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Sample records for rare earthiii complexation

  1. Discovery of rare variants for complex phenotypes.

    PubMed

    Kosmicki, Jack A; Churchhouse, Claire L; Rivas, Manuel A; Neale, Benjamin M

    2016-06-01

    With the rise of sequencing technologies, it is now feasible to assess the role rare variants play in the genetic contribution to complex trait variation. While some of the earlier targeted sequencing studies successfully identified rare variants of large effect, unbiased gene discovery using exome sequencing has experienced limited success for complex traits. Nevertheless, rare variant association studies have demonstrated that rare variants do contribute to phenotypic variability, but sample sizes will likely have to be even larger than those of common variant association studies to be powered for the detection of genes and loci. Large-scale sequencing efforts of tens of thousands of individuals, such as the UK10K Project and aggregation efforts such as the Exome Aggregation Consortium, have made great strides in advancing our knowledge of the landscape of rare variation, but there remain many considerations when studying rare variation in the context of complex traits. We discuss these considerations in this review, presenting a broad range of topics at a high level as an introduction to rare variant analysis in complex traits including the issues of power, study design, sample ascertainment, de novo variation, and statistical testing approaches. Ultimately, as sequencing costs continue to decline, larger sequencing studies will yield clearer insights into the biological consequence of rare mutations and may reveal which genes play a role in the etiology of complex traits. PMID:27221085

  2. A Rare Terminal Dinitrogen Complex of Chromium

    SciTech Connect

    Mock, Michael T.; Chen, Shentan; Rousseau, Roger J.; O'Hagan, Molly J.; Dougherty, William G.; Kassel, W. S.; DuBois, Daniel L.; Bullock, R. Morris

    2011-10-12

    The reduction of dinitrogen to ammonia from N2 and H2 is currently carried out by the Haber-Bosch process, an energy intensive process that requires high pressures and high temperatures and accounts for the production of millions of tons of ammonia per year. The development of a catalytic, energy-efficient process for N2 reduction is of great interest and remains a formidable challenge. In this communication, we are reporting the preparation, characterization and computational electronic structure analysis of a rare 'Chatt-type' ((P-P)2M(N2)2, P-P = diphosphine ligand) complex of chromium, cis-[Cr(N2)2(PPh2NBn2)2] and its reactivity with CO. This complex is supported by the diphosphine ligand PPh2NBn2, containing non-coordinating pendant amine bases, to serve as proton relays. Future studies for this complex are aimed at answering fundamental questions regarding the role of proton relays in the second coordination sphere in their ability to facilitate proton movement from an external acid to metal-bound dinitrogen ligands in the challenging multi-proton/electron reduction of N2 to ammonia.

  3. Unusually large erupted complex odontoma: A rare case report.

    PubMed

    Bagewadi, Shivanand B; Kukreja, Rahul; Suma, Gundareddy N; Yadav, Bhawna; Sharma, Havi

    2015-03-01

    Odontomas are nonaggressive, hamartomatous developmental malformations composed of mature tooth substances and may be compound or complex depending on the extent of morphodifferentiation or on their resemblance to normal teeth. Among them, complex odontomas are relatively rare tumors. They are usually asymptomatic in nature. Occasionally, these tumors become large, causing bone expansion followed by facial asymmetry. Odontoma eruptions are uncommon, and thus far, very few cases of erupted complex odontomas have been reported in the literature. Here, we report the case of an unusually large, painless, complex odontoma located in the right posterior mandible.

  4. Unusually large erupted complex odontoma: A rare case report

    PubMed Central

    Kukreja, Rahul; Suma, Gundareddy N.; Yadav, Bhawna; Sharma, Havi

    2015-01-01

    Odontomas are nonaggressive, hamartomatous developmental malformations composed of mature tooth substances and may be compound or complex depending on the extent of morphodifferentiation or on their resemblance to normal teeth. Among them, complex odontomas are relatively rare tumors. They are usually asymptomatic in nature. Occasionally, these tumors become large, causing bone expansion followed by facial asymmetry. Odontoma eruptions are uncommon, and thus far, very few cases of erupted complex odontomas have been reported in the literature. Here, we report the case of an unusually large, painless, complex odontoma located in the right posterior mandible. PMID:25793183

  5. Rare earth element complexation by carbonate and oxalate ions

    NASA Astrophysics Data System (ADS)

    Cantrell, Kirk J.; Byrne, Robert H.

    1987-03-01

    Rare earth carbonate and oxalate complexation constants have been determined through ex-amination of distribution equilibria between tributyl phosphate and an aqueous perchlorate phase. Carbonate complexation constants appropriate to the REE in seawater (25°C, 35%., 1 atm) can be described in terms of atomic number, Z. nlog swβ1 = 4.853 + 0.1135( Z - 57) - 0.003643( Z - 57) 2log swβ2 = 80.197 + 0.1730( Z - 57) - 0.002714( Z -57) 2 where swβ 1 = [MCO +3] /[M 3+][CO 2-3] T, swβ 2 = [M(CO 3) -3] /[M 3+][CO 2-3] 2' T [ M3+] is an uncomplexed rare earth concentration in seawater, [ MCO+3] and [ M( CO-3) 2] are carbonate complex concentrations, and [CO 2-3] T is the total (free plus ion paired) carbonate ion concentration in seawater (molal scale). Our analyses indicate that in seawater with a total carbonate ion concentration of 1.39 × 10 -4 moles/Kg H 2O, carbonate complexes for the lightest rare earth, La, constitute 86% of the total metal, 7% is free La 3+ and the remaining 7% exists as hydroxide, sulfate, chloride and fluoride complexes. For Lu, the heaviest rare earth, carbonate complexes are 98% of the total metal, 0.3% is uncomplexed and 1.5% is complexed with hydroxide, sulfate, chloride and fluoride. Oxalate and carbonate constants are linearly correlated. This correlation appears to be quite useful for estimating trivalent metal-arbonate stability constants from their respective oxalate stability constants.

  6. A rare case of congenital complex pulmonary AV fistula

    PubMed Central

    Pradhan, Akshyaya; Khare, Rashi; Sethi, Rishi

    2014-01-01

    A 15-year-old boy presented with central cyanosis with clubbing and dyspnoea on exertion. Cardiovascular examination did not reveal any abnormality. ECG was normal. Chest X-ray showed a normal sized heart with rounded opacities of variable size in the left upper lung field. Two-dimensional echocardiographic examination was normal. CT angiography showed a large complex lesion composed of serpiginous tubular structures involving the left upper and lingular lobe, suggestive of racemose tangle of blood vessels. A diagnosis of large complex arteriovenous (AV) fistula involving the left upper and lingular lobe was performed. This case reports a rare case of complex pulmonary AV fistula. PMID:25326563

  7. The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

    PubMed Central

    Gourraud, Jean-Baptiste; Barc, Julien; Thollet, Aurélie; Le Scouarnec, Solena; Le Marec, Hervé; Schott, Jean-Jacques; Redon, Richard; Probst, Vincent

    2016-01-01

    For the last 10 years, applying new sequencing technologies to thousands of whole exomes has revealed the high variability of the human genome. Extreme caution should thus be taken to avoid misinterpretation when associating rare genetic variants to disease susceptibility. The Brugada syndrome (BrS) is a rare inherited arrhythmia disease associated with high risk of sudden cardiac death in the young adult. Familial inheritance has long been described as Mendelian, with autosomal dominant mode of transmission and incomplete penetrance. However, all except 1 of the 23 genes previously associated with the disease have been identified through a candidate gene approach. To date, only rare coding variants in the SCN5A gene have been significantly associated with the syndrome. However, the genotype/phenotype studies conducted in families with SCN5A mutations illustrate the complex mode of inheritance of BrS. This genetic complexity has recently been confirmed by the identification of common polymorphic alleles strongly associated with disease risk. The implication of both rare and common variants in BrS susceptibility implies that one should first define a proper genetic model for BrS predisposition prior to applying molecular diagnosis. Although long remains the way to personalized medicine against BrS, the high phenotype variability encountered in familial forms of the disease may partly find an explanation into this specific genetic architecture. PMID:27200363

  8. The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.

    PubMed

    Gourraud, Jean-Baptiste; Barc, Julien; Thollet, Aurélie; Le Scouarnec, Solena; Le Marec, Hervé; Schott, Jean-Jacques; Redon, Richard; Probst, Vincent

    2016-01-01

    For the last 10 years, applying new sequencing technologies to thousands of whole exomes has revealed the high variability of the human genome. Extreme caution should thus be taken to avoid misinterpretation when associating rare genetic variants to disease susceptibility. The Brugada syndrome (BrS) is a rare inherited arrhythmia disease associated with high risk of sudden cardiac death in the young adult. Familial inheritance has long been described as Mendelian, with autosomal dominant mode of transmission and incomplete penetrance. However, all except 1 of the 23 genes previously associated with the disease have been identified through a candidate gene approach. To date, only rare coding variants in the SCN5A gene have been significantly associated with the syndrome. However, the genotype/phenotype studies conducted in families with SCN5A mutations illustrate the complex mode of inheritance of BrS. This genetic complexity has recently been confirmed by the identification of common polymorphic alleles strongly associated with disease risk. The implication of both rare and common variants in BrS susceptibility implies that one should first define a proper genetic model for BrS predisposition prior to applying molecular diagnosis. Although long remains the way to personalized medicine against BrS, the high phenotype variability encountered in familial forms of the disease may partly find an explanation into this specific genetic architecture. PMID:27200363

  9. The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.

    PubMed

    Gourraud, Jean-Baptiste; Barc, Julien; Thollet, Aurélie; Le Scouarnec, Solena; Le Marec, Hervé; Schott, Jean-Jacques; Redon, Richard; Probst, Vincent

    2016-01-01

    For the last 10 years, applying new sequencing technologies to thousands of whole exomes has revealed the high variability of the human genome. Extreme caution should thus be taken to avoid misinterpretation when associating rare genetic variants to disease susceptibility. The Brugada syndrome (BrS) is a rare inherited arrhythmia disease associated with high risk of sudden cardiac death in the young adult. Familial inheritance has long been described as Mendelian, with autosomal dominant mode of transmission and incomplete penetrance. However, all except 1 of the 23 genes previously associated with the disease have been identified through a candidate gene approach. To date, only rare coding variants in the SCN5A gene have been significantly associated with the syndrome. However, the genotype/phenotype studies conducted in families with SCN5A mutations illustrate the complex mode of inheritance of BrS. This genetic complexity has recently been confirmed by the identification of common polymorphic alleles strongly associated with disease risk. The implication of both rare and common variants in BrS susceptibility implies that one should first define a proper genetic model for BrS predisposition prior to applying molecular diagnosis. Although long remains the way to personalized medicine against BrS, the high phenotype variability encountered in familial forms of the disease may partly find an explanation into this specific genetic architecture.

  10. The DNA-binding and bioactivity of rare earth metal complexes.

    PubMed

    Yang, Li; Wang, Bochu; Tan, Jun; Zhu, Liancai

    2013-08-01

    Recently more and more attention is paid to the rare earth metal complexes, because the properties of the rare earth metals are similar to those of the transition metals such as the similar atomic and the ionic radius. A large number of rare metal complexes were synthesized, and their bioactivities were also studied. This review highlights recent researches on the interaction of some rare earth metal complexes with DNA, analyzes how the configuration of the complexes influences the binding affinity, and focuses on the pharmacological activities of the complexes, such as anticancer, antibacterial, antioxidant, anti-inflammatory and anti-virus.

  11. 40 CFR 721.10423 - Complex strontium aluminate, rare earth doped (generic).

