contract

Science.gov (United States)

Suhaida, S. K.; Wong, Z. D.

2017-11-01

Time is equal to money; and it is applies in the construction industry where time is very important. Most of the standard form of contracts provide contractual clauses to ascertain time and money related to the scenarios while Extension of Time (EOT) is one of them. Under circumstance and delays, contractor is allow to apply EOT in order to complete the works on a later completion date without Liquidated Damages (LD) imposed to the claimant. However, both claimants and assessors encountered problems in assessing the EOT. The aim of this research is to recommend the usage of Microsoft Project as a tool in assessing EOT associated with the standard form of contract, PAM 2006. A quantitative method is applied towards the respondents that consisted of architects and quantity surveyors (QS) in order to collect data on challenges in assessing EOT claims and the effectiveness of Microsoft Project as a tool. The finding of this research highlighted that Microsoft Project can serve as a basis to perform EOT tasks as this software can be used as a data bank to store handy information which crucial for preparing and evaluating EOT.

Getting in-formed

DEFF Research Database (Denmark)

Hansbøl, Mikala

det vi undersøger på form gennem vores beskrivelser. Paperet tager afsæt i empiriske eksempler fra et postdoc projekt om et såkaldt 'serious game' - Mingoville. Projektet følger circuleringer og etableringer af Mingoville 'på en global markedsplads'. I paperet diskuteres hvordan vi som forskere samler....../performer de fænomener vi forsker i. Aktør-Netværks-Teoretiker Bruno Latour (2005) pointerer at enhver beskrivelse også er en form for forklaring. En form for forklaring, der putter ting ind i et skript og dermed også putter ting på form. Paperet diskuterer to tilgange til at gøre serious games og derved skabe viden om...... engagementer med disse fænomener i serious games forskning: experimentel og etnografisk....

Chemical forms of radioiodine

International Nuclear Information System (INIS)

Tachikawa, Enzo

1979-01-01

Release of radioiodine built-up during reactor operations presents a potential problem from the standpoint of environmental safety. Among the chemical forms of radioiodine, depending upon the circumstances, organic iodides cast a most serious problem because of its difficulties in the trapping and because of its stability compared to other chemical forms. Furthermore, pellet-cladding interaction (PCl) fuel failures in LWR fuel rods are believed to be stress corrosion cracks caused by embrittling fission product species, radioiodine. To deal with these problems, knowledge is required on the chemical behaviors of radioiodine in and out of fuels, as well as the release behaviors from fuels. Here a brief review is given of these respects, in aiming at clearing-up the questions still remaining unknown. The data seem to indicate that radioiodine exists as a combined form in fuels. upon heating slightly irradiated fuels, the iodine atoms are released in a chemical form associated with uranium atoms. Experiments, however, as needed with specimen of higher burnup, where the interactions of radioiodine with metallic fission products could be favored. The dominant release mechanism of radioiodine under normal operating temperatures will be diffusion to grain boundaries leading to open surfaces. Radiation-induced internal traps, however, after the rate of diffusion significantly. The carbon sources of organic iodides formed under various conditions and its formation mechanisms have also been considered. (author)

Reciprocal mass tensor : a general form

International Nuclear Information System (INIS)

Roy, C.L.

1978-01-01

Using the results of earlier treatment of wave packets, a general form of reciprocal mass tensor has been obtained. The elements of this tensor are seen to be dependent on momentum as well as space coordinates of the particle under consideration. The conditions under which the tensor would reduce to the usual space-independent form, are discussed and the impact of the space-dependence of this tensor on the motion of Bloch electrons, is examined. (author)

Leaching behavior of a simulated bituminized radioactive waste form under deep geological conditions

International Nuclear Information System (INIS)

Nakayama, Shinichi; Iida, Yoshihisa; Nagano, Tetsushi; Akimoto, Toshiyuki

2003-01-01

The leaching behavior of a simulated bituminized waste form was studied to acquire data for the performance assessment of the geologic disposal of bituminized radioactive waste. Laboratory-scale leaching tests were performed for radioactive and non-radioactive waste specimens simulating bituminized waste of a French reprocessing company, COGEMA. The simulated waste was contacted with deionized water, an alkaline solution (0.03-mol/l KOH), and a saline solution (0.5-mol/l KCl) under atmospheric and anoxic conditions. The concentrations of Na, Ba, Cs, Sr, Np, Pu, NO 3 , SO 4 and I in the leachates were determined. Swelling of the bituminized waste progressed in deionized water and KOH. The release of the soluble components, Na and Cs, was enhanced by the swelling, and considered to be diffusion-controlled in the swelled layers of the specimens. The release of sparingly soluble components such as Ba and Np was solubility-limited in addition to the progression of leaching. Neptunium, a redox-sensitive element, showed a distinct difference in release between anoxic and atmospheric conditions. The elemental release from the bituminized waste specimens leached in the KCl was very low, which is likely due to the suppression of swelling of the specimens at high ionic strength. (author)

Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management

Directory of Open Access Journals (Sweden)

Lord Katherine

2013-02-01

Full Text Available Abstract Hyperinsulinism (HI is the leading cause of persistent hypoglycemia in children, which if unrecognized may lead to development delays and permanent neurologic damage. Prompt recognition and appropriate treatment of HI are essential to avoid these sequelae. Major advances have been made over the past two decades in understanding the molecular basis of hyperinsulinism and mutations in nine genes are currently known to cause HI. Inactivating KATP channel mutations cause the most common and severe type of HI, which occurs in both a focal and a diffuse form. Activating mutations of glutamate dehydrogenase (GDH lead to hyperinsulinism/hyperammonemia syndrome, while activating mutations of glucokinase (GK, the “glucose sensor” of the beta cell, causes hyperinsulinism with a variable clinical phenotype. More recently identified genetic causes include mutations in the genes encoding short-chain 3-hydroxyacyl-CoA (SCHAD, uncoupling protein 2 (UCP2, hepatocyte nuclear factor 4-alpha (HNF-4α, hepatocyte nuclear factor 1-alpha (HNF-1α, and monocarboyxlate transporter 1 (MCT-1, which results in a very rare form of HI triggered by exercise. For a timely diagnosis, a critical sample and a glucagon stimulation test should be done when plasma glucose is ATP channel agonist, suggests a KATP defect, which frequently requires pancreatectomy. Surgery is palliative for children with diffuse KATPHI, but children with focal KATPHI are cured with a limited pancreatectomy. Therefore, distinguishing between diffuse and focal disease and localizing the focal lesion in the pancreas are crucial aspects of HI management. Since 2003, 18 F-DOPA PET scans have been used to differentiate diffuse and focal disease and localize focal lesions with higher sensitivity and specificity than more invasive interventional radiology techniques. Hyperinsulinism remains a challenging disorder, but recent advances in the understanding of its genetic basis and breakthroughs in

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

Science.gov (United States)

Tuijnenburg, Paul; Lango Allen, Hana; Burns, Siobhan O; Greene, Daniel; Jansen, Machiel H; Staples, Emily; Stephens, Jonathan; Carss, Keren J; Biasci, Daniele; Baxendale, Helen; Thomas, Moira; Chandra, Anita; Kiani-Alikhan, Sorena; Longhurst, Hilary J; Seneviratne, Suranjith L; Oksenhendler, Eric; Simeoni, Ilenia; de Bree, Godelieve J; Tool, Anton T J; van Leeuwen, Ester M M; Ebberink, Eduard H T M; Meijer, Alexander B; Tuna, Salih; Whitehorn, Deborah; Brown, Matthew; Turro, Ernest; Thrasher, Adrian J; Smith, Kenneth G C; Thaventhiran, James E; Kuijpers, Taco W

2018-03-02

The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource-Rare Diseases cohort. In the predominantly European study population of principally sporadic unrelated PID cases (n = 846), a novel Bayesian method identified nuclear factor κB subunit 1 (NFKB1) as one of the genes most strongly associated with PID, and the association was explained by 16 novel heterozygous truncating, missense, and gene deletion variants. This accounted for 4% of common variable immunodeficiency (CVID) cases (n = 390) in the cohort. Amino acid substitutions predicted to be pathogenic were assessed by means of analysis of structural protein data. Immunophenotyping, immunoblotting, and ex vivo stimulation of lymphocytes determined the functional effects of these variants. Detailed clinical and pedigree information was collected for genotype-phenotype cosegregation analyses. Both sporadic and familial cases demonstrated evidence of the noninfective complications of CVID, including massive lymphadenopathy (24%), unexplained splenomegaly (48%), and autoimmune disease (48%), features prior studies correlated with worse clinical prognosis. Although partial penetrance of clinical symptoms was noted in certain pedigrees, all carriers have a deficiency in B-lymphocyte differentiation. Detailed assessment of B-lymphocyte numbers, phenotype, and function identifies the presence of an increased CD21 low B-cell population. Combined with identification of the disease-causing variant, this distinguishes between healthy subjects, asymptomatic carriers, and clinically affected cases. We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

Forms of phosphorus transfer in runoff under no-tillage in a soil treated with successive swine effluents applications.

Science.gov (United States)

Lourenzi, Cledimar Rogério; Ceretta, Carlos Alberto; Tiecher, Tadeu Luis; Lorensini, Felipe; Cancian, Adriana; Stefanello, Lincon; Girotto, Eduardo; Vieira, Renan Costa Beber; Ferreira, Paulo Ademar Avelar; Brunetto, Gustavo

2015-04-01

Successive swine effluent applications can substantially increase the transfer of phosphorus (P) forms in runoff. The aim of this study was to evaluate P accumulation in the soil and transfer of P forms in surface runoff from a Hapludalf soil under no-tillage subjected to successive swine effluent applications. This research was carried out in the Agricultural Engineering Department of the Federal University of Santa Maria, Brazil, from 2004 to 2007, on a Typic Hapludalf soil. Swine effluent rates of 0, 20, 40, and 80 m3 ha(-1) were broadcast over the soil surface prior to sowing of different species in a crop rotation. Soil samples were collected in stratified layers, and the levels of available P were determined. Samples of water runoff from the soil surface were collected throughout the period, and the available, soluble, particulate, and total P were measured. Successive swine effluent applications led to increases in P availability, especially in the soil surface, and P migration through the soil profile. Transfer of P forms was closely associated with runoff, which is directly related to rainfall volume. Swine effluent applications also reduced surface runoff. These results show that in areas with successive swine effluent applications, practices that promote higher water infiltration into the soil are required, e.g., crop rotation and no-tillage system.

Nonpolynomial vector fields under the Lotka-Volterra normal form

Science.gov (United States)

Hernández-Bermejo, Benito; Fairén, Víctor

1995-02-01

We carry out the generalization of the Lotka-Volterra embedding to flows not explicitly recognizable under the generalized Lotka-Volterra format. The procedure introduces appropriate auxiliary variables, and it is shown how, to a great extent, the final Lotka-Volterra system is independent of their specific definition. Conservation of the topological equivalence during the process is also demonstrated.

17 CFR 239.14 - Form N-2 for closed end management investment companies registered on Form N-8A.

Science.gov (United States)

2010-04-01

... management investment companies registered on Form N-8A. 239.14 Section 239.14 Commodity and Securities... Registration Statements § 239.14 Form N-2 for closed end management investment companies registered on Form N... closed end management investment companies registered under the Investment Company Act of 1940 on form N...

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Science.gov (United States)

Bierzynska, Agnieszka; McCarthy, Hugh J; Soderquest, Katrina; Sen, Ethan S; Colby, Elizabeth; Ding, Wen Y; Nabhan, Marwa M; Kerecuk, Larissa; Hegde, Shivram; Hughes, David; Marks, Stephen; Feather, Sally; Jones, Caroline; Webb, Nicholas J A; Ognjanovic, Milos; Christian, Martin; Gilbert, Rodney D; Sinha, Manish D; Lord, Graham M; Simpson, Michael; Koziell, Ania B; Welsh, Gavin I; Saleem, Moin A

2017-04-01

Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing etiologies with monogenic disease accounting for 2.9-30% in selected series. Using whole exome sequencing we sought to stratify a national population of children with SRNS into monogenic and non-monogenic forms, and further define those groups by detailed phenotypic analysis. Pediatric patients with SRNS were identified via a national United Kingdom Renal Registry. Whole exome sequencing was performed on 187 patients, of which 12% have a positive family history with a focus on the 53 genes currently known to be associated with nephrotic syndrome. Genetic findings were correlated with individual case disease characteristics. Disease causing variants were detected in 26.2% of patients. Most often this occurred in the three most common SRNS-associated genes: NPHS1, NPHS2, and WT1 but also in 14 other genes. The genotype did not always correlate with expected phenotype since mutations in OCRL, COL4A3, and DGKE associated with specific syndromes were detected in patients with isolated renal disease. Analysis by primary/presumed compared with secondary steroid resistance found 30.8% monogenic disease in primary compared with none in secondary SRNS permitting further mechanistic stratification. Genetic SRNS progressed faster to end stage renal failure, with no documented disease recurrence post-transplantation within this cohort. Primary steroid resistance in which no gene mutation was identified had a 47.8% risk of recurrence. In this unbiased pediatric population, whole exome sequencing allowed screening of all current candidate genes. Thus, deep phenotyping combined with whole exome sequencing is an effective tool for early identification of SRNS etiology, yielding an evidence-based algorithm for clinical management. Copyright © 2016 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

Medical Sequencing at the extremes of Human Body Mass

Energy Technology Data Exchange (ETDEWEB)

Ahituv, Nadav; Kavaslar, Nihan; Schackwitz, Wendy; Ustaszewski,Anna; Martin, Joes; Hebert, Sybil; Doelle, Heather; Ersoy, Baran; Kryukov, Gregory; Schmidt, Steffen; Yosef, Nir; Ruppin, Eytan; Sharan,Roded; Vaisse, Christian; Sunyaev, Shamil; Dent, Robert; Cohen, Jonathan; McPherson, Ruth; Pennacchio, Len A.

2006-09-01

Body weight is a quantitative trait with significantheritability in humans. To identify potential genetic contributors tothis phenotype, we resequenced the coding exons and splice junctions of58 genes in 379 obese and 378 lean individuals. Our 96Mb survey included21 genes associated with monogenic forms of obesity in humans or mice, aswell as 37 genes that function in body weight-related pathways. We foundthat the monogenic obesity-associated gene group was enriched for rarenonsynonymous variants unique to the obese (n=46) versus lean (n=26)populations. Computational analysis further predicted a significantlygreater fraction of deleterious variants within the obese cohort.Consistent with the complex inheritance of body weight, we did notobserve obvious familial segregation in the majority of the 28 availablekindreds. Taken together, these data suggest that multiple rare alleleswith variable penetrance contribute to obesity in the population andprovide a deep medical sequencing based approach to detectthem.

[Nutrient Characteristics and Nitrogen Forms of Rhizosphere Soils Under Four Typical Plants in the Littoral Zone of TGR].

Science.gov (United States)

Wang, Xiao-feng; Yuan, Xing-zhong; Liu, Hong; Zhang, Lei; Yu, Jian-jun; Yue, Jun-sheng

2015-10-01

The Three Gorges Reservoir (TGR), which is the largest water conservancy project ever built in tne world, produced a drawdown area of about 348.93 km2 because of water level control. The biological geochemical cycle of the soil in the drawdown zone has been changed as the result of long-term winter flooding and summer drought and vegetation covering. The loss of soil nitrogen in the drawdown zone poses a threat to the water environmental in TGR. Pengxi river, is an important anabranch, which has the largest drawdown area has been selected in the present study. The four typical vegetation, contained Cynodon dactylon, Cyperus rotundus, Anthium sibiricum and Zea mays L. as the control, were studied to measure nutrient characteristics and nitrogen forms of rhizosphere and non-rhizosphere soils in three distribution areas with different soil types (paddy soil, purple soil and fluvo-aquic soils). The variables measured included organic matter (OM), total nitrogen (TN), total phosphorus (TP), total potassium (TK), hydrolysis N, available P and available K, pH, ion-exchangeable N (IEE-N), weak acid extractable N (CF-N) , iron-manganese oxides N (IMOF-N), organic matter sulfide N (OSF-N), added up four N forms for total transferable N (TF-N) and TN minus TF-N for non-transferable N (NTF-N). The results showed: (1) pH of rhizosphere soil was generally lower than that of non-rhizosphere soil under different vegetation in different type soils because the possible organic acid and H+ released form plant roots and cation absorption differences, and the OM, TP, TN and hydrolysis N of rhizosphere soil were generally higher than those of non-rhizosphere soil, and that the enrichment ratio (ER) of all the four nutrient indicators showed Cyperus rotundus > Cynodon dactylon > Zea mays L. > Anthium sibiricum. Available P showed enrichment in the rhizosphere of three natural vegetations but lose under corn, and available K, TK showed different ER in different conditions. (2) IEF-N CF

MAPS Appraisal Report Form

CERN Multimedia

HR Department

2005-01-01

As announced in Weekly Bulletin 48/2004, from now onwards, the paper MAPS appraisal report form has been replaced by an electronic form, which is available via EDH (on the EDH desktop under Other Tasks / HR & Training) No changes have been made to the contents of the form. Practical information will be available on the web page http://cern.ch/ais/projs/forms/maps/info.htm, and information meetings will be held on the following dates: 18 January 2005: MAIN AUDITORIUM (500-1-001) from 14:00 to 15:30. 20 January 2005: AB AUDITORIUM II (864-1-D02) from14:00 to 15:30. 24 January 2005: AT AUDITORIUM (30-7-018) from 10:00 to 11:30. Human Resources Department Tel. 73566

Phosphorus forms and chemistry in the soil profile under long-term conservation tillage: a phosphorus-31 nuclear magnetic resonance study.

Science.gov (United States)

Cade-Menun, Barbara J; Carter, Martin R; James, Dean C; Liu, Corey W

2010-01-01

In many regions, conservation tillage has replaced conventional tilling practices to reduce soil erosion, improve water conservation, and increase soil organic matter. However, tillage can have marked effects on soil properties, specifically nutrient redistribution or stratification in the soil profile. The objective of this research was to examine soil phosphorus (P) forms and concentrations in a long-term study comparing conservation tillage (direct drilling, "No Till") and conventional tillage (moldboard plowing to 20 cm depth, "Till") established on a fine sandy loam (Orthic Humo-Ferric Podzol) in Prince Edward Island, Canada. No significant differences in total carbon (C), total nitrogen (N), total P, or total organic P concentrations were detected between the tillage systems at any depth in the 0- to 60-cm depth range analyzed. However, analysis with phosphorus-31 nuclear magnetic resonance spectroscopy showed differences in P forms in the plow layer. In particular, the concentration of orthophosphate was significantly higher under No Till than Till at 5 to 10 cm, but the reverse was true at 10 to 20 cm. Mehlich 3-extractable P was also significantly higher in No Till at 5 to 10 cm and significantly higher in Till at 20 to 30 cm. This P stratification appears to be caused by a lack of mixing of applied fertilizer in No Till because the same trends were observed for pH and Mehlich 3-extractable Ca (significantly higher in the Till treatment at 20 to 30 cm), reflecting mixing of applied lime. The P saturation ratio was significantly higher under No Till at 0 to 5 cm and exceeded the recommended limits, suggesting that P stratification under No Till had increased the potential for P loss in runoff from these sites.

Disease: H00602 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available osteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension... upregulate Na reabsorption and K secretion. Most individuals have severe hypertension since infancy but mil...iption, gene) ... AUTHORS ... Simonetti GD, Mohaupt MG, Bianchetti MG ... TITLE ... Monogenic forms of hypertension... ... Rosskopf D, Schurks M, Rimmbach C, Schafers R ... TITLE ... Genetics of arterial hypertension and hypotensi

FORM version 4.0

Science.gov (United States)

Kuipers, J.; Ueda, T.; Vermaseren, J. A. M.; Vollinga, J.

2013-05-01

We present version 4.0 of the symbolic manipulation system FORM. The most important new features are manipulation of rational polynomials and the factorization of expressions. Many other new functions and commands are also added; some of them are very general, while others are designed for building specific high level packages, such as one for Gröbner bases. New is also the checkpoint facility, that allows for periodic backups during long calculations. Finally, FORM 4.0 has become available as open source under the GNU General Public License version 3. Program summaryProgram title: FORM. Catalogue identifier: AEOT_v1_0 Program summary URL:http://cpc.cs.qub.ac.uk/summaries/AEOT_v1_0.html Program obtainable from: CPC Program Library, Queen's University, Belfast, N. Ireland Licensing provisions: GNU General Public License, version 3 No. of lines in distributed program, including test data, etc.: 151599 No. of bytes in distributed program, including test data, etc.: 1 078 748 Distribution format: tar.gz Programming language: The FORM language. FORM itself is programmed in a mixture of C and C++. Computer: All. Operating system: UNIX, LINUX, Mac OS, Windows. Classification: 5. Nature of problem: FORM defines a symbolic manipulation language in which the emphasis lies on fast processing of very large formulas. It has been used successfully for many calculations in Quantum Field Theory and mathematics. In speed and size of formulas that can be handled it outperforms other systems typically by an order of magnitude. Special in this version: The version 4.0 contains many new features. Most important are factorization and rational arithmetic. The program has also become open source under the GPL. The code in CPC is for reference. You are encouraged to upload the most recent sources from www.nikhef.nl/form/formcvs.php because of frequent bug fixes. Solution method: See "Nature of Problem", above. Additional comments: NOTE: The code in CPC is for reference. You are encouraged

PKC in motorneurons underlies self-learning, a form of motor learning in Drosophila

Directory of Open Access Journals (Sweden)

Julien Colomb

2016-04-01

Full Text Available Tethering a fly for stationary flight allows for exquisite control of its sensory input, such as visual or olfactory stimuli or a punishing infrared laser beam. A torque meter measures the turning attempts of the tethered fly around its vertical body axis. By punishing, say, left turning attempts (in a homogeneous environment, one can train a fly to restrict its behaviour to right turning attempts. It was recently discovered that this form of operant conditioning (called operant self-learning, may constitute a form of motor learning in Drosophila. Previous work had shown that Protein Kinase C (PKC and the transcription factor dFoxP were specifically involved in self-learning, but not in other forms of learning. These molecules are specifically involved in various forms of motor learning in other animals, such as compulsive biting in Aplysia, song-learning in birds, procedural learning in mice or language acquisition in humans. Here we describe our efforts to decipher which PKC gene is involved in self-learning in Drosophila. We also provide evidence that motorneurons may be one part of the neuronal network modified during self-learning experiments. The collected evidence is reminiscent of one of the simplest, clinically relevant forms of motor learning in humans, operant reflex conditioning, which also relies on motorneuron plasticity.

Tool-life prediction under multi-cycle loading during metal forming: a feasibility study

Directory of Open Access Journals (Sweden)

Hu Yiran

2015-01-01

Full Text Available In the present research, the friction and wear behaviour of a hard coating were studied by using ball-on-disc tests to simulate the wear process of the coated tools for sheet metal forming process. The evolution of the friction coefficient followed a typical dual-plateau pattern, i.e. at the initial stage of sliding, the friction coefficient was relatively low, followed by a sharp increase due to the breakdown of the coatings after a certain number of cyclic dynamic loadings. This phenomenon was caused by the interactive response between the friction and wear from a coating tribo-system, which is often neglected by metal forming researchers, and constant friction coefficient values are normally used in the finite element (FE simulations to represent the complex tribological nature at the contact interfaces. Meanwhile, most of the current FE simulations consider single-cycle loading processes, whereas many metal-forming operations are conducted in a form of multi-cycle loading. Therefore, a novel friction/wear interactive friction model was developed to, simultaneously, characterise the evolutions of friction coefficient and the remaining thickness of the coating layer, to enable the wear life of coated tooling to be predicted. The friction model was then implemented into the FE simulation of a sheet metal forming process for feasibility study.

5 CFR 847.303 - Election forms.

Science.gov (United States)

2010-01-01

... 5 Administrative Personnel 2 2010-01-01 2010-01-01 false Election forms. 847.303 Section 847.303...) ELECTIONS OF RETIREMENT COVERAGE BY CURRENT AND FORMER EMPLOYEES OF NONAPPROPRIATED FUND INSTRUMENTALITIES Procedures for Elections Under the Retroactive Provisions § 847.303 Election forms. (a) Eligible employees...

Closed-Form Algorithm for 3-D Near-Field OFDM Signal Localization under Uniform Circular Array.

Science.gov (United States)

Su, Xiaolong; Liu, Zhen; Chen, Xin; Wei, Xizhang

2018-01-14

Due to its widespread application in communications, radar, etc., the orthogonal frequency division multiplexing (OFDM) signal has become increasingly urgent in the field of localization. Under uniform circular array (UCA) and near-field conditions, this paper presents a closed-form algorithm based on phase difference for estimating the three-dimensional (3-D) location (azimuth angle, elevation angle, and range) of the OFDM signal. In the algorithm, considering that it is difficult to distinguish the frequency of the OFDM signal's subcarriers and the phase-based method is always affected by errors of the frequency estimation, this paper employs sparse representation (SR) to obtain the super-resolution frequencies and the corresponding phases of subcarriers. Further, as the phase differences of the adjacent sensors including azimuth angle, elevation angle and range parameters can be expressed as indefinite equations, the near-field OFDM signal's 3-D location is obtained by employing the least square method, where the phase differences are based on the average of the estimated subcarriers. Finally, the performance of the proposed algorithm is demonstrated by several simulations.

Genomet og diabetes

DEFF Research Database (Denmark)

Allin, Kristine Højgaard; Hansen, Torben; Pedersen, Oluf Borbye

2014-01-01

In terms of their genetic architecture monogenic diabetes and type 2 diabetes represent two extremes. Whereas each subtype of monogenic diabetes is caused by one penetrant, rare mutation in a single gene, the genetic susceptibility to type 2 diabetes can be attributed to many low-penetrant variants...... across the genome. At present, only 10% of the genetic susceptibility to type 2 diabetes can be explained by the hitherto identified 90 genomic loci. Here we briefly review the genetics of monogenic diabetes and type 2 diabetes and outline future directions of research within this field....

Spent fuel as a waste form: Data needs to allow long term performance assessment under repository disposal conditions

International Nuclear Information System (INIS)

Oversby, V.M.

1986-12-01

Performance assessment calculations are required for high level waste repositories for a period of 10,000 years. The Siting Guidelines require a comparison of sites following site characterization and prior to final site selection to be made over a 100,000 year period. To perform the required calculations, a detailed knowledge of the physical and chemical processes that affect waste form performance will be needed for each site. This paper will review the factors that affect the release of radionuclides from spent fuel under repository conditions, summarize our present state of knowledge, and suggest areas where more work is needed to support the performance assessment calculations. 17 refs., 5 figs., 3 tabs

Engineering product storage under the advanced fuel cycle initiative. Part I: An iterative thermal transport modeling scheme for high-heat-generating radioactive storage forms

International Nuclear Information System (INIS)

Kaminski, Michael D.

2005-01-01

The US Department of Energy is developing an integrated nuclear fuel cycle technology under its Advanced Fuel Cycle Initiative (AFCI). Under the AFCI, waste minimization is stressed. Engineered product storage materials will be required to store concentrated radioactive cesium, strontium, americium, and curium for periods of tens to hundreds of years. The fabrication of such engineered products has some precedence but the concept is largely novel. We thus present a theoretical model used to calculate the maximum radial dimensions of right cylinder storage forms under several scenarios. Maximum dimensions are small, comparable to nuclear fuel pins in some cases, to avoid centerline melting temperatures; this highlights the need for a careful strategy for engineered product storage fabrication and storage

Melanocortin 4 receptor mutations in obese Czech children

DEFF Research Database (Denmark)

Hainerová, Irena; Larsen, Lesli H; Holst, Birgitte

2007-01-01

Mutations in the melanocortin 4 receptor gene (MC4R) represent the most common known cause of monogenic human obesity.......Mutations in the melanocortin 4 receptor gene (MC4R) represent the most common known cause of monogenic human obesity....

Obesity in Children: Definition, Etiology and Approach.

Science.gov (United States)

Aggarwal, Bhawana; Jain, Vandana

2018-06-01

Childhood obesity is an important public health issue worldwide. Urbanization, sedentary lifestyle and change in food habits are the chief reasons behind this pandemic. In a small proportion of children, obesity is the result of endocrine, syndromic or monogenic causes. The present paper summarizes the methods, definitions and cut-offs for identification of obesity in children. We have briefly reviewed the various techniques used for estimation of body fat in children and the cut-offs for defining obesity based on body fat percentage, and the reference curves based on body mass index and waist circumference. The etiology of obesity in children, including individual behaviors, macro- and micro-environmental influences, and endocrine causes have been discussed, and an approach to etiological assessment of obese children has been presented. Special emphasis has been laid on clinical pointers that suggest the presence of syndromic, endocrine or monogenic forms of obesity, such as, short stature, dysmorphism, neurocognitive impairment and early age at onset.

Potential of Gene Editing and Induced Pluripotent Stem Cells (iPSCs) in Treatment of Retinal Diseases.

Science.gov (United States)

Chuang, Katherine; Fields, Mark A; Del Priore, Lucian V

2017-12-01

The advent of gene editing has introduced the ability to make changes to the genome of cells, thus allowing for correction of genetic mutations in patients with monogenic diseases. Retinal diseases are particularly suitable for the application of this new technology because many retinal diseases, such as Stargardt disease, retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA), are monogenic. Moreover, gene delivery techniques such as the use of adeno-associated virus (AAV) vectors have been optimized for intraocular use, and phase III trials are well underway to treat LCA, a severe form of inherited retinal degeneration, with gene therapy. This review focuses on the use of gene editing techniques and another relatively recent advent, induced pluripotent stem cells (iPSCs), and their potential for the study and treatment of retinal disease. Investment in these technologies, including overcoming challenges such as off-target mutations and low transplanted cell integration, may allow for future treatment of many debilitating inherited retinal diseases.

Advances in the genetically complex autoinflammatory diseases.

Science.gov (United States)

Ombrello, Michael J

2015-07-01

Monogenic diseases usually demonstrate Mendelian inheritance and are caused by highly penetrant genetic variants of a single gene. In contrast, genetically complex diseases arise from a combination of multiple genetic and environmental factors. The concept of autoinflammation originally emerged from the identification of individual, activating lesions of the innate immune system as the molecular basis of the hereditary periodic fever syndromes. In addition to these rare, monogenic forms of autoinflammation, genetically complex autoinflammatory diseases like the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), Behçet's disease, and systemic arthritis also fulfill the definition of autoinflammatory diseases-namely, the development of apparently unprovoked episodes of inflammation without identifiable exogenous triggers and in the absence of autoimmunity. Interestingly, investigations of these genetically complex autoinflammatory diseases have implicated both innate and adaptive immune abnormalities, blurring the line between autoinflammation and autoimmunity. This reinforces the paradigm of concerted innate and adaptive immune dysfunction leading to genetically complex autoinflammatory phenotypes.

Waste-form development

International Nuclear Information System (INIS)

Neilson, R.M. Jr.; Colombo, P.

1982-01-01

Contemporary solidification agents are being investigated relative to their applications to major fuel cycle and non-fuel cycle low-level waste (LLW) streams. Work is being conducted to determine the range of conditions under which these solidification agents can be applied to specific LLW streams. These studies are directed primarily towards defining operating parameters for both improved solidification of problem wastes and solidification of new LLW streams generated from advanced volume reduction technologies. Work is being conducted to measure relevant waste form properties. These data will be compiled and evaluated to demonstrate compliance with waste form performance and shallow land burial acceptance criteria and transportation requirements

Generalized closed form solutions for feasible dimension limit and pull-in characteristics of nanocantilever under the Influences of van der Waals and Casimir forces

Science.gov (United States)

Mukherjee, Banibrata; Sen, Siddhartha

2018-04-01

This paper presents generalized closed form expressions for determining the dimension limit for the basic design parameters as well as the pull-in characteristics of a nanocantilever beam under the influences of van der Waals and Casimir forces. The coupled nonlinear electromechanical problem of electrostatic nanocantilever is formulated in nondimensional form with Galerkin’s approximation considering the effects of these intermolecular forces and fringe field. The resulting integrals and higher order polynomials are solved numerically to derive the closed form expressions for maximum permissible detachment length, minimum feasible gap spacing and critical pull-in limit. The derived expressions are compared and validated as well with several reported literature showing reasonable agreement. The major advantages of the proposed closed form expressions are that, they do not contain any complex mathematical term or operation unlike in reported literature and thus they will serve as convenient tools for the NEMS community in successful design of various electrostatically actuated nanosystems.

Automorphic Forms and Mock Modular Forms in String Theory

Science.gov (United States)

Nazaroglu, Caner

We study a variety of modular invariant objects in relation to string theory. First, we focus on Jacobi forms over generic rank lattices and Siegel forms that appear in N = 2, D = 4 compactifications of heterotic string with Wilson lines. Constraints from low energy spectrum and modularity are employed to deduce the relevant supersymmetric partition functions entirely. This procedure is applied on models that lead to Jacobi forms of index 3, 4, 5 as well as Jacobi forms over root lattices A2 and A3. These computations are then checked against an explicit orbifold model which can be Higgsed to the models under question. Models with a single Wilson line are then studied in detail with their relation to paramodular group Gammam as T-duality group made explicit. These results on the heterotic string side are then turned into predictions for geometric invariants using TypeII - Heterotic duality. Secondly, we study theta functions for indenite signature lattices of generic signature. Building on results in literature for signature (n-1,1) and (n-2,2) lattices, we work out the properties of generalized error functions which we call r-tuple error functions. We then use these functions to build such indenite theta functions and describe their modular completions.