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... earth doped (generic). 721.10423 Section 721.10423 Protection of Environment ENVIRONMENTAL PROTECTION... New Uses for Specific Chemical Substances § 721.10423 Complex strontium aluminate, rare earth doped... substances identified generically as complex strontium aluminate, rare earth doped (PMNs P-12-22, P-12-23,...

  12. Enthalpies of formation of rare earths and actinide(III) hydroxides: Their acid-base relationships and estimation of their thermodynamic properties

    SciTech Connect

    Morss, L.R.; Williams, C.W.

    1991-12-31

    This paper reviews the literature on rare earth(III) and actinide(III) hydroxide thermodynamics, in particular the determination of their enthalpies of formation at 25{degree}C. The hydroxide unit-cell volumes, lanthanide/actinide ion sizes, and solid-solution stability trends have been correlated with a generalized acid-base strength model for oxides to estimate properties for heterogeneous equilibria that are relevant to nuclear waste modeling and to characterization of potential actinide environmental interactions. Enthalpies of formation and solubility-product constants of actinide(III) hydroxides are estimated.

  13. Enthalpies of formation of rare earths and actinide(III) hydroxides: Their acid-base relationships and estimation of their thermodynamic properties

    SciTech Connect

    Morss, L.R.; Williams, C.W.

    1991-01-01

    This paper reviews the literature on rare earth(III) and actinide(III) hydroxide thermodynamics, in particular the determination of their enthalpies of formation at 25{degree}C. The hydroxide unit-cell volumes, lanthanide/actinide ion sizes, and solid-solution stability trends have been correlated with a generalized acid-base strength model for oxides to estimate properties for heterogeneous equilibria that are relevant to nuclear waste modeling and to characterization of potential actinide environmental interactions. Enthalpies of formation and solubility-product constants of actinide(III) hydroxides are estimated.

  14. Complex Electronic Structure of Rare Earth Activators in Scintillators

    SciTech Connect

    Aberg, D.; Yu, S. W.; Zhou, F.

    2015-10-27

    To aid and further the understanding of the microscopic mechanisms behind the scintillator nonproportionality that leads to degradation of the attainable energy resolution, we have developed theoretical and experimental algorithms and procedures to determine the position of the 4f energy levels of rare earth dopants relative to the host band edge states.

  15. Large complex odontoma of mandible in a young boy: a rare and unusual case report.

    PubMed

    Reddy, G Siva Prasad; Reddy, G V; Sidhartha, B; Sriharsha, K; Koshy, John; Sultana, Rehana

    2014-01-01

    Odontomas are the most common odontogenic tumors. They are broadly classified in to Compound Odontoma and Complex Odontoma. Among them complex odontoma is a rare tumor. Occasionally this tumor becomes large, causing expansion of bone followed by facial asymmetry. Otherwise these tumors are asymptomatic and are generally diagnosed on radiographic examination. We report a rare case of complex odontoma of mandible in a young boy. The tumor was treated by surgical excision under general anesthesia.

  16. How rare is complex life in the Milky Way?

    PubMed

    Bounama, Christine; von Bloh, Werner; Franck, Siegfried

    2007-10-01

    An integrated Earth system model was applied to calculate the number of habitable Earth-analog planets that are likely to have developed primitive (unicellular) and complex (multicellular) life in extrasolar planetary systems. The model is based on the global carbon cycle mediated by life and driven by increasing stellar luminosity and plate tectonics. We assumed that the hypothetical primitive and complex life forms differed in their temperature limits and CO(2) tolerances. Though complex life would be more vulnerable to environmental stress, its presence would amplify weathering processes on a terrestrial planet. The model allowed us to calculate the average number of Earth-analog planets that may harbor such life by using the formation rate of Earth-like planets in the Milky Way as well as the size of a habitable zone that could support primitive and complex life forms. The number of planets predicted to bear complex life was found to be approximately 2 orders of magnitude lower than the number predicted for primitive life forms. Our model predicted a maximum abundance of such planets around 1.8 Ga ago and allowed us to calculate the average distance between potentially habitable planets in the Milky Way. If the model predictions are accurate, the future missions DARWIN (up to a probability of 65%) and TPF (up to 20%) are likely to detect at least one planet with a biosphere composed of complex life.

  17. How Rare Is Complex Life in the Milky Way?

    NASA Astrophysics Data System (ADS)

    Bounamam Christine; von Bloh, Werner; Franck, Siegfried

    2007-10-01

    An integrated Earth system model was applied to calculate the number of habitable Earth-analog planets that are likely to have developed primitive (unicellular) and complex (multicellular) life in extrasolar planetary systems. The model is based on the global carbon cycle mediated by life and driven by increasing stellar luminosity and plate tectonics. We assumed that the hypothetical primitive and complex life forms differed in their temperature limits and CO2 tolerances. Though complex life would be more vulnerable to environmental stress, its presence would amplify weathering processes on a terrestrial planet. The model allowed us to calculate the average number of Earth-analog planets that may harbor such life by using the formation rate of Earth-like planets in the Milky Way as well as the size of a habitable zone that could support primitive and complex life forms. The number of planets predicted to bear complex life was found to be approximately 2 orders of magnitude lower than the number predicted for primitive life forms. Our model predicted a maximum abundance of such planets around 1.8 Ga ago and allowed us to calculate the average distance between potentially habitable planets in the Milky Way. If the model predictions are accurate, the future missions DARWIN (up to a probability of 65%) and TPF (up to 20%) are likely to detect at least one planet with a biosphere composed of complex life.

  18. 78 FR 58316 - Complex Issues in Developing Medical Devices for Pediatric Patients Affected by Rare Diseases...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-09-23

    ... HUMAN SERVICES Food and Drug Administration Complex Issues in Developing Medical Devices for Pediatric... (FDA) is announcing the following public workshop entitled ``Complex Issues in Developing Medical... ``Complex Issues in Developing Drug and Biological Products for Rare Diseases.'' The purpose of the...

  19. 78 FR 58311 - Complex Issues in Developing Drug and Biological Products for Rare Diseases; Public Workshop...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-09-23

    ... HUMAN SERVICES Food and Drug Administration Complex Issues in Developing Drug and Biological Products... announcing the following public workshop entitled ``Complex Issues in Developing Drug and Biological Products for Rare Diseases.'' The purpose of the public workshop is twofold: To discuss complex issues...

  20. Charge-separated and molecular heterobimetallic rare earth-rare earth and alkaline earth-rare earth aryloxo complexes featuring intramolecular metal-pi-arene interactions.

    PubMed

    Deacon, Glen B; Junk, Peter C; Moxey, Graeme J; Ruhlandt-Senge, Karin; St Prix, Courtney; Zuniga, Maria F

    2009-01-01

    Treatment of a rare earth metal (Ln) and a potential divalent rare earth metal (Ln') or an alkaline earth metal (Ae) with 2,6-diphenylphenol (HOdpp) at elevated temperatures (200-250 degrees C) afforded heterobimetallic aryloxo complexes, which were structurally characterised. A charge-separated species [(Ln'/Ae)(2)(Odpp)(3)][Ln(Odpp)(4)] was obtained for a range of metals, demonstrating the similarities between the chemistry of the divalent rare earth metals and the alkaline earth metals. The [(Ln'/Ae)(2)(Odpp)(3)](+) cation in the heterobimetallic structures is unusual in that it consists solely of bridging aryloxide ligands. A molecular heterobimetallic species [AeEu(Odpp)(4)] (Ae = Ca, Sr, Ba) was obtained by treating an alkaline earth metal and Eu metal with HOdpp at elevated temperatures. Similarly, [BaSr(Odpp)(4)] was prepared by treating Ba metal and Sr metal with HOdpp. Treatment of [Ba(2)(Odpp)(4)] with [Mg(Odpp)(2)(thf)(2)] in toluene afforded [Ba(2)(Odpp)(3)][Mg(Odpp)(3)(thf)]. Analogous solution-based syntheses were not possible for [(Ln'/Ae)(2)(Odpp)(3)][Ln(Odpp)(4)] complexes, for which the free-metal route was essential. As a result of the absence of additional donor ligands, the crystal structures of the heterobimetallic complexes feature extensive pi-Ph-metal interactions involving the pendant phenyl groups of the Odpp ligands, thus enabling the large electropositive metal atoms to attain coordination saturation. The charge-separated heterobimetallic species were purified by extraction with toluene/thf mixtures at ambient temperature (Ba-containing compounds) or by extraction with toluene under pressure above the boiling point of the solvent (other products). In donor solvents, heterobimetallic complexes other than those containing barium were found to fragment into homometallic species.

  1. Genome-wide association analysis of imputed rare variants: application to seven common complex diseases.

    PubMed

    Mägi, Reedik; Asimit, Jennifer L; Day-Williams, Aaron G; Zeggini, Eleftheria; Morris, Andrew P

    2012-12-01

    Genome-wide association studies have been successful in identifying loci contributing effects to a range of complex human traits. The majority of reproducible associations within these loci are with common variants, each of modest effect, which together explain only a small proportion of heritability. It has been suggested that much of the unexplained genetic component of complex traits can thus be attributed to rare variation. However, genome-wide association study genotyping chips have been designed primarily to capture common variation, and thus are underpowered to detect the effects of rare variants. Nevertheless, we demonstrate here, by simulation, that imputation from an existing scaffold of genome-wide genotype data up to high-density reference panels has the potential to identify rare variant associations with complex traits, without the need for costly re-sequencing experiments. By application of this approach to genome-wide association studies of seven common complex diseases, imputed up to publicly available reference panels, we identify genome-wide significant evidence of rare variant association in PRDM10 with coronary artery disease and multiple genes in the major histocompatibility complex (MHC) with type 1 diabetes. The results of our analyses highlight that genome-wide association studies have the potential to offer an exciting opportunity for gene discovery through association with rare variants, conceivably leading to substantial advancements in our understanding of the genetic architecture underlying complex human traits.

  2. In search of low-frequency and rare variants affecting complex traits

    PubMed Central

    Panoutsopoulou, Kalliope; Tachmazidou, Ioanna; Zeggini, Eleftheria

    2013-01-01

    The allelic architecture of complex traits is likely to be underpinned by a combination of multiple common frequency and rare variants. Targeted genotyping arrays and next-generation sequencing technologies at the whole-genome sequencing (WGS) and whole-exome scales (WES) are increasingly employed to access sequence variation across the full minor allele frequency (MAF) spectrum. Different study design strategies that make use of diverse technologies, imputation and sample selection approaches are an active target of development and evaluation efforts. Initial insights into the contribution of rare variants in common diseases and medically relevant quantitative traits point to low-frequency and rare alleles acting either independently or in aggregate and in several cases alongside common variants. Studies conducted in population isolates have been successful in detecting rare variant associations with complex phenotypes. Statistical methodologies that enable the joint analysis of rare variants across regions of the genome continue to evolve with current efforts focusing on incorporating information such as functional annotation, and on the meta-analysis of these burden tests. In addition, population stratification, defining genome-wide statistical significance thresholds and the design of appropriate replication experiments constitute important considerations for the powerful analysis and interpretation of rare variant association studies. Progress in addressing these emerging challenges and the accrual of sufficiently large data sets are poised to help the field of complex trait genetics enter a promising era of discovery. PMID:23922232

  3. Rare variants in complex traits: novel identification strategies and the role of de novo mutations.

    PubMed

    Jouan, Loubna; Gauthier, Julie; Dion, Patrick A; Rouleau, Guy A

    2012-01-01

    Following the limited success of linkage and association studies aimed at identifying the genetic causes of common neurodevelopmental syndromes like autism and schizophrenia, complex traits such as these have recently been considered under the 'common disease-rare variant' hypothesis. Prior to this hypothesis, the study of candidate genes has enabled the discovery of rare variants in complex disorders, and in turn some of these variants have highlighted the genetic contribution of de novo variants. De novo variants belong to a subcategory of spontaneous rare variants that are largely associated with sporadic diseases, which include some complex psychiatric disorders where the affected individuals do not transmit the genetic defects they carry because of their reduced reproductive fitness. Interestingly, recent studies have demonstrated the rate of germline de novo mutations to be higher in individuals with complex psychiatric disorders by comparison to what is seen in unaffected control individuals; moreover, de novo mutations carried by affected individuals have generally been more deleterious than those observed in control individuals. Advanced sequencing technologies have recently enabled the undertaking of massive parallel sequencing projects that can cover the entire coding sequences (exome) or genome of several individuals at once. Such advances have thus fostered the emergence of novel genetic hypotheses and ideas to investigate disease-causative genetic variations. The genetic underpinnings of a number of sporadic complex diseases is now becoming partly explained and more major breakthroughs for complex traits genomics should be expected in the near future. PMID:23594499

  4. How rare bone diseases have informed our knowledge of complex diseases.

    PubMed

    Johnson, Mark L

    2016-01-01

    Rare bone diseases, generally defined as monogenic traits with either autosomal recessive or dominant patterns of inheritance, have provided a rich database of genes and associated pathways over the past 2-3 decades. The molecular genetic dissection of these bone diseases has yielded some major surprises in terms of the causal genes and/or involved pathways. The discovery of genes/pathways involved in diseases such as osteopetrosis, osteosclerosis, osteogenesis imperfecta and many other rare bone diseases have all accelerated our understanding of complex traits. Importantly these discoveries have provided either direct validation for a specific gene embedded in a group of genes within an interval identified through a complex trait genome-wide association study (GWAS) or based upon the pathway associated with a monogenic trait gene, provided a means to prioritize a large number of genes for functional validation studies. In some instances GWAS studies have yielded candidate genes that fall within linkage intervals associated with monogenic traits and resulted in the identification of causal mutations in those rare diseases. Driving all of this discovery is a complement of technologies such as genome sequencing, bioinformatics and advanced statistical analysis methods that have accelerated genetic dissection and greatly reduced the cost. Thus, rare bone disorders in partnership with GWAS have brought us to the brink of a new era of personalized genomic medicine in which the prevention and management of complex diseases will be driven by the molecular understanding of each individuals contributing genetic risks for disease. PMID:27688878

  5. How rare bone diseases have informed our knowledge of complex diseases.

    PubMed

    Johnson, Mark L

    2016-01-01

    Rare bone diseases, generally defined as monogenic traits with either autosomal recessive or dominant patterns of inheritance, have provided a rich database of genes and associated pathways over the past 2-3 decades. The molecular genetic dissection of these bone diseases has yielded some major surprises in terms of the causal genes and/or involved pathways. The discovery of genes/pathways involved in diseases such as osteopetrosis, osteosclerosis, osteogenesis imperfecta and many other rare bone diseases have all accelerated our understanding of complex traits. Importantly these discoveries have provided either direct validation for a specific gene embedded in a group of genes within an interval identified through a complex trait genome-wide association study (GWAS) or based upon the pathway associated with a monogenic trait gene, provided a means to prioritize a large number of genes for functional validation studies. In some instances GWAS studies have yielded candidate genes that fall within linkage intervals associated with monogenic traits and resulted in the identification of causal mutations in those rare diseases. Driving all of this discovery is a complement of technologies such as genome sequencing, bioinformatics and advanced statistical analysis methods that have accelerated genetic dissection and greatly reduced the cost. Thus, rare bone disorders in partnership with GWAS have brought us to the brink of a new era of personalized genomic medicine in which the prevention and management of complex diseases will be driven by the molecular understanding of each individuals contributing genetic risks for disease.

  6. Theoretical Investigation of the M+-RG2 (m = Alkaline Earth Metal; RG = Rare Gas) Complexes

    NASA Astrophysics Data System (ADS)

    Gardner, Adrian M.; Plowright, Richard J.; Graneek, Jack; Wright, Timothy G.; Breckenridge, W. H.

    2012-06-01

    Metal cation rare gas complexes provide an expectedly simple system with which to investigate intermolecular interactions. Despite this, we have previously found the M+-RG (M = alkaline earth metal) complexes to very complicated systems, with the complexes of the heavier rare gases displaying surprisingly large degrees of chemical character. Here we extend these studies by examining the nature of these interactions with increasing degrees of solvation through investigating the M+-RG_2 complexes using high level {ab initio} techniques. Intriguing trends in the geometries and dissociation energies of these complexes have been observed and are rationalized. A. M. Gardner, C. D. Withers, J. B. Graneek, T. G. Wright, L. A. Viehland and W. H. Breckenridge, J. Phys. Chem. A, 2000, 114, 7631. A. M. Gardner, C. D. Withers, T. G. Wright, K. I. Kaplan, C. Y. N. Chapman, L. A. Viehland, E. P. F. Lee and W. H. Breckenridge, J. Chem. Phys., 2010, 132, 054302. M. F. McGuirk, L. A. Viehland, E. P. F. Lee, W. H. Breckenridge, C. D. Withers, A. M. Gardner, R. J. Plowright and T. G. Wright, J. Chem. Phys., 2009, 130, 194305.

  7. HM+-RG complexes (M = group 2 metal; RG = rare gas): Physical vs. chemical interactions

    NASA Astrophysics Data System (ADS)

    Harris, Joe P.; Dodson, Hannah; Breckenridge, W. H.; Wright, Timothy G.

    2015-04-01

    Previous work on the HM+-He complexes (M = Be-Ra) has been extended to the cases of the heavier rare gas atoms, HM+-RG (RG = Ne-Rn). Optimized geometries and harmonic vibrational frequencies have been calculated using MP2 theory and quadruple-ζ quality basis sets. Dissociation energies for the loss of the rare gas atom have been calculated at these optimized geometries using coupled cluster with single and double excitations and perturbative triples, CCSD(T)theory, extrapolating interaction energies to the basis set limit. Comparisons are made between the present data and the previously obtained helium results, as well as to those of the bare HM+ molecules; furthermore, comparisons are made to the related M+-RG and M2+-RG complexes. Partial atomic charge analyses have also been undertaken, and these used to test a simple charge-induced dipole model. Molecular orbital diagrams are presented together with contour plots of the natural orbitals from the quadratic configuration with single and double excitations (QCISD) density. The conclusion is that the majority of these complexes are physically bound, with very little sharing of electron density; however, for M = Be, and to a lesser extent M = Mg, some evidence for chemical effects is seen in HM+-RG complexes involving RG atoms with the higher atomic numbers.

  8. Constructing bis(porphyrinato) rare earth double-decker complexes involving N-confused porphyrin.

    PubMed

    Zhang, Yuehong; Cao, Wei; Wang, Kang; Jiang, Jianzhuang

    2014-06-28

    Reaction of metal-free N-confused 5,10,15,20-tetrakis(4-chlorophenyl)porphyrin (H2NTClPP) with metal-free 5,10,15,20-tetrakis[(4-tert-butyl)phenyl]porphyrin (H2TBPP) in the presence of M(III)(acac)3·nH2O (acac = acetylacetonate) in refluxing 1,2,4-trichlorobenzene (TCB) led to the isolation of heteroleptic bis(porphyrinato) rare earth compounds M(III)(HNTClPP)(TBPP) (M = La, Pr) (1, 2) in 6.7-10% yield. These represent the first examples of sandwich-type porphyrin rare earth double-decker complexes that involve N-confused porphyrin ligand. Different from their homoleptic bis(porphyrinato) rare earth double-decker counterparts HM(III)(TBPP)2 (M = La, Pr) (3, 4), the acidic proton in the heteroleptic analogues was revealed to localize at the inverted pyrrole nitrogen atom of the N-confused porphyrin ligand on the basis of NMR spectroscopic studies. Nevertheless, their heteroleptic bis(porphyrinato) sandwich molecular nature was confirmed on the basis of single crystal X-ray diffraction analysis over the praseodymium double-decker complex. PMID:24809442

  9. Accurate, multi-kb reads resolve complex populations and detect rare microorganisms.

    PubMed

    Sharon, Itai; Kertesz, Michael; Hug, Laura A; Pushkarev, Dmitry; Blauwkamp, Timothy A; Castelle, Cindy J; Amirebrahimi, Mojgan; Thomas, Brian C; Burstein, David; Tringe, Susannah G; Williams, Kenneth H; Banfield, Jillian F

    2015-04-01

    Accurate evaluation of microbial communities is essential for understanding global biogeochemical processes and can guide bioremediation and medical treatments. Metagenomics is most commonly used to analyze microbial diversity and metabolic potential, but assemblies of the short reads generated by current sequencing platforms may fail to recover heterogeneous strain populations and rare organisms. Here we used short (150-bp) and long (multi-kb) synthetic reads to evaluate strain heterogeneity and study microorganisms at low abundance in complex microbial communities from terrestrial sediments. The long-read data revealed multiple (probably dozens of) closely related species and strains from previously undescribed Deltaproteobacteria and Aminicenantes (candidate phylum OP8). Notably, these are the most abundant organisms in the communities, yet short-read assemblies achieved only partial genome coverage, mostly in the form of short scaffolds (N50 = ∼ 2200 bp). Genome architecture and metabolic potential for these lineages were reconstructed using a new synteny-based method. Analysis of long-read data also revealed thousands of species whose abundances were <0.1% in all samples. Most of the organisms in this "long tail" of rare organisms belong to phyla that are also represented by abundant organisms. Genes encoding glycosyl hydrolases are significantly more abundant than expected in rare genomes, suggesting that rare species may augment the capability for carbon turnover and confer resilience to changing environmental conditions. Overall, the study showed that a diversity of closely related strains and rare organisms account for a major portion of the communities. These are probably common features of many microbial communities and can be effectively studied using a combination of long and short reads.

  10. Accurate, multi-kb reads resolve complex populations and detect rare microorganisms

    PubMed Central

    Sharon, Itai; Kertesz, Michael; Hug, Laura A.; Pushkarev, Dmitry; Blauwkamp, Timothy A.; Castelle, Cindy J.; Amirebrahimi, Mojgan; Thomas, Brian C.; Burstein, David; Tringe, Susannah G.; Williams, Kenneth H.

    2015-01-01

    Accurate evaluation of microbial communities is essential for understanding global biogeochemical processes and can guide bioremediation and medical treatments. Metagenomics is most commonly used to analyze microbial diversity and metabolic potential, but assemblies of the short reads generated by current sequencing platforms may fail to recover heterogeneous strain populations and rare organisms. Here we used short (150-bp) and long (multi-kb) synthetic reads to evaluate strain heterogeneity and study microorganisms at low abundance in complex microbial communities from terrestrial sediments. The long-read data revealed multiple (probably dozens of) closely related species and strains from previously undescribed Deltaproteobacteria and Aminicenantes (candidate phylum OP8). Notably, these are the most abundant organisms in the communities, yet short-read assemblies achieved only partial genome coverage, mostly in the form of short scaffolds (N50 = ∼2200 bp). Genome architecture and metabolic potential for these lineages were reconstructed using a new synteny-based method. Analysis of long-read data also revealed thousands of species whose abundances were <0.1% in all samples. Most of the organisms in this “long tail” of rare organisms belong to phyla that are also represented by abundant organisms. Genes encoding glycosyl hydrolases are significantly more abundant than expected in rare genomes, suggesting that rare species may augment the capability for carbon turnover and confer resilience to changing environmental conditions. Overall, the study showed that a diversity of closely related strains and rare organisms account for a major portion of the communities. These are probably common features of many microbial communities and can be effectively studied using a combination of long and short reads. PMID:25665577

  11. Syntheses of new rare earth complexes with carboxymethylated polysaccharides and evaluation of their in vitro antifungal activities.