Genetic basis of endocrine pathology

Directory of Open Access Journals (Sweden)

T.V. Sorokman

2017-05-01

Full Text Available The purpose of the review was analysis of literature data relating to the molecular genetic basis and diagnosis of endocrine pathology. We searched for published and unpublished researches using Pubmed as the search engine by the keywords: ‘genes’, ‘endocrine diseases’, ‘molecular diagnostics’, ‘prohormones’, ‘nuclear receptors and transcription factors’, taking into consideration studies conducted over the last 10 years, citation review of relevant primary and review articles, conference abstracts, personal files, and contact with expert informants. The criterion for the selection of articles for the study was based on their close relevance to the topic, thus out of 144 analyzed articles, the findings of the researchers covered in 32 articles were crucial. The described nosologies presented various heredi­tary forms of hypopituitarism, disturbances of steroid hormone biosynthesis, abnormal gender formation, monogenic forms of diabetes mellitus, endocrine tumors, etc. Pathology is identified that is associated with a mutation of genes encoding protein prohormones, receptors, steroid biosynthesis enzymes, intracellular signaling molecules, transport proteins, ion channels, and transcription factors. Among the endocrine diseases associated with defects in genes encoding protein prohormones, the defects of the GH1 gene are most common, the defects in the gene CYP21A2 (21-hydroxylase are among diseases associated with defects in genes encoding enzymes. More often mutations of genes encoding proteins belong to the class of G-protein coupled receptors. Most of the mutations associated with MEN-2A are concentrated in the rich cysteine region of the Ret receptor. More than 70 monogenic syndromes are known, in which there is a marked tolerance to glucose and some form of diabetes mellitus is diagnosed, diabetes mellitus caused by mutation of the mitochondrial gene (mutation tRNALeu, UUR is also detected. Of all the monogenic forms of

Stability of the spherical form of nuclei

International Nuclear Information System (INIS)

Sabry, A.A.

1976-08-01

An extension of the mass formula for a spherical nucleus in the drop model to include a largely deformed nucleus of different forms is investigated. It is found that although the spherical form is stable under small deformations from equilibrium, there exists for heavier nuclei another more favourable stable form, which can be approximated by two, or three touching prolate ellipsoids of revolution

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

Science.gov (United States)

Althari, Sara; Gloyn, Anna L.

2015-01-01

The genomics revolution has raised more questions than it has provided answers. Big data from large population-scale resequencing studies are increasingly deconstructing classic notions of Mendelian disease genetics, which support a simplistic correlation between mutational severity and phenotypic outcome. The boundaries are being blurred as the body of evidence showing monogenic disease-causing alleles in healthy genomes, and in the genomes of individu-als with increased common complex disease risk, continues to grow. In this review, we focus on the newly emerging challenges which pertain to the interpretation of sequence variants in genes implicated in the pathogenesis of maturity-onset diabetes of the young (MODY), a presumed mono-genic form of diabetes characterized by Mendelian inheritance. These challenges highlight the complexities surrounding the assignments of pathogenicity, in particular to rare protein-alerting variants, and bring to the forefront some profound clinical diagnostic implications. As MODY is both genetically and clinically heterogeneous, an accurate molecular diagnosis and cautious extrapolation of sequence data are critical to effective disease management and treatment. The biological and translational value of sequence information can only be attained by adopting a multitude of confirmatory analyses, which interrogate variant implication in disease from every possible angle. Indeed, studies which have effectively detected rare damaging variants in known MODY genes in normoglycemic individuals question the existence of a sin-gle gene mutation scenario: does monogenic diabetes exist when the genetic culprits of MODY have been systematical-ly identified in individuals without MODY? PMID:27111119

Ideological Manipulation in the Form of Official Censorship: Audiovisual Tie-ins of Bestselling Novels in Spain under Franco

Directory of Open Access Journals (Sweden)

Cristina Gómez Castro

2016-02-01

Full Text Available Whereas technical manipulation in the form of necessary “textual dislocations” (Diaz-Cintas 2012: 284 may be seen as a common object of study in audiovisual translation (AVT, ideological manipulation or a deliberate change from what is said (or shown in the original (ibid still seems to be under developed in the discipline. However, power plays have a lot to say in AVT, as can be illustrated with the repressive forces of censorship at certain times and periods. In the case of Franco’s dictatorship in Spain (1939-1975 and beyond the control of every cultural product which entered the country, both in written or audiovisual form, functioned as an ideological gatekeeper. The last years, however, were marked by a progressive weakening both of the regime and of its censoring mechanism. By then, the massive importation of North American best- selling novels took place, novels which were either commonly filmed afterwards or turned into a TV series, making them famous worldwide. This nurturing from literature of the film industry in the form of tie-ins was a very common synergy at the time, denounced and considered by some as commercial manipulation and social alienation (Carrero Eras 1977. In the present article, the effects of the censoring mechanism on some North American best-selling novels and their film counterparts will be examined, trying to reveal the manoeuvrings at stake and thus contribute to increase the research on the matter and, at the same time see if, the solitary act of reading versus the public broadcasting of a film had a say in the harshness applied to a product derived from the same root.

75 FR 19453 - Reports, Forms and Record Keeping Requirements; Agency Information Collection Activity Under OMB...

Science.gov (United States)

2010-04-14

... basis. Affected Public: Private individuals, fleet owners and lessees, motor vehicle dealers, repair... completed forms to NHTSA within seven days. The submission of the completed forms by the dealers and repair.... The completed forms will enable the agency to determine whether the dealers and repair business are...

Analysis of forming limit in tube hydroforming

International Nuclear Information System (INIS)

Kim, Chan Il; Yang, Seung Hang; Kim, Young Suk

2013-01-01

The automotive industry has shown increasing interest in tube hydroforming. Despite many automobile structural parts being produced from cylindrical tubes, failures frequently occur during tube hydroforming under improper forming conditions. These problems include wrinkling, buckling, folding back, and bursting. We perform analytical studies to determine forming limits in tube hydroforming and demonstrate how these forming limits are influenced by the loading path. Theoretical results for the forming limits of wrinkling and bursting are compared with experimental results for an aluminum tube.

Genetic Counseling for Diabetes Mellitus

Science.gov (United States)

Stein, Stephanie A.; Maloney, Kristin L.; Pollin, Toni I.

2014-01-01

Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2 diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses on providing empiric risk information based on family history and/or the effects of maternal hyperglycemia on pregnancy outcome. An estimated one to five percent of diabetes is monogenic in nature, e.g., maturity onset diabetes of the young (MODY), with molecular testing and etiology-based treatment available. However, recent studies show that most monogenic diabetes is misdiagnosed as T1DM or T2DM. While efforts are underway to increase the rate of diagnosis in the diabetes clinic, genetic counselors and clinical geneticists are in a prime position to identify monogenic cases through targeted questions during a family history combined with working in conjunction with diabetes professionals to diagnose and assure proper treatment and familial risk assessment for individuals with monogenic diabetes. PMID:25045596

A reduced-form intensity-based model under fuzzy environments

Science.gov (United States)

Wu, Liang; Zhuang, Yaming

2015-05-01

The external shocks and internal contagion are the important sources of default events. However, the external shocks and internal contagion effect on the company is not observed, we cannot get the accurate size of the shocks. The information of investors relative to the default process exhibits a certain fuzziness. Therefore, using randomness and fuzziness to study such problems as derivative pricing or default probability has practical needs. But the idea of fuzzifying credit risk models is little exploited, especially in a reduced-form model. This paper proposes a new default intensity model with fuzziness and presents a fuzzy default probability and default loss rate, and puts them into default debt and credit derivative pricing. Finally, the simulation analysis verifies the rationality of the model. Using fuzzy numbers and random analysis one can consider more uncertain sources in the default process of default and investors' subjective judgment on the financial markets in a variety of fuzzy reliability so as to broaden the scope of possible credit spreads.

78 FR 36632 - Reports, Forms, and Recordkeeping Requirements; Agency Information Collection Activity Under OMB...

Science.gov (United States)

2013-06-18

... hand-held phone use. The current project would expand the distracted driving program to focus on..., Department of Transportation, 1200 New Jersey Avenue SE., Washington, DC 20590. Mary Hinch's phone number is... Number: 2127-0665. Title: NHTSA Distracted Driving Survey Project. Form No.: NHTSA Form 1084. Type of...

Waste forms for plutonium disposition

International Nuclear Information System (INIS)

Johnson, S.G.; O'Holleran, T.P.; Frank, S.M.; Meyer, M.K.; Hanson, M.; Staples, B.A.; Knecht, D.A.; Kong, P.C.

1997-01-01

The field of plutonium disposition is varied and of much importance, since the Department of Energy has decided on the hybrid option for disposing of the weapons materials. This consists of either placing the Pu into mixed oxide fuel for reactors or placing the material into a stable waste form such as glass. The waste form used for Pu disposition should exhibit certain qualities: (1) provide for a suitable deterrent to guard against proliferation; (2) be of minimal volume, i.e., maximize the loading; and (3) be reasonably durable under repository-like conditions. This paper will discuss several Pu waste forms that display promising characteristics

Personal Information Request Form

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

PC Forms Inc. 834-4048

To apply for information under the Privacy Act, complete this form or a written request mentioning the Act. Describe the information being sought and provide any relevant details necessary to help the. International Development Research Centre. (IDRC) find it. If you require assistance, refer to. Info Source (Sources of ...

Leaching studies of low-level radioactive waste forms

International Nuclear Information System (INIS)

Dayal, R.; Arora, H.; Clinton, J.C.; Milian, L.

1985-01-01

A research program has been under way at the Brookhaven National Laboratory to investigate the radionuclide release behavior of ion exchange bead resin waste solidified in Portland cement. An important aspect of this program is to develop and evaluate testing procedures and methodologies which enable the long-term performance evaluation of waste forms under simulated field conditions. Cesium and strontium release behavior using a range of testing procedures, including intermittent leachant flow conditions, has been investigated. For cyclic wet/dry leaching tests, extended dry periods tend to enhance the release of Cs and suppress the release of Sr. Under extended wet period leaching conditions, however, both Cs and Sr exhibit suppressed releases. In contrast, radionuclide releases observed under continuously saturated leaching conditions, as represented by conventional leaching tests, are significantly different. The relevance and aplicability of these laboratory data obtained under a wide range of leaching conditions to the performance evaluation of waste forms under anticipated field conditions is discussed. 12 refs., 9 figs., 3 tabs

A Simulation Model on the Competition for Light of Meadow-forming and Canopy-forming Aquatic Macrophytes at High and Low Nutrient Availability

National Research Council Canada - National Science Library

Best, Elly

2004-01-01

A simulation model has been developed that focuses on the ability of two competing submersed macrophytes, meadow-forming and canopy-forming, to maintain their biomass under different environmental conditions...

Waste form development

International Nuclear Information System (INIS)

Neilson, R.M. Jr.; Colombo, P.

1982-01-01

In this program, contemporary solidification agents are being investigated relative to their applications to major fuel cycle and non-fuel cycle low-level waste (LLW) streams. Work is being conducted to determine the range of conditions under which these solidification agents can be applied to specific LLW streams. These studies are directed primarily towards defining operating parameters for both improved solidification of problem wastes and solidification of new LLW streams generated from advanced volume reduction technologies. Work is being conducted to measure relevant waste form properties. These data will be compiled and evaluated to demonstrate compliance with waste form performance and shallow land burial acceptance criteria and transportation requirements (both as they exist and as they are modified with time). 6 tables

1 CFR 8.6 - Forms of publication.

Science.gov (United States)

2010-01-01

... 1 General Provisions 1 2010-01-01 2010-01-01 false Forms of publication. 8.6 Section 8.6 General... FEDERAL REGULATIONS § 8.6 Forms of publication. (a) Under section 1506 of title 44, United States Code, the Administrative Committee authorizes publication of the Code of Federal Regulations in the...

Nonlinear dynamics exploration through normal forms

CERN Document Server

Kahn, Peter B

2014-01-01

Geared toward advanced undergraduates and graduate students, this exposition covers the method of normal forms and its application to ordinary differential equations through perturbation analysis. In addition to its emphasis on the freedom inherent in the normal form expansion, the text features numerous examples of equations, the kind of which are encountered in many areas of science and engineering. The treatment begins with an introduction to the basic concepts underlying the normal forms. Coverage then shifts to an investigation of systems with one degree of freedom that model oscillations

Leaching studies of low-level radioactive waste forms

International Nuclear Information System (INIS)

Dayal, R.; Arora, H.; Milian, L.; Clinton, J.

1985-01-01

A research program has been underway at the Brookhaven National Laboratory to investigate the release of radionuclides from low-level waste forms under laboratory conditions. This paper describes the leaching behavior of Cs-137 from two major low-level waste streams, that is, ion exchange bead resin and boric acid concentrate, solidified in Portland cement. The resultant leach data are employed to evaluate and predict the release behavior of Cs-137 from low-level waste forms under field burial conditions

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

OpenAIRE

Vaags, A.; Bowdin, S.; Smith, M.; Gilbert-Dussardier, B.; Brocke-Holmefjord, K.; Sinopoli, K.; Gilles, C.; Haaland, T.; Vincent-Delorme, C.; Lagrue, E.; Harbuz, R.; Walker, S.; Marshall, C.; Houge, G.; Kalscheuer, V.

2014-01-01

Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studies of less common monogenic forms. We detail the disease caused by absence of the synaptic protein CNKSR2 in 8 patients ranging from 6 to 62 years old. The disease is characterized by intellectual disability, attention problems, and abrupt lifelong...

78 FR 63564 - Proposed Collection; Comment Request for Form 8038-R

Science.gov (United States)

2013-10-24

... 8038-R AGENCY: Internal Revenue Service (IRS), Treasury. ACTION: Notice and request for comments... Form 8038-R, Request for Recovery of Overpayments Under Arbitrage Rebate Provisions. DATES: Written... Rebate Provisions. OMB Number: 1545-1750. Form Number: 8038-R. Abstract: Under Treasury Regulations...

5 CFR 831.2204 - Alternative forms of annuities available.

Science.gov (United States)

2010-01-01

... 5 Administrative Personnel 2 2010-01-01 2010-01-01 false Alternative forms of annuities available... SERVICE REGULATIONS (CONTINUED) RETIREMENT Alternative Forms of Annuities § 831.2204 Alternative forms of annuities available. (a) An employee or Member who is eligible to make an election under § 831.2203 may...

Leaching of radioactive waste forms under saturated and unsaturated flow conditions

International Nuclear Information System (INIS)

Petelka, M.F.

1987-01-01

To predict the environmental impact of shallow land burial sites for radioactive waste, the mobilization and migration of waste nuclides must be estimated. The theoretical understanding that in potential leaching mechanisms leach-rate variations may arise from changes in both moisture content and volumetric flow rate was tested in column flow leach experiments using labeled vermiculite particles as a simulated waste form. As far as possible, conditions of flow rate and solution ion concentration were chosen to roughly approximate expected field conditions. A modified pressure-plate apparatus was developed, tested, and found suitable for the production of steady-state unsaturated conditions with leachate flow. Water content was determined using the gamma-ray attenuation method. The effects of several parameters on leaching were studied, including moisture content and pore velocity. Pore velocity effects were found to be negligible. It was found that the leach rate depends on the fraction of the exposed waste surface that is wetted and varies with the mobile water content in a non-linear fashion. The experimental results indicate that the release rate of radionuclides placed within a properly sited low-level waste disposal site may be two to three times smaller than that predicted assuming saturated conditions. This study was performed using a homogeneous fine-grained synthetic waste form, at room temperature, with a near neutral pH leachant and oxidizing conditions

TS/EL ELECTRICAL WORK REQUEST FORM

CERN Multimedia

TS Department

2008-01-01

To facilitate the processing of requests for minor electrical installation work to be carried out by the TS/EL group, a new procedure designed to improve contacts and exchange of information with customers has been set up. The procedure comprises a check to determine whether the TS/EL or the TS/FM group is responsible for the area where the electrical work is to be done. If the work is to be performed by the EL group, an on-line request form must be completed. The following steps must be completed: On a web browser, use the link http://ts-dep.web.cern.ch/ts-dep/groups/el/el.htm In the left-hand menu choose ‘Demande de Travaux Electriques’ Enter the building number to check which group to contact and click ‘FIND’ If the area is: Under FM’s responsibility:\tCall 77777 Under EL’s responsibility:\tClick the link to the work form, complete it and send it (click ‘ENVOYER’) IMPORTANT This form is for minor electrical installation requests only. Please call 72201 in t...

75 FR 40028 - Proposed Collection; Comment Request for Form 8283-V

Science.gov (United States)

2010-07-13

... Form 8283-V, Payment Voucher for Filing Fee Under Section 170(f)(13). DATES: Written comments should [email protected] . SUPPLEMENTARY INFORMATION: Title: Payment Voucher for Filing Fee Under... deduction is not allowed. Current Actions: There are no changes being made to Form 8283-V. Type of Review...

Dendritic growth forms of borax crystals

International Nuclear Information System (INIS)

Takoo, R.K.; Patel, B.R.; Joshi, M.S.

1983-01-01

A variety of dendritic forms of borax grown from solutions by the film formation method is given. The changing growth morphology is followed as a function of concentration and temperature. The initial, intermediate and final growth morphologies are described and discussed. Influence of evaporation rate and supersaturation on the mechanism of growth is assessed. It is suggested that under all crystallization conditions, borax crystals have dendritic form in the initial stages of growth. (author)

REPARTITION BRANCHIALE DES MONOGENES Gotocotyla ...

African Journals Online (AJOL)

AISA

com. RESUME. La localisation branchiale de Gotocotyla acanthura (Parona et Perugia, 1891) et Pyragraphorus hollisae. (Euzet et Ktari, 1970) parasites de Trachinotus ovatus (L, 1758) de la côte atlantique marocaine de Mehdia dans le cas ...

Durum Wheat (Triticum Durum Desf. Lines Show Different Abilities to Form Masked Mycotoxins under Greenhouse Conditions

Directory of Open Access Journals (Sweden)

Martina Cirlini

2013-12-01

Full Text Available Deoxynivalenol (DON is the most prevalent trichothecene in Europe and its occurrence is associated with infections of Fusarium graminearum and F. culmorum, causal agents of Fusarium head blight (FHB on wheat. Resistance to FHB is a complex character and high variability occurs in the relationship between DON content and FHB incidence. DON conjugation to glucose (DON-3-glucoside, D3G is the primary plant mechanism for resistance towards DON accumulation. Although this mechanism has been already described in bread wheat and barley, no data are reported so far about durum wheat, a key cereal in the pasta production chain. To address this issue, the ability of durum wheat to detoxify and convert deoxynivalenol into D3G was studied under greenhouse controlled conditions. Four durum wheat varieties (Svevo, Claudio, Kofa and Neodur were assessed for DON-D3G conversion; Sumai 3, a bread wheat variety carrying a major QTL for FHB resistance (QFhs.ndsu-3B, was used as a positive control. Data reported hereby clearly demonstrate the ability of durum wheat to convert deoxynivalenol into its conjugated form, D3G.

The prevalence of Wolfram syndrome in a paediatric population with diabetes.

Science.gov (United States)

Zmysłowska, Agnieszka; Borowiec, Maciej; Fendler, Wojciech; Jarosz-Chobot, Przemysława; Myśliwiec, Małgorzata; Szadkowska, Agnieszka; Młynarski, Wojciech

2014-01-01

Wolfram syndrome (WFS) is the most frequent syndromic form of monogenic diabetes coexisting with optic atrophy and many other disorders. The aim of this study was to estimate the prevalence of Wolfram syndrome among children with diabetes in Poland. These calculations were performed among Polish diabetic children, aged 0-18 years, from three administrative regions between January 2005 and December 2011. Epidemiological data was obtained by matching the results from the EURO-WABBPoland Project and the PolPeDiab Registry. Throughout the study period, we confirmed genetic diagnosis of Wolfram syndrome in 13 patients from Poland. Three patients originated from the studied regions with complete epidemiological data on paediatric diabetes. The total number of patients with diagnosed diabetes in the study equalled 2,568 cases. The prevalence of Wolfram syndrome among Polish children with diabetes is 0.12% (95% Confidence Interval 0.04-0.34%). We estimate that Wolfram syndrome is: 26 to 35 times less frequent than monogenic diabetes (MODY and neonatal diabetes) in the Polish paediatric population.

Composite materials formed with anchored nanostructures

Science.gov (United States)

Seals, Roland D; Menchhofer, Paul A; Howe, Jane Y; Wang, Wei

2015-03-10

A method of forming nano-structure composite materials that have a binder material and a nanostructure fiber material is described. A precursor material may be formed using a mixture of at least one metal powder and anchored nanostructure materials. The metal powder mixture may be (a) Ni powder and (b) NiAl powder. The anchored nanostructure materials may comprise (i) NiAl powder as a support material and (ii) carbon nanotubes attached to nanoparticles adjacent to a surface of the support material. The process of forming nano-structure composite materials typically involves sintering the mixture under vacuum in a die. When Ni and NiAl are used in the metal powder mixture Ni.sub.3Al may form as the binder material after sintering. The mixture is sintered until it consolidates to form the nano-structure composite material.

Special Geometry and Automorphic Forms

CERN Document Server

Berglund, P; Wyllard, N; Berglund, Per; Henningson, Mans; Wyllard, Niclas

1997-01-01

We consider special geometry of the vector multiplet moduli space in compactifications of the heterotic string on $K3 \\times T^2$ or the type IIA string on $K3$-fibered Calabi-Yau threefolds. In particular, we construct a modified dilaton that is invariant under $SO(2, n; Z)$ T-duality transformations at the non-perturbative level and regular everywhere on the moduli space. The invariant dilaton, together with a set of other coordinates that transform covariantly under $SO(2, n; Z)$, parameterize the moduli space. The construction involves a meromorphic automorphic function of $SO(2, n; Z)$, that also depends on the invariant dilaton. In the weak coupling limit, the divisor of this automorphic form is an integer linear combination of the rational quadratic divisors where the gauge symmetry is enhanced classically. We also show how the non-perturbative prepotential can be expressed in terms of meromorphic automorphic forms, by expanding a T-duality invariant quantity both in terms of the standard special coord...

Normal form of particle motion under the influence of an ac dipole

Directory of Open Access Journals (Sweden)

R. Tomás

2002-05-01

Full Text Available ac dipoles in accelerators are used to excite coherent betatron oscillations at a drive frequency close to the tune. These beam oscillations may last arbitrarily long and, in principle, there is no significant emittance growth if the ac dipole is adiabatically turned on and off. Therefore the ac dipole seems to be an adequate tool for nonlinear diagnostics provided the particle motion is well described in the presence of the ac dipole and nonlinearities. Normal forms and Lie algebra are powerful tools to study the nonlinear content of an accelerator lattice. In this article a way to obtain the normal form of the Hamiltonian of an accelerator with an ac dipole is described. The particle motion to first order in the nonlinearities is derived using Lie algebra techniques. The dependence of the Hamiltonian terms on the longitudinal coordinate is studied showing that they vary differently depending on the ac dipole parameters. The relation is given between the lines of the Fourier spectrum of the turn-by-turn motion and the Hamiltonian terms.

16S rRNA gene-based molecular analysis of mat-forming and accompanying bacteria covering organically-enriched marine sediments underlying a salmon farm in Southern Chile (Calbuco Island)

OpenAIRE

Aranda, Carlos; Paredes, Javier; Valenzuela, Cristian; Lam, Phyllis; Guillou, Laure

2010-01-01

The mat forming bacteria covering organic matter-enriched and anoxic marine sediments underlying a salmon farm in Southern Chile, were examined using 16S rRNA gene phylogenies. This mat was absent in the sea bed outside the direct influence of the farm (360 m outside fish cages). Based on nearly complete 16S rRNA gene sequences (-1500 bp), mat-forming filamentous cells were settled as the sulphur-oxidizing and putatively dissimilative nitrate-reducing Beggiatoa spp., being closely related (up...

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

Directory of Open Access Journals (Sweden)

Guillem de Valles-Ibáñez

2018-05-01

Full Text Available Common variable immunodeficiency (CVID is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% of cases of CVID have a known underlying genetic cause. We have analyzed whole-exome sequencing and copy number variants data of 36 children and adolescents diagnosed with CVID and healthy relatives to estimate the proportion of monogenic cases. We have replicated an association of CVID to p.C104R in TNFRSF13B and reported the second case of homozygous patient to date. Our results also identify five causative genetic variants in LRBA, CTLA4, NFKB1, and PIK3R1, as well as other very likely causative variants in PRKCD, MAPK8, or DOCK8 among others. We experimentally validate the effect of the LRBA stop-gain mutation which abolishes protein production and downregulates the expression of CTLA4, and of the frameshift indel in CTLA4 producing expression downregulation of the protein. Our results indicate a monogenic origin of at least 15–24% of the CVID cases included in the study. The proportion of monogenic patients seems to be lower in CVID than in other PID that have also been analyzed by whole exome or targeted gene panels sequencing. Regardless of the exact proportion of CVID monogenic cases, other genetic models have to be considered for CVID. We propose that because of its prevalence and other features as intermediate penetrancies and phenotypic variation within families, CVID could fit with other more complex genetic scenarios. In particular, in this work, we explore the possibility of CVID being originated by an oligogenic model with the presence of heterozygous mutations in interacting proteins or by the accumulation of detrimental variants in particular immunological pathways, as well as

An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture.

OpenAIRE

Murgiano Leonardo; Dominik P. Waluk; Rachel Towers; Natalie Wiedemar; Joëlle Dietrich; Vidhya Jagannathan; Michaela Drögemüller; Pierre Balmer; Tom Druet; Arnaud Galichet; M. Cecilia Penedo; Eliane J. Müller; Petra Roosje; Welle Monika; Tosso Leeb

2016-01-01

We investigated a family of horses exhibiting irregular vertical stripes in their hair coat texture along the neck, back, hindquarters, and upper legs. This phenotype is termed "brindle" by horse breeders. We propose the term "brindle 1 (BR1)" for this specific form of brindle. In some BR1 horses, the stripes were also differentially pigmented. Pedigree analyses were suggestive of a monogenic X-chromosomal semidominant mode of inheritance. Haplotype analyses identified a 5 Mb candidate region...

Teaching Form as Form

DEFF Research Database (Denmark)

Keiding, Tina Bering

2012-01-01

understanding of form per se, or, to use an expression from this text, of form as form. This challenge can be reduced to one question: how can design teaching support students in achieving not only the ability to recognize and describe different form-related concepts in existing design (i.e. analytical...

A STUDY ON THE DEGRADATION MECHANISM OF PHOTOCROSSLINKING PRODUCTS FORMED BY CYCLIZED POLYISOPRENE-DIAZIDE SYSTEM UNDER THE INFLUENCE OF ALKYL BENZENE SULFONIC ACIDS

Institute of Scientific and Technical Information of China (English)

HUANG Junlian; SUN Meng

1989-01-01

The degradation mechanism of photocrosslinking products formed by cyclized polyisoprene-diazide system under the influence of the different alkyl benzene sulfonic acids was studied. The effects ofalkyl chain length and the concentration of alkyl benzene sulfonic acids on the rate of degradation reaction were discussed. It was found that in the initial stage of degradation, the cyclicity ratio and the average fused ring number did not change considerably, but the percentage of uncyclized parts content varied significantly. The suitable mechanism was supposed.

Spray Forming Aluminum - Final Report (Phase II)

Energy Technology Data Exchange (ETDEWEB)

D. D. Leon

1999-07-08

The U.S. Department of Energy - Office of Industrial Technology (DOE) has an objective to increase energy efficient and enhance competitiveness of American metals industries. To support this objective, ALCOA Inc. entered into a cooperative program to develop spray forming technology for aluminum. This Phase II of the DOE Spray Forming Program would translate bench scale spray forming technology into a cost effective world class process for commercialization. Developments under DOE Cooperative Agreement No. DE-FC07-94ID13238 occurred during two time periods due to budgetary constraints; April 1994 through September 1996 and October 1997 and December 1998. During these periods, ALCOA Inc developed a linear spray forming nozzle and specific support processes capable of scale-up for commercial production of aluminum sheet alloy products. Emphasis was given to alloys 3003 and 6111, both being commercially significant alloys used in the automotive industry. The report reviews research performed in the following areas: Nozzel Development, Fabrication, Deposition, Metal Characterization, Computer Simulation and Economics. With the formation of a Holding Company, all intellectual property developed in Phases I and II of the Project have been documented under separate cover for licensing to domestic producers.

Characteristics of metal waste forms containing technetium and uranium

Energy Technology Data Exchange (ETDEWEB)

Fortner, J.A.; Kropf, A.J.; Ebert, W.L. [Argonne National Laboratory, Argonne, IL 60439 (United States)

2013-07-01

2 prototype alloys: RAW-1(Tc) and RAW-2(UTc) suitable for a wide range of waste stream compositions are being evaluated to support development of a waste form degradation model that can be used to calculate radionuclide source terms for a range of waste form compositions and disposal environments. Tests and analyses to support formulation of waste forms and development of the degradation model include detailed characterizations of the constituent phases using SEM/EDS and TEM, electrochemical tests to quantify the oxidation behavior and kinetics of the individual and coupled phases under a wide range of environmental conditions, and corrosion tests to measure the gross release kinetics of radionuclides under aggressive test conditions.

Education fees – New forms

CERN Multimedia

2015-01-01

The application forms for the payment of education fees have been updated and are now available in the Admin e-guide (under the “Useful Documents” heading):   Payment of education fees (including language course fees) – AC12A (form to be used by staff members recruited before 1 January 2007, with the exception of former “local staff”).   Payment of education fees – AC12B (form to be used by staff members recruited on or after 1 January 2007, by fellows, scientific associates and guest professors and by former “local staff” whose contracts started before 1 January 2007). The Education Fees service will continue to accept the old forms until the end of the current academic year, i.e. until 31 August 2015. Members of the personnel are reminded that any false declaration or failure to declare information with a view to deceiving others or achieving a gain that would result in a financial loss for CERN or...

45 CFR 234.11 - Assistance in the form of money payments.

Science.gov (United States)

2010-10-01

... 45 Public Welfare 2 2010-10-01 2010-10-01 false Assistance in the form of money payments. 234.11... FINANCIAL ASSISTANCE TO INDIVIDUALS § 234.11 Assistance in the form of money payments. (a) Federal financial participation is available in money payments made under a State plan under title I, IV-A, X, XIV, or XVI of the...

A chromia forming thermal barrier coating system

Energy Technology Data Exchange (ETDEWEB)

Taylor, M.P.; Evans, H.E. [Metallurgy and Materials, The University of Birmingham, Birmingham, B15 2TT (United Kingdom); Gray, S.; Nicholls, J.R. [Surface Science and Engineering Centre, Cranfield University, Cranfield, MK43 0AL (United Kingdom)

2011-07-15

Conventional thermal barrier coating (TBC) systems consist of an insulating ceramic topcoat, a bond coat for oxidation protection and the underlying superalloy designed to combat the oxidising conditions in aero- and land-based gas turbines. Under high-temperature oxidation, the use of an alumina forming bond coat is warranted, thus all current TBC systems are optimised for the early formation of a dense, protective thermally grown oxide (TGO) of alumina. This also offers protection against Type I hot corrosion but a chromia layer gives better protection against Type II corrosion and intermediate temperatures, the conditions found in land-based gas turbines. In this paper the authors present the first known results for a chromia forming TBC system. Tests have been performed under oxidising conditions, up to 1000 h, at temperatures between 750 C and 900 C, and under Type I (900 C) and Type II (700 C) hot corrosion conditions up to 500 h. Under all these conditions no cracking, spallation or degradation was observed. Examination showed the formation of an adherent, dense chromia TGO at the bond coat / topcoat interface. These initial results are very encouraging and the TGO thicknesses agree well with comparable results reported in the literature. (Copyright copyright 2011 WILEY-VCH Verlag GmbH and Co. KGaA, Weinheim)

XPS investigations of tribofilms formed on CrN coatings

Energy Technology Data Exchange (ETDEWEB)

Mandrino, Djordje, E-mail: djordje.mandrino@imt.si; Podgornik, Bojan

2017-02-28

Highlights: • Formation of tribofilms from lubricant additives on CrN surfaces during tribological contact confirmed by XPS. • Chemistry & chemical state of tribofilms obtained by XPS. • Thin sulphate film forms at the top of sulphide tribofilm. • Final type of sulphide in tribolayer depends on additive chemistry and testing temperature. - Abstract: Action of lubrication additives in the case of uncoated steel surfaces, including the type and mechanism of tribofilm formation is well known and understood. However, contact type of tribofilms which might form under the tribological contact between CrN coated surfaces, remains more or less unexplored. The aim of this investigation was to study the type of tribofilms formed on the CrN coated steel samples subjected to lubricated reciprocating sliding contact under different contact conditions Contact surface and tribofilms formed were studied by X-ray Photoelectron Spectroscopy (XPS). Sample surfaces were first imaged by Scanning Electron Microscopy (SEM) to determine areas of tribofilm formation as well as areas not affected by tribological contact. In these areas survey and high resolution (HR) XPS measurements were performed to obtain information about surface chemistry and oxidation states of the constituent elements. It was found that differences between different samples, observed by the XPS measurements, may reflect differences in chemistry of tribofilms formed under different contact conditions.

Monogenic and chromosomal causes of isolated speech and language impairment.

Science.gov (United States)

Barnett, C P; van Bon, B W M

2015-11-01

The importance of a precise molecular diagnosis for children with intellectual disability, autism spectrum disorder and epilepsy has become widely accepted and genetic testing is an integral part of the diagnostic evaluation of these children. In contrast, children with an isolated speech or language disorder are not often genetically evaluated, despite recent evidence supporting a role for genetic factors in the aetiology of these disorders. Several chromosomal copy number variants and single gene disorders associated with abnormalities of speech and language have been identified. Individuals without a precise genetic diagnosis will not receive optimal management including interventions such as early testosterone replacement in Klinefelter syndrome, otorhinolaryngological and audiometric evaluation in 22q11.2 deletion syndrome, cardiovascular surveillance in 7q11.23 duplications and early dietary management to prevent obesity in proximal 16p11.2 deletions. This review summarises the clinical features, aetiology and management options of known chromosomal and single gene disorders that are associated with speech and language pathology in the setting of normal or only mildly impaired cognitive function. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Lithologic Control on the Form of Soil Mantled Hillslopes

Science.gov (United States)

Johnstone, S. A.; Hilley, G. E.