    PubMed

    Sun, Xiaobo; Jin, Xiaozhe; Pan, Wei; Wang, Jinping

    2014-11-26

    In the present paper, La, Eu and Yb were selected to represent light, middle and heavy rare earths to form complexes with polysaccharides through chelating coordination of carboxyl groups, which were added into polysaccharide chains by means of carboxymethylation. Their antifungal activities against plant pathogenic fungi were evaluated using growth rate method. These rare earth complexes exhibited various antifungal activities against the tested fungi, depending on rare earth elements, polysaccharide types and fungal species. Among these three metal elements (i.e. La, Eu and Yb), Yb formed the complexes with the most effective antifungal properties. Furthermore, the results showed that ligands of carboxymethylated polysaccharides played a key role in promoting cytotoxicity of the rare earth complexes. Carboxymethylated Ganoderma applanatum polysaccharide (CGAP) was found to be the most effective ligand to form complexes with antifungal activities, followed by carboxymethylated lentinan (CLNT) and carboxymethylated Momordica charantia polysaccharide (CMCP).

  12. Re-Analysis of the Dispersed Fluorescence Spectra of the C_3-RARE Gas Atom Complexes

    NASA Astrophysics Data System (ADS)

    Wang, Yi-Jen; Merer, Anthony; Hsu, Yen-Chu

    2015-06-01

    The dispersed fluorescence (DF) spectra of the C_3Ne, C_3Ar, C_3Kr, and C_3Xe complexes near the 0 2^- 0- 000, 0 4^- 0- 000, 0 2^+ 0- 000 and 100-000 bands of the {A}- {X} system of C_3 have been revisited. Some of the DF spectra of the Ne and Ar complexes have been recently obtained with a slightly improved resolution of 6-10 wn. All the DF spectra have been reassigned as emission from van der Waals (vdW) complexes and C_3 fragments. The optically excited C_3-Rg (Rg = rare-gas atom) complexes fluorescence and/or decay down to slightly lower (about 2-30 wn) vibrational levels without changing the internal energy of C_3 and then predissociate via the continua of the nearby vibronic states of C_3. The available dissociation channels depend on the binding energy of the ground electronic state complex. Exceptions have been found at the vdW bands near the 0 4^- 0- 000 band of C_3. The binding energies of the ground electronic states of these four complexes will be discussed. G. Zhang, B.-G. Lin, S.-M. Wen, and Y.-C. Hsu, J. Chem. Phys. 20, 3189(2004) J.-M. Chao, K. S. Tham, G. Zhang, A. J. Merer, Y.-C. Hsu, and W.-P. Hu, J. Chem. Phys. 34, 074313(2011)

  13. Medial subclavicular musculotendinous complex and insulation break: Rare cause of late pacemaker lead malfunction.

    PubMed

    Bhattacharyya, Pranab Jyoti; Agrawal, Shweta; Barkataky, Jogesh Chandra; Bhattacharyya, Anjan Kumar

    2015-12-01

    Insulation break in a permanent pacemaker lead is a rare long-term complication. We describe an elderly male with a VVIR pacemaker, who presented with an episode of presyncope more than 3 years after the initial implantation procedure, attributed to insulation break possibly caused by lead entrapment in components of the medial subclavicular musculotendinous complex (MSMC) and repeated compressive damage over time during ipsilateral arm movement requiring lead replacement. The differential diagnosis of a clinical presentation when pacing stimuli are present with failure to capture and the role of the MSMC in causing lead damage late after implantation are discussed.

  14. Rare Earth Metal Complexes of Bidentate Nitroxide Ligands: Synthesis and Electrochemistry.

    PubMed

    Kim, Jee Eon; Bogart, Justin A; Carroll, Patrick J; Schelter, Eric J

    2016-01-19

    We report rare earth metal complexes with tri- and bidentate ligands including strongly electron-donating nitroxide groups. The tridentate ligand 1,3,5-tris(2'-tert-butylhydroxylaminoaryl)benzene (H3arene-triNOx) was complexed to cerium(IV) in a 2:1 ligand-to-metal stoichiometry as Ce(Harene-triNOx)2 (1). Cyclic voltammetry of this compound showed stabilization of the tetravalent cerium cation with a Ce(IV/III) couple at E1/2 = -1.82 V versus Fc/Fc(+). On the basis of the uninvolvement of the third nitroxide group in the coordination chemistry with the cerium(IV) cation, the ligand system was redesigned toward a simpler bidentate mode, and a series of rare earth metal-arene-diNOx complexes were prepared with La(III), Ce(IV), Pr(III), Tb(III), and Y(III), [RE(arene-diNOx)2](-) ([2-RE](-), RE = La, Pr, Y, Tb) and Ce(IV)(arene-diNOx)2, where H2arene-diNOx = 1,3-bis(2'-tert-butylhydroxylaminoaryl)benzene. The core structures were isostructural throughout the series, with three nitroxide groups in η(2) binding modes and one κ(1) nitroxide group coordinated to the metal center in the solid state. In all cases except Ce(IV)(arene-diNOx)2, electrochemical analysis described two subsequent, ligand-based, quasi-reversible redox waves, indicating that a stable [N-O•] group was generated on the electrochemical time scale. Chemical oxidation of the terbium complex was performed, and isolation of the resulting complex, Tb(arene-diNOx)2·CH2Cl2 (3·CH2Cl2), confirmed the assignment of the cyclic voltammograms. Magnetic data showed no evidence of mixing between the Tb(III) states and the states of the open-shell ligand.

  15. Population genetic simulations of complex phenotypes with implications for rare variant association tests

    PubMed Central

    Uricchio, Lawrence H.; Torres, Raul; Witte, John S.; Hernandez, Ryan D.

    2014-01-01

    Demographic events and natural selection alter patterns of genetic variation within populations, and may play a substantial role in shaping the genetic architecture of complex phenotypes and disease. However, the joint impact of these basic evolutionary forces is often ignored in the assessment of statistical tests of association. Here, we provide a simulation-based framework for generating DNA sequences that incorporates selection and demography with flexible models for simulating phenotypic variation (sfs_coder). This tool also allows the user to perform locus-specific simulations by automatically querying annotated genomic functional elements and genetic maps. We demonstrate the effects of evolutionary forces on patterns of genetic variation by simulating recently inferred models of human selection and demography. We use these simulations to show that the demographic model and locus-specific features, such as the proportion of sites under selection, may have practical implications for estimating the statistical power of sequencing-based rare variant association tests. In particular, for some phenotype models, there may be higher power to detect rare variant associations in African populations compared to non-Africans, but power is considerably reduced in regions of the genome with rampant negative selection. Furthermore, we show that existing methods for simulating large samples based on resampling from a small set of observed haplotypes fail to recapitulate the distribution of rare variants in the presence of rapid population growth (as has been observed in several human populations). PMID:25417809

  16. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

    PubMed

    Leppa, Virpi M; Kravitz, Stephanie N; Martin, Christa Lese; Andrieux, Joris; Le Caignec, Cedric; Martin-Coignard, Dominique; DyBuncio, Christina; Sanders, Stephan J; Lowe, Jennifer K; Cantor, Rita M; Geschwind, Daniel H

    2016-09-01

    Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts. PMID:27569545

  17. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

    PubMed

    Leppa, Virpi M; Kravitz, Stephanie N; Martin, Christa Lese; Andrieux, Joris; Le Caignec, Cedric; Martin-Coignard, Dominique; DyBuncio, Christina; Sanders, Stephan J; Lowe, Jennifer K; Cantor, Rita M; Geschwind, Daniel H

    2016-09-01

    Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts.

  18. Formation and dynamics of "waterproof" photoluminescent complexes of rare earth ions in crowded environment.

    PubMed

    Ignatova, Tetyana; Blades, Michael; Duque, Juan G; Doorn, Stephen K; Biaggio, Ivan; Rotkin, Slava V

    2014-12-28

    Understanding behavior of rare-earth ions (REI) in crowded environments is crucial for several nano- and bio-technological applications. Evolution of REI photoluminescence (PL) in small compartments inside a silica hydrogel, mimic to a soft matter bio-environment, has been studied and explained within a solvation model. The model uncovered the origin of high PL efficiency to be the formation of REI complexes, surrounded by bile salt (DOC) molecules. Comparative study of these REI-DOC complexes in bulk water solution and those enclosed inside the hydrogel revealed a strong correlation between an up to 5×-longer lifetime of REIs and appearance of the DOC ordered phase, further confirmed by dynamics of REI solvation shells, REI diffusion experiments and morphological characterization of microstructure of the hydrogel. PMID:25379879

  19. Preparation and luminescence properties of phosphors of rare earth complexes based on polyoxotungstates

    SciTech Connect

    Wen, He-Rui; Lu, Xiao-Neng; Liao, Jin-Sheng; Zhang, Cai-Wei; You, Hang-Ying; Liu, Cai-Ming

    2015-08-15

    Highlights: • Three new phosphors of rare earth complexes based on polyoxotungstates were synthesized. • [Eu(PW{sub 11}O{sub 39}){sub 2}]{sup 11−} (1) emits red light which used as potential red light materials. • [Sm(PW{sub 11}O{sub 39}){sub 2}] {sup 11−} (2) emits strong orange-red light at 598.7 nm. • [Dy(PW{sub 11}O{sub 39}){sub 2}] {sup 11−} (3) emits white light which used as potential white light materials. - Abstract: Three new phosphors of rare earth complexes based on polyoxotungstates, K{sub 3}Cs{sub 8}[Eu(PW{sub 11}O{sub 39}){sub 2}]·11H{sub 2}O (1), K{sub 3}Cs{sub 8}[Sm(PW{sub 11}O{sub 39}){sub 2}]·10H{sub 2}O (2), and K{sub 5}Cs{sub 6}[Dy(PW{sub 11}O{sub 39}){sub 2}]·15H{sub 2}O (3) have been prepared and characterized. The crystallographic analyses reveal that these compounds consist of two monovacant keggin anions [PW{sub 11}O{sub 39}]{sup 7−} connected by a rare earth ion in a sandwich structure. The investigations of photoluminescence properties show that phosphor 1 emits strong red light at 614 and 702 nm, 2 emits strong orange-red light at 598.7 nm, and 3 exists two strong emissions at 479 nm (blue) and 574 nm (orange). The luminescence properties suggest that the 1 can be applied as the potential red-emitting crystal phosphor, and the 3 may be regarded as a potential white light material for LEDs.

  20. A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly.

    PubMed

    Porcelli, Anna Maria; Calvaruso, Maria Antonietta; Iommarini, Luisa; Kurelac, Ivana; Zuntini, Roberta; Ferrari, Simona; Gasparre, Giuseppe

    2016-06-01

    Mitochondrial DNA (mtDNA) mutations in respiratory complexes subunits contribute to a large spectrum of human diseases. Nonetheless, ribosomal RNA variants remain largely under-investigated from a functional point of view. We here report a unique combination of two rare mitochondrial rRNA variants detected by serendipity in a subject with chronic granulomatous disease and never reported to co-occur within the same mitochondrial haplotype. In silico prediction of the mitochondrial ribosomal structure showed a dramatic rearrangement of the rRNA secondary structure. Functional investigation of cybrids carrying this unique haplotype demonstrated that the co-occurrence of the two rRNA variants determines a slow-down of the mitochondrial protein synthesis, especially in cells with an elevated metabolic rate, which impairs the assembly kinetics of Complex I, induces a bioenergetic defect and stimulates reactive oxygen species production. In conclusion, our results point to a sub-pathogenic role for these two rare mitochondrial rRNA variants, when found in the unique combination here reported in a single individual. PMID:27102412

  1. Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity

    PubMed Central

    Walters, Robin G.; Coin, Lachlan J. M.; Ruokonen, Aimo; de Smith, Adam J.; El-Sayed Moustafa, Julia S.; Jacquemont, Sebastien; Elliott, Paul; Esko, Tõnu; Hartikainen, Anna-Liisa; Laitinen, Jaana; Männik, Katrin; Martinet, Danielle; Meyre, David; Nauck, Matthias; Schurmann, Claudia; Sladek, Rob; Thorleifsson, Gudmar; Thorsteinsdóttir, Unnur; Valsesia, Armand; Waeber, Gerard; Zufferey, Flore; Balkau, Beverley; Pattou, François; Metspalu, Andres; Völzke, Henry; Vollenweider, Peter; Stefansson, Kári; Järvelin, Marjo-Riitta; Beckmann, Jacques S.; Froguel, Philippe; Blakemore, Alexandra I. F.

    2013-01-01

    The limited ability of common variants to account for the genetic contribution to complex disease has prompted searches for rare variants of large effect, to partly explain the ‘missing heritability’. Analyses of genome-wide genotyping data have identified genomic structural variants (GSVs) as a source of such rare causal variants. Recent studies have reported multiple GSV loci associated with risk of obesity. We attempted to replicate these associations by similar analysis of two familial-obesity case-control cohorts and a population cohort, and detected GSVs at 11 out of 18 loci, at frequencies similar to those previously reported. Based on their reported frequencies and effect sizes (OR≥25), we had sufficient statistical power to detect the large majority (80%) of genuine associations at these loci. However, only one obesity association was replicated. Deletion of a 220 kb region on chromosome 16p11.2 has a carrier population frequency of 2×10−4 (95% confidence interval [9.6×10−5–3.1×10−4]); accounts overall for 0.5% [0.19%–0.82%] of severe childhood obesity cases (P = 3.8×10−10; odds ratio = 25.0 [9.9–60.6]); and results in a mean body mass index (BMI) increase of 5.8 kg.m−2 [1.8–10.3] in adults from the general population. We also attempted replication using BMI as a quantitative trait in our population cohort; associations with BMI at or near nominal significance were detected at two further loci near KIF2B and within FOXP2, but these did not survive correction for multiple testing. These findings emphasise several issues of importance when conducting rare GSV association, including the need for careful cohort selection and replication strategy, accurate GSV identification, and appropriate correction for multiple testing and/or control of false discovery rate. Moreover, they highlight the potential difficulty in replicating rare CNV associations across different populations. Nevertheless, we show that such studies are

  2. Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.

    PubMed

    Walters, Robin G; Coin, Lachlan J M; Ruokonen, Aimo; de Smith, Adam J; El-Sayed Moustafa, Julia S; Jacquemont, Sebastien; Elliott, Paul; Esko, Tõnu; Hartikainen, Anna-Liisa; Laitinen, Jaana; Männik, Katrin; Martinet, Danielle; Meyre, David; Nauck, Matthias; Schurmann, Claudia; Sladek, Rob; Thorleifsson, Gudmar; Thorsteinsdóttir, Unnur; Valsesia, Armand; Waeber, Gerard; Zufferey, Flore; Balkau, Beverley; Pattou, François; Metspalu, Andres; Völzke, Henry; Vollenweider, Peter; Stefansson, Kári; Järvelin, Marjo-Riitta; Beckmann, Jacques S; Froguel, Philippe; Blakemore, Alexandra I F

    2013-01-01

    The limited ability of common variants to account for the genetic contribution to complex disease has prompted searches for rare variants of large effect, to partly explain the 'missing heritability'. Analyses of genome-wide genotyping data have identified genomic structural variants (GSVs) as a source of such rare causal variants. Recent studies have reported multiple GSV loci associated with risk of obesity. We attempted to replicate these associations by similar analysis of two familial-obesity case-control cohorts and a population cohort, and detected GSVs at 11 out of 18 loci, at frequencies similar to those previously reported. Based on their reported frequencies and effect sizes (OR≥25), we had sufficient statistical power to detect the large majority (80%) of genuine associations at these loci. However, only one obesity association was replicated. Deletion of a 220 kb region on chromosome 16p11.2 has a carrier population frequency of 2×10(-4) (95% confidence interval [9.6×10(-5)-3.1×10(-4)]); accounts overall for 0.5% [0.19%-0.82%] of severe childhood obesity cases (P = 3.8×10(-10); odds ratio = 25.0 [9.9-60.6]); and results in a mean body mass index (BMI) increase of 5.8 kg.m(-2) [1.8-10.3] in adults from the general population. We also attempted replication using BMI as a quantitative trait in our population cohort; associations with BMI at or near nominal significance were detected at two further loci near KIF2B and within FOXP2, but these did not survive correction for multiple testing. These findings emphasise several issues of importance when conducting rare GSV association, including the need for careful cohort selection and replication strategy, accurate GSV identification, and appropriate correction for multiple testing and/or control of false discovery rate. Moreover, they highlight the potential difficulty in replicating rare CNV associations across different populations. Nevertheless, we show that such studies are potentially valuable for

  3. Oligomeric rare-earth metal cluster complexes with endohedral transition metal atoms

    SciTech Connect

    Steinberg, Simon; Zimmermann, Sina; Brühmann, Matthias; Meyer, Eva; Rustige, Christian; Wolberg, Marike; Daub, Kathrin; Bell, Thomas; Meyer, Gerd

    2014-11-15

    Comproportionation reactions of rare-earth metal trihalides (RX{sub 3}) with the respective rare-earth metals (R) and transition metals (T) led to the formation of 22 oligomeric R cluster halides encapsulating T, in 19 cases for the first time. The structures of these compounds were determined by single-crystal X-ray diffraction and are composed of trimers ((T{sub 3}R{sub 11})X{sub 15}-type, P6{sub 3}/m), tetramers ((T{sub 4}R{sub 16})X{sub 28}(R{sub 4}) (P-43m), (T{sub 4}R{sub 16})X{sub 20} (P4{sub 2}/nnm), (T{sub 4}R{sub 16})X{sub 24}(RX{sub 3}){sub 4} (I4{sub 1}/a) and (T{sub 4}R{sub 16})X{sub 23} (C2/m) types of structure) and pentamers ((Ru{sub 5}La{sub 14}){sub 2}Br{sub 39}, Cc) of (TR{sub r}){sub n} (n=2–5) clusters. These oligomers are further enveloped by inner (X{sup i}) as well as outer (X{sup a}) halido ligands, which possess diverse functionalities and interconnect like oligomers through i–i, i–a and/or a–i bridges. The general features of the crystal structures for these new compounds are discussed and compared to literature entries as well as different structure types with oligomeric T centered R clusters. Dimers and tetramers originating from the aggregation of (TR{sub 6}) octahedra via common edges are more frequent than trimers and pentamers, in which the (TR{sub r}) clusters share common faces. - Graphical abstract: Rare earth-metal cluster complexes with endohedral transition metal atoms (TR{sub 6}) may connect via common edges or faces to form dimers, trimers, tetramers and pentamers of which the tetramers are the most prolific. Packing effects and electron counts play an important role. - Highlights: • Rare-earth metal cluster complexes encapsulate transition metal atoms. • Oligomers are built via connection of octahedral clusters via common edges or faces. • Dimers through pentamers with closed structures are known. • Tetramers including a tetrahedron of endohedral atoms are the most prolific.

  4. Synthesis and structural diversity of trivalent rare-earth metal diisopropylamide complexes.

    PubMed

    Spallek, Tatiana; Heß, Oliver; Meermann-Zimmermann, Melanie; Meermann, Christian; Klimpel, Michael G; Estler, Frank; Schneider, David; Scherer, Wolfgang; Tafipolsky, Maxim; Törnroos, Karl W; Maichle-Mössmer, Cäcilia; Sirsch, Peter; Anwander, Reiner

    2016-09-21

    A series of rare-earth metal diisopropylamide complexes has been obtained via salt metathesis employing LnCl3(THF)x and lithium (LDA) or sodium diisopropylamide (NDA) in n-hexane. Reactions with AM : Ln ratios ≥3 gave ate complexes (AM)Ln(NiPr2)4(THF)n (n = 1, 2; Ln = Sc, Y, La, Lu; AM = Li, Na) in good yields. For smaller rare-earth metal centres such as scandium and lutetium, a Li : Ln ratio = 2.5 accomplished ate-free tris(amido) complexes Ln(NiPr2)3(THF). The chloro-bridged dimeric derivatives [Ln(NiPr2)2(μ-Cl)(THF)]2 (Ln = Sc, Y, La, Lu) could be obtained in high yields for Li : Ln = 1.6-2. The product resulting from the Li : La = 1 : 1.6 reaction revealed a crystal structure containing two different molecules in the crystal lattice, [La(NiPr2)2(THF)(μ-Cl)]2·La(NiPr2)3(THF)2. Recrystallization of the chloro-bridged dimers led to the formation of the monomeric species Ln(NiPr2)2Cl(THF)2 (Ln = Sc, Lu) and La(NiPr2)3(THF)2. The reaction of YCl3 and LDA with Li : Y = 2 in the absence of THF gave a bimetallic ate complex LiY(NiPr2)4 with a chain-like structure. For scandium, the equimolar reactions with LDA or NDA yielded crystals of tetrametallic mono(amido) species, {[Sc(NiPr2)Cl2(THF)]2(LiCl)}2 and [Sc(NiPr2)Cl2(THF)]4, respectively. Depending on the Ln(iii) size, AM, and presence of a donor solvent, ate complexes (AM)Ln(NiPr2)4(THF)n show distinct dynamic behaviour as revealed by variable temperature NMR spectroscopy. The presence of weak LnCH(iPr) β-agostic interactions, as indicated by Ln-N-C angles <105°, is corroborated by DFT calculations and NBO analysis. PMID:27471799

  5. Synthesis and structural diversity of trivalent rare-earth metal diisopropylamide complexes.

    PubMed

    Spallek, Tatiana; Heß, Oliver; Meermann-Zimmermann, Melanie; Meermann, Christian; Klimpel, Michael G; Estler, Frank; Schneider, David; Scherer, Wolfgang; Tafipolsky, Maxim; Törnroos, Karl W; Maichle-Mössmer, Cäcilia; Sirsch, Peter; Anwander, Reiner

    2016-09-21

    A series of rare-earth metal diisopropylamide complexes has been obtained via salt metathesis employing LnCl3(THF)x and lithium (LDA) or sodium diisopropylamide (NDA) in n-hexane. Reactions with AM : Ln ratios ≥3 gave ate complexes (AM)Ln(NiPr2)4(THF)n (n = 1, 2; Ln = Sc, Y, La, Lu; AM = Li, Na) in good yields. For smaller rare-earth metal centres such as scandium and lutetium, a Li : Ln ratio = 2.5 accomplished ate-free tris(amido) complexes Ln(NiPr2)3(THF). The chloro-bridged dimeric derivatives [Ln(NiPr2)2(μ-Cl)(THF)]2 (Ln = Sc, Y, La, Lu) could be obtained in high yields for Li : Ln = 1.6-2. The product resulting from the Li : La = 1 : 1.6 reaction revealed a crystal structure containing two different molecules in the crystal lattice, [La(NiPr2)2(THF)(μ-Cl)]2·La(NiPr2)3(THF)2. Recrystallization of the chloro-bridged dimers led to the formation of the monomeric species Ln(NiPr2)2Cl(THF)2 (Ln = Sc, Lu) and La(NiPr2)3(THF)2. The reaction of YCl3 and LDA with Li : Y = 2 in the absence of THF gave a bimetallic ate complex LiY(NiPr2)4 with a chain-like structure. For scandium, the equimolar reactions with LDA or NDA yielded crystals of tetrametallic mono(amido) species, {[Sc(NiPr2)Cl2(THF)]2(LiCl)}2 and [Sc(NiPr2)Cl2(THF)]4, respectively. Depending on the Ln(iii) size, AM, and presence of a donor solvent, ate complexes (AM)Ln(NiPr2)4(THF)n show distinct dynamic behaviour as revealed by variable temperature NMR spectroscopy. The presence of weak LnCH(iPr) β-agostic interactions, as indicated by Ln-N-C angles <105°, is corroborated by DFT calculations and NBO analysis.