2014-12-01

Slopes on steady-state soil-mantled hillslopes tend to increase downslope in a way that balances local transport capacity with the sediment supplied from progressively larger source areas. Most predictions for the transport of soil depend purely on topographic slope and constants. Thus, soil mantled topography should evolve toward smooth forms in which soils act to buffer these forms from the underlying geologic structure. However, in the Gabilan Mesa, CA, oscillations in the slope of soil-mantled hillslopes mirror oscillations in the underlying stratigraphy. Using field measurements of stratigraphy and soil depths, topographic analysis, and numerical modeling, we demonstrate that variations in rock type can impact the form of soil-mantled hillslopes. Specifically, variations in the properties of underlying rocks may yield different soil thicknesses. Balancing transport rates across these variations in thickness requires slopes to change when soil transport depends on both soil thickness and slope. A compilation of published data on the variation in activity with depth of various transport processes provides the basis for a geomorphic transport law (GTL) that generalizes the depth dependence of various transport processes. While this GTL is explicitly depth dependent, it is also capable of describing situations in which hillslope transport is relatively insensitive to variations in thickness and therefore essentially equivalent to existing formulations. We use dimensional analysis and numerical modeling to demonstrate the conditions under which transport on soil mantled slopes, and consequently topographic forms, may be sensitive to variations in soil thickness and therefore lithology.

Radionuclide Retention in Concrete Waste Forms

Energy Technology Data Exchange (ETDEWEB)

Mattigod, Shas V.; Bovaird, Chase C.; Wellman, Dawn M.; Wood, Marcus I.

2010-09-30

Assessing long-term performance of Category 3 waste cement grouts for radionuclide encasement requires knowledge of the radionuclide-cement interactions and mechanisms of retention (i.e., sorption or precipitation); the mechanism of contaminant release; the significance of contaminant release pathways; how waste form performance is affected by the full range of environmental conditions within the disposal facility; the process of waste form aging under conditions that are representative of processes occurring in response to changing environmental conditions within the disposal facility; the effect of waste form aging on chemical, physical, and radiological properties; and the associated impact on contaminant release. This knowledge will enable accurate prediction of radionuclide fate when the waste forms come in contact with groundwater. The information presented in the report provides data that 1) quantify radionuclide retention within concrete waste form materials similar to those used to encapsulate waste in the Low-Level Waste Burial Grounds (LLBG); 2) measure the effect of concrete waste form properties likely to influence radionuclide migration; and 3) quantify the stability of uranium-bearing solid phases of limited solubility in concrete.

Ledige seniorer - en kvalitativ undersøgelse

DEFF Research Database (Denmark)

Luccat, Dorte

Denne undersøgelse har til formål at afdække ledige seniorers oplevelse af at være ledig samt deres ønske om at vende tilbage til arbejdsmarkedet. Desuden er formålet at belyse, hvilke barrierer eller potentialer, der – set med de interviewedes øjne – eksisterer for de ledige seniorer i forhold til...... at komme ud på arbejdsmarkedet igen. Undersøgelsen er kvalitativ og resultaterne heraf er tiltænkt som et supplement til en kvantitativ undersøgelse af ledige seniorer, jf. Larsen og Miiller (2006a) med det formål at nuancere og uddybe nogle af de kvantitative resultater. I sidstnævnte undersøgelse stammer...... data fra Danmarks Statistik. Dette arbejdspapir indgår endvidere som en del af en større undersøgelse om ”Fastholdelse og rekruttering af seniorer”, som desuden består af såvel en kvantitativ som en kvalitativ virksomhedsundersøgelse, se Larsen og Miiller (2006b) og Luccat (2005). Disse undersøgelser...

Performance of borosilicate glass, Synroc and spent fuel as nuclear waste forms

International Nuclear Information System (INIS)

Lutze, W.; Grambow, B.; Ewing, R.C.

1990-01-01

Presently, there are three prominent waste forms under consideration for the disposal of high-level waste: Borosilicate glass and Synroc for high-level radioactive waste from fuel reprocessing and spent fuel as the waste form for non-reprocessed fuel. Using the present experimental data base, one may compare the performance of these three waste forms under repository relevant conditions. In low water flow regimes and at temperatures less than 100 degree C, the fractional release rates of all three waste forms are low, on the order of 10-7/d or less and may decrease with time. Under these conditions the three waste forms behave similarly. At elevated temperatures or in high flow regimes, the durability of borosilicate glass will be much less than that of Synroc, and thus, for certain disposal schemes (e.g., deep burial) Synroc is preferable. All predictions of the long-term behavior are based on the extrapolation of short term experimental data, we point out that appropriate and useful natural analogues are available for each of these waste forms and should be used in the performance assessment of each waste form's long-term behavior. 14 refs

Re-modeling Chara action potential: II. The action potential form under salinity stress

Directory of Open Access Journals (Sweden)

Mary Jane Beilby

2017-04-01

Full Text Available In part I we established Thiel-Beilby model of the Chara action potential (AP. In part II the AP is investigated in detail at the time of saline stress. Even very short exposure of salt-sensitive Chara cells to artificial pond water with 50 mM NaCl (Saline APW modified the AP threshold and drastically altered the AP form. Detailed modeling of 14 saline APs from 3 cells established that both the Ca2+ pump and the Ca2+ channels on internal stores seem to be affected, with the changes sometimes cancelling and sometimes re-enforcing each other, leading to APs with long durations and very complex forms. The exposure to salinity offers further insights into AP mechanism and suggests future experiments. The prolonged APs lead to greater loss of chloride and potassium ions, compounding the effects of saline stress.

Genetika MODY diabetu

OpenAIRE

Dušátková, Petra

2012-01-01

The most common form of monogenic diabetes is MODY (Maturity-Onset Diabetes of the Young). It ranks among genetic defects of the β cell. It is clinically heterogenous group of disorders characterised with non insulin-dependent diabetes mellitus with autosomal dominant inheritance and age at diagnosis up to 40 years. We specified the diagnosis of MODY in more than 240 Czech families using molecular-genetic approach. The most common subtype of MODY is GCK-MODY which was proved in 376 subjects f...

Příprava a charakterizace GlnB22-insulinu, mutantu přirozeně se vyskytujícího u diabetických pacientů

OpenAIRE

Křížková, Květoslava

2012-01-01

Diabetes mellitus is a widespread disease which can be diagnosed in all age groups from newborns to seniors. Diabetes has multiple causes. The final disorder of blood glucose regulation is caused by a complex of factors and agents, in many cases by genetic defects connected with an unhealthy lifestyle. Moreover, a recently discovered form of diabetes, referred to as the monogenic diabetes, results from a gene mutation whereby only a single gene defect causes the onset of disease. The gene enc...

17 CFR 249.331 - Form N-CSR, certified shareholder report.

Science.gov (United States)

2010-04-01

... 17 Commodity and Securities Exchanges 3 2010-04-01 2010-04-01 false Form N-CSR, certified... Required Under Sections 13 and 15(d) of the Securities Exchange Act of 1934 § 249.331 Form N-CSR, certified shareholder report. This form shall be used by registered management investment companies to file reports...

Projections of Ocean Acidification Under the U.N. Framework Convention of Climate Change Using a Reduced-Form Climate Carbon-Cycle Model

Science.gov (United States)

Hartin, C.

2016-02-01

Ocean chemistry is quickly changing in response to continued anthropogenic emissions of carbon to the atmosphere. Mean surface ocean pH has already decreased by 0.1 units relative to the preindustrial era. We use an open-source, simple climate and carbon cycle model ("Hector") to investigate future changes in ocean acidification (pH and calcium carbonate saturations) under the climate agreement from the United Nations Convention on Climate Change Conference (UNFCCC) of Parties in Paris 2015 (COP 21). Hector is a reduced-form, very fast-executing model that can emulate the global mean climate of the CMIP5 models, as well as the inorganic carbon cycle in the upper ocean, allowing us to investigate future changes in ocean acidification. We ran Hector under three different emissions trajectories, using a sensitivity analysis approach to quantify model uncertainty and capture a range of possible ocean acidification changes. The first trajectory is a business-as-usual scenario comparable to a Representative Concentration Pathway (RCP) 8.5, the second a scenario with the COP 21 commitments enacted, and the third an idealized scenario keeping global temperature change to 2°C, comparable to a RCP 2.6. Preliminary results suggest that under the COP 21 agreements ocean pH at 2100 will decrease by 0.2 units and surface saturations of aragonite (calcite) will decrease by 0.9 (1.4) units relative to 1850. Under the COP 21 agreement the world's oceans will be committed to a degree of ocean acidification, however, these changes may be within the range of natural variability evident in some paleo records.

Vanadium dioxide formed by the sol-gel process

International Nuclear Information System (INIS)

Potember, R.S.; Speck, K.R.; Hu, H.S.

1990-01-01

This patent describes a process for the deposition of a crystalline vanadium dioxide thin film. It comprises: providing a solution comprising a vanadium tetraalkoxide and solvent; allowing hydrolysis and condensation reactions to progressively form a homogeneous sol from the solution, applying a coating of the sol to the substrate; allowing a gel to form from the sol on the substrate by evaporating the solvent; dehydrating the gel by heat treatment under an inert atmosphere to form the crystalline vanadium dioxide film

Cellular and Molecular Defects Underlying Invasive Fungal Infections—Revelations from Endemic Mycoses

Directory of Open Access Journals (Sweden)

Pamela P. Lee

2017-06-01

Full Text Available The global burden of fungal diseases has been increasing, as a result of the expanding number of susceptible individuals including people living with human immunodeficiency virus (HIV, hematopoietic stem cell or organ transplant recipients, patients with malignancies or immunological conditions receiving immunosuppressive treatment, premature neonates, and the elderly. Opportunistic fungal pathogens such as Aspergillus, Candida, Cryptococcus, Rhizopus, and Pneumocystis jiroveci are distributed worldwide and constitute the majority of invasive fungal infections (IFIs. Dimorphic fungi such as Histoplasma capsulatum, Coccidioides spp., Paracoccidioides spp., Blastomyces dermatiditis, Sporothrix schenckii, Talaromyces (Penicillium marneffei, and Emmonsia spp. are geographically restricted to their respective habitats and cause endemic mycoses. Disseminated histoplasmosis, coccidioidomycosis, and T. marneffei infection are recognized as acquired immunodeficiency syndrome (AIDS-defining conditions, while the rest also cause high rate of morbidities and mortalities in patients with HIV infection and other immunocompromised conditions. In the past decade, a growing number of monogenic immunodeficiency disorders causing increased susceptibility to fungal infections have been discovered. In particular, defects of the IL-12/IFN-γ pathway and T-helper 17-mediated response are associated with increased susceptibility to endemic mycoses. In this review, we put together the various forms of endemic mycoses on the map and take a journey around the world to examine how cellular and molecular defects of the immune system predispose to invasive endemic fungal infections, including primary immunodeficiencies, individuals with autoantibodies against interferon-γ, and those receiving biologic response modifiers. Though rare, these conditions provide importance insights to host defense mechanisms against endemic fungi, which can only be appreciated in unique

Hadron collisions and the fifth form factor

International Nuclear Information System (INIS)

Dokshitzer, Yu.L.; Marchesini, G.

2005-01-01

Logarithmically enhanced effects due to radiation of soft gluons at large angles in 2->2 QCD scattering processes are treated in terms of the ''fifth form factor'' that accompanies the four collinear singular Sudakov form factors attached to incoming and outgoing hard partons. Unexpected symmetry under exchange of internal and external variables of the problem is pointed out for the anomalous dimension that governs soft gluon effects in hard gluon-gluon scattering

37 CFR 360.22 - Form and content of claims.

Science.gov (United States)

2010-07-01

.... 360.22 Section 360.22 Patents, Trademarks, and Copyrights COPYRIGHT ROYALTY BOARD, LIBRARY OF CONGRESS SUBMISSION OF ROYALTY CLAIMS FILING OF CLAIMS TO ROYALTY FEES COLLECTED UNDER COMPULSORY LICENSE Digital Audio Recording Devices and Media Royalty Claims § 360.22 Form and content of claims. (a) Forms. (1...

29 CFR 1905.7 - Form of documents; subscription; copies.

Science.gov (United States)

2010-07-01

... UNDER THE WILLIAMS-STEIGER OCCUPATIONAL SAFETY AND HEALTH ACT OF 1970 General § 1905.7 Form of documents... 29 Labor 5 2010-07-01 2010-07-01 false Form of documents; subscription; copies. 1905.7 Section 1905.7 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION...

A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).

Science.gov (United States)

Russell, Mark A; Pigors, Manuela; Houssen, Maha E; Manson, Ania; Kelsell, David; Longhurst, Hilary; Morgan, Noel G

2018-02-01

Common variable immunodeficiency (CVID) is characterised by repeated infection associated with primary acquired hypogammaglobulinemia. CVID frequently has a complex aetiology but, in certain cases, it has a monogenic cause. Recently, variants within the gene encoding the transcription factor STAT3 were implicated in monogenic CVID. Here, we describe a patient presenting with symptoms synonymous with CVID, who displayed reduced levels of IgG and IgA, repeated viral infections and multiple additional co-morbidities. Whole-exome sequencing revealed a de novo novel missense mutation in the coiled-coil domain of STAT3 (c.870A>T; p.K290N). Accordingly, the K290N variant of STAT3 was generated, and a STAT3 responsive dual-luciferase reporter assay revealed that the variant strongly enhances STAT3 transcriptional activity both under basal and stimulated (with IL-6) conditions. Overall, these data complement earlier studies in which CVID-associated STAT3 mutations are predicted to enhance transcriptional activity, suggesting that such patients may respond favourably to IL-6 receptor antagonists (e.g. tocilizumab). Copyright © 2017 Elsevier Inc. All rights reserved.

Standard forms and entanglement engineering of multimode Gaussian states under local operations

International Nuclear Information System (INIS)

Serafini, Alessio; Adesso, Gerardo

2007-01-01

We investigate the action of local unitary operations on multimode (pure or mixed) Gaussian states and single out the minimal number of locally invariant parameters which completely characterize the covariance matrix of such states. For pure Gaussian states, central resources for continuous-variable quantum information, we investigate separately the parameter reduction due to the additional constraint of global purity, and the one following by the local-unitary freedom. Counting arguments and insights from the phase-space Schmidt decomposition and in general from the framework of symplectic analysis, accompany our description of the standard form of pure n-mode Gaussian states. In particular, we clarify why only in pure states with n ≤ 3 modes all the direct correlations between position and momentum operators can be set to zero by local unitary operations. For any n, the emerging minimal set of parameters contains complete information about all forms of entanglement in the corresponding states. An efficient state engineering scheme (able to encode direct correlations between position and momentum operators as well) is proposed to produce entangled multimode Gaussian resources, its number of optical elements matching the minimal number of locally invariant degrees of freedom of general pure n-mode Gaussian states. Finally, we demonstrate that so-called 'block-diagonal' Gaussian states, without direct correlations between position and momentum, are systematically less entangled, on average, than arbitrary pure Gaussian states

21-Year-Old Pregnant Woman with MODY-5 Diabetes

Directory of Open Access Journals (Sweden)

Anastasia Mikuscheva

2017-01-01

Full Text Available The term “Maturity-Onset Diabetes of the Young” (MODY was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies. Correct diagnosis of monogenic diabetes has implications on managing patients and their families. We are reporting a case of a 21-year-old pregnant woman with a bicornuate uterus, fetal renal anomalies, and a family history of diabetes that were suggestive of a MODY-5 diabetes.

Sizes of particles formed during municipal wastewater treatment.

Science.gov (United States)

Lech, Smoczynski; Marta, Kosobucka; Michal, Smoczynski; Harsha, Ratnaweera; Krystyna, Pieczulis-Smoczynska

2017-02-01

Volumetric diameters Dv and specific surface area SpS of sludge particles formed during chemical coagulation and electrocoagulation of sewage were determined. The obtained aggregate-flocs differed substantially in both Dv and SpS values. The differences in Dv and SpS values of the analyzed particles were interpreted based on theoretical models for expanding aggregates. The most uniform particles were formed under exposure to: (a) optimal and maximal doses of PIX, (b) optimal doses of PAX, (c) maximal doses of the Al electro-coagulant. The lowest PIX dose produced the least uniform particles. Sludge aggregates-particles produced under exposure to minimal doses of PIX and the Al electro-coagulant were characterized by the lowest SpS values. Sludge particles coagulated by PAX and the particles formed at higher doses of PIX and the Al electro-coagulant had higher SpS values. The particles formed at all doses of the applied coagulants and electro-coagulants were generally classified into two size ranges: the main range and the secondary range. Most particles belonged to the main size range. An increase in the percentage of colloidal hydroxide particles in sewage sludge increased SpS.

Formability models for warm sheet metal forming analysis

Science.gov (United States)

Jiang, Sen

Several closed form models for the prediction of strain space sheet metal formability as a function of temperature and strain rate are proposed. The proposed models require only failure strain information from the uniaxial tension test at an elevated temperature setting and failure strain information from the traditionally defined strain space forming limit diagram at room temperature, thereby featuring the advantage of offering a full forming limit description without having to carry out expensive experimental studies for multiple modes of deformation under the elevated temperature. The Power law, Voce, and Johnson-Cook hardening models are considered along with the yield criterions of Hill's 48 and Logan-Hosford yield criteria. Acceptable correlations between the theory and experiment are reported for all the models under a plane strain condition. Among all the proposed models, the model featuring Johnson-Cook hardening model and Logan-Hosford yield behavior (LHJC model) was shown to best correlate with experiment. The sensitivity of the model with respect to various forming parameters is discussed. This work is significant to those aiming to incorporate closed-form formability models directly into numerical simulation programs for the purpose of design and analysis of products manufactured through the warm sheet metal forming process. An improvement based upon Swift's diffuse necking theory, is suggested in order to enhance the reliability of the model for biaxial stretch conditions. Theory relating to this improvement is provided in Appendix B.

Hybrids and glueballs: new forms of matter

International Nuclear Information System (INIS)

Close, F.

1983-01-01

Theories of the forces that bind together the atomic nucleus predict the existence of exotic forms of matter, dubbed ''glueballs'' and ''hybrids''. The underlying story illustrates progress in science through the agencies of analogy and paradox. (author)

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To apply for information under the Access to. Information Act, complete this form or a written request mentioning the Act. Describe the information being sought and provide any relevant details necessary to help the International. Development Research Centre (IDRC) find it. If you require assistance, refer to Info Source.

Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations.

Science.gov (United States)

Aykut, Ayça; Karaca, Emin; Onay, Hüseyin; Gökşen, Damla; Çetinkalp, Şevki; Eren, Erdal; Ersoy, Betül; Çakır, Esra Papatya; Büyükinan, Muammer; Kara, Cengiz; Anık, Ahmet; Kırel, Birgül; Özen, Samim; Atik, Tahir; Darcan, Şükran; Özkınay, Ferda

2018-01-30

Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients. Mutations in the GCK gene were identified in 79 out of 177. All mutant alleles were identified, including 45 different GCK mutations, 20 of which were novel. Copyright © 2017. Published by Elsevier B.V.

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2010-07-01

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Heterogeneous Seeding of a Prion Structure by a Generic Amyloid Form of the Fungal Prion-forming Domain HET-s(218-289)

Energy Technology Data Exchange (ETDEWEB)

Wan, William; Bian, Wen; McDonald, Michele; Kijac, Aleksandra; Wemmer, David E.; Stubbs, Gerald [UCB; (Vanderbilt); (LBNL)

2013-11-13

The fungal prion-forming domain HET-s(218–289) forms infectious amyloid fibrils at physiological pH that were shown by solid-state NMR to be assemblies of a two-rung β-solenoid structure. Under acidic conditions, HET-s(218–289) has been shown to form amyloid fibrils that have very low infectivity in vivo, but structural information about these fibrils has been very limited. We show by x-ray fiber diffraction that the HET-s(218–289) fibrils formed under acidic conditions have a stacked β-sheet architecture commonly found in short amyloidogenic peptides and denatured protein aggregates. At physiological pH, stacked β-sheet fibrils nucleate the formation of the infectious β-solenoid prions in a process of heterogeneous seeding, but do so with kinetic profiles distinct from those of spontaneous or homogeneous (seeded with infectious β-solenoid fibrils) fibrillization. Several serial passages of stacked β-sheet-seeded solutions lead to fibrillization kinetics similar to homogeneously seeded solutions. Our results directly show that structural mutation can occur between substantially different amyloid architectures, lending credence to the suggestion that the processes of strain adaptation and crossing species barriers are facilitated by structural mutation.

Lubricant Test Methods for Sheet Metal Forming

DEFF Research Database (Denmark)

Bay, Niels; Olsson, David Dam; Andreasen, Jan Lasson

2008-01-01

appearing in different sheet forming operations such as stretch forming, deep drawing, ironing and punching. The laboratory tests have been especially designed to model the conditions in industrial production. Application of the tests for evaluating new lubricants before introducing them in production has......Sheet metal forming of tribologically difficult materials such as stainless steel, Al-alloys and Ti-alloys or forming in tribologically difficult operations like ironing, punching or deep drawing of thick plate requires often use of environmentally hazardous lubricants such as chlorinated paraffin...... oils in order to avoid galling. The present paper describes a systematic research in the development of new, environmentally harmless lubricants focusing on the lubricant testing aspects. A system of laboratory tests has been developed to study the lubricant performance under the very varied conditions...

Laksene i Skjern å er truet af "laksedræberen" - men østersølaksen skal nok klare sig

DEFF Research Database (Denmark)

Buchmann, Kurt

2007-01-01

Der gives en gennemgang af den nyeste forskning vedr. laksen modtagelighed over for den monogene parasit Gyrodactylus salaris. Specielt er den danske laks meget modtagelig. Mekanismerne bag resistens/modtagelighed gennemgås. Udgivelsesdato: 19. januar......Der gives en gennemgang af den nyeste forskning vedr. laksen modtagelighed over for den monogene parasit Gyrodactylus salaris. Specielt er den danske laks meget modtagelig. Mekanismerne bag resistens/modtagelighed gennemgås. Udgivelsesdato: 19. januar...

Diffusion from cylindrical waste forms

International Nuclear Information System (INIS)

Thomas, G.F.

1985-05-01

The diffusion of a single component material from a finite cylindrical waste form, initially containing a uniform concentration of the material, is investigated. Under the condition that the cylinder is maintained in a well-stirred bath, expressions for the fractional inventory leached and the leach rate are derived with allowance for the possible permanent immobilization of the diffusant through its decay to a stable product and/or its irreversible reaction with the waste form matrix. The usefulness of the reported results in nuclear waste disposal applications is emphasized. The results reported herein are related to those previously derived at Oak Ridge National Laboratory by Bell and Nestor. A numerical scheme involving the partial decoupling of nested infinite summations and the use of rapidly converging rational approximants is recommended for the efficient implementation of the expressions derived to obtain reliable estimates of the bulk diffusion constant and the rate constant describing the diffusant-waste form interaction from laboratory data

Mitochondrial disease and endocrine dysfunction.

Science.gov (United States)

Chow, Jasmine; Rahman, Joyeeta; Achermann, John C; Dattani, Mehul T; Rahman, Shamima

2017-02-01

Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking. Mitochondrial diseases are multisystem disorders that feature defective oxidative phosphorylation, and are characterized by enormous clinical, biochemical and genetic heterogeneity. To date, mitochondrial diseases have been found to result from >250 monogenic defects encoded across two genomes: the nuclear genome and the ancient circular mitochondrial genome located within mitochondria themselves. Endocrine dysfunction is often observed in genetic mitochondrial diseases and reflects decreased intracellular production or extracellular secretion of hormones. Diabetes mellitus is the most frequently described endocrine disturbance in patients with inherited mitochondrial diseases, but other endocrine manifestations in these patients can include growth hormone deficiency, hypogonadism, adrenal dysfunction, hypoparathyroidism and thyroid disease. Although mitochondrial endocrine dysfunction frequently occurs in the context of multisystem disease, some mitochondrial disorders are characterized by isolated endocrine involvement. Furthermore, additional monogenic mitochondrial endocrine diseases are anticipated to be revealed by the application of genome-wide next-generation sequencing approaches in the future. Understanding the mitochondrial basis of endocrine disturbance is key to developing innovative therapies for patients with mitochondrial diseases.

Comparison of the leachability of three TRU cement waste forms

International Nuclear Information System (INIS)

Ross, W.A.; Westsik, J.H. Jr.; Roberts, F.P.; Harvey, C.O.

1982-11-01

Cement waste forms prepared by three processes, casting, cold pressing, and FUETAP (Formed Under Elevated Temperatures and Pressure) have been compared for their leachability by using the MCC-1 leach test. The results indicate that releases of plutonium are not controlled by the waste form matrix and that there is no significant overall advantage to any of the three cement processes from a leachability viewpoint

Rust formed on cannons of XVIII century under two environment conditions

International Nuclear Information System (INIS)

Cindra Fonseca, M.P.; Bastos, I.N.; Caytuero, A.; Baggio Saitovitch, E.M.

2007-01-01

The corrosion products of two ancient cannons exposed to atmospheric corrosion were analysed by X-ray powder diffraction, transmission Moessbauer spectroscopy and scanning electron microscopy (SEM). After almost three centuries exposed in marine environment one of them was moved to a rural region and was maintained in this environment for approximately 30 years. The inland region has an altitude of 1000 m above sea level and consequently low aggressiveness. The studied rusts were obtained from external and internal surfaces of the cannon barrels. This investigation, using three different techniques, was done to check if the relatively short time (ca. 30 years) in rural area was sufficient to change the characteristics of the thick rust formed during long time exposure (ca. 300 years) in marine atmosphere. The time-environment effects change the physical nature of rust, mainly observed by Moessbauer spectroscopy results

Predictive value of testing for multiple genetic variants in multifactorial diseases: implications for the discourse on ethical, legal and social issues

Directory of Open Access Journals (Sweden)

A. Cecile J.W. Janssens

2006-12-01

Full Text Available Multifactorial diseases such as type 2 diabetes, osteoporosis, and cardiovascular disease are caused by a complex interplay of many genetic and nongenetic factors, each of which conveys a minor increase in the risk of disease. Unraveling the genetic origins of these diseases is expected to lead to individualized medicine, in which the prevention and treatment strategies are personalized on the basis of the results of predictive genetic tests. This great optimism is counterbalanced by concerns about the ethical, legal, and social implications of genomic medicine, such as the protection of privacy and autonomy, stigmatization, discrimination, and the psychological burden of genetic testing. These concerns are translated from genetic testing in monogenic disorders, but this translation may not be appropriate. Multiple genetic testing (genomic profiling has essential differences from genetic testing in monogenic disorders. The differences lie in the lower predictive value of the test results, the pleiotropic effects of susceptibility genes, and the low inheritance of genomic profiles. For these reasons, genomic profiling may be more similar to nongenetic tests than to predictive tests for monogenic diseases. Therefore, ethical, legal, and social issues that apply to predictive genetic testing for monogenic diseases may not be relevant for the prediction of multifactorial disorders in genomic medicine.

Development and evaluation of candidate high-level waste forms

International Nuclear Information System (INIS)

Bernadzikowski, T.A.

1981-01-01

Some seventeen candidate waste forms have been investigated under US Department of Energy programs as potential media for the immobilization and geologic disposal of the high-level radioactive wastes (HLW) resulting from chemical processing of nuclear reactor fuels and targets. Two of these HLW forms were selected at the end of fiscal year (FY) 1981 for intensive development if FY 1982 to 1983. Borosilicate glass was continued as the reference form. A crystalline ceramic waste form, SYNROC, was selected for further product formulation and process development as the alternative to borosilicate glass. This paper describes the bases on which this decision was made

Mechanism underlying unaltered cortical inhibitory synaptic transmission in contrast with enhanced excitatory transmission in CaV2.1 knockin migraine mice

Science.gov (United States)

Vecchia, Dania; Tottene, Angelita; van den Maagdenberg, Arn M.J.M.; Pietrobon, Daniela

2014-01-01

Familial hemiplegic migraine type 1 (FHM1), a monogenic subtype of migraine with aura, is caused by gain-of-function mutations in CaV2.1 (P/Q-type) calcium channels. In FHM1 knockin mice, excitatory neurotransmission at cortical pyramidal cell synapses is enhanced, but inhibitory neurotransmission at connected pairs of fast-spiking (FS) interneurons and pyramidal cells is unaltered, despite being initiated by CaV2.1 channels. The mechanism underlying the unaltered GABA release at cortical FS interneuron synapses remains unknown. Here, we show that the FHM1 R192Q mutation does not affect inhibitory transmission at autapses of cortical FS and other types of multipolar interneurons in microculture from R192Q knockin mice, and investigate the underlying mechanism. Lowering the extracellular [Ca2+] did not reveal gain-of-function of evoked transmission neither in control nor after prolongation of the action potential (AP) with tetraethylammonium, indicating unaltered AP-evoked presynaptic calcium influx at inhibitory autapses in FHM1 KI mice. Neither saturation of the presynaptic calcium sensor nor short duration of the AP can explain the unaltered inhibitory transmission in the mutant mice. Recordings of the P/Q-type calcium current in multipolar interneurons in microculture revealed that the current density and the gating properties of the CaV2.1 channels expressed in these interneurons are barely affected by the FHM1 mutation, in contrast with the enhanced current density and left-shifted activation gating of mutant CaV2.1 channels in cortical pyramidal cells. Our findings suggest that expression of specific CaV2.1 channels differentially sensitive to modulation by FHM1 mutations in inhibitory and excitatory cortical neurons underlies the gain-of-function of excitatory but unaltered inhibitory synaptic transmission and the likely consequent dysregulation of the cortical excitatory–inhibitory balance in FHM1. PMID:24907493

Structured exploratory data analysis (SEDA) for determining mode of inheritance of quantitative traits. I. Simulation studies on the effect of background distributions.

OpenAIRE

Karlin, S; Williams, P T; Carmelli, D

1981-01-01

We examine through simulations the effectiveness of a new methodology to help distinguish among monogenic, multifactorial, and sporadic trait transmission from parents to offspring in nuclear family data sets. The major gene index (MGI), which compares the deviation of the offspring from the midparental value with a function of the individual deviations between parents and offspring, aids in the discrimination of multifactorial from sporadic and monogenic models. In contrast with other method...

On Noether symmetries and form invariance of mechanico-electrical systems

International Nuclear Information System (INIS)

Fu Jingli; Chen Liqun

2004-01-01

This Letter focuses on form invariance and Noether symmetries of mechanico-electrical systems. Based on the invariance of Hamiltonian actions for mechanico-electrical systems under the infinitesimal transformation of the coordinates, the electric quantities and the time, the authors present the Noether symmetry transformation, the Noether quasi-symmetry transformation, the generalized Noether quasi-symmetry transformation and the general Killing equations of Lagrange mechanico-electrical systems and Lagrange-Maxwell mechanico-electrical systems. Using the invariance of the differential equations, satisfied by physical quantities, such as Lagrangian, non-potential general forces, under the infinitesimal transformation, the authors propose the definition and criterions of the form invariance for mechanico-electrical systems. The Letter also demonstrates connection between the Noether symmetries and the form invariance of mechanico-electrical systems. An example is designed to illustrate these results

HERANÇA DA RESISTÊNCIA AO Papaya ringspot virus EM MELANCIA

Directory of Open Access Journals (Sweden)

LINDOMAR MARIA DA SILVEIRA

2015-01-01

Full Text Available Aiming to study the genetic control of Papaya ringspot virus, type watermelon (PRSV-W in watermelon, the cultivar Crimson Sweet (P1 – susceptible and L26 derived from PI 244019 (P2 – resistant, as well as the resulting populations F1, F2, RC11 and RC21 of the cross of both lines were evaluated. The trials were carried out in a greenhouse, and the evaluations were done using artificial inoculations with PRSV-W isolates. The seedling symptoms were recorded using a graded scale, and the serological evaluation was done with specific antiserum using indirect ELISA. The estimated variances of the populations were used to obtain the genetic (σ 2 G, the environmental (σ 2 E, phenotypic (σ 2 F2, additive (σ 2 A and dominance (σ 2 D variances as well as the broad (h2 a and narrow sense (h2 r heritabilities. The hypothesis of monogenic inheritance was tested under different presumed average degrees of dominance as well as using the maximum likelihood. The distribution of resistant plants in the segregating populations was different from a distribution based on monogenic inheritance for all presumed average degrees of dominance, therefore, the hypothesis of monogenic inheritance was rejected indicating that this character in the line L26 is controlled by more than one major gene with the presence of modifiers. The additive-dominant model was adequate to explain the type of gene action involved, and the epistatic effects were not important in the expression of the resistance. The estimated average degree of dominance indicated complete dominance. The broad sense heritabilities for the two variables analyzed were intermediate.

Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity.