  6. Raman spectroscopy of the N-N bond in rare earth dinitrogen complexes.

    PubMed

    Fieser, Megan E; Woen, David H; Corbey, Jordan F; Mueller, Thomas J; Ziller, Joseph W; Evans, William J

    2016-10-01

    Raman spectra have been collected on single crystals of over 20 different rare earth complexes containing reduced dinitrogen ligands to determine if these data will correlate with periodic properties or relative stability. Four types of complexes were examined: [(C5Me5)2Ln]2(μ-η(2):η(2)-N2), 1-Ln, [(C5Me4H)2(THF)Ln]2(μ-η(2):η(2)-N2), 2-Ln, [(C5H4Me)2Ln]2(μ-η(2):η(2)-N2), 3-Ln, and {[(Me3Si)2N]2(THF)Ln}2(μ-η(2):η(2)-N2), 4-Ln. Although each of the complexes contains a side-on bound dinitrogen ligand that is formally (N2)(2-), the N-N bond distances determined by X-ray crystallography range from 1.088(12) to 1.305(6) Å. In the 4-Ln series (Ln = Gd, Tb, Dy, Ho, Er and Tm), the 1.26-1.31 Å N-N distances do not follow any periodic trends, but the Raman stretching frequencies for Gd-Tm were found to decrease regularly with decreasing atomic number and increasing Lewis acidity of the metal. Similar correlations can be seen with the late metals in complexes of the other series, 1-Ln, 2-Ln and 3-Ln, but exceptions exist, particularly for the larger metals. Comparisons between the several types of complexes as a function of ligand were more complicated and variations in stretching frequency as a function of L in the {[(Me3Si)2N]2Y(L)}2(μ-η(2):η(2)-N2) substituted versions of 4-Y did not give trends consistent with bond distances or Gutmann donor numbers. PMID:26940691

  7. Raman spectroscopy of the N-N bond in rare earth dinitrogen complexes.

    PubMed

    Fieser, Megan E; Woen, David H; Corbey, Jordan F; Mueller, Thomas J; Ziller, Joseph W; Evans, William J

    2016-10-01

    Raman spectra have been collected on single crystals of over 20 different rare earth complexes containing reduced dinitrogen ligands to determine if these data will correlate with periodic properties or relative stability. Four types of complexes were examined: [(C5Me5)2Ln]2(μ-η(2):η(2)-N2), 1-Ln, [(C5Me4H)2(THF)Ln]2(μ-η(2):η(2)-N2), 2-Ln, [(C5H4Me)2Ln]2(μ-η(2):η(2)-N2), 3-Ln, and {[(Me3Si)2N]2(THF)Ln}2(μ-η(2):η(2)-N2), 4-Ln. Although each of the complexes contains a side-on bound dinitrogen ligand that is formally (N2)(2-), the N-N bond distances determined by X-ray crystallography range from 1.088(12) to 1.305(6) Å. In the 4-Ln series (Ln = Gd, Tb, Dy, Ho, Er and Tm), the 1.26-1.31 Å N-N distances do not follow any periodic trends, but the Raman stretching frequencies for Gd-Tm were found to decrease regularly with decreasing atomic number and increasing Lewis acidity of the metal. Similar correlations can be seen with the late metals in complexes of the other series, 1-Ln, 2-Ln and 3-Ln, but exceptions exist, particularly for the larger metals. Comparisons between the several types of complexes as a function of ligand were more complicated and variations in stretching frequency as a function of L in the {[(Me3Si)2N]2Y(L)}2(μ-η(2):η(2)-N2) substituted versions of 4-Y did not give trends consistent with bond distances or Gutmann donor numbers.

  8. Nanoclays: Two-dimensional shuttles for rare earth complexes in aqueous solution

    NASA Astrophysics Data System (ADS)

    Lezhnina, M. M.; Bentlage, M.; Kynast, U. H.

    2011-08-01

    Nanoclays are shown to be attractive substrates in at least two major respects. Firstly, Hectorite analogous commercial clays ("Laponite") can facilitate the usage of luminescent rare earth ions in aqueous solution, as their adherence to the clay surface strongly reduces water coordination and thus enables dramatically improved emission intensities. This also holds true for complexes of Tb 3+, which coordinate water in their native crystalline state, as demonstrated for tris(bipyiridine) complexes. For these, the laponite interaction affords a 16-fold gain in emission intensity in aqueous solution over the dissolved complex. Secondly, the two-dimensional, disk-like morphology of the clays enables a sufficient proximity of Ce 3+ and Tb 3+ to allow an energy transfer even at comparably low solution concentrations. In partially laminated, solid powders the efficiencies of the corresponding interlayer species decrease due to intimate interactions with the surrounding silicate and interlayer water, which can, however be counteracted by keeping the disks apart with long-chain, alkylammonium cations as spacers between the disks.

  9. A major light rare-earth element (LREE) resource in the Khanneshin carbonatite complex, southern Afghanistan

    USGS Publications Warehouse

    Tucker, Robert D.; Belkin, Harvey E.; Schulz, Klaus J.; Peters, Stephen G.; Horton, Forrest; Buttleman, Kim; Scott, Emily R.

    2012-01-01

    The rapid rise in world demand for the rare-earth elements (REEs) has expanded the search for new REE resources. We document two types of light rare-earth element (LREE)-enriched rocks in the Khanneshin carbonatite complex of southern Afghanistan: type 1 concordant seams of khanneshite-(Ce), synchysite-(Ce), and parisite-(Ce) within banded barite-strontianite alvikite, and type 2 igneous dikes of coarse-grained carbonatite, enriched in fluorine or phosphorus, containing idiomorphic crystals of khanneshite-(Ce) or carbocernaite. Type 1 mineralized barite-strontianite alvikite averages 22.25 wt % BaO, 4.27 wt % SrO, and 3.25 wt % ∑ LREE2O3 (sum of La, Ce, Pr, and Nd oxides). Type 2 igneous dikes average 14.51 wt % BaO, 5.96 wt % SrO, and 3.77 wt % ∑ LREE2O3. A magmatic origin is clearly indicated for the type 2 LREE-enriched dikes, and type 1 LREE mineralization probably formed in the presence of LREE-rich hydrothermal fluid. Both types of LREE mineralization may be penecontemporaneous, having formed in a carbonate-rich magma in the marginal zone of the central vent, highly charged with volatile constituents (i.e., CO2, F, P2O5), and strongly enriched in Ba, Sr, and the LREE. Based on several assumptions, and employing simple geometry for the zone of LREE enrichment, we estimate that at least 1.29 Mt (million metric tonnes) of LREE2O3 is present in this part of the Khanneshin carbonatite complex.

  10. Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible.

    PubMed

    Dar, Mohd Arif; Alaparthi, Ravikiran; Yalamanchili, Samatha; Santosh, Arvind Babu Rajendra

    2015-10-13

    We present a rare case of concurrent bilateral coronoid hypoplasia and complex odontoma in the mandible, with replacement of missing posterior teeth in both sides of the lower jaw. A 20-year-old woman was diagnosed with bilateral occurrence of coronoid hypoplasia and unerupted complex odontoma after radiographic and histopathological examination. The patient was surgically treated with complete removal of the unerupted complex odontoma and prosthetic replacement of the missing teeth.

  11. Essential Role of the Linear Ubiquitin Chain Assembly Complex in Lymphoma Revealed by Rare Germline Polymorphisms

    PubMed Central

    Yang, Yibin; Schmitz, Roland; Mitala, Joseph; Whiting, Amanda; Xiao, Wenming; Ceribelli, Michele; Wright, George W.; Zhao, Hong; Yang, Yandan; Xu, Weihong; Rosenwald, Andreas; Ott, German; Gascoyne, Randy D.; Connors, Joseph M.; Rimsza, Lisa M.; Campo, Elias; Jaffe, Elaine S.; Delabie, Jan; Smeland, Erlend B.; Braziel, Rita M.; Tubbs, Raymond R.; Cook, James. R.; Weisenburger, Dennis D.; Chan, Wing C.; Wiestner, Adrian; Kruhlak, Michael J.; Iwai, Kazuhiro; Bernal, Federico; Staudt, Louis M.

    2014-01-01

    Constitutive activation of NF-κB is a hallmark of the activated B cell-like (ABC) subtype of diffuse large B cell lymphoma (DLBCL), owing to upstream signals from the B cell receptor (BCR) and MyD88 pathways. The linear polyubiquitin chain assembly complex (LUBAC) attaches linear polyubiquitin chains to IκB kinase γ, a necessary event in some pathways that engage NF-κB. Two germ line polymorphisms affecting the LUBAC subunit RNF31 are rare among healthy individuals (~1%) but enriched in ABC DLBCL (7.8%). These polymorphisms alter RNF31 α helices that mediate binding to the LUBAC subunit RBCK1, thereby increasing RNF31-RBCK1 association, LUBAC enzymatic activity, and NF-κB engagement. In the BCR pathway, LUBAC associates with the CARD11/MALT1/BCL10 adapter complex and is required for ABC DLBCL viability. A stapled RNF31 α-helical peptide based on the ABC DLBCL-associated Q622L polymorphism inhibited RFN31-RBCK1 binding, decreased NF-κB and killed ABC DLBCL cells, credentialing this protein-protein interface as a therapeutic target. PMID:24491438

  12. Microradiographic and microscopic investigation of a rare case of complex odontoma.

    PubMed

    Kaneko, M; Fukuda, M; Sano, T; Ohnishi, T; Hosokawa, Y

    1998-07-01

    An extremely rare case of odontoma that erupted into the oral cavity is presented. The lesion was surgically removed from a 14-year-old girl and examined by soft x-ray radiography, microradiography, and microscopy to determine whether the lesion was complex or compound. Macroscopically, the surface of the lesion was slightly lobular and solid, resembling the surface of an osteoma. The soft x-ray radiograph obtained from the surgical specimen showed radially arranged radiopaque spicules. Microradiographically, dentin was shown to be present in relatively large quantities and to form the bulk of the tumor, with irregular enamel and cementum in small quantities. There were numerous, comparatively well-formed, enamel-free, toothlike structures in the peripheral region of the tumor. Microscopically, the toothlike structures were seen to be arranged radially; this corresponded to the microradiographic findings. Each structure consisted of a central core of pulp tissue encased in a shell of dentin. In the central area of the mass, there was an irregular conglomerate of dentin, enamel, cementum, and pulp tissue. The findings showed that the lesion was a complex odontoma.