Science.gov (United States)

Pigeyre, Marie; Yazdi, Fereshteh T; Kaur, Yuvreet; Meyre, David

2016-06-01

In high-, middle- and low-income countries, the rising prevalence of obesity is the underlying cause of numerous health complications and increased mortality. Being a complex and heritable disorder, obesity results from the interplay between genetic susceptibility, epigenetics, metagenomics and the environment. Attempts at understanding the genetic basis of obesity have identified numerous genes associated with syndromic monogenic, non-syndromic monogenic, oligogenic and polygenic obesity. The genetics of leanness are also considered relevant as it mirrors some of obesity's aetiologies. In this report, we summarize ten genetically elucidated obesity syndromes, some of which are involved in ciliary functioning. We comprehensively review 11 monogenic obesity genes identified to date and their role in energy maintenance as part of the leptin-melanocortin pathway. With the emergence of genome-wide association studies over the last decade, 227 genetic variants involved in different biological pathways (central nervous system, food sensing and digestion, adipocyte differentiation, insulin signalling, lipid metabolism, muscle and liver biology, gut microbiota) have been associated with polygenic obesity. Advances in obligatory and facilitated epigenetic variation, and gene-environment interaction studies have partly accounted for the missing heritability of obesity and provided additional insight into its aetiology. The role of gut microbiota in obesity pathophysiology, as well as the 12 genes associated with lipodystrophies is discussed. Furthermore, in an attempt to improve future studies and merge the gap between research and clinical practice, we provide suggestions on how high-throughput '-omic' data can be integrated in order to get closer to the new age of personalized medicine. © 2016 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society.

Krypton oxides under pressure.

Science.gov (United States)

Zaleski-Ejgierd, Patryk; Lata, Pawel M

2016-02-02

Under high pressure, krypton, one of the most inert elements is predicted to become sufficiently reactive to form a new class of krypton compounds; krypton oxides. Using modern ab-initio evolutionary algorithms in combination with Density Functional Theory, we predict the existence of several thermodynamically stable Kr/O species at elevated pressures. In particular, our calculations indicate that at approx. 300 GPa the monoxide, KrO, should form spontaneously and remain thermo- and dynamically stable with respect to constituent elements and higher oxides. The monoxide is predicted to form non-molecular crystals with short Kr-O contacts, typical for genuine chemical bonds.

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

Science.gov (United States)

Alcaïs, Alexandre; Quintana-Murci, Lluis; Thaler, David S; Schurr, Erwin; Abel, Laurent; Casanova, Jean-Laurent

2010-12-01

The hypothesis that inborn errors of immunity underlie infectious diseases is gaining experimental support. However, the apparent modes of inheritance of predisposition or resistance differ considerably among diseases and among studies. A coherent genetic architecture of infectious diseases is lacking. We suggest here that life-threatening infectious diseases in childhood, occurring in the course of primary infection, result mostly from individually rare but collectively diverse single-gene variations of variable clinical penetrance, whereas the genetic component of predisposition to secondary or reactivation infections in adults is more complex. This model is consistent with (i) the high incidence of most infectious diseases in early childhood, followed by a steady decline; (ii) theoretical modeling of the impact of monogenic or polygenic predisposition on the incidence distribution of infectious diseases before reproductive age; (iii) available molecular evidence from both monogenic and complex genetics of infectious diseases in children and adults; (iv) current knowledge of immunity to primary and secondary or latent infections; (v) the state of the art in the clinical genetics of noninfectious pediatric and adult diseases; and (vi) evolutionary data for the genes underlying single-gene and complex disease risk. With the recent advent of new-generation deep resequencing, this model of single-gene variations underlying severe pediatric infectious diseases is experimentally testable. © 2010 New York Academy of Sciences.

Densified waste form and method for forming

Science.gov (United States)

Garino, Terry J.; Nenoff, Tina M.; Sava Gallis, Dorina Florentina

2015-08-25

Materials and methods of making densified waste forms for temperature sensitive waste material, such as nuclear waste, formed with low temperature processing using metallic powder that forms the matrix that encapsulates the temperature sensitive waste material. The densified waste form includes a temperature sensitive waste material in a physically densified matrix, the matrix is a compacted metallic powder. The method for forming the densified waste form includes mixing a metallic powder and a temperature sensitive waste material to form a waste form precursor. The waste form precursor is compacted with sufficient pressure to densify the waste precursor and encapsulate the temperature sensitive waste material in a physically densified matrix.

78 FR 57218 - Proposed Collection; Comment Request for Form 8283-V

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2013-09-17

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7 CFR 51.315 - Fairly well formed.

Science.gov (United States)

2010-01-01

... Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing Practices), DEPARTMENT OF AGRICULTURE REGULATIONS AND STANDARDS UNDER THE AGRICULTURAL MARKETING ACT OF 1946... Standards for Grades of Apples Definitions § 51.315 Fairly well formed. “Fairly well formed” means that the...

Tritium forms discrimination in ryegrass under constant tritium exposure: From seed germination to seedling autotrophy.

Science.gov (United States)

Renard, H; Maro, D; Le Dizès, S; Escobar-Gutiérrez, A; Voiseux, C; Solier, L; Hébert, D; Rozet, M; Cossonnet, C; Barillot, R

2017-10-01

Uncertainties remain regarding the fate of atmospheric tritium after it has been assimilated in grasslands (ryegrass) in the form of TFWT (Tissue Free Water Tritium) or OBT (Organically Bound Tritium). One such uncertainty relates to the tritium forms discrimination during transfer from TFWT to OBT resulting from photosynthesis (OBT photo ), corresponding to the OBT photo /TFWT ratio. In this study, the OBT/TFWT ratio is determined by experiments in the laboratory using a ryegrass model and hydroponic cultures, with constant activity of tritium in the form of tritiated water (denoted as HTO) in the "water" compartment (liquid HTO) and "air" compartment (HTO vapour in the air). The OBT photo /TFWT ratio and the exchangeable OBT fraction are measured for three parts of the plant: the leaf, seed and root. Plant growth is modelled using dehydrated biomass measurements taken over time in the laboratory and integrating physiological functions of the plant during the first ten days after germination. The results suggest that there is no measurable discrimination of tritium in the plant organic matter produced by photosynthesis. Copyright © 2017 Elsevier Ltd. All rights reserved.

Thermal conductivity of multibarrier waste form components

International Nuclear Information System (INIS)

Lokken, R.O.

1981-01-01

The multiple barrier concept of radioactive waste immobilization under investigation at Pacific Northwest Laboratory (PNL) uses composite waste forms which exhibit enhanced inertness through improvements in thermal stability, mechanical strength, and leachability by the use of coatings and metal matrices. Since excessive heat may be generated by radioactive decay of the waste, the thermal conductivity of the various barriers, and more importantly of the composite, becomes an important parameter in design criteria. This report presents results of thermal conductivity measurements on 21 various glass, ceramic, metal and composite materials used in multibarrier waste forms development

Krypton oxides under pressure

OpenAIRE

Zaleski-Ejgierd, Patryk; Łata, Paweł

2015-01-01

Under high pressure, krypton, one of the most inert elements is predicted to become sufficiently reactive to form a new class of krypton compounds; krypton oxides. Using modern ab-initio evolutionary algorithms in combination with Density Functional Theory, we predict the existence of several thermodynamically stable Kr/O species at elevated pressures. In particular, our calculations indicate that at approx. 300?GPa the monoxide, KrO, should form spontaneously and remain thermo- and dynamical...

38 CFR 19.50 - Nature and form of administrative appeal.

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2010-07-01

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2010-10-01

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HEREDITARY CONNECTIVE TISSUE DISORDERS: NOMENCLATURE AND DIAGNOSTIC ALGORITHM

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A. V. Klemenov

2015-01-01

Full Text Available Hereditary connective tissue disorders (HCTDs are a genetically and clinically diverse group of diseases, which encompasses common congenital disorders of fibrous connective tissue structures. Out of the whole variety of the clinical manifestations of NCTDs, only differentiated monogenic syndromes with the agreed guidelines for their diagnosis have been long the focus of the medical community’s attention. Many unclassified forms of the pathology (dysplasia phenotypes have been disregarded while assessing a person’s prognosis and defining treatment policy. With no clear definition of NCTDs or their approved diagnostic algorithm, it is difficult to study their real prevalence in the population, to compare literature data, and to constructively discuss various scientific and practical aspects of this disease. Efforts to systematize individual clinical types of NCTD and to formulate their diagnostic criteria are set forth in the All-Russian Research Society Expert Committee national guidelines approved in 2009 and revised in 2012. The paper gives current views on the nomenclature of NCTDs, considers diagnostic criteria for both classified monogenic syndromes (Marfan's syndrome, Ehlers–Danlos' syndrome, MASS phenotype, primary mitral valve prolapse, joint hypermobility syndrome and unclassified dysplasia phenotypes (MASS-like phenotype, marfanoid appearance, Ehlers–Danlos-like phenotype, benign joint hypermobility syndrome, unclassified phenotype. The above abnormalities are presented as a continuous list drawn up in the decreasing order of the degree of their clinical manifestations and prognostic value (the phenotypic continuum described by M.J. Glesby and R.E. Pyentz: from monogenic syndromes through dysplasia phenotypes to an unclassified phenotype. Emphasis is laid on the clinical NCTD identification difficulties associated with the lack of specificity of external and visceral markers of connective tissue asthenia and with the certain

Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke [version 1; referees: 2 approved

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Sarah McGlasson

2017-11-01

Full Text Available Background: Monoallelic and biallelic mutations in the exonuclease TREX1 cause monogenic small vessel diseases (SVD. Given recent evidence for genetic and pathophysiological overlap between monogenic and polygenic forms of SVD, evaluation of TREX1 in small vessel stroke is warranted. Methods: We sequenced the TREX1 gene in an exploratory cohort of patients with lacunar stroke (Edinburgh Stroke Study, n=290 lacunar stroke cases. We subsequently performed a fully blinded case-control study of early onset MRI-confirmed small vessel stroke within the UK Young Lacunar Stroke Resource (990 cases, 939 controls. Results: No patients with canonical disease-causing mutations of TREX1 were identified in cases or controls. Analysis of an exploratory cohort identified a potential association between rare variants of TREX1 and patients with lacunar stroke. However, subsequent controlled and blinded evaluation of TREX1 in a larger and MRI-confirmed patient cohort, the UK Young Lacunar Stroke Resource, identified heterozygous rare variants in 2.1% of cases and 2.3% of controls. No association was observed with stroke risk (odds ratio = 0.90; 95% confidence interval, 0.49-1.65 p=0.74. Similarly no association was seen with rare TREX1 variants with predicted deleterious effects on enzyme function (odds ratio = 1.05; 95% confidence interval, 0.43-2.61 p=0.91. Conclusions: No patients with early-onset lacunar stroke had genetic evidence of a TREX1-associated monogenic microangiopathy. These results show no evidence of association between rare variants of TREX1 and early onset lacunar stroke. This includes rare variants that significantly affect protein and enzyme function. Routine sequencing of the TREX1 gene in patients with early onset lacunar stroke is therefore unlikely to be of diagnostic utility, in the absence of syndromic features or family history.

78 FR 63566 - Proposed Collection; Comment Request for Form 8838

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2013-10-24

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2013-07-24

... (OMB) for review and comment. The ICR describes the nature of the information collection and its... August 23, 2013. FOR FURTHER INFORMATION CONTACT: John Piazza, National Highway Traffic Safety... criminal prosecutions under 49 U.S.C. 30170, given the lack of prosecutions under the statute to date...

Structural imaging in the presymptomatic stage of genetically determined parkinsonism

DEFF Research Database (Denmark)

Reetz, Kathrin; Tadic, Vera; Kasten, Meike

2010-01-01

Several genes associated with monogenic forms of Parkinson's disease (PD) have been discovered, opening up new avenues for the investigation of presymptomatic stages of PD. Using voxel-based morphometry in 30 asymptomatic mutation carriers (MC) with mutations in four different genes for PD and 100....... The observed striatal GMV increase might be the common structural correlate of compensatory mechanisms due to the latent dopaminergic deficit, reflecting the different, but probably interrelated pathogenic pathways resulting in nigral cell death. Asymptomatic PINK1 and LRRK2 MC also revealed smaller GMV...

The Genetics of Monogenic Frontotemporal Dementia

Directory of Open Access Journals (Sweden)

Leonel T. Takada

Full Text Available ABSTRACTAround 10-15% of patients diagnosed with frontotemporal dementia (FTD have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT(microtubuleassociated protein tau gene in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with MAPT, mutations in GRN(progranulin and C9orf72(chromosome 9 open reading frame 72 are the most commonly identified in FTD cohorts. The association of FTD and motor neuron disease (MND can be caused by mutations in C9orf72and other genes, such as TARDBP(TAR DNA-binding protein, FUS(fused in sarcoma, UBQLN2(ubiquilin 2. Multisystem proteinopathy is a complex phenotype that includes FTD, Paget disease of the bone, inclusion body myopathy and MND, and can be due to mutations in VCP(valosing containing protein and other recently identified genes.

Monogenic primary hypercholesterolaemia in South Africa

African Journals Online (AJOL)

The population genetics that created the exceptionally high frequency of. FH and comparatively low frequency of FDB in ... MRC Research Unit for the Cell Biology ofAtherosclerosis,. Department ... death from a heart anack before the age of 25 years.I,' .... Alternatively, because most rural blacks eat low fat diets and have.

76 FR 55745 - Implementation of Form 990

Science.gov (United States)

2011-09-08

... the organization used the accrual method of accounting to keep its books under section 446, and... its Form 990. The comment observed that an organization using the accrual method of accounting to keep... using the organization's overall method of accounting. All tax-exempt organizations required to file...

Renal cells express different forms of vimentin: the independent expression alteration of these forms is important in cell resistance to osmotic stress and apoptosis.

Directory of Open Access Journals (Sweden)

Bettina S Buchmaier

Full Text Available Osmotic stress has been shown to regulate cytoskeletal protein expression. It is generally known that vimentin is rapidly degraded during apoptosis by multiple caspases, resulting in diverse vimentin fragments. Despite the existence of the known apoptotic vimentin fragments, we demonstrated in our study the existence of different forms of vimentin VIM I, II, III, and IV with different molecular weights in various renal cell lines. Using a proteomics approach followed by western blot analyses and immunofluorescence staining, we proved the apoptosis-independent existence and differential regulation of different vimentin forms under varying conditions of osmolarity in renal cells. Similar impacts of osmotic stress were also observed on the expression of other cytoskeleton intermediate filament proteins; e.g., cytokeratin. Interestingly, 2D western blot analysis revealed that the forms of vimentin are regulated independently of each other under glucose and NaCl osmotic stress. Renal cells, adapted to high NaCl osmotic stress, express a high level of VIM IV (the form with the highest molecular weight, besides the three other forms, and exhibit higher resistance to apoptotic induction with TNF-α or staurosporin compared to the control. In contrast, renal cells that are adapted to high glucose concentration and express only the lower-molecular-weight forms VIM I and II, were more susceptible to apoptosis. Our data proved the existence of different vimentin forms, which play an important role in cell resistance to osmotic stress and are involved in cell protection against apoptosis.

Formation of unusual oxide forms of U, Pu, Cf under conditions of gas thermochromatography

International Nuclear Information System (INIS)

Domanov, V.P.; Buklanov, G.V.; Lobanov, Yu.V.; )

2002-01-01

Behavior of trace amounts of uranium, 249 Cf and 238,239 Pu during their thermal oxidation in He+O 2 in a wide range of oxygen concentrations (C O 2 ) was studied by the method of thermochromatography. In the range of C O 2 50-5x10 -2 % precipitation of dioxides and trioxides of the elements studied was observed at (450-460)±25 deg C and 250±25 deg C respectively. In the range of C O 2 from 50 to 1% anomalously high volatility pf plutonium precipitated at -105±25 deg C was detected. Adsorption enthalpy value of high-volatile plutonium form made up 41±6 kJ/mol, which is close to the relevant value for OsO 4 . It is shown that precipitation range of 185 OsO 4 and volatile form of plutonium overlap. Assumption is made on preparation of readily volatile plutonium tetraoxide in gaseous phase [ru

Radiation diagnosis of different forms of acute pancreatitis

International Nuclear Information System (INIS)

Stashuk, G.A.; Dubrova, S.Eh.; Emel'yanova, L.N.; Tripatkhi, S.

1999-01-01

Using the data on 123 patient with different forms of pancreatitis the ultrasonic and computerized tomographic semiotics of these states is described. It is shown that ultrasonography and computerized tomography are highly informative in diagnosis of different forms of the disease and its complications. Both methods not only assess the pancreatic parenchyma state, the spreading of process into adjacent anatomic structures, but also the dynamic control and perform diagnostic and treatment measures under visual control [ru

Relating structural parameters to leachability in a glass-bonded ceramic waste form

International Nuclear Information System (INIS)

Frank, S. M.; Johnson, S. G.; Moschetti, T. L.

1998-01-01

Lattice parameters for a crystalline material can be obtained by several methods, notably by analyzing x-ray powder diffraction patterns. By utilizing a computer program to fit a pattern, one can follow the evolution or subtle changes in a structure of a crystalline species in different environments. This work involves such a study for an essential component of the ceramic waste form that is under development at Argonne National Laboratory. Zeolite 4A and zeolite 5A are used to produce two different types of waste forms: a glass-bonded sodalite and a glass-bonded zeolite, respectively. Changes in structure during production of the waste forms are discussed. Specific salt-loadings in the sodalite waste form are related to relative peak intensities of certain reflections in the XRD patterns. Structural parameters for the final waste forms will also be given and related to leachability under standard conditions

75 FR 33670 - Proposed Collection; Comment Request for Form 2032

Science.gov (United States)

2010-06-14

..., Public Law 104-13(44 U.S.C. 3506(c)(2)(A)). Currently, the IRS is soliciting comments concerning Form 2032, Contract Coverage Under Title II of the Social Security Act. DATES: Written comments should [email protected] . SUPPLEMENTARY INFORMATION: Title: Contract Coverage Under Title II of the Social...

Current algebra constraints on K13 form factors

International Nuclear Information System (INIS)

Simmons, L.D.

1975-01-01

New theoretical constraints on the divergence form factor in K 13 decays are derived. The assumptions underlying the derivation are presented. The constraints on the divergence form factor are derived and summarized in the form of a theorem. It is shown that the finiteness of the leakage charge is a natural consequence of the parallelΔI vectorparallel = 1 / 2 rule. The Lorentz invariance of current algebra sum rules is discussed. The theorem is rederived within the context of the conserved vector current hypothesis. Finally, the implications of the present work are noted with attention being paid to both the theoretical and experimental consequences

Characteristics of thin film fullerene coatings formed under different deposition conditions by power ion beams

International Nuclear Information System (INIS)

Petrov, A.V.; Ryabchikov, A.I.; Struts, V.K.; Usov, Yu.P.; Renk, T.J.

2007-01-01

Carbon allotropic form - C 60 and C 70 can be used in microelectronics, superconductors, solar batteries, logic and memory devices to increase processing tool wear resistance, as magnetic nanocomposite materials for record and storage information, in biology, medicine and pharmacology. In many cases it is necessary to have a thin-film containing C 60 and C 70 fullerene carbon coatings. A possibility in principle of thin carbon films formation with nanocrystalline structure and high content ∼30-95% of C 60 and C 70 fullerene mixture using the method of graphite targets sputtering by a power ion beam has been shown. Formation of thin-film containing C 60 and C 70 fullerene carbon coatings were carried out by means of deposition of ablation plasma on silicon substrates. Ablation plasma was generated as result of interaction of high-power pulsed ion beams (HPPIB) with graphite targets of different densities. It has been demonstrated that formation of fullerenes, their amount and characteristics of thin-film coatings depend on the deposition conditions. The key parameter for such process is the deposition rate, which determines thin film formation conditions and, subsequently, its structure and mechanical properties. Nano-hardness, Young module, adhesion to mono-crystalline silicon substrate, friction coefficient, roughness surface of synthesized coatings at the different deposition conditions were measured. These characteristics are under influence of such main process parameters as energy density of HPPIB, which, in turn, determinates the density and temperature of ablation plasma and deposition speed, which is thickness of film deposited for one pulse of ion current. Nano-hardness and Young module meanings are higher at the increasing of power density of ion beam. Adhesion value is less at the high deposition speed. As rule, friction coefficient depends on vice versa from roughness. (authors)

Fueter's theorem and its generalizations in Dunkl-Clifford analysis

International Nuclear Information System (INIS)

Fei Minggang; Cerejeiras, Paula; Kaehler, Uwe

2009-01-01

In this paper, we give a construction of Dunkl monogenic and Dunkl harmonic functions starting from holomorphic functions in the plane. This construction has the advantage of not needing Dunkl's intertwining operator or Dunkl spherical harmonics. To this end we study Vekua-type systems and prove a version of Fueter's theorem in the case of finite reflection groups. Important examples, such as a Dunkl monogenic Gaussian distribution or a Cauchy kernel, will be given at the end.

Summary: special waste form lysimeters - arid program

International Nuclear Information System (INIS)

Skaggs, R.L.; Walter, M.B.

1987-01-01

The purpose of the Special Waste Form Lysimeters - Arid Program is to determine the performance of solidified commercial low-level waste forms using a field-scale lysimeter facility constructed for measuring the release and migration of radionuclides from the waste forms. The performance of these waste forms, as measured by radionuclide concentrations in lysimeter effluent, will be compared to that predicted by laboratory characterization of the waste forms. Waste forms being tested include nuclear power reactor waste streams that have been solidified in cement, Dow polymer, and bitumen. To conduct the field leaching experiments a lysimeter facility was built to measure leachate under actual environmental conditions. Field-scale samples of waste were buried in lysimeters equipped to measure water balance components, effluent radionuclide concentrations, and to a limited extent, radionuclide concentrations in lysimeter soil samples. The waste forms are being characterized by standard laboratory leach tests to obtain estimates of radionuclide release. These estimates will be compared to leach rates observed in the field. Adsorption studies are being conducted to determine the amount of contaminant available for transport after the release. Theoretical solubility calculations will also be performed to investigate whether common solid phases could be controlling radionuclide release. 4 references, 8 figures, 1 table

75 FR 20033 - Reports, Forms and Recordkeeping Requirements; Agency Information Collection Activity Under OMB...

Science.gov (United States)

2010-04-16

... danger during the operations by the Armed forces of the United States in World War II, Korea, Vietnam... minimize the burden of the collection of information on respondents, including the use of automated collection techniques or other forms of information technology. A comment to OMB is best assured of having...

Optimal ship forms for minimum total resistance in shallow water

OpenAIRE

Zhao, Lian-en

1984-01-01

Optimal ship forms for minimum total resistance in shallow water Optimal ship forms for minimum total resistance in shallow water: An attempt is made to obtain shallow-water optimal ship forms for total resistance by means of "tent" function representation under the constraints that the main dimensions of the ship and the water-line area were kept constant. The objective function in the quadratic programming is the sum of wave-making resistance calculated by Sretenski's formula and viscou...

Use of colour for hand-filled form analysis and recognition

OpenAIRE

Sherkat, N; Allen, T; Wong, WS

2005-01-01

Colour information in form analysis is currently under utilised. As technology has advanced and computing costs have reduced, the processing of forms in colour has now become practicable. This paper describes a novel colour-based approach to the extraction of filled data from colour form images. Images are first quantised to reduce the colour complexity and data is extracted by examining the colour characteristics of the images. The improved performance of the proposed method has been verifie...

Toxicity of TiO2, in nanoparticle or bulk form to freshwater and marine microalgae under visible light and UV-A radiation.

Science.gov (United States)

Sendra, M; Moreno-Garrido, I; Yeste, M P; Gatica, J M; Blasco, J

2017-08-01

Use of titanium dioxide nanoparticles (TiO 2 NPs) has become a part of our daily life and the high environmental concentrations predicted to accumulate in aquatic ecosystems are cause for concern. Although TiO 2 has only limited reactivity, at the nanoscale level its physico-chemical properties and toxicity are different compared with bulk material. Phytoplankton is a key trophic level in fresh and marine ecosystems, and the toxicity provoked by these nanoparticles can affect the structure and functioning of ecosystems. Two microalgae species, one freshwater (Chlamydomonas reinhardtii) and the other marine (Phaeodactylum tricornutum), have been selected for testing the toxicity of TiO 2 in NP and conventional bulk form and, given its photo-catalytic properties, the effect of UV-A was also checked. Growth inhibition, quantum yield reduction, increase of intracellular ROS production, membrane cell damage and production of exo-polymeric substances (EPS) were selected as variables to measure. TiO 2 NPs and bulk TiO 2 show a relationship between the size of agglomerates and time in freshwater and saltwater, but not in ultrapure water. Under two treatments, UV-A (6 h per day) and no UV-A exposure, NPs triggered stronger cytotoxic responses than bulk material. TiO 2 NPs were also associated with greater production of reactive oxygen species and damage to membrane. However, microalgae exposed to TiO 2 NPs and bulk TiO 2 under UV-A were found to be more sensitive than in the visible light condition. The marine species (P. tricornutum) was more sensitive than the freshwater species, and higher Ti internalization was measured. Exopolymeric substances (EPS) were released from microalgae in the culture media, in the presence of TiO 2 in both forms. This may be a possible defense mechanism by these cells, which would enhance processes of homoagglomeration and settling, and thus reduce bioavailability. Copyright © 2017 Elsevier Ltd. All rights reserved.

General operator form of the non-local three-nucleon force

Energy Technology Data Exchange (ETDEWEB)

Topolnicki, K. [Jagiellonian University, M. Smoluchowski Institute of Physics, Krakow (Poland)

2017-09-15

This paper describes a procedure to obtain the general form of the three-nucleon force. The result is an operator form where the momentum space matrix element of the three-nucleon potential is written as a linear combination of 320 isospin-spin-momentum operators and scalar functions of momenta. Any spatial and isospin rotation invariant three-nucleon force can be written in this way and in order for the potential to be Hermitian, symmetric under parity inversion, time reversal and particle exchange, the scalar functions must have definite transformation properties under these discrete operations. A complete list of the isospin-spin-momentum operators and scalar function transformation properties is given. (orig.)

Comparative assessment of TRU waste forms and processes. Volume I. Waste form and process evaluations

International Nuclear Information System (INIS)

Ross, W.A.; Lokken, R.O.; May, R.P.; Roberts, F.P.; Timmerman, C.L.; Treat, R.L.; Westsik, J.H. Jr.

1982-09-01

This study provides an assesses seven waste forms and eight processes for immobilizing transuranic (TRU) wastes. The waste forms considered are cast cement, cold-pressed cement, FUETAP (formed under elevated temperature and pressure) cement, borosilicate glass, aluminosilicate glass, basalt glass-ceramic, and cold-pressed and sintered silicate ceramic. The waste-immobilization processes considered are in-can glass melting, joule-heated glass melting, glass marble forming, cement casting, cement cold-pressing, FUETAP cement processing, ceramic cold-pressing and sintering, basalt glass-ceramic processing. Properties considered included gas generation, chemical durability, mechanical strength, thermal stability, and radiation stability. The ceramic products demonstrated the best properties, except for plutonium release during leaching. The glass and ceramic products had similar properties. The cement products generally had poorer properties than the other forms, except for plutonium release during leaching. Calculations of the Pu release indicated that the waste forms met the proposed NRC release rate limit of 1 part in 10 5 per year in most test conditions. The cast-cement process had the lowest processing cost, followed closely by the cold-pressed and FUETAP cement processes. Joule-heated glass melting had the lower cost of the glass processes. In-can melting in a high-quality canister had the highest cost, and cold-pressed and sintered ceramic the second highest. Labor and canister costs for in-can melting were identified. The major contributor to costs of disposing of TRU wastes in a defense waste repository is waste processing costs. Repository costs could become the dominant cost for disposing of TRU wastes in a commercial repository. It is recommended that cast and FUETAP cement and borosilicate glass waste-form systems be considered. 13 figures, 16 tables

Analysis and Compensation for Gear Accuracy with Setting Error in Form Grinding

Directory of Open Access Journals (Sweden)

Chenggang Fang

2015-01-01

Full Text Available In the process of form grinding, gear setting error was the main factor that influenced the form grinding accuracy; we proposed an effective method to improve form grinding accuracy that corrected the error by controlling the machine operations. Based on establishing the geometry model of form grinding and representing the gear setting errors as homogeneous coordinate, tooth mathematic model was obtained and simplified under the gear setting error. Then, according to the gear standard of ISO1328-1: 1997 and the ANSI/AGMA 2015-1-A01: 2002, the relationship was investigated by changing the gear setting errors with respect to tooth profile deviation, helix deviation, and cumulative pitch deviation, respectively, under the condition of gear eccentricity error, gear inclination error, and gear resultant error. An error compensation method was proposed based on solving sensitivity coefficient matrix of setting error in a five-axis CNC form grinding machine; simulation and experimental results demonstrated that the method can effectively correct the gear setting error, as well as further improving the forming grinding accuracy.

Scientific principles underlying the production of metallurgy-grade formed coke from weakly baking coals. Nauchnye osnovy proizvodstva formovannogo metallurgicheskogo koksa iz slabospekayushchikhsya uglei

Energy Technology Data Exchange (ETDEWEB)

Speranskaya, G.V.; Tyutyunnikov, Yu.B.; Erkin, L.I.; Nefedov, P.Ya.; Sheptovitskii, M.S.; Toryanik, E.I.

1987-01-01

Coking coal resources of the USSR are nonuniformly distributed among major coal basins (Donetsk 26%, Pechora 7%, Kizelovsk and L'vov-Volyn' 0.5% each, Kuznetsk 48.2%, Karaganda 7%, South Yakutiya 4.4%, others 7.4%). Only one-third of the resources are available in the European area of the USSR where the demand for blast-furnace coke is greater. The use of weakly baking and nonbaking coals for the production of metallurgy-grade formed coke has been found to be the simplest way to avoid transportation of fat components of coking blends and to cut the cost of pig iron production under Soviet circumstances. Commercial production of the formed coke should enable the blast-furnace coke production to be raised by 15 Mio t/a now and by 20-22 Mio t/a in the nearest future without the structure of the Soviet coal production being significantly affected. The book describes technical properties of the gas, weakly baking and long-flame coals (G, SS and D types, respectively) from Donetsk, Kuznetsk, Irkutsk and Karaganda coal basins used as coking blend components, discusses many scientific and technological aspects of the industrial-scale process (i.e. thermal pretreatment of coal with a gaseous heat-carrier, effect of pressure on the plastic layer formation in weakly baking coal blends, coke oven construction), and reviews technical properties of formed coke (shape and size of coke lumps, drum strength, macro- and microstructure, thermal stability, reactivity) used in the blast-furnace process. 122 refs., 118 figs., 87 tabs.

7 CFR 1.325 - Form, filing and service of papers.

Science.gov (United States)

2010-01-01

... 7 Agriculture 1 2010-01-01 2010-01-01 false Form, filing and service of papers. 1.325 Section 1... and service of papers. (a) Form. (1) The original and two copies of all papers in a proceeding conducted under this subpart shall be filed with the ALJ assigned to the case. (2) Every pleading and paper...

Harmonic Maass forms and mock modular forms

CERN Document Server

Bringmann, Kathrin; Ono, Ken

2017-01-01

Modular forms and Jacobi forms play a central role in many areas of mathematics. Over the last 10-15 years, this theory has been extended to certain non-holomorphic functions, the so-called "harmonic Maass forms". The first glimpses of this theory appeared in Ramanujan's enigmatic last letter to G. H. Hardy written from his deathbed. Ramanujan discovered functions he called "mock theta functions" which over eighty years later were recognized as pieces of harmonic Maass forms. This book contains the essential features of the theory of harmonic Maass forms and mock modular forms, together with a wide variety of applications to algebraic number theory, combinatorics, elliptic curves, mathematical physics, quantum modular forms, and representation theory.

75 FR 61244 - Proposed Collection; Comment Request for Form 8038-R

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2010-10-04

... 8038-R AGENCY: Internal Revenue Service (IRS), Treasury. ACTION: Notice and request for comments... Form 8038-R, Request for Recovery of Overpayments Under Arbitrage Rebate Provisions. DATES: Written... information or copies of the form and instructions should be directed to R. Joseph Durbala at Internal Revenue...

Evaluation and selection of candidate high-level waste forms

International Nuclear Information System (INIS)

1982-03-01

Seven candidate waste forms being developed under the direction of the Department of Energy's National High-Level Waste (HLW) Technology Program, were evaluated as potential media for the immobilization and geologic disposal of high-level nuclear wastes. The evaluation combined preliminary waste form evaluations conducted at DOE defense waste-sites and independent laboratories, peer review assessments, a product performance evaluation, and a processability analysis. Based on the combined results of these four inputs, two of the seven forms, borosilicate glass and a titanate based ceramic, SYNROC, were selected as the reference and alternative forms for continued development and evaluation in the National HLW Program. Both the glass and ceramic forms are viable candidates for use at each of the DOE defense waste-sites; they are also potential candidates for immobilization of commercial reprocessing wastes. This report describes the waste form screening process, and discusses each of the four major inputs considered in the selection of the two forms

78 FR 53507 - Agency Information Collection (Beneficiary Travel Mileage Reimbursement Application Form...

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2013-08-29

... DEPARTMENT OF VETERANS AFFAIRS [OMB Control No. 2900-NEW] Agency Information Collection (Beneficiary Travel Mileage Reimbursement Application Form) Activity Under OMB Review AGENCY: Veterans Health... Control No. 2900- NEW (Beneficiary Travel Mileage Reimbursement Application Form)'' in any correspondence...

iFORM: Incorporating Find Occurrence of Regulatory Motifs.

Science.gov (United States)

Ren, Chao; Chen, Hebing; Yang, Bite; Liu, Feng; Ouyang, Zhangyi; Bo, Xiaochen; Shu, Wenjie

2016-01-01

Accurately identifying the binding sites of transcription factors (TFs) is crucial to understanding the mechanisms of transcriptional regulation and human disease. We present incorporating Find Occurrence of Regulatory Motifs (iFORM), an easy-to-use and efficient tool for scanning DNA sequences with TF motifs described as position weight matrices (PWMs). Both performance assessment with a receiver operating characteristic (ROC) curve and a correlation-based approach demonstrated that iFORM achieves higher accuracy and sensitivity by integrating five classical motif discovery programs using Fisher's combined probability test. We have used iFORM to provide accurate results on a variety of data in the ENCODE Project and the NIH Roadmap Epigenomics Project, and the tool has demonstrated its utility in further elucidating individual roles of functional elements. Both the source and binary codes for iFORM can be freely accessed at https://github.com/wenjiegroup/iFORM. The identified TF binding sites across human cell and tissue types using iFORM have been deposited in the Gene Expression Omnibus under the accession ID GSE53962.

Genetics of allergy and allergic sensitization

DEFF Research Database (Denmark)

Bønnelykke, Klaus; Sparks, Rachel; Waage, Johannes

2015-01-01

information about shared genetics between allergy, related phenotypes and autoimmunity. Studies of monogenic diseases have elucidated critical cellular pathways and protein functions responsible for allergy. These complementary approaches imply genetic mechanisms involved in Th2 immunity, T......Our understanding of the specific genetic lesions in allergy has improved in recent years due to identification of common risk variants from genome-wide association studies (GWAS) and studies of rare, monogenic diseases. Large-scale GWAS have identified novel susceptibility loci and provided...

CrN-based wear resistant hard coatings for machining and forming tools

Energy Technology Data Exchange (ETDEWEB)

Yang, S; Cooke, K E; Teer, D G [Teer Coatings Ltd, West Stone House, Berry Hill Industrial Estate, Droitwich, Worcestershire WR9 9AS (United Kingdom); Li, X [School of Metallurgy and Materials, University of Birmingham, Birmingham B15 2TT (United Kingdom); McIntosh, F [Rolls-Royce plc, Inchinnan, Renfrewshire PA4 9AF, Scotland (United Kingdom)

2009-05-21

Highly wear resistant multicomponent or multilayer hard coatings, based on CrN but incorporating other metals, have been developed using closed field unbalanced magnetron sputter ion plating technology. They are exploited in coated machining and forming tools cutting and forming of a wide range of materials in various application environments. These coatings are characterized by desirable properties including good adhesion, high hardness, high toughness, high wear resistance, high thermal stability and high machining capability for steel. The coatings appear to show almost universal working characteristics under operating conditions of low and high temperature, low and high machining speed, machining of ordinary materials and difficult to machine materials, and machining under lubricated and under minimum lubricant quantity or even dry conditions. These coatings can be used for cutting and for forming tools, for conventional (macro-) machining tools as well as for micromachining tools, either as a single coating or in combination with an advanced, self-lubricating topcoat.

Cermet high level waste forms: a pregress report

International Nuclear Information System (INIS)

Aaron, W.S.; Quinby, T.C.; Kobisk, E.H.

1978-06-01

The fixation of high level radioactive waste from both commercial and DOE defense sources as cermets is currently under study. This waste form consists of a continuous iron-nickel base metal matrix containing small particles of fission product oxides. Preliminary evaluations of cermets fabricated from a variety of simulated wastes indicate they possess properties providing advantages over other waste forms presently being considered, namely thermal conductivity, waste loading levels, and leach resistance. This report describes the progress of this effort, to date, since its initiation in 1977

78 FR 49324 - Reports, Forms, and Record Keeping Requirements

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2013-08-13

... these vehicles are considerably less comprehensive than those submitted for vehicles from Europe, Japan... entered under Box 8 on the HS-7 Declaration form. Vehicles that can be entered in this fashion include...

Buccal Dosage Forms: General Considerations for Pediatric Patients.

Science.gov (United States)

Montero-Padilla, Soledad; Velaga, Sitaram; Morales, Javier O

2017-02-01

The development of an appropriate dosage form for pediatric patients needs to take into account several aspects, since adult drug biodistribution differs from that of pediatrics. In recent years, buccal administration has become an attractive route, having different dosage forms under development including tablets, lozenges, films, and solutions among others. Furthermore, the buccal epithelium can allow quick access to systemic circulation, which could be used for a rapid onset of action. For pediatric patients, dosage forms to be placed in the oral cavity have higher requirements for palatability to increase acceptance and therapy compliance. Therefore, an understanding of the excipients required and their functions and properties needs to be particularly addressed. This review is focused on the differences and requirements relevant to buccal administration for pediatric patients (compared to adults) and how novel dosage forms can be less invasive and more acceptable alternatives.

Nitrogen compounds behavior under irradiation environment

International Nuclear Information System (INIS)

Ichikawa, Nagayoshi; Takagi, Junichi; Yotsuyanagi, Tadasu

1991-01-01

Laboratory experiments were performed to evaluate nitrogen compounds behavior in liquid phase under irradiation environments. Nitrogen compounds take a chemical form of ammonium ion under reducing condition by gamma irradiation, whereas ammonium ions are rather stable even under oxidizing conditions. Key reactions were pointed out and their reaction rate constants and activation energies were estimated through computer code simulation. A reaction scheme for nitrogen compounds including protonate reaction was proposed. (author)

76 FR 46895 - Agency Information Collection Activity Under OMB Review; Reports, Forms and Record Keeping...

Science.gov (United States)

2011-08-03

... manufacturers of passenger cars, trucks, buses and MPVs with a GVWR of 4,536 kg (10,000 lb) or less, to annually... information on respondents, including the use of automated collection techniques or other forms of information...

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Science.gov (United States)

Mallett, Andrew J; McCarthy, Hugh J; Ho, Gladys; Holman, Katherine; Farnsworth, Elizabeth; Patel, Chirag; Fletcher, Jeffery T; Mallawaarachchi, Amali; Quinlan, Catherine; Bennetts, Bruce; Alexander, Stephen I

2017-12-01

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

Effect of loading pattern on longitudinal bowing in flexible roll forming

Energy Technology Data Exchange (ETDEWEB)

Kim, Jae Hyun; Woo, Young Yun; Hwang, Tae Woo; Han, Sang Wook; Moon, Young Hoon [School of Mechanical Engineering, Engineering Research Center for Net Shape and Die Manufacturing, Pusan National University,Busan (Korea, Republic of)

2016-12-15

The flexible roll forming process can be used to fabricate products with a variable cross-section profile in the longitudinal direction. Transversal nonuniformity of the longitudinal strain is one of the fundamental characteristics of blank deformation in flexible roll forming. Longitudinal bowing is a shape defect caused by transversal nonuniformity of the longitudinal strain. In this study, loading patterns in flexible roll forming are investigated in order to reduce the longitudinal bowing in a roll-formed blank. To analyze the effects of loading patterns on longitudinal bowing, two different forming schedules are implemented. In schedule 1, loading patterns with different bending angle increments are designed under fixed initial and final bending angles. In schedule 2, loading patterns with different initial bending angles under the fixed final bending angle are designed. Our results show that the bowing heights are significantly affected by the loading patterns. The bowing susceptibilities vary with blank shape such as trapezoid, convex, and concave shapes. In addition to the peak longitudinal strain at the respective roll stands, the cumulative longitudinal strain from the initial to final stands is shown to be a reliable index in predicting the tendency of longitudinal bowing.

24 CFR 232.525 - Note and security form.

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2010-04-01

... URBAN DEVELOPMENT MORTGAGE AND LOAN INSURANCE PROGRAMS UNDER NATIONAL HOUSING ACT AND OTHER AUTHORITIES MORTGAGE INSURANCE FOR NURSING HOMES, INTERMEDIATE CARE FACILITIES, BOARD AND CARE HOMES, AND ASSISTED... Fire Safety Equipment Eligible Security Instruments § 232.525 Note and security form. The lender shall...

75 FR 9474 - Reports, Forms, and Record Keeping Requirements; Agency Information Collection Activity Under OMB...

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2010-03-02

...: National Survey of Speeding Attitudes and Behavior: 2010. Type of Request: New information collection... motivations for speeding, knowledge of measures to deter speeding, attitudes towards measures to deter... DEPARTMENT OF TRANSPORTATION National Highway Traffic Safety Administration Reports, Forms, and...

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

Science.gov (United States)

Kelsen, Judith R; Dawany, Noor; Martinez, Alejandro; Martinez, Alejuandro; Grochowski, Christopher M; Maurer, Kelly; Rappaport, Eric; Piccoli, David A; Baldassano, Robert N; Mamula, Petar; Sullivan, Kathleen E; Devoto, Marcella

2015-11-18

Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play a more prominent role in this young population, and monogenic defects in genes related to primary immunodeficiencies are responsible for the disease in a small subset of patients with VEO-IBD. We report a child who presented at 3 weeks of life with very early-onset inflammatory bowel disease (VEO-IBD). He had a complicated disease course and remained unresponsive to medical and surgical therapy. The refractory nature of his disease, together with his young age of presentation, prompted utilization of whole exome sequencing (WES) to detect an underlying monogenic primary immunodeficiency and potentially target therapy to the identified defect. Copy number variation analysis (CNV) was performed using the eXome-Hidden Markov Model. Whole exome sequencing revealed 1,380 nonsense and missense variants in the patient. Plausible candidate variants were not detected following analysis of filtered variants, therefore, we performed CNV analysis of the WES data, which led us to identify a de novo whole gene deletion in XIAP. This is the first reported whole gene deletion in XIAP, the causal gene responsible for XLP2 (X-linked lymphoproliferative Disease 2). XLP2 is a syndrome resulting in VEO-IBD and can increase susceptibility to hemophagocytic lymphohistocytosis (HLH). This identification allowed the patient to be referred for bone marrow transplantation, potentially curative for his disease and critical to prevent the catastrophic sequela of HLH. This illustrates the unique etiology of VEO-IBD, and the subsequent effects on therapeutic options. This cohort requires careful and thorough evaluation for monogenic defects and primary immunodeficiencies.

Maslov indices, Poisson brackets, and singular differential forms

Science.gov (United States)

Esterlis, I.; Haggard, H. M.; Hedeman, A.; Littlejohn, R. G.

2014-06-01

Maslov indices are integers that appear in semiclassical wave functions and quantization conditions. They are often notoriously difficult to compute. We present methods of computing the Maslov index that rely only on typically elementary Poisson brackets and simple linear algebra. We also present a singular differential form, whose integral along a curve gives the Maslov index of that curve. The form is closed but not exact, and transforms by an exact differential under canonical transformations. We illustrate the method with the 6j-symbol, which is important in angular-momentum theory and in quantum gravity.

Stability and inheritance of photoperiod-sensitive genic male sterility in rice

International Nuclear Information System (INIS)

Zhu, Y.G.; Yu, J.H.

1990-01-01

Full text: In 1973, a photoperiod-sensitive genic male-sterile plant was discovered in Nongken 58. It is male sterile under long day conditions and fertile under short day conditions. Under the natural photoperiod in Wuhan, plants heading before September 2 are male sterile, showing typical pollen abortion. The fertility is gradually restored after September 2. About 50% of pollen grains are normal after September 6. F 1 using 30 different varieties was fertile regardless of daylength, F 2 segregated into 3 fertile: 1 sterile types under long day condition in some crosses, less clearly in other crosses. It is concluded that photoperiod depending male sterility is monogenic recessive inherited with some influence of modifier genes. Any normal variety can be used as restorer, therefore strong heterosis combinations can easily be bred. (author)

78 FR 40266 - Agency Information Collection Activity Under OMB Review; Reports, Forms and Recordkeeping...

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2013-07-03

... forwarded to the Office of Management and Budget (OMB) for review and approval. The nature of the... the U.S. Merchant Marine Academy. Form Numbers: KP2-66-DK1, KP2-67-DK2, KP3-68-DK3, KP2-69-ENG1, KP2- 70-ENG2, KP2-71-ENG3. Abstract: 46 U.S.C. 51309 authorizes the Academy to confer academic degrees. To...

Electrochemical modeling of hydrogen storage in hydride-forming electrodes

NARCIS (Netherlands)

Ledovskikh, A.; Danilov, D.; Vermeulen, P.; Notten, P.H.L.

2009-01-01

An electrochemical kinetic model (EKM) is developed, describing the electrochemical hydrogen storage in hydride-forming materials under equilibrium conditions. This model is based on first principles of electrochemical reaction kinetics and statistical thermodynamics and describes the complex,

Drug development for neurodevelopmental disorders

DEFF Research Database (Denmark)

Berry-Kravis, Elizabeth M; Lindemann, Lothar; Jønch, Aia E

2018-01-01

Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal ge......, FMR1, has been the focus of intense research. Key alterations in synaptic function thought to underlie this neurodevelopmental disorder have been characterized and rescued in animal models of FXS using genetic and pharmacological approaches. These robust preclinical findings have led...... to the implementation of the most comprehensive drug development programme undertaken thus far for a genetically defined neurodevelopmental disorder, including phase IIb trials of metabotropic glutamate receptor 5 (mGluR5) antagonists and a phase III trial of a GABAB receptor agonist. However, none of the trials has...... been able to unambiguously demonstrate efficacy, and they have also highlighted the extent of the knowledge gaps in drug development for FXS and other neurodevelopmental disorders. In this Review, we examine potential issues in the previous studies and future directions for preclinical and clinical...

A model for phase stability under irradiation

International Nuclear Information System (INIS)

Abromeit, C.

The combination of two theoretical models leads to modified criteria of stability of precipitates under heavy particle irradiation. The size of existing or under irradiation newly formed precipitates is limited by a stable radius. Precipitate surface energy effects are included in a consistent manner

77 FR 73736 - Reports, Forms, and Recordkeeping Requirements: Agency Information Collection Activity Under OMB...

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2012-12-11

... Fuel Economy (CAFE) standards for light vehicles since 1978 under the statutory authority of the Energy... saved at the pump due to improvements in fuel economy. With the 2017-2025 MY light-duty vehicle CAFE...

Incretin hormones and maturity onset diabetes of the young - pathophysiological implications and anti-diabetic treatment potential

DEFF Research Database (Denmark)

Østoft, Signe Harring

2015-01-01

Maturity onset diabetes of the young (MODY) designates monogenic forms of non-autoimmune diabetes characterised by autosomal dominant inheritance, non-insulin dependent diabetes at onset and diagnosis often before 25 years of age. MODY constitutes genetically and clinically heterogeneous forms...... of diabetes. More than 8 different genes are known to cause MODY, among which hepatocyte nuclear factor 1 alpha (HNF1A) (MODY3) and glucokinase (GCK) (MODY2) mutations are the most common. Both forms of MODY are characterised by specific beta cell dysfunction, with patients with HNF1A-diabetes having...... a reduced insulin secretory capacity, while patients with GCK-diabetes have a glucose-sensing defect, but preserved insulin secretory capacity. Patients with MODY are effectively treated with sulphonylurea (SU) due to very high sensitivity to these drugs, but they are also prone to develop hypoglycaemia...

78 FR 4858 - Agency Information Collection Activities: Immigrant Petition for Alien Workers, Form I-140...

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2013-01-23

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2012-10-30

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12 CFR 563d.210 - Form and content of financial statements.

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2010-01-01

... 12 Banks and Banking 5 2010-01-01 2010-01-01 false Form and content of financial statements. 563d... SECURITIES OF SAVINGS ASSOCIATIONS Regulations § 563d.210 Form and content of financial statements. The financial statements required to be contained in filings with the Office under the Act are as set out in the...

Theoretical investigation of radical species formed from L-α-alanine under gamma-irradiation

International Nuclear Information System (INIS)

Simion, C.

2008-01-01

Gamma-irradiated L-α-alanine used in EPR-coupled dosimetry has a complex EPR spectrum at room temperature. Changing the temperature or other conditions of the irradiated samples leads to varied EPR spectrum, i.e., some components disappear and/or new ones are formed. We used both molecular mechanics (MM+) and semiempirical (AM1) methods to perform a theoretical investigation of the seven radical species that have been experimentally detected. We established their order of priority in the given simulation conditions (at 0 K, in vacuo). The formation stages advanced for these long-lived radical species were characterized by a theoretical determination of the reaction enthalpies. (author)

Silica-forming articles having engineered surfaces to enhance resistance to creep sliding under high-temperature loading

Science.gov (United States)

Lipkin, Don Mark; Johnson, Curtis Alan; Meschter, Peter Joel; Sundaram, Sairam; Wan, Julin

2017-02-07

An article includes a silicon-containing region; at least one outer layer overlying a surface of the silicon-containing region; and a constituent layer on the surface of the silicon-containing region and between and contacting the silicon-containing region and the at least one outer layer, the constituent layer being formed by constituents of the silicon-containing region and being susceptible to creep within an operating environment of the article, wherein the silicon-containing region defines a plurality of channels and a plurality of ridges that interlock within the plurality of channels are formed in the silicon-containing region to physically interlock the at least one outer layer with the silicon-containing region through the constituent layer.

Crystal forms of the hydrogen oxalate salt of o-desmethylvenlafaxine.

Science.gov (United States)

Dichiarante, Elena; Curzi, Marco; Giaffreda, Stefano L; Grepioni, Fabrizia; Maini, Lucia; Braga, Dario

2015-06-01

To prepare new crystalline forms of the antidepressant o-desmethylvenlafaxine salt as potential new commercial forms and evaluate their physicochemical properties, in particular the dissolution rate. A new hydrogen oxalate salt of o-desmethylvenlafaxine hydrogen oxalate (ODV-OX) was synthesized, and a polymorph screening was performed using different solvents and crystallization conditions. Crystalline forms were characterized by a combination of solid-state techniques: X-ray powder diffraction, differential scanning calorimetry, thermogravimetric analysis, FT-IR spectroscopy and single crystal X-ray diffraction. The stability of all crystalline phases was tested under International Conference on Harmonisation (ICH) conditions (40°C and 75% Relative Humidity (RH)) for 1 week. Dissolution tests were performed on the hydrogen oxalate salt ODV-OX Form 1 and compared with dissolution test on the commercial form of the succinate salt of o-desmethylvenlafaxine. Five crystalline forms of ODV-OX were isolated, namely three hydrated forms (Form 1, Form 2, Form 3) and two anhydrous forms (Form 4 and Form 5). Comparative solubility tests on ODV-OX Form 1 and o-desmethylvenlafaxine succinate evidenced a significant increase in solubility for the hydrogen oxalate salt (142 g/l) with respect to the succinate salt (70 g/l). © 2015 Royal Pharmaceutical Society.

Behaviour of intermediate-level waste forms in an aqueous environment

International Nuclear Information System (INIS)

Amarantos, S.; DeBatist, R.; Brodersen, K.; Glasser, F.P.; Pottier, P.E.; Vejmelka, R.; Zamorani, E.

1985-01-01

Under Action 1 of the Second Community Programme (1980-1984), study continued of the behavoiur of low and medium activity waste matrices using 10 reference waste forms (RWFs) representative of the main waste packages produced in the Community. The aim of this paper is to outline the main results for three types of matrix: cement and derived forms, organic polymers and bitumens. The results include data on diffusion coefficients, leach rates and waste form volume changes and mass losses. They constitute a considerable advance in knowledge of confinement properties but bring to light the need for further study of radionuclide release mechanisms for the purpose of constructing long-term models of waste form behaviour in the presence of water

Bedforms formed by experimental supercritical density flows

Science.gov (United States)

Naruse, Hajime; Izumi, Norihiro; Yokokawa, Miwa; Muto, Tetsuji

2014-05-01

This study reveals characteristics and formative conditions of bedforms produced by saline density flows in supercritical flow conditions, especially focusing on the mechanism of the formation of plane bed. The motion of sediment particles forming bedforms was resolved by high-speed cameras (1/1000 frame/seconds). Experimental density flows were produced by mixtures of salt water (1.01-1.04 in density) and plastic particles (1.5 in specific density, 140 or 240 mm in diameter). Salt water and plastic particles are analogue materials of muddy water and sand particles in turbidity currents respectively. Acrylic flume (4.0 m long, 2.0 cm wide and 0.5 m deep) was submerged in an experimental tank (6.0 m long, 1.8 m wide and 1.2 m deep) that was filled by clear water. Features of bedforms were observed when the bed state in the flume reached equilibrium condition. The experimental conditions range 1.5-4.2 in densimetric Froude number and 0.2-0.8 in Shields dimensionless stress. We report the two major discoveries as a result of the flume experiments: (1) Plane bed under Froude-supercritical flows and (2) Geometrical characteristics of cyclic steps formed by density flows. (1) Plane bed was formed under the condition of supercritical flow regime. In previous studies, plane bed has been known to be formed by subcritical unidirectional flows (ca. 0.8 in Froude number). However, this study implies that plane bed can also be formed by supercritical conditions with high Shields dimensionless stress (>0.4) and very high Froude number (> 4.0). This discovery may suggest that previous estimations of paleo-hydraulic conditions of parallel lamination in turbidites should be reconsidered. The previous experimental studies and data from high-speed camera suggest that the region of plane bed formation coincides with the region of the sheet flow developments. The particle transport in sheet flow (thick bedload layer) induces transform of profile of flow shear stress, which may be

7 CFR 54.1015 - Official reports, forms, and certificates.

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2010-01-01

... MARKETING SERVICE (Standards, Inspections, Marketing Practices), DEPARTMENT OF AGRICULTURE (CONTINUED) REGULATIONS AND STANDARDS UNDER THE AGRICULTURAL MARKETING ACT OF 1946 AND THE EGG PRODUCTS INSPECTION ACT..., Processing, and Packaging of Livestock and Poultry Products § 54.1015 Official reports, forms, and...

Handling technique of spore-forming bacteria in radiation sterilization. 1. Preparation of spores

International Nuclear Information System (INIS)

Koshikawa, Tomihiko

1994-01-01

This paper deals with a handling technique of spore-forming bacteria in radiation sterilization. An explanation is given under three sections: (1) life cycle of spore-forming bacteria, medium to form bacterial spores, and colony and purification methods of bacterial spores; (2) methods for measuring the number of bacterial spores and resistance against gamma radiation (D values); and (3) a test method for identifying spore-forming bacteria and a simple identification method. (N.K.)

Critical Wave Forms in Dry Type Transformers

DEFF Research Database (Denmark)

Pedersen, Kenneth; Holbøll, Joachim; Henriksen, Mogens

2005-01-01

This paper concerns critical wave forms in dry type transformers under transient voltage application. A very general approach has been applied, meaning that many of the results will be applicable to various types of power transformers. The results can be very useful if they are combined...... with knowledge of the ageing effects of the insulation. Especially fast transients are likely to become a major issue due to fast breakers and power electronics. In order to perform relevant research in transformer insulation with respect to this subject, fundamental knowledge about the transmission...... and distortion of incoming transients is required. Thus, in this paper it is illustrated how the resulting internal wave forms are affected by different transformer characteristics....

Evaluation of E2 form factor = 24Mg

International Nuclear Information System (INIS)

Marinelli, J.R.; Moreira, J.R.

1988-11-01

Longitudinal and transverse electron scattering form factors for the 2 + state at 1.37 Mev of the 24 Mg nucleus was evaluated with rotational model wavefunctions. Four different approaches were used for the transverse E2 form factor: PHF, cranking model, ridig rotor and irrotational flow. For the nuclear intrinsic wavefunction, the Nilsson model was assumed in all approaches yielding the calculation of the form factor in PWBA and DWBA. The results are discussed and compared with a recent measurement performed with 180 0 electron scattered from this state. The DWBA calculation, taking into account first order corrections shows that PHF and irrotational flow models give the best agreements with the available data and compete in quality with more complex calculation performed under the 'shell model' approach. (author) [pt

Review of friction modeling in metal forming processes

DEFF Research Database (Denmark)

Nielsen, C.V.; Bay, N.

2018-01-01

Abstract In metal forming processes, friction between tool and workpiece is an important parameter influencing the material flow, surface quality and tool life. Theoretical models of friction in metal forming are based on analysis of the real contact area in tool-workpiece interfaces. Several...... research groups have studied and modeled the asperity flattening of workpiece material against tool surface in dry contact or in contact interfaces with only thin layers of lubrication with the aim to improve understanding of friction in metal forming. This paper aims at giving a review of the most...... conditions, normal pressure, sliding length and speed, temperature changes, friction on the flattened plateaus and deformation of the underlying material. The review illustrates the development in the understanding of asperity flattening and the methods of analysis....

Knowledge Based Cloud FE Simulation of Sheet Metal Forming Processes.

Science.gov (United States)

Zhou, Du; Yuan, Xi; Gao, Haoxiang; Wang, Ailing; Liu, Jun; El Fakir, Omer; Politis, Denis J; Wang, Liliang; Lin, Jianguo

2016-12-13

The use of Finite Element (FE) simulation software to adequately predict the outcome of sheet metal forming processes is crucial to enhancing the efficiency and lowering the development time of such processes, whilst reducing costs involved in trial-and-error prototyping. Recent focus on the substitution of steel components with aluminum alloy alternatives in the automotive and aerospace sectors has increased the need to simulate the forming behavior of such alloys for ever more complex component geometries. However these alloys, and in particular their high strength variants, exhibit limited formability at room temperature, and high temperature manufacturing technologies have been developed to form them. Consequently, advanced constitutive models are required to reflect the associated temperature and strain rate effects. Simulating such behavior is computationally very expensive using conventional FE simulation techniques. This paper presents a novel Knowledge Based Cloud FE (KBC-FE) simulation technique that combines advanced material and friction models with conventional FE simulations in an efficient manner thus enhancing the capability of commercial simulation software packages. The application of these methods is demonstrated through two example case studies, namely: the prediction of a material's forming limit under hot stamping conditions, and the tool life prediction under multi-cycle loading conditions.

76 FR 81517 - Agency Information Collection Activities: Form I-131, Revision of an Existing Information...

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2011-12-28

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2012-03-16

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ANTISTAPHYLOCOCCAL ACTIVITY OF LIPOSOMAL FORMS OF LINCOMYCIN

Directory of Open Access Journals (Sweden)

Derkach SA

2015-04-01

Full Text Available Nowadays the vital problem of modern medicine is a tendency to emerging of both nosocomial and community-acquired strains before antibiotic resistance forming. The complexity of antibiotic therapy of diseases caused by methicillin resistant staphylococci having high poly resistance almost to every classes of antibacterial agents is of prime importance. One of the ways to improve antibacterial preparations still remains the development of their liposomal forms. This work studies antistaphylococcal activity (according to MIC of the liposomal form of lincomycin developed in the Institute of Dermatology and Venereology of Ukraine by Ivanova N. N., the Candidate of Сhemical Sciences.The purpose of this research work was to study liposomal inhibiting concentration of the liposomalny form of lincomycin and a commercial preparation lincomycin (produced by CJSC “Pharmaceutical firm "Darnitsa". Determination of the minimum inhibiting concentration was carried out by a tablet micromethod by consecutive cultivations of the samples under study.It is shown that MIC of liposomal lincomycin is eight times as low as usual lincomycin (0,23mkg/ml to 1,87 mkg/ml. Antibacterial activity of the liposomal form of lincomycin is studied concerning the patients selected from the different biotopes with pyo inflammatory diseases of staphylococcus strains (15 strains – methicillin sensitive, 12 strains - methicillin resistant.It is shown authentically the higher sensitivity of S. aureus strains to the liposomal form of lincomycin in comparison with usual lincomycin . Also 50.0% of MRSA strains were sensitive to the liposomalny form of lincomycin that shows the perspective for the development of the liposomal forms of antibiotics to cure staphylococcal infections.

L-tyrosine induces the production of a pyomelanin-like pigment by the parasitic yeast-form of Histoplasma capsulatum.

Science.gov (United States)

Almeida-Paes, Rodrigo; Almeida-Silva, Fernando; Pinto, Gabriela Costa Maia; Almeida, Marcos de Abreu; Muniz, Mauro de Medeiros; Pizzini, Claudia Vera; Gerfen, Gary J; Nosanchuk, Joshua Daniel; Zancopé-Oliveira, Rosely Maria

2018-06-01

Melanization of Histoplasma capsulatum remains poorly described, particularly in regards to the forms of melanin produced. In the present study, 30 clinical and environmental H. capsulatum strains were grown in culture media with or without L-tyrosine under conditions that produced either mycelial or yeast forms. Mycelial cultures were not melanized under the studied conditions. However, all strains cultivated under yeast conditions produced a brownish to black soluble pigment compatible with pyomelanin when grew in presence of L-tyrosine. Sulcotrione inhibited pigment production in yeast cultures, strengthening the hyphothesis that H. capsulatum yeast forms produce pyomelanin. Since pyomelanin is produced by the fungal parasitic form, this pigment may be involved in H. capsulatum virulence.

Raman spectroscopy used for structural investigations of anodically formed ZrO2

International Nuclear Information System (INIS)

Koneska, Zagorka; Arsova, Irena

2003-01-01

The structure of the oxide formed on Zr(99% + Hf) with anodic oxidation at different potentials in 1 mol/dm 3 H 3 PO 4 and 2 mol/dm 3 KOH solutions were investigated using Raman spectroscopy. Normally the anodic oxides of Zr form only crystals. Under certain circumstances, amorphous anodic ZrO 2 can be observed. Amorphous phase is observed for the anodically formed zirconium oxides in H 3 PO 4 . The oxide formed in KOH at potential of 80 V, where sparks appears on the Zr electrode showed crystalline structure. (Original)

MLKL forms disulfide bond-dependent amyloid-like polymers to induce necroptosis.

Science.gov (United States)

Liu, Shuzhen; Liu, Hua; Johnston, Andrea; Hanna-Addams, Sarah; Reynoso, Eduardo; Xiang, Yougui; Wang, Zhigao

2017-09-05

Mixed-lineage kinase domain-like protein (MLKL) is essential for TNF-α-induced necroptosis. How MLKL promotes cell death is still under debate. Here we report that MLKL forms SDS-resistant, disulfide bond-dependent polymers during necroptosis in both human and mouse cells. MLKL polymers are independent of receptor-interacting protein kinase 1 and 3 (RIPK1/RIPK3) fibers. Large MLKL polymers are more than 2 million Da and are resistant to proteinase K digestion. MLKL polymers are fibers 5 nm in diameter under electron microscopy. Furthermore, the recombinant N-terminal domain of MLKL forms amyloid-like fibers and binds Congo red dye. MLKL mutants that cannot form polymers also fail to induce necroptosis efficiently. Finally, the compound necrosulfonamide conjugates cysteine 86 of human MLKL and blocks MLKL polymer formation and subsequent cell death. These results demonstrate that disulfide bond-dependent, amyloid-like MLKL polymers are necessary and sufficient to induce necroptosis.

Solidification Sequence of Spray-Formed Steels

Science.gov (United States)

Zepon, Guilherme; Ellendt, Nils; Uhlenwinkel, Volker; Bolfarini, Claudemiro

2016-02-01

Solidification in spray-forming is still an open discussion in the atomization and deposition area. This paper proposes a solidification model based on the equilibrium solidification path of alloys. The main assumptions of the model are that the deposition zone temperature must be above the alloy's solidus temperature and that the equilibrium liquid fraction at this temperature is reached, which involves partial remelting and/or redissolution of completely solidified droplets. When the deposition zone is cooled, solidification of the remaining liquid takes place under near equilibrium conditions. Scanning electron microscopy (SEM) and optical microscopy (OM) were used to analyze the microstructures of two different spray-formed steel grades: (1) boron modified supermartensitic stainless steel (SMSS) and (2) D2 tool steel. The microstructures were analyzed to determine the sequence of phase formation during solidification. In both cases, the solidification model proposed was validated.

ELEMENTAL FORMS OF HOSPITALITY

Directory of Open Access Journals (Sweden)

Maximiliano Emanuel Korstanje

2010-11-01

Full Text Available Modern studies emphasized on the needs of researching the hospitality as relevant aspects of tourism and hospitality fields. Anyway, these approaches are inextricably intertwined to the industry of tourism and do not take seriously the anthropological and sociological roots of hospitality. In fact, the hotel seems to be a partial sphere of hospitality at all. Under this context, the present paper explores the issue of hospitality enrooted in the political and economic indo-European principle of free-transit which is associated to a much broader origin.  Starting from the premise etymologically hostel and hospital share similar origins, we follow the contributions of J Derrida to determine the elements that formed the hospitality up to date.

Formation of lysinoalanine in egg white under alkali treatment.

Science.gov (United States)

Zhao, Yan; Luo, Xuying; Li, Jianke; Xu, Mingsheng; Tu, Yonggang

2016-03-01

To investigate the formation mechanism of lysinoalanine (LAL) in eggs during the alkali treatment process, NaOH was used for the direct alkali treatment of egg white, ovalbumin, and amino acids; in addition, the amount of LAL formed during the alkali treatment process was measured. The results showed that the alkali treatment resulted in the formation of LAL in the egg white. The LAL content increased with increasing pH and temperature, with the LAL content first increasing and then leveling off with increasing time. The amount of LAL formed in the ovalbumin under the alkali treatment condition accounted for approximately 50.51% to 58.68% of the amount of LAL formed in the egg white. Thus, the LAL formed in the ovalbumin was the main source for the LAL in the egg white during the alkali treatment process. Under the alkali treatment condition, free L-serine, L-cysteine, and L-cystine reacted with L-lysine to form LAL; therefore, they are the precursor amino acids of LAL formed in eggs during the alkali treatment process. © 2016 Poultry Science Association Inc.

Forming Artistic-Design Competency of Vocational Design Teacher

Science.gov (United States)

Falco, Vera P.; Fedorov, Vladimir A.; Dorozhkin, Evgenij M.; Merkushova, Nina I.; Bakanach, Olga V.

2016-01-01

The relevance of the problem under study is based on the necessity to achieve effectiveness of the learning process aimed at forming a competent specialist and ensuring the quality of training of vocational teacher of a certain subject (design). The aim of the article is to provide theoretical substantiation, to elaborate and to test the…

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2011-03-08

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2012-03-13

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2012-06-07

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2010-11-30

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An application of stress energy tensor to the vanishing theorem of differential forms

Directory of Open Access Journals (Sweden)

Kairen Cai

1988-01-01

Full Text Available The author applies the stress energy of differential forms to study the vanishing theorems of the Liouville type. It is shown that for a large class of underlying manifolds such as the Euclidean n-space, the complex n-space, and the complex hyperbolic space form, if any vector bundle valued p-form with conservative stress energy tensor is of finite norm or slowly divergent norm, then the p-form vanishes. This generalizes the recent results due to Hu and Sealey.