  13. Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.

    PubMed

    Ionita-Laza, Iuliana; Ottman, Ruth

    2011-11-01

    The recent progress in sequencing technologies makes possible large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The results of such efforts depend heavily on the use of efficient study designs and analytical methods. We introduce here a unified framework for association testing of rare variants in family-based designs or designs based on unselected affected individuals. This framework allows us to quantify the enrichment in rare disease variants in families containing multiple affected individuals and to investigate the optimal design of studies aiming to identify rare disease variants in complex traits. We show that for many complex diseases with small values for the overall sibling recurrence risk ratio, such as Alzheimer's disease and most cancers, sequencing affected individuals with a positive family history of the disease can be extremely advantageous for identifying rare disease variants. In contrast, for complex diseases with large values of the sibling recurrence risk ratio, sequencing unselected affected individuals may be preferable.

  14. Highly efficient hydrophosphonylation of aldehydes and unactivated ketones catalyzed by methylene-linked pyrrolyl rare earth metal amido complexes.

    PubMed

    Zhou, Shuangliu; Wu, Zhangshuan; Rong, Jiewei; Wang, Shaowu; Yang, Gaosheng; Zhu, Xiancui; Zhang, Lijun

    2012-02-27

    A series of rare earth metal amido complexes bearing methylene-linked pyrrolyl-amido ligands were prepared through silylamine elimination reactions and displayed high catalytic activities in hydrophosphonylations of aldehydes and unactivated ketones under solvent-free conditions for liquid substrates. Treatment of [(Me(3)Si)(2)N](3)Ln(μ-Cl)Li(THF)(3) with 2-(2,6-Me(2)C(6)H(3)NHCH(2))C(4)H(3)NH (1, 1 equiv) in toluene afforded the corresponding trivalent rare earth metal amides of formula {(μ-η(5):η(1)):η(1)-2-[(2,6-Me(2)C(6)H(3))NCH(2)](C(4)H(3)N)LnN(SiMe(3))(2)}(2) [Ln=Y (2), Nd (3), Sm (4), Dy (5), Yb (6)] in moderate to good yields. All compounds were fully characterized by spectroscopic methods and elemental analyses. The yttrium complex was also characterized by (1)H NMR spectroscopic analyses. The structures of complexes 2, 3, 4, and 6 were determined by single-crystal X-ray analyses. Study of the catalytic activities of the complexes showed that these rare earth metal amido complexes were excellent catalysts for hydrophosphonylations of aldehydes and unactivated ketones. The catalyzed reactions between diethyl phosphite and aldehydes in the presence of the rare earth metal amido complexes (0.1 mol%) afforded the products in high yields (up to 99%) at room temperature in short times of 5 to 10 min. Furthermore, the catalytic addition of diethyl phosphite to unactivated ketones also afforded the products in high yields of up to 99% with employment of low loadings (0.1 to 0.5 mol%) of the rare earth metal amido complexes at room temperature in short times of 20 min. The system works well for a wide range of unactivated aliphatic, aromatic or heteroaromatic ketones, especially for substituted benzophenones, giving the corresponding α-hydroxy diaryl phosphonates in moderate to high yields.

  15. Surface structure of the Ag-In-(rare earth) complex intermetallics

    NASA Astrophysics Data System (ADS)

    Hars, S. S.; Sharma, H. R.; Smerdon, J. A.; Yadav, T. P.; Al-Mahboob, A.; Ledieu, J.; Fournée, V.; Tamura, R.; McGrath, R.

    2016-05-01

    We present a study of the surface structure of the Ag-In-RE (RE: rare-earth elements Gd, Tb, and Yb) complex intermetallics using scanning tunneling microscopy and low-energy electron diffraction. The surface of the Ag-In-Yb approximant prepared by sputter-annealing methods under ultrahigh-vacuum conditions produces a flat (100) surface with no facets. However, the Ag-In-Gd and Ag-In-Tb 1/1 approximants, which have a surface miscut of about 12∘ relative to the (100) plane, develop surface facets along various crystallographic directions. The structure of each facet can be explained as a truncation of the rhombic triacontahedral clusters, i.e., the main building blocks of these systems. Despite their differences in atomic structure, symmetry, and density, the facets show common features. The facet planes are In rich. The analysis of the nearest-neighbor atom distances suggests that In atoms form bonds with the RE atoms, which we suggest is a key factor that stabilizes even low-density facet planes.

  16. Synthesis and structural characterization of amido scorpionate rare earth metals complexes.

    PubMed

    Márquez-Segovia, Isabel; Lara-Sánchez, Agustín; Otero, Antonio; Fernández-Baeza, Juan; Castro-Osma, José Antonio; Sánchez-Barba, Luis F; Rodríguez, Ana M

    2014-07-01

    The reactivity of hybrid scorpionate/cyclopentadienyl ligands in the form of the protio derivatives as a mixture of two regioisomers, namely bpzcpH [1-{2,2-bis(3,5-dimethylpyrazol-1-yl)-1,1-diphenylethyl}-1,3-cyclopentadiene and 2-{2,2-bis(3,5-dimethylpyrazol-1-yl)-1,1-diphenylethyl}-1,3-cyclopentadiene] and bpztcpH [1-{2,2-bis(3,5-dimethylpyrazol-1-yl)-1-tert-butylethyl}-1,3-cyclopentadiene and 2-{2,2-bis(3,5-dimethylpyrazol-1-yl)-1-tert-butylethyl}-1,3-cyclopentadiene], with the tris(silylamide) precursors [M{N(SiHMe2)2}3(thf)x] of rare earth metals (including the group 3 metals scandium and yttrium) is related to the atomic radii of the metal centres. The reaction with the precursor containing the smallest ion, [Sc{N(SiHMe2)2}3(thf)], did not proceed even heating at reflux temperature in toluene. The reaction with the precursors that contain a medium-sized metal ion, i.e., [M{N(SiHMe2)2}3(thf)2] (M = Y, Lu), proceeded only at high temperature and gave good yields of the silylenediamide-containing derivatives [M{κ(2)-NN-Me2Si(NSiHMe2)2}(bpzcp)] (M = Y , Lu ) and [M{κ(2)-NN-Me2Si(NSiHMe2)2}(bpztcp)] (M = Y , Lu ) by an double activation of Si-H and Si-N bonds. However, the reaction with the precursors that contained the largest metal ions, i.e., [M{N(SiHMe2)2}3(thf)2] (M = Nd, Sm), proceeded rapidly at room temperature to afford the bis(silylamide) complexes [M{N(SiHMe2)2}2(bpzcp)] (M = Nd , Sm ) and [M{N(SiHMe2)2}2(bpztcp)] (M = Nd , Sm ). Additionally, the alkyl heteroscorpionate yttrium and lutetium complexes [M(CH2SiMe3)2(NNCp)] (M = Y, Lu) reacted with an excess of HN(SiHMe2)2 to give the mixed alkyl/amide derivatives [M{N(SiHMe2)2}(CH2SiMe3)(bpzcp)] (M = Y , Lu ) and [M{N(SiHMe2)2}(CH2SiMe3)(bpztcp)] (M = Y , Lu ). The structures of the complexes were determined by spectroscopic methods and the X-ray crystal structures of , and were also established.

  17. Rare earth element mineralogy, geochemistry, and preliminary resource assessment of the Khanneshin carbonatite complex, Helmand Province, Afghanistan

    USGS Publications Warehouse

    Tucker, Robert D.; Belkin, Harvey E.; Schulz, Klaus J.; Peters, Stephen G.; Buttleman, Kim P.

    2011-01-01

    There is increased concern about the future availability of rare earth elements (REE) because of China's dominance as the supplier of more than 95 percent of world REE output, their decision to restrict exports of rare earth products, and the rapid increase in world-wide consumption of rare earth product. As a result, countries such as the United States, Japan, and member nations of the European Union face a future of tight supplies and high prices for rare earth products unless other sources of REE are found and developed (Long and others, 2010; U.S. Geological Survey, 2011, p. 128-129, 184-185). We report and describe a significant new deposit of light rare earth elements (LREE), estimated at 1 Mt, within the Khanneshin carbonatite complex of south Afghanistan. The potential resource is located in a remote and rugged part of the igneous complex in a region previously identified by Soviet geologists in the 1970s. This report reviews the geologic setting of LREE deposit, presents new geochemical data documenting the grade of LREE mineralization, briefly describes the mineralogy and mineralogical associations of the deposit, and presents a preliminary estimate of LREE resources based on our current understanding of the geology.

  18. Stability constants for the formation of rare earth-inorganic complexes as a function of ionic strength

    NASA Astrophysics Data System (ADS)

    Millero, Frank J.

    1992-08-01

    Recent studies have been made on the distribution of the rare earths (La, Ce, Pr, Nd, Pm, Sm, Eu, Gd, Tb, Dy, Ho, Er, Tm, Yb, Lu) in natural waters relative to their concentration in shales. These metals have also been used as models for the behavior of the trivalent actinides. The speciation of the rare earths in natural waters is modelled by using ionic interaction models which require reliable stability constants. In this paper the stability constants for the formation of lanthanide complexes ( k mx∗) with Cl -, NO 3-, SO 42-, OH -, HCO 3-, H 2PO 4-, HPO 42-, and CO 32- determined in NaClO 44 at various ionic strengths have been extrapolated to infinite dilution using the Pitzer interaction model. The activity coefficients for free ions ( γM, γx) needed for this extrapolation have been estimated from the Pitzer equations. The thermodynamic stability constants ( KMX) and activity coefficients of the various ion pairs ( γMX) were determined from In ( solK MX∗/γ Mγ x) = In K mx+ In (γ MX). The activity coefficients of the ion pairs have been used to determine Pitzer parameters ( BMX) for the rare earth complexes. The values of BMX were found to be the same for complexes of the same charge. These results make it possible to estimate the stability constants for the formation of rare earth complexes over a wide range of ionic strengths. The stability constants have been used to determine the speciation of the lanthanides in seawater and in brines. The carbonate complexes dominate for all natural waters where the carbonate alkalinity is greater than 0.001 eq/L at a pH near 8.

  19. Water-Free Rare Earth-Prussian Blue Type Analogues: Synthesis, Structure, Computational Analysis, and Magnetic Data of {Ln[superscript III](DMF)[subscript 6]Fe[superscript III](CN)[subcsript 6]}[subscript infinity] (Ln = Rare Earths Excluding Pm)

    SciTech Connect

    Wilson, Duane C.; Liu, Shengming; Chen, Xuenian; Meyers, Edward A.; Bao, Xiaoguang; Prosvirin, Andrey V.; Dunbar, Kim R.; Hadad, Christopher M.; Shore, Sheldon G.