Testing the Weak Form Efficiency in Pakistan’s Equity, Badla and Money Markets

OpenAIRE

Rashid, Abdul; Husain, Fazal

2009-01-01

The paper test the weak form market efficient hypothesis for Pakistan’s equity, badla and money markets with an aim to investigate which one of them is most efficient in the weak form sense. The analysis provides evidence, under the assumption of heteroscedasticity, that the KSE is weak-form efficient over the full-length sample period. Nevertheless, the analysis reports that over the same period the other two markets viz. badla and money are not weak form efficient. The badla market was effi...

Dysregulated homeostasis of target tissues or autoantigens - A novel principle in autoimmunity.

Science.gov (United States)

Petersen, Frank; Yue, Xiaoyang; Riemekasten, Gabriela; Yu, Xinhua

2017-06-01

Monogenic autoimmune disorders provide a powerful tool for our understanding of the principles of autoimmunity due to the obvious impact of a single gene on the disease. So far, approximately 100 single gene defects causing murine monogenic autoimmune disorders have been reported and the functional characterization of these genes will provide significant progress in understanding the nature of autoimmunity. According to their function, genes leading to monogenic autoimmune disorders can be categorized into two groups. An expectable first group contains genes involved in the homeostasis of the immune system, including homeostasis of immune organs and immune cells. Intriguingly, the second group consists of genes functionally involved in the homeostasis of target tissues or autoantigens. According to our novel hypothesis, we propose that autoimmunity represents a consequence of a dysregulated homeostasis of the immune system and/or its targets including autoantigens and target tissues. In this review we refer to both aspects of homeostasis in autoimmunity with a highlight on the role of the homeostasis of target tissues and autoantigens. Copyright © 2017 Elsevier B.V. All rights reserved.

Pros and cons of multistory RC tunnel-form (box-type) buildings

Science.gov (United States)

Kalkan, E.; Yuksel, S.B.

2008-01-01

Tunnel-form structural systems (i.e., box systems), having a load-carrying mechanism composed of reinforced concrete (RC) shear walls and slabs only, have been prevailingly utilized in the construction of multistory residential units. The superiority of tunnel-form buildings over their conventional counterparts stems from the enhanced earthquake resistance they provide, and the considerable speed and economy of their construction. During recent earthquakes in Turkey, they exhibited better seismic performance in contrast to the damaged condition of a number of RC frames and dual systems (i.e., RC frames with shear wall configurations). Thus the tunnel-form system has become a primary construction technique in many seismically active regions. In this paper, the strengths and weaknesses of tunnel-form buildings are addressed in terms of design considerations and construction applications. The impacts of shear wall reinforcement ratio and its detailing on system ductility, loadcarrying capacity and failure mechanism under seismic forces are evaluated at section and global system levels. Influences of tension/compression coupling and wall openings on the response are also discussed. Three-dimensional nonlinear finite element models, verified through comparisons with experimental results, were used for numerical assessments. Findings from this projection provide useful information on adequate vertical reinforcement ratio and boundary reinforcement to achieve enhanced performance of tunnel-form buildings under seismic actions. Copyright ?? 2007 John Wiley & Sons, Ltd.

Cold Forming of Ni-Ti Shape Memory Alloy Sheet

Science.gov (United States)

Fann, Kaung-Jau; Su, Jhe-Yung

2018-03-01

Ni-Ti shape memory alloy has two specific properties, superelasiticity and shape memory effect, and thus is widely applied in diverse industries. To extend its further application, this study attempts to investigate the feasibility of cold forming its sheet blank especially under a bi-axial tensile stress state. Not only experiments but also a Finite Element Analysis (FEA) with DEFORM 2D was conducted in this study. The material data for FEA was accomplished by the tensile test. An Erichsen-like cupping test was performed as well to determine the process parameter for experiment setup. As a result of the study, the Ni-Ti shape memory alloy sheet has a low formability for cold forming and shows a relative large springback after releasing the forming load.

Automobile sheet metal part production with incremental sheet forming

Directory of Open Access Journals (Sweden)

İsmail DURGUN

2016-02-01

Full Text Available Nowadays, effect of global warming is increasing drastically so it leads to increased interest on energy efficiency and sustainable production methods. As a result of adverse conditions, national and international project platforms, OEMs (Original Equipment Manufacturers, SMEs (Small and Mid-size Manufacturers perform many studies or improve existing methodologies in scope of advanced manufacturing techniques. In this study, advanced manufacturing and sustainable production method "Incremental Sheet Metal Forming (ISF" was used for sheet metal forming process. A vehicle fender was manufactured with or without die by using different toolpath strategies and die sets. At the end of the study, Results have been investigated under the influence of method and parameters used.Keywords: Template incremental sheet metal, Metal forming

Dry patch formed boiling and burnout in potassium pool boiling

International Nuclear Information System (INIS)

Michiyoshi, I.; Takenaka, N.; Takahashi, O.

1986-01-01

Experimental results are presented on dry patch formed boiling and burnout in saturated potassium pool boiling on a horizontal plane heater for system pressures from 30 to 760 torr and liquid levels from 5 to 50 mm. The dry patch formation occurs in the intermittent boiling which is often encountered when liquid alkali metals are used under relatively low pressure conditions. Burnout is caused from both continuous nucleate and dry patch formed boiling. The burnout heat flux together with nucleate boiling heat transfer coefficients are empirically correlated with system pressures. A model is also proposed to predict the minimum heat flux to form the dry patch. (author)

Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika

DEFF Research Database (Denmark)

Hansen, Torben; Urhammer, Søren A; Pedersen, Oluf Borbye

2002-01-01

Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of type 2 diabetes characterised by an early onset, an autosomal dominant inheritance, and a primary defect in insulin secretion. MODY comprises 2-5% of cases of type 2 diabetes. So far, six MODY genes...... have been identified (MODY1-6): hepatocyte nuclear factor (HNF-4 alpha), glucokinase, HNF-1 alpha, HNF-1 beta, insulin promoter factor 1(IPF-1), and neurogenic differentiation factor 1 (NEUROD1). MODY2 and MODY3 are the most common forms of MODY. Mutations in glucokinase/MODY2 result in a mild form...... of diabetes. In contrast, MODY3 and some of the other MODY forms are characterised by major insulin secretory defects and severe hyperglycaemia associated with microvascular complications. About 25% of known MODY is caused by mutations in yet unknown genes and present results suggest that other monogenic...

An in-process form error measurement system for precision machining

International Nuclear Information System (INIS)

Gao, Y; Huang, X; Zhang, Y

2010-01-01

In-process form error measurement for precision machining is studied. Due to two key problems, opaque barrier and vibration, the study of in-process form error optical measurement for precision machining has been a hard topic and so far very few existing research works can be found. In this project, an in-process form error measurement device is proposed to deal with the two key problems. Based on our existing studies, a prototype system has been developed. It is the first one of the kind that overcomes the two key problems. The prototype is based on a single laser sensor design of 50 nm resolution together with two techniques, a damping technique and a moving average technique, proposed for use with the device. The proposed damping technique is able to improve vibration attenuation by up to 21 times compared to the case of natural attenuation. The proposed moving average technique is able to reduce errors by seven to ten times without distortion to the form profile results. The two proposed techniques are simple but they are especially useful for the proposed device. For a workpiece sample, the measurement result under coolant condition is only 2.5% larger compared with the one under no coolant condition. For a certified Wyko test sample, the overall system measurement error can be as low as 0.3 µm. The measurement repeatability error can be as low as 2.2%. The experimental results give confidence in using the proposed in-process form error measurement device. For better results, further improvement in design and tests are necessary

Study on Hydroforming of Magnesium Alloy Tube under Temperature Condition

Science.gov (United States)

Wang, Xinsong; Wang, Shouren; Zhang, Yongliang; Wang, Gaoqi; Guo, Peiquan; Qiao, Yang

2018-01-01

First of all, under 100 °C, 150 °C, 200 °C, 250 °C, 300 °C and 350 °C, respectively do the test of magnesium alloy AZ31B temperature tensile and the fracture of SEM electron microscopic scanning, studying the plastic forming ability under six different temperature. Secondly, observe and study the real stress-strain curves and fracture topography. Through observation and research can concluded that with the increase of temperature, the yield strength and tensile strength of AZ31B was increased, and the elongation rate and the plastic deformation capacity are increased obviously. Taking into account the actual production, energy consumption, and mold temperature resistance, 250 °Cwas the best molding temperature. Finally, under the temperature condition of 250 °C, the finite element simulation and simulation of magnesium alloy profiled tube were carried out by Dynaform, and the special wall and forming limit diagram of magnesium alloy were obtained. According to the forming wall thickness and forming limit diagram, the molding experiment can be optimized continuously.

78 FR 16039 - Reports, Forms, and Record Keeping Requirements

Science.gov (United States)

2013-03-13

... market forces. For over 30 years, under its New Car Assessment Program, NHTSA has been providing...: What to look for when buying a new vehicle'' and ``Buying a Safer Car for Child Passengers'' brochures... automated collection techniques or other forms of information technology. Comments to OMB are most effective...

Rotavirus infection in children: mono-and combines forms, especially clinics and course

Directory of Open Access Journals (Sweden)

N. B. Denisyuk

2012-01-01

Full Text Available Analyzed 74 case histories of children under one year with rotavirus infection. The most commonly detected rotavirus gastroenteritis in the form of mono-and combined forms. Mono-infection in 78.3% of cases occurred in the moderate form with a leading syndrome in the form of gastroenteritis, severe dehydration proceeded with symptoms of varying severity. Mixed variants in 98.7% of cases are in the unfavorable premorbid background, in 42.8% of children were registered in the severe forms, and children younger than 6 months were erased within. The diagnosis of intestinal infection was confirmed by PCR, bacteriological and immunological methods.

Creation and cessation of the land ownership right - legal forms

OpenAIRE

Celerýn, Jakub

2009-01-01

I chose for my diploma thesis the theme which is called "Creation and cessation of the land ownership right - legal forms". The aim of the work is to give complex and complete description of basic legal forms of acquiring ownership right to land. The presented work is divided into ten chapters. The first part (second chapter) of the diploma thesis determines the concepts of "ownership", "real estate", "land", "plot" etc. According to Czech law concept of "real estate" means mainly under groun...

Numerical simulation of X90 UOE pipe forming process

Science.gov (United States)

Zou, Tianxia; Ren, Qiang; Peng, Yinghong; Li, Dayong; Tang, Ding; Han, Jianzeng; Li, Xinwen; Wang, Xiaoxiu

2013-12-01

The UOE process is an important technique to manufacture large-diameter welding pipes which are increasingly applied in oil pipelines and offshore platforms. The forming process of UOE mainly consists of five successive operations: crimping, U-forming, O-forming, welding and mechanical expansion, through which a blank is formed into a pipe in a UOE pipe mill. The blank with an appropriate edge bevel is bent into a cylindrical shape by crimping (C-forming), U-forming and O-forming successively. After the O-forming, there is an open-seam between two ends of the plate. Then, the blank is welded by automatic four-electrode submerged arc welding technique. Subsequently, the welded pipe is expanded with a mechanical expander to get a high precision circular shape. The multiple operations in the UOE mill make it difficult to control the quality of the formed pipe. Therefore, process design mainly relies on experience in practical production. In this study, the UOE forming of an API X90 pipe is studied by using finite element simulation. The mechanical properties tests are performed on the API X90 pipeline steel blank. A two-dimensional finite element model under the hypothesis of plane strain condition is developed to simulate the UOE process according to data coming from the workshop. A kinematic hardening model is used in the simulation to take the Bauschinger effect into account. The deformation characteristics of the blank during the forming processes are analyzed. The simulation results show a significant coherence in the geometric configurations comparing with the practical manufacturing.

Arctic observers: Richard King, monogenism and the historicisation of Inuit through travel narratives.

Science.gov (United States)

Sera-Shriar, Efram

2015-06-01

In 1848 the ethnologist, surgeon and Arctic explorer Richard King (1810-1876) published a three-part series on Inuit in the Journal of the Ethnological Society of London. This series provided a detailed history of Inuit from the eleventh century to the early nineteenth century. It incorporated a mixture of King's personal observations from his experience travelling to the Arctic as a member of George Back's expedition (1833-1835), and the testimonies of other contemporary and historical actors who had written on the subject. The aim was to historicise Inuit through the use of travel reports and show persistent features among the race. King was a monogenist and his sensitive recasting of Inuit was influenced by his participation in a research community actively engaged in humanitarian and abolitionist causes. The physician and ethnologist Thomas Hodgkin (1798-1866) argued that King's research on Inuit was one of the best ethnological approaches to emulate and that it set the standard for the nascent discipline. If we are to take seriously Hodgkin's claim, we should look at how King constructed his depiction of Inuit. There is much to be gained by investigating the practices of nineteenth-century ethnologists because it strengthens our knowledge of the discipline's past and shows how modern understandings of races were formed. Copyright © 2015 Elsevier Ltd. All rights reserved.

Spent fuel and high level waste: Chemical durability and performance under simulated repository conditions. Results of a coordinated research project 1998-2004. Part 2: Results of a previously unpublished CRP: Performance of high level waste forms and packages under repository conditions. Results of a co-ordinated research project 1991-1998

International Nuclear Information System (INIS)

2007-07-01

The objective of the CRP (Coordinated Research Projekt) on the 'Performance of High Level Waste Forms and Packages under Repository Conditions' was to contribute to the development and implementation of proper and sound technologies for HLW and spent fuel management. Special emphasis was given to the identification of various waste form properties and the study of their long term durability in simulated repository conditions. Another objective was to promote the co-operation and exchange of information between Member States on experimental concerning behaviour of the waste form. The CRP was composed of research contracts and agreements with Argentina, Australia, Belgium, Canada, China, Czech Republic, Finland, France, Germany, India, Japan, Russia, and the United States of America. The publication includes 14 individual contributions of the participants to the CRP, which are indexed separately.

Characterization of oxide films formed on steels in a BWR environment

International Nuclear Information System (INIS)

Honda, Takashi; Ohashi, Kenya; Kashimura, Eiji; Furutani, Yasumasa

1988-01-01

Environmental effects on corrosion bahaviors and properties of oxide films were evaluated for austenitic stainless and carbon steels in high-temperature water simulating a Boiling Water Reactor condition. The existence ratios of Cr and OH - in oxide films formed on stainless steel decreased and those of Fe, Ni and O 2- increased with increases of temperature and dissolved oxygen concentration. Changes of pH in the test region did not affect the composition of these species. These results indicated that Cr tended to combine with OH - , i.e., Cr existed as hydroxides or oxyhydroxides. Further, Fe and Ni tended to form spinel type oxides, which were indentified by XRD. In addition, the corrosion resistance of stainless steel was higher than that of carbon steel in all environments. The protectivity of magnetite films on carbon steel increased with temperature, dissolved oxygen concentration and pH. However, Ni ferrite, formed on stainless steel, further improved the corrosion resistance under such conditions. On the other hand, as the solubility of magnetite increased with decreases in the above mentioned factors, the corrosion resistance of carbon steel decreased. But, even under such conditions Cr, contained in stainless steel, tended to form stable films and suppressed corrosion. (author)

[Epidemiology and causes of Parkinson's disease].

Science.gov (United States)

Lill, C M; Klein, C

2017-04-01

Parkinson's disease (PD) is the second most common neurodegenerative disease and has a growing socioeconomic impact due to demographic changes in the industrial nations. There are several forms of PD, a fraction of which (parkinsonism including three autosomal dominantly (SNCA, LRRK2, VPS35) and three autosomal recessively inherited ones (Parkin, PINK1, DJ-1). In addition, there are a plethora of genes causing atypical forms of parkinsonism. In contrast, idiopathic PD is of a multifactorial nature. Genome-wide association studies have established a total of 26 genetic loci for this form of the disease; however, for most of these loci the underlying functional genetic variants have not yet been identified and the respective disease mechanisms remain unresolved. Furthermore, there are a number of environmental and life style factors that are associated with idiopathic PD. Exposure to pesticides and possibly a history of head trauma represent genuine risk factors. Other PD-associated factors, such as smoking and intake of coffee and alcohol may not represent risk factors per se and the cause-effect relationship has not yet been elucidated for most of these factors. A patient with a positive family history and/or an early age of disease onset should undergo counseling with respect to a possible monogenic form of the disease. Disease prediction based on genetic, environmental and life style factors is not yet possible for idiopathic PD and potential gene-specific therapies are currently in the development or early testing phase.

Combined Waste Form Cost Trade Study

International Nuclear Information System (INIS)

Gombert, Dirk; Piet, Steve; Trickel, Timothy; Carter, Joe; Vienna, John; Ebert, Bill; Matthern, Gretchen

2008-01-01

A new generation of aqueous nuclear fuel reprocessing, now in development under the auspices of the DOE Office of Nuclear Energy (NE), separates fuel into several fractions, thereby partitioning the wastes into groups of common chemistry. This technology advance enables development of waste management strategies that were not conceivable with simple PUREX reprocessing. Conventional wisdom suggests minimizing high level waste (HLW) volume is desirable, but logical extrapolation of this concept suggests that at some point the cost of reducing volume further will reach a point of diminishing return and may cease to be cost-effective. This report summarizes an evaluation considering three groupings of wastes in terms of cost-benefit for the reprocessing system. Internationally, the typical waste form for HLW from the PUREX process is borosilicate glass containing waste elements as oxides. Unfortunately several fission products (primarily Mo and the noble metals Ru, Rh, Pd) have limited solubility in glass, yielding relatively low waste loading, producing more glass, and greater disposal costs. Advanced separations allow matching the waste form to waste stream chemistry, allowing the disposal system to achieve more optimum waste loading with improved performance. Metals can be segregated from oxides and each can be stabilized in forms to minimize the HLW volume for repository disposal. Thus, a more efficient waste management system making the most effective use of advanced waste forms and disposal design for each waste is enabled by advanced separations and how the waste streams are combined. This trade-study was designed to juxtapose a combined waste form baseline waste treatment scheme with two options and to evaluate the cost-benefit using available data from the conceptual design studies supported by DOE-NE

75 FR 51093 - Agency Information Collection Activities: Form I-864, Form I-864A, Form I-864EZ, and Form I-864W...

Science.gov (United States)

2010-08-18

... DEPARTMENT OF HOMELAND SECURITY U.S. Citizenship and Immigration Services Agency Information... of Homeland Security, U.S. Citizenship and Immigration Services (USCIS) will be submitting the...: Form I-864, Form I-864A, Form I-864EZ, and Form I-864W; U.S. Citizenship and Immigration Services...

Confined catalysis under two-dimensional materials

OpenAIRE

Li, Haobo; Xiao, Jianping; Fu, Qiang; Bao, Xinhe

2017-01-01

Small spaces in nanoreactors may have big implications in chemistry, because the chemical nature of molecules and reactions within the nanospaces can be changed significantly due to the nanoconfinement effect. Two-dimensional (2D) nanoreactor formed under 2D materials can provide a well-defined model system to explore the confined catalysis. We demonstrate a general tendency for weakened surface adsorption under the confinement of graphene overlayer, illustrating the feasible modulation of su...

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaSummary

Directory of Open Access Journals (Sweden)

Abdul Elkadri

2015-07-01

Full Text Available Background & Aims: Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole-exome sequencing (WES to examine genetics in a patient with a distinct severe form of protein-losing enteropathy (PLE characterized by hypoproteinemia, hypoalbuminemia, and hypertriglyceridemia. Methods: WES was performed at the Centre for Applied Genomics, Hospital for Sick Children, Toronto, Canada, and exome library preparation was performed with the Ion Torrent AmpliSeq RDY Exome Kit. Functional studies were based on the identified mutation. Results: Using WES we identified a homozygous nonsense mutation (1072C>T; p.Arg358* in the PLVAP (plasmalemma vesicle-associated protein gene in an infant from consanguineous parents who died at 5 months of age of severe PLE. Functional studies determined that the mutated PLVAP mRNA and protein were not expressed in the patient biopsy tissues, presumably secondary to nonsense-mediated mRNA decay. Pathological analysis showed that the loss of PLVAP resulted in disruption of endothelial fenestrated diaphragms. Conclusions: The PLVAP p.Arg358* mutation resulted in the loss of PLVAP expression with subsequent deletion of the diaphragms of endothelial fenestrae, which led to plasma protein extravasation, PLE, and ultimately death. Keywords: Endothelium, Fenestrae, Hypertriglyceridemia, Hypoalbuminemia, Hypoproteinemia, Very Early Onset Inflammatory Bowel Disease, Monogenic Diseases, Protein-Losing Enteropathy, Whole-Exome Sequencing

Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1.

Science.gov (United States)

Sedman, Tuuli; Rünkorg, Kertu; Krass, Maarja; Luuk, Hendrik; Plaas, Mario; Vasar, Eero; Volke, Vallo

2016-01-01

Wolfram syndrome 1 is a very rare monogenic disease resulting in a complex of disorders including diabetes mellitus. Up to now, insulin has been used to treat these patients. Some of the monogenic forms of diabetes respond preferentially to sulphonylurea preparations. The aim of the current study was to elucidate whether exenatide, a GLP-1 receptor agonist, and glipizide, a sulphonylurea, are effective in a mouse model of Wolfram syndrome 1. Wolframin-deficient mice were used to test the effect of insulin secretagogues. Wolframin-deficient mice had nearly normal fasting glucose levels but developed hyperglycaemia after glucose challenge. Exenatide in a dose of 10 μg/kg lowered the blood glucose level in both wild-type and wolframin-deficient mice when administered during a nonfasted state and during the intraperitoneal glucose tolerance test. Glipizide (0.6 or 2 mg/kg) was not able to reduce the glucose level in wolframin-deficient animals. In contrast to other groups, wolframin-deficient mice had a lower insulin-to-glucose ratio during the intraperitoneal glucose tolerance test, indicating impaired insulin secretion. Exenatide increased the insulin-to-glucose ratio irrespective of genotype, demonstrating the ability to correct the impaired insulin secretion caused by wolframin deficiency. We conclude that GLP-1 agonists may have potential in the treatment of Wolfram syndrome-related diabetes.

Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1

Directory of Open Access Journals (Sweden)

Tuuli Sedman

2016-01-01

Full Text Available Wolfram syndrome 1 is a very rare monogenic disease resulting in a complex of disorders including diabetes mellitus. Up to now, insulin has been used to treat these patients. Some of the monogenic forms of diabetes respond preferentially to sulphonylurea preparations. The aim of the current study was to elucidate whether exenatide, a GLP-1 receptor agonist, and glipizide, a sulphonylurea, are effective in a mouse model of Wolfram syndrome 1. Wolframin-deficient mice were used to test the effect of insulin secretagogues. Wolframin-deficient mice had nearly normal fasting glucose levels but developed hyperglycaemia after glucose challenge. Exenatide in a dose of 10 μg/kg lowered the blood glucose level in both wild-type and wolframin-deficient mice when administered during a nonfasted state and during the intraperitoneal glucose tolerance test. Glipizide (0.6 or 2 mg/kg was not able to reduce the glucose level in wolframin-deficient animals. In contrast to other groups, wolframin-deficient mice had a lower insulin-to-glucose ratio during the intraperitoneal glucose tolerance test, indicating impaired insulin secretion. Exenatide increased the insulin-to-glucose ratio irrespective of genotype, demonstrating the ability to correct the impaired insulin secretion caused by wolframin deficiency. We conclude that GLP-1 agonists may have potential in the treatment of Wolfram syndrome-related diabetes.

Melt-Dilute Spent Nuclear Fuel Form Criticality Summary Report; FINAL

International Nuclear Information System (INIS)

Vinson, D.W.

2002-01-01

Criticality analysis of the proposed Melt-Dilute (MD) form of aluminum-based spent nuclear fuel (SNF), under geologic repository conditions, was performed following the methodology, documented in the Disposal Criticality Analysis Methodology Topical Report. This methodology evaluates the potential for nuclear criticality as determined by the composition of the waste and its geometry, namely waste form configuration, including presence of moderator, reflecting structural material, and neutron absorbers. The initial emplaced configuration of the SNF form is a dry package placed in a mined repository passageway. Criticality calculations show that even with waste package failure, followed by degradation of material within the waste package and potential loss of neutron absorber materials, sub-critical conditions can be maintained

A System of Test Methods for Sheet Metal Forming Tribology

DEFF Research Database (Denmark)

Bay, Niels; Olsson, David Dam; Andreasen, Jan Lasson

2007-01-01

Sheet metal forming of tribologically difficult materials such as stainless steel, Al-alloys and Ti-alloys or forming in tribologically difficult operations like ironing, punching or deep drawing of thick plate requires often use of environmentally hazardous lubricants such as chlorinated paraffin...... oils in order to avoid galling. The present paper describes a systematic research in the development of new, environmentally harmless lubricants focusing on the lubricant testing aspects. A system of laboratory tests has been developed to study the lubricant performance under the very varied conditions...... appearing in different sheet forming operations such as stamping, deep drawing, ironing and punching. The laboratory tests have been especially designed to model the conditions in industrial production....

Pressurization effects on the polymorphic forms of famotidine

International Nuclear Information System (INIS)

Nemet, Zoltan; Hegedues, Bela; Szantay, Csaba; Sztatisz, Janisz; Pokol, Gyoergy

2005-01-01

The effects of high static pressure on the polymorphic modifications A and B of famotidine were examined by differential scanning calorimetry, infrared and Raman spectroscopy, and X-ray powder diffractometry. The obtained effects appeared to differ significantly depending on whether they were monitored by DSC or any of the other above techniques. In particular, DSC measurements tend to deceptively amplify a tendency of the pure modification B to turn into the more stable form A under pressurization, while the spectroscopic methods and XRPD exhibit no essential change in the crystal structure of the metastable form B. The apparent morphological transformation in the pressed samples stems from the nature of the DSC method itself

Hydroxylated ceramic waste forms and the absurdity of leach tests

Energy Technology Data Exchange (ETDEWEB)

Roy, R; Odoj, R; Merz, E [eds.

1981-06-01

The repository pressure and temperature conditions during the thermal period projected in US repositories have been drastically lowered in the last year or two to new values of say 175 +- 50/sup 0/K. Using the argument that the evidence from natural models indicates the most stable mineral (= ceramic) hosts for radionuclides, one finds that under these new repository conditions such crystalline assemblages would be micas, clays, zeolites and other hydrated minerals, plus the tetravalent anhydrous oxide families. A waste form consisting of specific hydroxylated candidate phases can be made via a simple in-can technology (demonstrated by Oak Ridge) by reacting liquid wastes with precursor gels or phyllo or tektosilicates at <200/sup 0/C under modest pressure within the final disposal canister. The data on the rate of reaction of typical oxide materials to yield hydroxylated phases under these conditions show that the typical leach test (at 25 to 100/sup 0/C in deionized water) does not provide a simulation of the reactions which will occur. Hence such tests are not only totally meaningless with respect to qualifying a waste form for its role in a repository, they can be downright misleading.

Hydroxylated ceramic waste forms and the absurdity of 'leach tests'

Energy Technology Data Exchange (ETDEWEB)

Roy, R; Odoj, R; Merz, E [eds.

1981-06-01

The repository pressure and temperature conditions during the thermal period projected in U.S. repositories have been drastically lowered in the last year or two to new values of say 175 +- 50 K. Using the argument that the evidence from natural models indicates the most stable mineral (= ceramic) hosts for radionuclides, one finds that under these new repository conditions such crystalline assemblages would be micas, clays, zeolites, and other hydrated minerals, plus the tetravalent anhydrous oxide families. A waste form consisting of specific hydroxylated candidate phase can be made via a simple in-can technology (demonstrated by Oak Ridge) by reacting liquid wastes with precursor gels or phyllo or tektosilicates at <200/sup 0/C under modest pressure within the final disposal canister. The data on the rate of reaction of typical oxide materials to yield hydroxylated phases under these conditions show that the typical leach test (at 25-100/sup 0/C in deionized water) does not provide a simulation of the reactions which will occur. Hence such tests are not only totally meaningless with respect to qualifying a waste form for its role in a repository, they can be downright misleading.

The not-for-profit form and translational research: Kerr revisited?

Directory of Open Access Journals (Sweden)

Joiner Keith A

2005-04-01

Full Text Available Abstract Translational research conducted in academic health centers is confounded by the organizational structure in which the work is performed. Investigators must obtain research funding and appropriate recognition as a part of a research team in a not-for-profit environment which has more readily rewarded basic work, and individual accomplishments. What results is a unique form of conflict of interest, best understood by relating the basic principles underlying the not-for-profit form to the conduct of translational research in the AHC setting.

Advances in metal forming expert system for metal forming

CERN Document Server

Hingole, Rahulkumar Shivajirao

2015-01-01

This comprehensive book offers a clear account of the theory and applications of advanced metal forming. It provides a detailed discussion of specific forming processes, such as deep drawing, rolling, bending extrusion and stamping. The author highlights recent developments of metal forming technologies and explains sound, new and powerful expert system techniques for solving advanced engineering problems in metal forming. In addition, the basics of expert systems, their importance and applications to metal forming processes, computer-aided analysis of metalworking processes, formability analysis, mathematical modeling and case studies of individual processes are presented.

NNWSI waste form performance test development

International Nuclear Information System (INIS)

Bates, J.K.; Gerding, T.J.

1984-01-01

A test method has been developed to measure the release of radionuclides from the waste package under simulated NNWSI repository conditions, and to provide information concerning materials interactions that may occur in the repository. Data from 13 weeks of unsaturated testing are discussed and compared to that from a 13-week analog test. The data indicate that the waste form test is capable of producing consistent, reproducible results that will be useful in evaluating the role of the waste in the long-term performance of the repository. 6 references, 3 figures

Structural relaxation and thermal conductivity of high-pressure formed, high-density di-n-butyl phthalate glass and pressure induced departures from equilibrium state.

Science.gov (United States)

Johari, G P; Andersson, Ove

2017-06-21

We report a study of structural relaxation of high-density glasses of di-n-butyl phthalate (DBP) by measuring thermal conductivity, κ, under conditions of pressure and temperature (p,T) designed to modify both the vibrational and configurational states of a glass. Various high-density glassy states of DBP were formed by (i) cooling the liquid under a fixed high p and partially depressurizing the glass, (ii) isothermal annealing of the depressurized glass, and (iii) pressurizing the glass formed by cooling the liquid under low p. At a given low p, κ of the glass formed by cooling under high p is higher than that of the glass formed by cooling under low p, and the difference increases as glass formation p is increased. κ of the glass formed under 1 GPa is ∼20% higher at ambient p than κ of the glass formed at ambient p. On heating at low p, κ decreases until the glass to liquid transition range is reached. This is the opposite of the increase in κ observed when a glass formed under a certain p is heated under the same p. At a given high p, κ of the low-density glass formed by cooling at low p is lower than that of the high-density glass formed by cooling at that high p. On heating at high p, κ increases until the glass to liquid transition range is reached. The effects observed are due to a thermally assisted approach toward equilibrium at p different from the glass formation p. In all cases, the density, enthalpy, and entropy would change until the glasses become metastable liquids at a fixed p, thus qualitatively relating κ to variation in these properties.

Alguns trematódeos monogenéticos da família Capsalidae Baird, 1853, em peixes do Oceano Atlântico - Costa Continental Portuguesa e Costa do Norte da África Some monogenetic trematodes of Portuguese Continental Cost and North African Cost

Directory of Open Access Journals (Sweden)

Ursula Buhrnheim

1973-01-01

Full Text Available No presente trabalho é feito um estudo de cinco trematódeos monogenéticos pertencentes à família Capsalidae Baird, 1853. Para a subfamília Benedeniinae Johnston, 1931, foram criadas duas espécies pertencenteso ao gênero Benedenia Diesing, 1858: Benedenia pompatica sp. n., que muito se assemelha a Benedenia sciaenae (Beneden, 1852, diferindo desta principalmente pela estrutura do 2º e 3º pares de macroganchos e Benedenia innobilitata sp. n. que mais se aproxima de Benedenia jaliscana Bravo-Hollis, 1951, afastando-se desta espécie pela ausência do cirro armado e também pela estrutura e localização da vagina. Da subfamília Trochopodiane (Price, 1936 são apresentados novos hospedadores: Lepidotrigla cavillone para Trochopus pini (Beneden & Hesse, 1863 e Serranus cabrilla para Megalocotyle grandiloba Paperna e Kohn, 1964, sendo apresentadas com novas descrições e ilustrações. Ainda desta subfamília é criada uma nova espécie do gênero Allomegalocotyle (Robinson, 1961 Yamaguti, 1963. A. gabbari sp. n. diferencia-se de A. johnstoni (Robinson, 1961, única espécie do gênero, pela morfologia dos macroganchos, localização do poro vaginal e vesícula seminal bem desenvolvida e externa.In this paper we make a study of five monogenetic trematodes of the family Capsalidae Baird, 1853. We describe two new species of the genus Benedenia Diesing, 1858, Benedeniinae Johnston, 1931: Benedenia pompatica sp. n., which is very similar to Benedenia sciaenae (Beneden, 1852 abd differs from it mainly by the structure of the second and third pair of the haptoral hooks; and Benedenia innobilitata sp. n. near to Benedenia jaliscana Bravo-Hollis, 1951 does not have the armed cirrus, proper to the last and the structure and position of the vagina is also a considered characteristic. For the subfamily Trochopodinae (Price, 1936 we give new hosts: Lepidotrigla cavillone for Trochopus pini (Beneden & Hesse, 1863 and Serranus cabrilla for Megalocotyle

A Kaluza–Klein inspired action for chiral p-forms and their anomalies

International Nuclear Information System (INIS)

Bonetti, Federico; Grimm, Thomas W.; Hohenegger, Stefan

2013-01-01

The dynamics of chiral p-forms can be captured by a lower-dimensional parity-violating action motivated by a Kaluza–Klein reduction on a circle. The massless modes are (p−1)-forms with standard kinetic terms and Chern–Simons couplings to the Kaluza–Klein vector of the background metric. The massive modes are p-forms charged under the Kaluza–Klein vector and admit parity-odd first-order kinetic terms. Gauge invariance is implemented by a Stückelberg-like mechanism using (p−1)-forms. A Chern–Simons term for the Kaluza–Klein vector is generated at one loop by massive p-form modes. These findings are shown to be consistent with anomalies and supersymmetry for six-dimensional supergravity theories with chiral tensor multiplets

Comment on “Motion of a helical vortex filament in superfluid 4He under the extrinsic form of the local induction approximation” [Phys. Fluids 25, 085101 (2013)

International Nuclear Information System (INIS)

Hietala, Niklas; Hänninen, Risto

2014-01-01

We comment on the paper by Van Gorder [“Motion of a helical vortex filament in superfluid 4 He under the extrinsic form of the local induction approximation,” Phys. Fluids 25, 085101 (2013)]. We point out that the flow of the normal fluid component parallel to the vortex will often lead into the Donnelly–Glaberson instability, which will cause the amplification of the Kelvin wave. We explain why the comparison to local nonlinear equation is unreasonable, and remark that neglecting the motion in the x-direction is not reasonable for a Kelvin wave with an arbitrary wavelength and amplitude. The correct equations in the general case are also derived

Paradigm Change: Alternate Approaches to Constitutive and Necking Models for Sheet Metal Forming

International Nuclear Information System (INIS)

Stoughton, Thomas B.; Yoon, Jeong Whan

2011-01-01

This paper reviews recent work proposing paradigm changes for the currently popular approach to constitutive and failure modeling, focusing on the use of non-associated flow rules to enable greater flexibility to capture the anisotropic yield and flow behavior of metals using less complex functions than those needed under associated flow to achieve that same level of fidelity to experiment, and on the use of stress-based metrics to more reliably predict necking limits under complex conditions of non-linear forming. The paper discusses motivating factors and benefits in favor of both associated and non-associated flow models for metal forming, including experimental, theoretical, and practical aspects. This review is followed by a discussion of the topic of the forming limits, the limitations of strain analysis, the evidence in favor of stress analysis, the effects of curvature, bending/unbending cycles, triaxial stress conditions, and the motivation for the development of a new type of forming limit diagram based on the effective plastic strain or equivalent plastic work in combination with a directional parameter that accounts for the current stress condition.

Coated particle waste form development

International Nuclear Information System (INIS)

Oma, K.H.; Buckwalter, C.Q.; Chick, L.A.

1981-12-01

Coated particle waste forms have been developed as part of the multibarrier concept at Pacific Northwest Laboratory under the Alternative Waste Forms Program for the Department of Energy. Primary efforts were to coat simulated nuclear waste glass marbles and ceramic pellets with low-temperature pyrolytic carbon (LT-PyC) coatings via the process of chemical vapor deposition (CVD). Fluidized bed (FB) coaters, screw agitated coaters (SAC), and rotating tube coaters were used. Coating temperatures were reduced by using catalysts and plasma activation. In general, the LT-PyC coatings did not provide the expected high leach resistance as previously measured for carbon alone. The coatings were friable and often spalled off the substrate. A totally different concept, thermal spray coating, was investigated at PNL as an alternative to CVD coating. Flame spray, wire gun, and plasma gun systems were evaluated using glass, ceramic, and metallic coating materials. Metal plasma spray coatings (Al, Sn, Zn, Pb) provided a two to three orders-of-magnitude increase in chemical durability. Because the aluminum coatings were porous, the superior leach resistance must be due to either a chemical interaction or to a pH buffer effect. Because they are complex, coated waste form processes rank low in process feasibility. Of all the possible coated particle processes, plasma sprayed marbles have the best rating. Carbon coating of pellets by CVD ranked ninth when compared with ten other processes. The plasma-spray-coated marble process ranked sixth out of eleven processes

75 FR 65489 - Agency Forms Undergoing Paperwork Reduction Act Review

Science.gov (United States)

2010-10-25

... children. The three environmental chemicals, Bisphenol A (BPA), phthalates, and mercury have been selected...] Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office of Management and...

Tocopherols in Sunflower Seedlings under Light and Dark Conditions.

Science.gov (United States)

del Moral, Lidia; Pérez-Vich, Begoña; Velasco, Leonardo

2015-01-01

The objective of this study was to evaluate the dynamics of tocopherols in cotyledons and radicles from sunflower seeds with high and low total tocopherol content, mainly in the α-tocopherol form, and from seeds with increased proportions of β-, γ-, and δ-tocopherol, both under dark and light conditions. Tocopherol content was measured every 24 h from 1 to 12 days after sowing. In all cases, the content of individual tocopherol forms in the cotyledons and radicles was reduced along the sampling period, which was more pronounced under light conditions. The presence of light had a slightly greater effect on α- and γ-tocopherol than on β- and δ-tocopherol. A marked light effect was also observed on total tocopherol content, with light promoting the reduction of tocopherol content in cotyledons and radicles. The study revealed only slight differences in the patterns of tocopherol losses in lines with different tocopherol profiles, both under dark and light conditions, which suggested that the partial replacement of α-tocopherol by other tocopherol forms had no great impact on the protection against oxidative damage in seedlings.

Canonical form of three-fermion pure-states with six single particle states

International Nuclear Information System (INIS)

Chen, Lin; Ž Ðoković, Dragomir; Grassl, Markus; Zeng, Bei

2014-01-01

We construct a canonical form for pure states in ∧ 3 (C 6 ), the three-fermion system with six single particle states, under local unitary (LU) transformations, i.e., the unitary group U(6). We also construct a minimal set of generators of the algebra of polynomial U(6)-invariants on ∧ 3 (C 6 ). It turns out that this algebra is isomorphic to the algebra of polynomial LU-invariants of three-qubits which are additionally invariant under qubit permutations. As a consequence of this surprising fact, we deduce that there is a one-to-one correspondence between the U(6)-orbits of pure three-fermion states in ∧ 3 (C 6 ) and the LU orbits of pure three-qubit states when qubit permutations are allowed. As an important byproduct, we obtain a new canonical form for pure three-qubit states under LU transformations U(2) × U(2) × U(2) (no qubit permutations allowed)

Nonculturable forms of bacteria in lyophilized probiotic preparations

OpenAIRE

Larisa Blinkova; Danik Martirosyan; Yury Pakhomov; Olga Dmitrieva; Rachel Vaughan; Michael Altshuler

2014-01-01

Background: Nonculturable cells are formed under stress. These viable but nonculturable (VBNC) cells retain the ability to revert to active growth and division when conditions become favorable, or after treatment with resuscitating factors. Information about the possible presence of VBNC in bacterial lyophilized probiotic preparations, foodstuffs, live vaccines, etc., indicates that human as well as animal intestines are a significant area for research. Methods: Samples were...

Induction of chlorophyll chimeras and chlorophyll mutations in mungbean (Vigna radiata) cv. T44

International Nuclear Information System (INIS)

Singh, V.P.; Yadav, R.D.S.

1993-01-01

Uniform and healthy seeds of mungbean (Vigna radiata) cv. T44 were exposed to varying doses of gamma rays, ethyl methane sulphonate (EMS) and combination treatment of gamma rays with EMS. The data were recorded for seed germination, plant survival, frequency and spectrum of chlorophyll chimeras in M 1 and chlorophyll mutations in M 2 generation. Among all, the combination treatments were found most effective for inducing chlorophyll chimeras and chlorophyll mutations than the gamma rays or EMS alone. Of the mutants under reference, the albino, xantha and chlorina showed monogenic recessive while viridis exhibited digenic recessive inheritance. (author). 8 refs., 2 tabs

Gene therapy for inherited retinal degenerations: initial successes and future challenges

Science.gov (United States)

Gupta, Priya R.; Huckfeldt, Rachel M.

2017-10-01

Inherited retinal degenerations are a clinically and genetically heterogeneous group of conditions that have historically shared an untreatable course. In recent years, however, a wide range of therapeutic strategies have demonstrated efficacy in preclinical studies and entered clinical trials with a common goal of improving visual function for patients affected with these conditions. Gene therapy offers a particularly elegant and precise opportunity to target the causative genetic mutations underlying these monogenic diseases. The present review will provide an overview of gene therapy with particular emphasis on key clinical results to date and challenges for the future.

TSA waste stream and final waste form composition

International Nuclear Information System (INIS)

Grandy, J.D.; Eddy, T.L.; Anderson, G.L.

1993-01-01

A final vitrified waste form composition, based upon the chemical compositions of the input waste streams, is recommended for the transuranic-contaminated waste stored at the Transuranic Storage Area of the Radioactive Waste Management Complex at the Idaho National Engineering Laboratory. The quantities of waste are large with a considerable uncertainty in the distribution of various waste materials. It is therefore impractical to mix the input waste streams into an ''average'' transuranic-contaminated waste. As a result, waste stream input to a melter could vary widely in composition, with the potential of affecting the composition and properties of the final waste form. This work examines the extent of the variation in the input waste streams, as well as the final waste form under conditions of adding different amounts of soil. Five prominent Rocky Flats Plant 740 waste streams are considered, as well as nonspecial metals and the ''average'' transuranic-contaminated waste streams. The metals waste stream is the most extreme variation and results indicate that if an average of approximately 60 wt% of the mixture is soil, the final waste form will be predominantly silica, alumina, alkaline earth oxides, and iron oxide. This composition will have consistent properties in the final waste form, including high leach resistance, irrespective of the variation in waste stream. For other waste streams, much less or no soil could be required to yield a leach resistant waste form but with varying properties

Metal Compression Forming of aluminum alloys and metal matrix composites

Energy Technology Data Exchange (ETDEWEB)

Viswanathan, S.; Ren, W.; Porter, W.D.; Brinkman, C.R.; Sabau, A.S.; Purgert, R.M.

2000-02-01

Metal Compression Forming (MCF) is a variant of the squeeze casting process, in which molten metal is allowed to solidify under pressure in order to close porosity and form a sound part. However, the MCF process applies pressure on the entire mold face, thereby directing pressure on all regions of the casting and producing a uniformly sound part. The process is capable of producing parts with properties close to those of forgings, while retaining the near net shape, complexity in geometry, and relatively low cost of the casting process.

(EOI) Form

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

Dorine Odongo

COLLABORATING TECHNICAL AGENCIES: EXPRESSION OF INTEREST FORM. • Please read the information provided about the initiative and the eligibility requirements in the Prospectus before completing this application form. • Ensure all the sections of the form are accurately completed and saved in PDF format.

Chemical compatibility of DWPF canistered waste forms

International Nuclear Information System (INIS)

Harbour, J.R.

1993-01-01

The Waste Acceptance Preliminary Specifications (WAPS) require that the contents of the canistered waste form are compatible with one another and the stainless steel canister. The canistered waste form is a closed system comprised of a stainless steel vessel containing waste glass, air, and condensate. This system will experience a radiation field and an elevated temperature due to radionuclide decay. This report discusses possible chemical reactions, radiation interactions, and corrosive reactions within this system both under normal storage conditions and after exposure to temperatures up to the normal glass transition temperature, which for DWPF waste glass will be between 440 and 460 degrees C. Specific conclusions regarding reactions and corrosion are provided. This document is based on the assumption that the period of interim storage prior to packaging at the federal repository may be as long as 50 years

The behavior of various chemical forms of nickel in graphite furnace atomic absorption spectrometry under different chemical modification approaches

International Nuclear Information System (INIS)

Kowalewska, Zofia

2012-01-01

Various organic and inorganic Ni forms were investigated using graphite furnace atomic absorption spectrometry. Experiments without chemical modification showed a wide range of characteristic mass values for Ni (from 6.7 to 29 pg) and the importance of interaction with graphite. With the aim of achieving signal unification of organic Ni forms, different ways of chemical modification were tested. Some rules that govern the behavior of Ni were found and confirmed a significant role of the organic component of the analyte molecule in the analytical process. The application of air as an internal furnace gas in the pyrolysis phase and the Pd modifier injected with the sample solution improved the signal of porphyrins, while the application of iodine and methyltrioctylammonium chloride was required for organic compounds containing oxygen-bound Ni atoms. The Ni signal was strongly diminished when an aqueous solution containing hydrochloric acid was measured with the Pd modifier injected over the sample. Using the developed analytical methods, the range of characteristic mass values for various Ni forms totally dissolved in organic or aqueous solution was 6.5–7.9 pg. - Highlights: ► Some rules that govern behavior of organic Ni forms during GFAAS analysis were found. ► Interaction with graphite can significantly influence evaporation of porphyrins. ► Determination of Ni in form of porphyrins needs Pd organic modifier and air ashing. ► Determination of Ni in O-bound organic compounds needs pretreatment with I2+MTOACl. ► Chemical modification for GFAAS determination of Ni in HCl-containing solution.

Proposed research and development plan for mixed low-level waste forms

Energy Technology Data Exchange (ETDEWEB)

O`Holleran, T.O.; Feng, X.; Kalb, P. [and others

1996-12-01

The objective of this report is to recommend a waste form program plan that addresses waste form issues for mixed low-level waste (MLLW). The report compares the suitability of proposed waste forms for immobilizing MLLW in preparation for permanent near-surface disposal and relates them to their impact on the U.S. Department of Energy`s mixed waste mission. Waste forms are classified into four categories: high-temperature waste forms, hydraulic cements, encapsulants, and specialty waste forms. Waste forms are evaluated concerning their ability to immobilize MLLW under certain test conditions established by regulatory agencies and research institutions. The tests focused mainly on leach rate and compressive strength. Results indicate that all of the waste forms considered can be tailored to give satisfactory performance immobilizing large fractions of the Department`s MLLW inventory. Final waste form selection will ultimately be determined by the interaction of other, often nontechnical factors, such as economics and politics. As a result of this report, three top-level programmatic needs have been identified: (1) a basic set of requirements for waste package performance and disposal; (2) standardized tests for determining waste form performance and suitability for disposal; and (3) engineering experience operating production-scale treatment and disposal systems for MLLW.

Proposed research and development plan for mixed low-level waste forms

International Nuclear Information System (INIS)

O'Holleran, T.O.; Feng, X.; Kalb, P.

1996-12-01

The objective of this report is to recommend a waste form program plan that addresses waste form issues for mixed low-level waste (MLLW). The report compares the suitability of proposed waste forms for immobilizing MLLW in preparation for permanent near-surface disposal and relates them to their impact on the U.S. Department of Energy's mixed waste mission. Waste forms are classified into four categories: high-temperature waste forms, hydraulic cements, encapsulants, and specialty waste forms. Waste forms are evaluated concerning their ability to immobilize MLLW under certain test conditions established by regulatory agencies and research institutions. The tests focused mainly on leach rate and compressive strength. Results indicate that all of the waste forms considered can be tailored to give satisfactory performance immobilizing large fractions of the Department's MLLW inventory. Final waste form selection will ultimately be determined by the interaction of other, often nontechnical factors, such as economics and politics. As a result of this report, three top-level programmatic needs have been identified: (1) a basic set of requirements for waste package performance and disposal; (2) standardized tests for determining waste form performance and suitability for disposal; and (3) engineering experience operating production-scale treatment and disposal systems for MLLW

Modular forms

NARCIS (Netherlands)

Edixhoven, B.; van der Geer, G.; Moonen, B.; Edixhoven, B.; van der Geer, G.; Moonen, B.

2008-01-01

Modular forms are functions with an enormous amount of symmetry that play a central role in number theory, connecting it with analysis and geometry. They have played a prominent role in mathematics since the 19th century and their study continues to flourish today. Modular forms formed the

Point form relativistic quantum mechanics and relativistic SU(6)

Science.gov (United States)

Klink, W. H.

1993-01-01

The point form is used as a framework for formulating a relativistic quantum mechanics, with the mass operator carrying the interactions of underlying constituents. A symplectic Lie algebra of mass operators is introduced from which a relativistic harmonic oscillator mass operator is formed. Mass splittings within the degenerate harmonic oscillator levels arise from relativistically invariant spin-spin, spin-orbit, and tensor mass operators. Internal flavor (and color) symmetries are introduced which make it possible to formulate a relativistic SU(6) model of baryons (and mesons). Careful attention is paid to the permutation symmetry properties of the hadronic wave functions, which are written as polynomials in Bargmann spaces.

Moon (Form-Origin)

Science.gov (United States)

Tsiapas, Elias; Soumelidou, Despina; Tsiapas, Christos

2017-04-01

When the Earth was formed, it was in a state of burning heat. As time went by, temperature on the planet's surface was falling due to radiation and heat transfer, and various components (crusts) began taking solid form at the Earth's poles. The formation of crusts took place at the Earth's poles, because the stirring of burning and fluid masses on the surface of the Earth was significantly slighter there than it was on the equator. Due to centrifugal force and Coriolis Effect, these solid masses headed towards the equator; those originating from the North Pole followed a south-western course, while those originating from the South Pole followed a north-western course and there they rotated from west to east at a lower speed than the underlying burning and liquid earth, because of their lower initial linear velocity, their solid state and inertia. Because inertia is proportional to mass, the initially larger solid body swept all new solid ones, incorporating them to its western side. The density of the new solid masses was higher, because the components on the surface would freeze and solidify first, before the underlying thicker components. As a result, the western side of the initial islet of solid rocks submerged, while the east side elevated. . As a result of the above, this initial islet began to spin in reverse, and after taking on the shape of a sphere, it formed the "heart" of the Moon. The Moon-sphere, rolling on the equator, would sink the solid rocks that continued to descend from the Earth's poles. The sinking rocks partially melted because of higher temperatures in the greater depths that the Moon descended to, while part of the rocks' mass bonded with the Moon and also served as a heat-insulating material, preventing the descended side of the sphere from melting. Combined with the Earth's liquid mass that covered its emerging eastern surface, new sphere-shaped shells were created, with increased density and very powerful structural cohesion. During the

On the 3-form formulation of axion potentials from D-brane instantons

Energy Technology Data Exchange (ETDEWEB)

García-Valdecasas, Eduardo [Instituto de Física Teórica UAM-CSIC,C/Nicolás Cabrera 13-15, Campus de Cantoblanco, 28049 Madrid (Spain); Departamento de Física Teórica, Universidad Autónoma de Madrid,Campus de Cantoblanco, 28049 Madrid (Spain); Uranga, Angel [Instituto de Física Teórica UAM-CSIC,C/Nicolás Cabrera 13-15, Campus de Cantoblanco, 28049 Madrid (Spain)

2017-02-16

The study of axion models and quantum corrections to their potential has experienced great progress by phrasing the axion potential in terms of a 3-form field eating up the 2-form field dual to the axion. Such reformulation of the axion potential has been described for axion monodromy models and for axion potentials from non-perturbative gauge dynamics. In this paper we propose a 3-form description of the axion potentials from non-gauge D-brane instantons. Interestingly, the required 3-form field does not arise in the underlying geometry, but rather shows up in the KK compactification in the generalized geometry obtained when the backreaction of the D-brane instanton is taken into account.

NNWSI waste form testing at Argonne National Laboratory

International Nuclear Information System (INIS)

Bates, J.K.; Gerding, T.J.; Abrajano, T.A. Jr.; Ebert, W.L.; Mazer, J.J.

1988-11-01

The Nevada Nuclear Waste Storage Investigation (NNWSI) Project is investigating the tuff beds of Yucca Mountain, Nevada, as a potential location for a high-level radioactive waste repository. As part of the waste package development portion of this project, experiments are being performed by the Chemical Technology Division of Argonne National Laboratory to study the behavior of the waste form under anticipated repository conditions. These experiments include the development and performance of a test to measure waste form behavior in unsaturated conditions and the performance of experiments designed to study the behavior of waste package components in an irradiated environment. Previous reports document developments in these areas through 1986. This report summarizes progress during the period January--June 1987, 19 refs., 17 figs., 20 tabs

Method for forming microspheres for encapsulation of nuclear waste

Science.gov (United States)

Angelini, Peter; Caputo, Anthony J.; Hutchens, Richard E.; Lackey, Walter J.; Stinton, David P.

1984-01-01

Microspheres for nuclear waste storage are formed by gelling droplets containing the waste in a gelation fluid, transferring the gelled droplets to a furnace without the washing step previously used, and heating the unwashed gelled droplets in the furnace under temperature or humidity conditions that result in a substantially linear rate of removal of volatile components therefrom.

Preliminary Hanford Waste Vitrification Plan Waste Form Qualification Plan

International Nuclear Information System (INIS)

Nelson, J.L.

1987-09-01

This Waste Form Qualification Plan describes the waste form qualification activities that will be followed during the design and operation of the Hanford Waste Vitrification Plant to ensure that the vitrified Hanford defense high-level wastes will meet the acceptance requirements of the candidate geologic repositories for nuclear waste. This plan is based on the defense waste processing facility requirements. The content of this plan is based on the assumption that the Hanford Waste Vitrification Plant high-level waste form will be disposed of in one of the geologic repository projects. Proposed legislation currently under consideration by Congress may change or delay the repository site selection process. The impacts of this change will be assessed as details of the new legislation become available. The Plan describes activities, schedules, and programmatic interfaces. The Waste Form Qualification Plan is updated regularly to incorporate Hanford Waste Vitrification Plant-specific waste acceptance requirements and to serve as a controlled baseline plan from which changes in related programs can be incorporated. 10 refs., 5 figs., 5 tabs

Metal waste forms from the electrometallurgical treatment of spent nuclear fuel

International Nuclear Information System (INIS)

Abraham, D.P.; McDeavitt, S.M.; Park, J.

1996-01-01

Stainless steel-zirconium alloys are being developed for the disposal of radioactive metal isotopes isolated using an electrometallurgical treatment technique to treat spent nuclear fuel. The nominal waste forms are stainless steel-15 wt% zirconium alloy and zirconium-8 wt% stainless steel alloy. These alloys are generated in yttria crucibles by melting the starting materials at 1,600 C under an argon atmosphere. This paper discusses the microstructures, corrosion and mechanical test results, and thermophysical properties of the metal waste form alloys

Methods for detecting the environmental coccoid form of Helicobacter pylori

Directory of Open Access Journals (Sweden)

Mahnaz eMazaheri Assadi

2015-05-01

Full Text Available Helicobacter pylori is recognized as the most common pathogen to cause gastritis, peptic and duodenal ulcers, and gastric cancer. The organisms are found in two forms: 1 spiral-shaped bacillus and 2 coccoid. H. pylori coccoid form, generally found in the environment, is the transformed form of the normal spiral-shaped bacillus after exposed to water or adverse environmental conditions such as exposure to sub-inhibitory concentrations of antimicrobial agents. The putative infectious capability and the viability of H. pylori under environmental conditions are controversial. This disagreement is partially due to the fact of lack in detecting the coccoid form of H. pylori in the environment. Accurate and effective detection methods of H. pylori will lead to rapid treatment and disinfection, and less human health damages and reduction in health care costs. In this review, we provide a brief introduction to H. pylori environmental coccoid forms, their transmission and detection methods. We further discuss the use of these detection methods including their accuracy and efficiency.

Functional Forms, Exogenous Shifts, and Economic Surplus Changes

OpenAIRE

Xueyan Zhao; John D. Mullen; Gary R. Griffith

1997-01-01

Conditions for exact welfare measures in equilibrium displacement modeling are examined. These relate to the functional form of supply and demand, the nature of the exogenous shift, and the definition of percentage changes. Approximation errors when these conditions are not met in empirical applications are investigated and analytical expressions for the errors derived. Significant errors are possible when a proportional shift is assumed. The assumptions underlying Alston and Wohlgenant's emp...

Optimal portfolio choice under loss aversion

NARCIS (Netherlands)

A.B. Berkelaar (Arjan); R.R.P. Kouwenberg (Roy)

2000-01-01

textabstractProspect theory and loss aversion play a dominant role in behavioral finance. In this paper we derive closed-form solutions for optimal portfolio choice under loss aversion. When confronted with gains a loss averse investor behaves similar to a portfolio insurer. When confronted with

75 FR 51329 - Reports, Forms and Record Keeping Requirements; Agency Information Collection Activity Under OMB...

Science.gov (United States)

2010-08-19

... and comment. The ICR describes the nature of the information collection and its expected burden. The... CONTACT: John Piazza, National Highway Traffic Safety Administration, Office of the Chief Counsel (NCC-111.... 30170, given the lack of prosecutions under the statute to date. Accordingly, it is not likely to be a...

Finite element simulation of 3-D laser forming by discrete section ...

African Journals Online (AJOL)

ATHARVA

However, in order to take the process closer to real life applications, ... At the same time, the laser forming is being performed under the melting ..... is not attempted because the laser beam traversing requires some time along its travel to.

Genetics of type 2 diabetes mellitus

DEFF Research Database (Denmark)

Hansen, Lars; Pedersen, Oluf

2005-01-01

Throughout the last decade, molecular genetic studies of non-autoimmune diabetes mellitus have contributed significantly to our present understanding of this disease's complex aetiopathogenesis. Monogenic forms of diabetes (maturity-onset diabetes of the young, MODY) have been identified...... and classified into MODY1-6 according to the mutated genes that by being expressed in the pancreatic beta-cells confirm at the molecular level the clinical presentation of MODY as a predominantly insulin secretory deficient form of diabetes mellitus. Genomewide linkage studies of presumed polygenic type 2...... diabetic populations indicate that loci on chromosomes 1q, 5q, 8p, 10q, 12q and 20q contain susceptibility genes. Yet, so far, the only susceptibility gene, calpain-10 (CAPN10), which has been identified using genomewide linkage studies, is located on chromosome 2q37. Mutation analyses of selected...

Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?

Science.gov (United States)

2015-01-01

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset, autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function. MODY represents less than 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus. At least 13 MODY subtypes with distinct genetic etiologies have been identified to date. A correct genetic diagnosis is important as it often leads to personalized treatment for those with diabetes and enables predictive genetic testing for their asymptomatic relatives. Next-generation sequencing may provide an efficient method for screening mutations in this form of diabetes as well as identifying new MODY genes. In this review, I discuss a current update on MODY in the literatures and cover the studies that have been performed in Korea. PMID:26706916

[Adult form of Pompe disease].

Science.gov (United States)

Ziółkowska-Graca, Bozena; Kania, Aleksander; Zwolińska, Grazyna; Nizankowska-Mogilnicka, Ewa

2008-01-01

Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased. The infantile form is usually fatal. In the adult form of the disease the prognosis is relatively good. Muscle weakness may, however, interfere with normal daily activities, and respiratory insufficiency may be associated with obstructive sleep apnea. Death usually results from respiratory failure. Effective specific treatment is not available. Enzyme replacement therapy with recombinant human GAA (rh-GAA) still remains a research area. We report the case of a 24-year-old student admitted to the Department of Pulmonary Diseases because of severe respiratory insufficiency. Clinical symptoms such as dyspnea, muscular weakness and increased daytime sleepiness had been progressing for 2 years. Clinical examination and increased blood levels of CK suggested muscle pathology. Histopathological analysis of muscle biopsy, performed under electron microscope, confirmed the presence of vacuoles containing glycogen. Specific enzymatic activity of alpha-glucosidase was analyzed confirming Pompe disease. The only effective method to treat respiratory insufficiency was bi-level positive pressure ventilation. Respiratory rehabilitation was instituted and is still continued by the patient at home. A high-protein, low-sugar diet was proposed for the patient. Because of poliglobulia low molecular weight heparin was prescribed. The patient is eligible for experimental replacement therapy with rh-GAA.

The effects of atmospheric processes on tehran smog forming.

Science.gov (United States)

Mohammadi, H; Cohen, D; Babazadeh, M; Rokni, L

2012-01-01

Air pollution is one of the most important problems in urban areas that always threaten citizen's health. Photochemical smog is one of the main factors of air pollution in large cities like Tehran. Usually smog is not only a part of nature, but is being analyzed as an independent matter, which highly affects on the nature. It has been used as relationship between atmospheric elements such as temperature, pressure, relative humidity, wind speed with inversion in the time of smog forming and weather map in 500 Hpa level during 9 years descriptive static by using correlation coefficient in this analyze. Results show that there is a meaningful correlation between atmospheric elements and smog forming. This relation is seen between monthly average of these elements and monthly average of smog forming. However, when temperature decreases, corresponding pressure will increase and result of this will be smog forming. Usually smog increases in cold months of year due to enter cold high pressure air masses in Iran during December and January that is simultaneous with decreasing temperature and air pressure increases and inversion height distance decreases from the earth surface which cause to integrate air pollution under its surface, will cause to form smog in Tehran. It shows a meaningful and strong relation, based on resultant relations by correlation coefficient from inversion height and smog forming, so that obtained figure is more than 60% .

20 CFR 422.510 - Applications and related forms used in the health insurance for the aged program.

Science.gov (United States)

2010-04-01

... health insurance for the aged program. 422.510 Section 422.510 Employees' Benefits SOCIAL SECURITY... forms used in the health insurance for the aged program. (a) Application forms. The following forms are prescribed for use in applying for entitlement to benefits under the health insurance for the aged program...

Forming of High-strength Steels Using a Hot-melt Dry Lubricant

DEFF Research Database (Denmark)

Hörnström, Sven-Erik; Karlsson, Erik; Olsson, Mikael

2008-01-01

during forming resulting in seizure of the tool/steel sheet contact and extensive scratching of the steel sheet surface. As a result, a number of concepts have been developed in order to reduce the tendency to galling in metal forming, including the development of new dry lubricants, new forming tool...... steel grades and improved surface engineering treatments such as the deposition of low friction CVD and PVD coatings. In the present study the performance of a hot-melt dry lubricant in the forming of hot and cold rolled and hot-dip galvanized high strength steel has been evaluated and compared...... with a conventional rust protection oil using four different tests methods, i.e. a strip reduction test, a bending under tension test, a stretch-forming test and a pin-on disc test. In the tests, two different cold work tool steels, a conventional steel grade and a nitrogen alloyed PM steel grade were evaluated...

Characterization of lead nanoparticles formed by Shewanella sp. KR-12

Energy Technology Data Exchange (ETDEWEB)

Liu, Chien-Liang; Yen, Jui-Hung, E-mail: sonny@ntu.edu.tw [National Taiwan University, Department of Agricultural Chemistry (China)

2016-01-15

The bacterial strain KR-12 was isolated from river sediment in northeast Taiwan. 16S rRNA gene sequencing revealed that it belongs to the genus Shewanella. The strain can accumulate lead (Pb) and form Pb nanoparticles (PbNPs) on exposure to Pb(NO{sub 3}){sub 2} and sodium formate in HEPES buffer. On transmission electron microscopy (TEM), the KR-12-formed PbNPs were spherical in shape and ranged from 3 to 8 nm. The PbNPs formed a line or curved pattern on bacteria. In addition, one or more pilus-like structures elongated from the bacteria. In contrast, Shewanella oneidensis MR-1 and other bacteria could not form PbNPs pattern or pilus-like structure under the same conditions. High-resolution TEM combined with energy-dispersive X-ray spectroscopy demonstrated that these PbNPs primarily contained Pb and had an amorphous structure. This is the first report of the biosynthesis of PbNPs by a Shewanella species.

Evaluation and review of alternative waste forms for immobilization of high level radioactive wastes. Report number 3

International Nuclear Information System (INIS)

1981-01-01

A discussion of the relative strengths and weaknesses of the alternative forms and recommendations for future program directions are presented in the body of this report. In addition to the relative ranking, the Peer Review Panel makes the following observations and recommendations: (1) Differences in overall performance of most of the uncoated waste forms are relatively small when compared under approximately equivalent conditions. (2) The increased scientific basis for this class of waste forms has not yet been sufficient to achieve reliably large improvements in waste form performance over the best borosilicate glasses. (3) The increased leach rates at elevated temperatures and the uncertainty regarding mechanisms of leaching under repository conditions continue to indicate that surface temperatures of waste canisters and especially any waste form-water interfaces should be restricted to less than 100 0 C, until more data is available to indicate otherwise. (4) Improvements are noteworthy, but there is still a need for adopting additional standardized tests, standard reference materials, common units and standardized methods of data presentation in the nuclear waste program. (5) Comparative data on leach rates in waters equilibrated with candidate rocks and potential geologic environments are almost non-existent and are essential to establish relevant long term extrapolation of waste form performance.(6) Understanding radiation damage effects on the microstructure and leaching mechanisms of polycrystalline ceramics is still insufficient to judge long term reliability of this class of waste forms. (7) More extensive data on rates and mechanisms of leaching of all waste forms under radiation and repository conditions are needed. (8) Additional studies of fundamental mechanisms controlling long term reliability of glass and alternative waste forms are strongly encouraged

Waste form development/test

International Nuclear Information System (INIS)

Kalb, P.D.; Colombo, P.

1983-01-01

The main objective of this study is to investigate new solidification agents relative to their potential application to wastes generated by advanced high volume reduction technologies, e.g., incinerator ash, dry solids, and ion exchange resins. Candidate materials selected for the solidification of these wastes include a modified sulfur cement and low-density polyethylene, neither of which are currently employed commerically for the solidification of low-level waste (LLW). As both the modified sulfur cement and the polyethylene are thermoplastic materials, a heated screw type extruder is utilized in the production of waste form samples for testing and evaluation. In this regard, work is being conducted to determine the range of conditions under which these solidification agents can be satisfactorily applied to the specific LLW streams and to provide information relevant to operating parameters and process control

On Growth and Form in context - an interview with Matthew Jarron.

Science.gov (United States)

Maartens, Aidan

2017-12-01

D'Arcy Thompson was born in 1860, trained in Edinburgh and Cambridge, and held positions in Dundee and St Andrews, where he worked until his death in 1948. On Growth and Form , his classic work on the mathematical patterns and physical rules underlying biological forms, was first published in 1917. To learn more about the book's context, we met Matthew Jarron, Curator of Museum Services at the University of Dundee, in the University's D'Arcy Thompson Zoology Museum. Surrounded by specimens, many of which were collected by Thompson himself, we discussed the legacy of On Growth and Form and the life of the man behind it. © 2017. Published by The Company of Biologists Ltd.

Reconstruction of normal forms by learning informed observation geometries from data.

Science.gov (United States)

Yair, Or; Talmon, Ronen; Coifman, Ronald R; Kevrekidis, Ioannis G

2017-09-19

The discovery of physical laws consistent with empirical observations is at the heart of (applied) science and engineering. These laws typically take the form of nonlinear differential equations depending on parameters; dynamical systems theory provides, through the appropriate normal forms, an "intrinsic" prototypical characterization of the types of dynamical regimes accessible to a given model. Using an implementation of data-informed geometry learning, we directly reconstruct the relevant "normal forms": a quantitative mapping from empirical observations to prototypical realizations of the underlying dynamics. Interestingly, the state variables and the parameters of these realizations are inferred from the empirical observations; without prior knowledge or understanding, they parametrize the dynamics intrinsically without explicit reference to fundamental physical quantities.

UKAEA underlying research programme annual report

International Nuclear Information System (INIS)

Mason, J.P.

1988-11-01

Work from all technical areas of the Authority's underlying research programme is described. This is typically in the form of an interim progress report for the year April 1987 to March 1988. The seventeen chapters report research into radiation damage, fracture studies, chemical effects at surfaces, surface physics and corrosion, fluid mechanics and heat transfer, nuclear studies, neutron beam studies, theoretical sciences, instrumentation, reactor physics and control, fabrication processes, laser isotope separation, nuclear fuel cycle studies, quantum electronics, radiological protection, and miscellaneous underlying research. (author)

78 FR 4149 - Agency Forms Undergoing Paperwork Reduction Act Review

Science.gov (United States)

2013-01-18

... (CDC) publishes a list of information collection requests under review by the Office of Management and... forms based on the type of respondent: an ill traveler, or the master of a vessel or conveyance engaged... application of Federal regulations. The regulations in 42 Part 70 were developed to facilitate Federal action...

Artificial reproduction of two different spawn-forms of the chub.

Science.gov (United States)

Krejszeff, Sławomir; Targońska, Katarzyna; Zarski, Daniel; Kucharczyk, Dariusz

2010-03-01

The aim of this study was to compare, under controlled conditions, reproduction results of cultured and wild stock of the chub. Wild fish spawned only once a season whereas the cultured stock spawned at least two times. In the multiple-spawn stock, fewer fish spawned and the weight of produced oocytes was reduced compared to the single-spawn stock. Larvae obtained from the multi-spawn forms were smaller than those of the single-spawn stock. The occurrence of one species with two forms of spawning performance in the same area makes it difficult to develop an efficient method for controlling the reproduction.

Separating form factor and nuclear model effects in quasielastic neutrino-nucleus scattering

Science.gov (United States)

Wieske, Joseph

2017-09-01

When studying neutrino oscillations an understanding of charged current quasielastic (CCQE) neutrino-nucleus scattering is imperative. This interaction depends on a nuclear model as well as knowledge of form factors. In the past, CCQE data from the MiniBooNE experiment was analyzed assuming the Relativistic Fermi Gas (RFG) nuclear model, an axial dipole form factor in, and using the the z-expansion for the axial form factor in. We present the first analysis that combines a non-RFG nuclear model, in particular the Correlated Fermi Gas nuclear model (CFG) of, and the z expansion for the axial form factor. This will allow us to separate form factor and nuclear model effects in CCQE scattering. This project was supported through the Wayne State University REU program under NSF Grant PHY-1460853 and by the DOE Grant DE-SC0007983.

Melt-Dilute Form of AI-Based Spent Nuclear Fuel Disposal Criticality Summary Report

International Nuclear Information System (INIS)

D. Vinson; A. Serika

2002-01-01

Criticality analysis of the proposed melt-dilute (MD) form of aluminum-based spent nuclear fuel (SNF), under geologic repository conditions, was performed [1] following the methodology documented in the Disposal Criticality Analysis Methodology Topical Report [2]. This methodology evaluates the potential for nuclear criticality for a waste form in a waste package. Criticality calculations show that even with waste package failure, followed by degradation of material within the waste package and potential loss of neutron absorber materials, sub-critical conditions can be readily demonstrated for the MD form of aluminum-based SNF

Conformal Field Theory, Automorphic Forms and Related Topics

CERN Document Server

Weissauer, Rainer; CFT 2011

2014-01-01

This book, part of the series Contributions in Mathematical and Computational Sciences, reviews recent developments in the theory of vertex operator algebras (VOAs) and their applications to mathematics and physics.   The mathematical theory of VOAs originated from the famous monstrous moonshine conjectures of J.H. Conway and S.P. Norton, which predicted a deep relationship between the characters of the largest simple finite sporadic group, the Monster, and the theory of modular forms inspired by the observations of J. MacKay and J. Thompson.   The contributions are based on lectures delivered at the 2011 conference on Conformal Field Theory, Automorphic Forms and Related Topics, organized by the editors as part of a special program offered at Heidelberg University that summer under the sponsorship of the MAThematics Center Heidelberg (MATCH).

Degradation modeling of the ANL ceramic waste form

International Nuclear Information System (INIS)

Fanning, T. H.; Morss, L. R.

2000-01-01

A ceramic waste form composed of glass-bonded sodalite is being developed at Argonne National Laboratory (ANL) for immobilization and disposition of the molten salt waste stream from the electrometallurgical treatment process for metallic DOE spent nuclear fuel. As part of the spent fuel treatment program at ANL, a model is being developed to predict the long-term release of radionuclides under repository conditions. Dissolution tests using dilute, pH-buffered solutions have been conducted at 40, 70, and 90 C to determine the temperature and pH dependence of the dissolution rate. Parameter values measured in these tests have been incorporated into the model, and preliminary repository performance assessment modeling has been completed. Results indicate that the ceramic waste form should be acceptable in a repository environment

Identifying gene coexpression networks underlying the dynamic regulation of wood-forming tissues in Populus under diverse environmental conditions.

Science.gov (United States)

Zinkgraf, Matthew; Liu, Lijun; Groover, Andrew; Filkov, Vladimir

2017-06-01

Trees modify wood formation through integration of environmental and developmental signals in complex but poorly defined transcriptional networks, allowing trees to produce woody tissues appropriate to diverse environmental conditions. In order to identify relationships among genes expressed during wood formation, we integrated data from new and publically available datasets in Populus. These datasets were generated from woody tissue and include transcriptome profiling, transcription factor binding, DNA accessibility and genome-wide association mapping experiments. Coexpression modules were calculated, each of which contains genes showing similar expression patterns across experimental conditions, genotypes and treatments. Conserved gene coexpression modules (four modules totaling 8398 genes) were identified that were highly preserved across diverse environmental conditions and genetic backgrounds. Functional annotations as well as correlations with specific experimental treatments associated individual conserved modules with distinct biological processes underlying wood formation, such as cell-wall biosynthesis, meristem development and epigenetic pathways. Module genes were also enriched for DNase I hypersensitivity footprints and binding from four transcription factors associated with wood formation. The conserved modules are excellent candidates for modeling core developmental pathways common to wood formation in diverse environments and genotypes, and serve as testbeds for hypothesis generation and testing for future studies. No claim to original US government works. New Phytologist © 2017 New Phytologist Trust.

Section Preequating under the Equivalent Groups Design without IRT

Science.gov (United States)

Guo, Hongwen; Puhan, Gautam

2014-01-01

In this article, we introduce a section preequating (SPE) method (linear and nonlinear) under the randomly equivalent groups design. In this equating design, sections of Test X (a future new form) and another existing Test Y (an old form already on scale) are administered. The sections of Test X are equated to Test Y, after adjusting for the…

20 CFR 422.512 - Applications and related forms used in the black lung benefits program.

Science.gov (United States)

2010-04-01

... black lung benefits program. 422.512 Section 422.512 Employees' Benefits SOCIAL SECURITY ADMINISTRATION... black lung benefits program. (a) Application forms. The following forms are prescribed for use in... Act of 1969, as amended by the Black Lung Benefits Act of 1972: SSA-46—Application for Benefits Under...

Machining tools in AISI M2 high-speed steel obtained by spray forming process

International Nuclear Information System (INIS)

Jesus, Edilson Rosa Barbosa de.

2004-01-01

The aim of the present work was the obtention of AISI M2 high-speed steel by spray forming technique and the material evaluation when used as machining tool. The obtained material was hot rolled at 50% and 72% reduction ratios, and from which it was manufactured inserts for machining tests. The performance of inserts made of the spray formed material was compared to inserts obtained from conventional and powder metallurgy (MP) processed materials. The spray formed material was chemical, physical, mechanical and microstructural characterised. For further characterisation, the materials were submitted to machining tests for performance evaluation under real work condition. The results of material characterisation highlight the potential of the spray forming technique, in the obtention of materials with good characteristics and properties. Under the current processing, hot rolling and heat treatments condition, the analysis of the results of the machining tests revealed a very similar behaviour among the tested materials. Proceeding a criterious analysis of the machining results tests, it was verified that the performance presented by the powder metallurgy material (MP) was slight superior, followed by conventional obtained material (MConv), which presented a insignificant advantage over the spray formed and hot rolled (72% reduction ratio) material. The worst result was encountered for the spray forming and hot rolled (50% reduction ratio) material that presented the highest wear values. (author)

A Comparative Study Between Strain And Stress Based Forming Limit Analysis By Applying Several Phenomenological Yield Criteria

International Nuclear Information System (INIS)

Butuc, Marilena C.; Vincze, Gabriela T.; Gracio, Jose J.; Barata da Rocha, A.

2005-01-01

The present work aims at analyzing a comparative study between the strain-based forming limit criterion (FLD) and the stress-based forming limit criterion (FLSD), under linear and complex strain paths. The selected material is an AA5182-0 aluminium alloy. Some relevant remarks about stress-based forming limit criterion concept are presented

Against Logical Form

Directory of Open Access Journals (Sweden)

P N Johnson-Laird

2010-10-01

Full Text Available An old view in logic going back to Aristotle is that an inference is valid in virtue of its logical form. Many psychologists have adopted the same point of view about human reasoning: the first step is to recover the logical form of an inference, and the second step is to apply rules of inference that match these forms in order to prove that the conclusion follows from the premises. The present paper argues against this idea. The logical form of an inference transcends the grammatical forms of the sentences used to express it, because logical form also depends on context. Context is not readily expressed in additional premises. And the recovery of logical form leads ineluctably to the need for infinitely many axioms to capture the logical properties of relations. An alternative theory is that reasoning depends on mental models, and this theory obviates the need to recover logical form.

Exome sequencing identifies ZNF644 mutations in high myopia.

Directory of Open Access Journals (Sweden)

Yi Shi

2011-06-01

Full Text Available Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Genetic factors play a critical role in the development of myopia, especially high myopia. Recently, the exome sequencing approach has been successfully used for the disease gene identification of Mendelian disorders. Here we show a successful application of exome sequencing to identify a gene for an autosomal dominant disorder, and we have identified a gene potentially responsible for high myopia in a monogenic form. We captured exomes of two affected individuals from a Han Chinese family with high myopia and performed sequencing analysis by a second-generation sequencer with a mean coverage of 30× and sufficient depth to call variants at ∼97% of each targeted exome. The shared genetic variants of these two affected individuals in the family being studied were filtered against the 1000 Genomes Project and the dbSNP131 database. A mutation A672G in zinc finger protein 644 isoform 1 (ZNF644 was identified as being related to the phenotype of this family. After we performed sequencing analysis of the exons in the ZNF644 gene in 300 sporadic cases of high myopia, we identified an additional five mutations (I587V, R680G, C699Y, 3'UTR+12 C>G, and 3'UTR+592 G>A in 11 different patients. All these mutations were absent in 600 normal controls. The ZNF644 gene was expressed in human retinal and retinal pigment epithelium (RPE. Given that ZNF644 is predicted to be a transcription factor that may regulate genes involved in eye development, mutation may cause the axial elongation of eyeball found in high myopia patients. Our results suggest that ZNF644 might be a causal gene for high myopia in a monogenic form.

Mycobacterium fortuitum and Mycobacterium chelonae biofilm formation under high and low nutrient conditions.

Science.gov (United States)

Hall-Stoodley, L; Keevil, C W; Lappin-Scott, H M

1998-12-01

The rapidly growing mycobacteria (RGM) are broadly disbursed in the environment. They have been recovered from freshwater, seawater, wastewater and even potable water samples and are increasingly associated with non-tuberculous mycobacterial disease. There is scant evidence that non-tuberculous mycobacteria (NTM) and RGM form biofilms. Therefore, an experimental system was designed to assess the ability of RGM to form biofilms under controlled laboratory conditions. A flat plate reactor flow cell was attached to either a high or low nutrient reservoir and monitored by image analysis over time. Two surfaces were chosen for assessment of biofilm growth: silastic which is commonly used in medical settings and high density polyethylene (HDPE) which is prevalent in water distribution systems. The results show that Mycobacterium fortuitum and M. chelonae formed biofilms under both high and low nutrient conditions on both surfaces studied. These results suggest that RGM may form biofilms under a variety of conditions in industrial and medical environments. 1998 Society of Applied Microbiology.

Forming processes and mechanics of sheet metal forming

NARCIS (Netherlands)

Burchitz, I.A.

2004-01-01

The report is dealing with the numerical analysis of forming processes. Forming processes is the large group of manufacturing processes used to obtain various product shapes by means of plastic deformations. The report is organized as follows. An overview of the deformation processes and the

Production of sodalite waste forms by addition of glass

International Nuclear Information System (INIS)

Pereira, C.

1995-01-01

Spent nuclear fuel can be treated in a molten salt electrorefiner for conversion into metal and mineral waste forms for geologic disposal. Sodalite is one of the mineral waste forms under study. Fission products in the molten salt are ion-exchanged into zeolite A, which is converted to sodalite and consolidated. Sodalite can be formed directly from mixtures of salt and zeolite A at temperatures above 975 K; however, nepheline is usually produced as a secondary phase. Addition of small amounts of glass frit to the mixture reduced nepheline formation significantly. Loss of fission products was not observed for reaction below 1000 K. Hot-pressing of the sodalite powders yielded dense pellets (∼2.3 g/cm 3 ) without any loss of fission product species. Normalized release rates were below 1 g/m 2 ·day for pre-washed samples in 28-day leach tests based on standard MCC-1 tests but increased with the presence of free salt on the sodalite

The differentiated approach in forming swimming abilities and skills of students

Directory of Open Access Journals (Sweden)

Nikolskiy A.U.

2010-09-01

Full Text Available It is considered the directions of organization and methods of conducting of lessons with students. In experiment took part students of the 17-20 years old. The criteria of forming of typological educational groups are presented on the initial stage of teaching swimming of students. The degree of connection of the hereditarily conditioned swimming coordinating inclination is certain with the indexes of formed swimming abilities and skills of students. It is well-proven that a process of capture motive habits is under unreserved influence of conservative heredity of individual.

Pre-form ceramic matrix composite cavity and method of forming and method of forming a ceramic matrix composite component

Science.gov (United States)

Monaghan, Philip Harold; Delvaux, John McConnell; Taxacher, Glenn Curtis

2015-06-09

A pre-form CMC cavity and method of forming pre-form CMC cavity for a ceramic matrix component includes providing a mandrel, applying a base ply to the mandrel, laying-up at least one CMC ply on the base ply, removing the mandrel, and densifying the base ply and the at least one CMC ply. The remaining densified base ply and at least one CMC ply form a ceramic matrix component having a desired geometry and a cavity formed therein. Also provided is a method of forming a CMC component.

Standard forms of construction contracts in Romania

Directory of Open Access Journals (Sweden)

Cristian Bănică

2013-12-01

Full Text Available Construction industry in Romania is under pressure to modernize in order to cope with the new demands of development and convergence with EU. Contractual procedures in construction have to become an integral part in this process of modernization. The article makes an introduction to the advantages of standard forms of contract and professional contract administration in construction and presents the current state-of-the art in the use of standard construction contracts in Romania. Some practical conclusions and recommendations are presented considering the need for further contract studies.

Form-finding with polyhedral meshes made simple

KAUST Repository

Tang, Chengcheng

2014-07-27

We solve the form-finding problem for polyhedral meshes in a way which combines form, function and fabrication; taking care of user-specified constraints like boundary interpolation, planarity of faces, statics, panel size and shape, enclosed volume, and last, but not least, cost. Our main application is the interactive modeling of meshes for architectural and industrial design. Our approach can be described as guided exploration of the constraint space whose algebraic structure is simplified by introducing auxiliary variables and ensuring that constraints are at most quadratic. Computationally, we perform a projection onto the constraint space which is biased towards low values of an energy which expresses desirable "soft" properties like fairness. We have created a tool which elegantly handles difficult tasks, such as taking boundary-alignment of polyhedral meshes into account, planarization, fairing under planarity side conditions, handling hybrid meshes, and extending the treatment of static equilibrium to shapes which possess overhanging parts.

Form-finding with polyhedral meshes made simple

KAUST Repository

Tang, Chengcheng; Sun, Xiang; Gomes, Maria Alexandra; Wallner, Johannes; Pottmann, Helmut

2014-01-01

We solve the form-finding problem for polyhedral meshes in a way which combines form, function and fabrication; taking care of user-specified constraints like boundary interpolation, planarity of faces, statics, panel size and shape, enclosed volume, and last, but not least, cost. Our main application is the interactive modeling of meshes for architectural and industrial design. Our approach can be described as guided exploration of the constraint space whose algebraic structure is simplified by introducing auxiliary variables and ensuring that constraints are at most quadratic. Computationally, we perform a projection onto the constraint space which is biased towards low values of an energy which expresses desirable "soft" properties like fairness. We have created a tool which elegantly handles difficult tasks, such as taking boundary-alignment of polyhedral meshes into account, planarization, fairing under planarity side conditions, handling hybrid meshes, and extending the treatment of static equilibrium to shapes which possess overhanging parts.

Spatial configuration of a plasma bunch formed under gyromagnetic resonance in a magnetic mirror trap

Energy Technology Data Exchange (ETDEWEB)

Andreev, V. V.; Novitskii, A. A.; Umnov, A. M.; Chuprov, D. V., E-mail: chu-d@mail.ru [Peoples’ Friendship University of Russia (Russian Federation)

2016-06-15

The spatial configuration of a relativistic plasma bunch generated under the gyromagnetic autoresonance and confined in a magnetic mirror trap has been studied experimentally and numerically. The characteristics of bremsstrahlung generated by the plasma bunch from the gas and chamber walls were investigated using X-ray spectroscopy and radiometry, which made it possible to determine the localization of the bunch and analyze the dynamics of its confinement.

Pediatric scleroderma: systemic or localized forms.

Science.gov (United States)

Torok, Kathryn S

2012-04-01

Pediatric scleroderma includes 2 major groups of clinical entities, systemic sclerosis (SSc) and localized scleroderma (LS). Although both share a common pathophysiology, their clinical manifestations differ. LS is typically confined to the skin and underlying subcutis, with up to a quarter of patients showing extracutaneous disease manifestations such as arthritis and uveitis. Vascular, cutaneous, gastrointestinal, pulmonary, and musculoskeletal involvement are most commonly seen in children with SSc. Treatment of both forms targets the active inflammatory stage and halts disease progression; however, progress needs to be made toward the development of more effective antifibrotic therapy to help reverse disease damage. Copyright © 2012 Elsevier Inc. All rights reserved.

Innovative application of AC-voltammetry in the characterization of oxides nanolayers formed on metals, under the effect of AC-perturbations

Energy Technology Data Exchange (ETDEWEB)

Bueno, V.; Lazzari, L.; Ormellesse, M. [Politecnico di Milano, Milan (Italy). Dept. of Chemistry, Materials and Chemical Engineering; Spinelli, P. [Politecnico di Torino, Torino (Italy). Dept. of Materials Science and Chemical Engineering

2008-07-01

Stray AC-currents have been reported to cause many cases of unwanted corrosion on metallic structures. This study characterized the formation and stability of the surface oxide film formed on mild steel under the effect of AC voltage in a very basic environment. The response of the system to DC signals was examined, along with its reversibility to AC perturbations. SEM analysis was used to complement AC-Voltammetry. Reaction mechanisms responsible for the AC-corrosion were formulated. AC-Voltammetry involves the application of a controlled sinusoidal voltage onto a solid working electrode while it is being swept in a DC-voltage range, with the faradaic or capacitative components of the resulting AC-current being recorded. The innovative aspect is the application of AC-V to characterize its nano-surface while it is being affected by AC-signals. It was concluded that the AC-V can be useful for the study of redox processes occurring at the surface of a reactive electrode and for the application of a considerable AC perturbation to the electrode in a potentiostatically controlled way. According to the electrochemistry of the double layer, there are 3 main reactions in the NaOH 1M media that are not reversible to DC nor to AC perturbations in the range of cathodic protection of mild steel. When designing metallic systems susceptible to stray currents, the AC-V could quantify the final faradaic, resistive and capacitative responses. 6 refs., 1 fig.

Analysis of reactive aldehydes formed from the irradiated skin lipid, triolein

International Nuclear Information System (INIS)

Niyati-Shirkhodaee, F.; Shibamoto. Y.

1992-01-01

One of the major skin lipids, triolein, was irradiated by 300 nm uv light under conditions approximately those at the skin surface exposed to sunlight for different periods of time. Irradiated samples were analyzed for acrolein, formaldehyde, and acetaldehyde by gas chromatography. Acrolein formed was derivatized to more stable 1-methyl-2-pyrazoline with N-methylhydrazine and analyzed by a nitrogen-phosphorus specific detector. Formaldehyde and acetaldehyde formed were reacted with cysteamine to give thiazolidine and 2-methylthiazolidine, respectively and analyzed by a flame photometric sulfur specific detector. The maximum amount of acrolein (1.05 nmol/mg triolein) was formed after 6 hr irradiation. The maximum quantities of formaldehyde (6 nmol/mg triolein) and acetaldehyde (2.71 nmol/mg triolein) were formed after 12 hr irradiation. Both formaldehyde and acrolein have been known to cause skin irritation in the levels of 1 ppM

Method for fabricating five-level microelectromechanical structures and microelectromechanical transmission formed

Science.gov (United States)

Rodgers, M. Steven; Sniegowski, Jeffry J.; Miller, Samuel L.; McWhorter, Paul J.

2000-01-01

A process for forming complex microelectromechanical (MEM) devices having five layers or levels of polysilicon, including four structural polysilicon layers wherein mechanical elements can be formed, and an underlying polysilicon layer forming a voltage reference plane. A particular type of MEM device that can be formed with the five-level polysilicon process is a MEM transmission for controlling or interlocking mechanical power transfer between an electrostatic motor and a self-assembling structure (e.g. a hinged pop-up mirror for use with an incident laser beam). The MEM transmission is based on an incomplete gear train and a bridging set of gears that can be moved into place to complete the gear train to enable power transfer. The MEM transmission has particular applications as a safety component for surety, and for this purpose can incorporate a pin-in-maze discriminator responsive to a coded input signal.

Method for fabricating five-level microelectromechanical structures and microelectromechanical transmission formed

Energy Technology Data Exchange (ETDEWEB)

Rodgers, M.S.; Sniegowski, J.J.; Miller, S.L.; McWhorter, P.J.

2000-07-04

A process is disclosed for forming complex microelectromechanical (MEM) devices having five layers or levels of polysilicon, including four structural polysilicon layers wherein mechanical elements can be formed, and an underlying polysilicon layer forming a voltage reference plane. A particular type of MEM device that can be formed with the five-level polysilicon process is a MEM transmission for controlling or interlocking mechanical power transfer between an electrostatic motor and a self-assembling structure (e.g. a hinged pop-up mirror for use with an incident laser beam). The MEM transmission is based on an incomplete gear train and a bridging set of gears that can be moved into place to complete the gear train to enable power transfer. The MEM transmission has particular applications as a safety component for surety, and for this purpose can incorporate a pin-in-maze discriminator responsive to a coded input signal.

Development and characterization of cermet forms for radioactive waste

International Nuclear Information System (INIS)

Aaron, W.S.; Quinby, T.C.; Kobisk, E.H.

1979-01-01

Cermets designed to isolate high-level wastes in a solid form are a composite consisting of various ceramic phase particles uniformly dispersed in and microencapsulated by an iron-nickel base alloy matrix. The metal matrix provides this waste form with many advantageous features including excellent thermal conductivity and mechanical strength. These cermets are formed by first dissolving the waste in molten urea, precipitating and calcining all the constituents, compacting the calcine, and sintering and reduction to form the final product. The exact formulation of cermets through additions to the waste is designed to fix most of the fission products in stable, leach resistant ceramic phases which are subsequently microencapsulated by an alloy matrix. The alloy matrix, which is derived primarily from the waste itself and includes the reducible fission and activation products from the waste, can be compositionally adjusted through additions to optimize its corrosion resistance under conditions existing in various disposal environments. The processes by which cermets are formed include several new and unique materials preparation options that are being developed to permit engineering scale-up and to be compatible with remote operations. Cermets formed by alternate processing methods are being characterized. Initially, cermet samples were prepared using a laboratory scale, batch process developed for the preparation of special ceramics having high compositional uniformity and excellent sinterability. The modification of this batch process to one suitable for scale-up and remote operation is the subject of this paper. Cermet characterization is also discussed

On good ETOL forms

DEFF Research Database (Denmark)

Skyum, Sven

1978-01-01

This paper continues the study of ETOL forms and good EOL forms done by Maurer, Salomaa and Wood. It is proven that binary very complete ETOL forms exist, good synchronized ETOL forms exist and that no propagating or synchronized ETOL form can be very complete.......This paper continues the study of ETOL forms and good EOL forms done by Maurer, Salomaa and Wood. It is proven that binary very complete ETOL forms exist, good synchronized ETOL forms exist and that no propagating or synchronized ETOL form can be very complete....

Designing usable web forms- Empirical evaluation of web form improvement guidelines

DEFF Research Database (Denmark)

Seckler, Mirjam; Heinz, Silvia; Bargas-Avila, Javier A.

2014-01-01

This study reports a controlled eye tracking experiment (N = 65) that shows the combined effectiveness of 20 guidelines to improve interactive online forms when applied to forms found on real company websites. Results indicate that improved web forms lead to faster completion times, fewer form...... submission trials, and fewer eye movements. Data from subjective questionnaires and interviews further show increased user satisfaction. Overall, our findings highlight the importance for web designers to improve their web forms using UX guidelines....

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

Science.gov (United States)

Pedace, Lucia; Castori, Marco; Binni, Francesco; Pingi, Alberto; Grammatico, Barbara; Scommegna, Salvatore; Majore, Silvia; Grammatico, Paola

2009-01-01

Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions.

MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans

DEFF Research Database (Denmark)

Andersson, Ehm A; Holst, Birgitte; Sparsø, Thomas

2010-01-01

OBJECTIVE: Common variants in the melatonin receptor type 1B (MTNR1B) locus have been shown to increase fasting plasma glucose (FPG) and the risk of type 2 diabetes. The aims of this study were to evaluate whether nonsynonymous variants in MTNR1B associate with monogenic forms of hyperglycemia...... specific, and none of the investigated MTNR1B variants associated with type 2 diabetes. The common 24E variant associated with increased prevalence of obesity (odds ratio 1.20 [1.08-1.34]; P = 8.3 x 10(-4)) and increased BMI (beta = 0.5 kg/m(2); P = 1.2 x 10(-5)) and waist circumference (beta = 1.2 cm; P...

Methods of forming semiconductor devices and devices formed using such methods

Science.gov (United States)

Fox, Robert V; Rodriguez, Rene G; Pak, Joshua

2013-05-21

Single source precursors are subjected to carbon dioxide to form particles of material. The carbon dioxide may be in a supercritical state. Single source precursors also may be subjected to supercritical fluids other than supercritical carbon dioxide to form particles of material. The methods may be used to form nanoparticles. In some embodiments, the methods are used to form chalcopyrite materials. Devices such as, for example, semiconductor devices may be fabricated that include such particles. Methods of forming semiconductor devices include subjecting single source precursors to carbon dioxide to form particles of semiconductor material, and establishing electrical contact between the particles and an electrode.

Forms of War

Energy Technology Data Exchange (ETDEWEB)

Vogel, H. [Asklepios Klinik St. Georg, Roentgenabteilung, Lohmuehlenstrasse 5, 20099 Hamburg (Germany)], E-mail: Hermann.vogel@ak-stgeorg.lbk-hh.de; Bartelt, D. [Asklepios Klinik St. Georg, Roentgenabteilung, Lohmuehlenstrasse 5, 20099 Hamburg (Germany)

2007-08-15

Purpose: Under war conditions, employed weapons can be identified on radiographs obtained in X-ray diagnostic. The analysis of such X-ray films allows concluding that there are additional information about the conditions of transport and treatment; it shall be shown that there are X-ray findings which are typical and characteristic for certain forms of warfare. Material and method: The radiograms have been collected during thirty years; they come from hospitals, where war casualties had been treated, and personal collections. Results: The material is selected, because in war X-ray diagnostic will be limited and the interest of the opposing parties influence the access to the material; furthermore the possibilities to publish or to communicate facts and thoughts are different. Citizens of the USA, GB, France, or Israel will have easier access to journals than those of Vietnam, Chad, and Zimbabwe. Under war conditions, poor countries, like North Vietnam may develop own concepts of medical care. There are X-ray findings which are typical or even characteristic for air warfare, guerrilla warfare, gas war, desert warfare, conventional warfare, and annihilation warfare, and city guerrilla warfare/civil war. The examples demonstrate that weapons and the conditions of transport and treatment can be recognized by X-ray findings. The radiogram can be read like a document. Conclusion: In War, there are differences between a treatment and imaging diagnostic in countries, which control the air space and in those who do not. Medical care of the poor, i.e. in countries (in general those opposing the western nations) will hardly be published, and poverty has no advocate.

Forms of War

International Nuclear Information System (INIS)

Vogel, H.; Bartelt, D.

2007-01-01

Purpose: Under war conditions, employed weapons can be identified on radiographs obtained in X-ray diagnostic. The analysis of such X-ray films allows concluding that there are additional information about the conditions of transport and treatment; it shall be shown that there are X-ray findings which are typical and characteristic for certain forms of warfare. Material and method: The radiograms have been collected during thirty years; they come from hospitals, where war casualties had been treated, and personal collections. Results: The material is selected, because in war X-ray diagnostic will be limited and the interest of the opposing parties influence the access to the material; furthermore the possibilities to publish or to communicate facts and thoughts are different. Citizens of the USA, GB, France, or Israel will have easier access to journals than those of Vietnam, Chad, and Zimbabwe. Under war conditions, poor countries, like North Vietnam may develop own concepts of medical care. There are X-ray findings which are typical or even characteristic for air warfare, guerrilla warfare, gas war, desert warfare, conventional warfare, and annihilation warfare, and city guerrilla warfare/civil war. The examples demonstrate that weapons and the conditions of transport and treatment can be recognized by X-ray findings. The radiogram can be read like a document. Conclusion: In War, there are differences between a treatment and imaging diagnostic in countries, which control the air space and in those who do not. Medical care of the poor, i.e. in countries (in general those opposing the western nations) will hardly be published, and poverty has no advocate

Material Recover and Waste Form Development--2016 Accomplishments

Energy Technology Data Exchange (ETDEWEB)

Todd, Terry A. [Idaho National Lab. (INL), Idaho Falls, ID (United States); Vienna, John [Idaho National Lab. (INL), Idaho Falls, ID (United States); Paviet, Patricia [Idaho National Lab. (INL), Idaho Falls, ID (United States)

2016-12-01

The Material Recovery and Waste Form Development (MRWFD) Campaign under the U.S. Department of Energy (DOE) Fuel Cycle Technologies (FCT) Program is responsible for developing advanced separation and waste form technologies to support the various fuel cycle options defined in the DOE Nuclear Energy Research and Development Roadmap, Report to Congress (April 2010). This MRWFD accomplishments report summarizes the results of the research and development (R&D) efforts performed within MRWFD in Fiscal Year (FY) 2016. Each section of the report contains an overview of the activities, results, technical point of contact, applicable references, and documents produced during the FY. This report briefly outlines campaign management and integration activities but primarily focuses on the many technical accomplishments of FY 2016. The campaign continued to use an engineering-driven, science-based approach to maintain relevance and focus.

7 CFR 54.1018 - Form of official identification and approval for use.

Science.gov (United States)

2010-01-01

...) AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing Practices), DEPARTMENT OF AGRICULTURE (CONTINUED) REGULATIONS AND STANDARDS UNDER THE AGRICULTURAL MARKETING ACT OF 1946 AND THE EGG PRODUCTS..., Processing, and Packaging of Livestock and Poultry Products § 54.1018 Form of official identification and...

77 FR 6134 - Agency Information Collection Activities: Form I-290B, Extension of an Existing Information...

Science.gov (United States)

2012-02-07

...: 60-Day Notice of Information Collection Under Review: Form I- 290B, Notice of Appeal or Motion...., permitting electronic submission of responses. Overview of this information collection: (1) Type of...: Notice of Appeal or Motion. (3) Agency form number, if any, and the applicable component of the...

76 FR 58029 - Agency Information Collection Activities: Form N-600K, Extension of a Currently Approved...

Science.gov (United States)

2011-09-19

... DEPARTMENT OF HOMELAND SECURITY U.S. Citizenship and Immigration Services Agency Information... ACTION: 30-Day Notice of Information Collection Under Review: Form N- 600K; Application for Citizenship and Issuance of Certificate under Section 322. The Department of Homeland Security, U.S. Citizenship...