    2009-11-04

    Water-free rare earth(III) hexacyanoferrate(III) complexes, {l_brace}Ln(DMF){sub 6}({mu}-CN){sub 2}Fe(CN){sub 4}{r_brace}{sub {infinity}} (DMF = N,N-dimethylformamide; Ln = Sm, 1; Eu, 2; Gd, 3; Tb, 4; Dy, 5; Ho, 6; Er, 7; Tm, 8; Yb, 9; Lu, 10; Y, 11; La, 12; Ce, 13; Pr, 14; Nd, 15), were synthesized in dry DMF through the metathesis reactions of [(18-crown-6)K]{sub 3}Fe(CN){sub 6} with LnX{sub 3}(DMF){sub n} (X = Cl or NO{sub 3}). Anhydrous DMF solutions of LnX{sub 3}(DMF){sub n} were prepared at room temperature from LnCl{sub 3} or LnX{sub 3} {center_dot} nH{sub 2}O under a dynamic vacuum. All compounds were characterized by IR, X-ray powder diffraction (except for 10), and single crystal X-ray diffraction (except for 2, 7, 10). Infrared spectra reveal that a monotonic, linear relationship exists between the ionic radius of the lanthanide and the {nu}{sub {mu}-CN} stretching frequency of 1-10, 12-15 while 11 deviates slightly from the ionic radius relationship. X-ray powder diffraction data are in agreement with powder patterns calculated from single crystal X-ray diffraction results, a useful alternative for bulk sample confirmation when elemental analysis data are difficult to obtain. Eight-coordinate Ln(III) metal centers are observed for all structures. trans-cyanide units of [Fe(CN){sub 6}]{sup 3-} formed isocyanide linkages to Ln(III) resulting in one-dimensional polymeric chains. Structures of compounds 1-9 and 11 are isomorphous, crystallizing in the space group C2/c. Structures of compounds 12-15 are also isomorphous, crystallizing in the space group P2/n. One unique polymeric chain exists in the structures of 1-9 and 11 while two unique polymeric chains exist in structures of 12-15. One of the polymeric chains of 12-15 is similar to that observed for 1-9, 11 while the other is more distorted and has a shorter Ln-Fe distance. Magnetic susceptibility measurements for compounds 3-6, 8, 11 were performed on polycrystalline samples of the compounds.

  20. Synthesis, DNA binding, photo-induced DNA cleavage, cytotoxicity studies of a family of heavy rare earth complexes.

    PubMed

    Chen, Gong-Jun; Wang, Zhi-Gang; Qiao, Xin; Xu, Jing-Yuan; Tian, Jin-Lei; Yan, Shi-Ping

    2013-10-01

    As a continuing investigation of our previous studies about the influence of the different rare earth metal ions on the bioactivity, a family of heavy rare earth metal complexes, [RE(acac)3(dpq)] (RE=Tb (1), Dy (2), Ho (3), Er (4), Tm (5), Yb (6), Lu (7)) and [RE(acac)3(dppz)]·CH3OH (RE=Tb (8), Dy (9), Ho (10), Er (11), Tm (12), Yb (13), Lu (14) viz. acetylacetonate (acac), dipyrido[3,2-d:20,30-f]quinoxaline (dpq), dipyrido[3,2-a:20,30-c] phenazine (dppz)), has been synthesized and their biological activities were also investigated. On the irradiation with UV-A light of 365nm or ambient light, all complexes exhibit efficient DNA cleavage activity via the mechanistic pathway involving the formation of singlet oxygen and hydroxyl radical as the reactive species. In addition, the in vitro cytotoxicity of these complexes on HeLa cells has been examined by MTT assay, which indicate that these compounds have the potential to act as effective anticancer drugs. The results of the above biological experiments also reveal that the choice of different rare earth metal ions has little influence on the DNA binding, DNA cleavage and cytotoxicity.

  1. Cationic methyl complexes of the rare-earth metals: an experimental and computational study on synthesis, structure, and reactivity.

    PubMed

    Kramer, Mathias U; Robert, Dominique; Arndt, Stefan; Zeimentz, Peter M; Spaniol, Thomas P; Yahia, Ahmed; Maron, Laurent; Eisenstein, Odile; Okuda, Jun

    2008-10-20

    Synthesis, structure, and reactivity of two families of rare-earth metal complexes containing discrete methyl cations [LnMe(2-x)(thf)n]((1+x)+) (x = 0, 1; thf = tetrahydrofuran) have been studied. As a synthetic equivalent for the elusive trimethyl complex [LnMe3], lithium methylates of the approximate composition [Li3LnMe6(thf)n] were prepared by treating rare-earth metal trichlorides [LnCl3(thf)n] with 6 equiv of methyllithium in diethyl ether. Heteronuclear complexes of the formula [Li3Ln2Me9L(n)] (Ln = Sc, Y, Tb; L = Et2O, thf) were isolated by crystallization from diethyl ether. Single crystal X-ray diffraction studies revealed a heterometallic aggregate of composition [Li3Ln2Me9(thf)n(Et2O)m] with a [LiLn2Me9](2-) core (Ln = Sc, Y, Tb). When tris(tetramethylaluminate) [Ln(AlMe4)3] (Ln = Y, Lu) was reacted with less than 1 equiv of [NR3H][BPh4], the dimethyl cations [LnMe2(thf)n][BPh4] were obtained. The coordination number as well as cis/trans isomer preference was studied by crystallographic and computational methods. Dicationic methyl complexes of the rare-earth metals of the formula [LnMe(thf)n][BAr4]2 (Ln = Sc, Y, La-Nd, Sm, Gd-Lu; Ar = Ph, C6H4F-4) were synthesized, by protonolysis of either the ate complex [Li3LnMe6(thf)n] (Ln = Sc, Y, Gd-Lu) or the tris(tetramethylaluminate) [Ln(AlMe4)3] (Ln = La-Nd, Sm, Dy, Gd) with ammonium borates [NR3H][BAr4] in thf. The number of coordinated thf ligands varied from n = 5 (Ln = Sc, Tm) to n = 6 (Ln = La, Y, Sm, Dy, Ho). The configuration of representative examples was determined by X-ray diffraction studies and confirmed by density-functional theory calculations. The highly polarized bonding between the methyl group and the rare-earth metal center results in the reactivity pattern dominated by the carbanionic character and the pronounced Lewis acidity: The dicationic methyl complex [YMe(thf)6](2+) inserted benzophenone as an electrophile to give the alkoxy complex [Y(OCMePh2)(thf)5](2+). Nucleophilic addition of

  2. Reactivity of functionalized indoles with rare-earth metal amides. Synthesis, characterization and catalytic activity of rare-earth metal complexes incorporating indolyl ligands.

    PubMed

    Feng, Zhijun; Wei, Yun; Zhou, Shuangliu; Zhang, Guangchao; Zhu, Xiancui; Guo, Liping; Wang, Shaowu; Mu, Xiaolong

    2015-12-21

    The reactivity of several functionalized indoles 2-(RNHCH2)C8H5NH (R = C6H5 (1), (t)Bu (2), 2,6-(i)Pr2C6H3 (3)) with rare-earth metal amides is described. Reactions of 1 or 2 with [(Me3Si)2N]3RE(μ-Cl)Li(THF)3 (RE = Eu, Yb) respectively produced the europium complexes [2-(C6H5N[double bond, length as m-dash]CH)C8H5N]2Eu[N(SiMe3)2] (4) and [2-((t)BuN[double bond, length as m-dash]CH)C8H5N]Eu[N(SiMe3)2]2 (5), and the ytterbium complex [2-((t)BuN[double bond, length as m-dash]CH)C8H5N]2Yb[N(SiMe3)2] (6), containing bidentate anionic indolyl ligands via dehydrogenation of the amine to the imine. In contrast, reactions of the more sterically bulky indole 3 with [(Me3Si)2N]3RE(μ-Cl)Li(THF)3 afforded complexes [2-(2,6-(i)Pr2C6H3NCH2)C8H5N]RE[N(SiMe3)2](THF)2 (RE = Yb (7), Y (8), Er (9), Dy (10)) with the deprotonated indolyl ligand. While reactions of 3 with yttrium and ytterbium amides in refluxing toluene respectively gave the complexes [2-(2,6-(i)Pr2C6H3N[double bond, length as m-dash]CH)C8H5N]3Y (11) and [2-(2,6-(i)Pr2C6H3N[double bond, length as m-dash]CH)C8H5N]2Yb(II)(THF)2 (12), along with transformation of the amino group to the imino group, and also with a reduction of Yb(3+) to Yb(2+) in the formation of 12. Reactions of 3 with samarium and neodymium amides provided novel dinuclear complexes {[μ-η(5):η(1):η(1)-2-(2,6-(i)Pr2C6H3NCH2)C8H5N]RE[N(SiMe3)2]}2 (RE = Sm (13), Nd (14)) having indolyl ligands in μ-η(5):η(1):η(1) hapticities. The pathway for the transformation of the amino group to the imino group is proposed on the basis of the experimental results. The new complexes displayed excellent activity in the intramolecular hydroamination of aminoalkenes. PMID:26548974

  3. A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases

    PubMed Central

    Liu, P; Zhang, Y; Lu, Y; Long, J; Shen, H; Zhao, L.; Xu, F; Xiao, P; Xiong, D; Liu, Y; Recker, R; Deng, H

    2005-01-01

    Background: The haplotype based association method offers a powerful approach to complex disease gene mapping. In this method, a few common haplotypes that account for the vast majority of chromosomes in the populations are usually examined for association with disease phenotypes. This brings us to a critical question of whether rare haplotypes play an important role in influencing disease susceptibility and thus should not be ignored in the design and execution of association studies. Methods: To address this question we surveyed, in a large sample of 1873 white subjects, six candidate genes for osteoporosis (a common late onset bone disorder), which had 29 SNPs, an average marker density of 13 kb, and covered a total of 377 kb of the DNA sequence. Results: Our empirical data demonstrated that two rare haplotypes of the parathyroid hormone (PTH)/PTH related peptide receptor type 1 and vitamin D receptor genes (PTHR1 and VDR) with frequencies of 1.1% and 2.9%, respectively, had significant effects on osteoporosis phenotypes (p = 4.2 x 10–6 and p = 1.6 x 10–4, respectively). Large phenotypic differences (4.0∼5.0%) were observed between carriers of these rare haplotypes and non-carriers. Carriers of the two rare haplotypes showed quantitatively continuous variation in the population and were derived from a wide spectrum rather than from one extreme tail of the population phenotype distribution. Conclusions: These findings indicate that rare haplotypes/variants are important for disease susceptibility and cannot be ignored in genetics studies of complex diseases. The study has profound implications for association studies and applications of the HapMap project. PMID:15744035

  4. Rare Diseases

    MedlinePlus

    ... Are often very complex Are often caused by changes in genes It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find ...

  5. Rare-earth metal π-complexes of reduced arenes, alkenes, and alkynes: bonding, electronic structure, and comparison with actinides and other electropositive metals.

    PubMed

    Huang, Wenliang; Diaconescu, Paula L

    2015-09-21

    Rare-earth metal complexes of reduced π ligands are reviewed with an emphasis on their electronic structure and bonding interactions. This perspective discusses reduced carbocyclic and acyclic π ligands; in certain categories, when no example of a rare-earth metal complex is available, a closely related actinide analogue is discussed. In general, rare-earth metals have a lower tendency to form covalent interactions with π ligands compared to actinides, mainly uranium. Despite predominant ionic interactions in rare-earth chemistry, covalent bonds can be formed with reduced carbocyclic ligands, especially multiply reduced arenes.

  6. HM{sup +}–RG complexes (M = group 2 metal; RG = rare gas): Physical vs. chemical interactions

    SciTech Connect

    Harris, Joe P.; Dodson, Hannah; Wright, Timothy G.; Breckenridge, W. H.

    2015-04-21

    Previous work on the HM{sup +}–He complexes (M = Be–Ra) has been extended to the cases of the heavier rare gas atoms, HM{sup +}–RG (RG = Ne–Rn). Optimized geometries and harmonic vibrational frequencies have been calculated using MP2 theory and quadruple-ζ quality basis sets. Dissociation energies for the loss of the rare gas atom have been calculated at these optimized geometries using coupled cluster with single and double excitations and perturbative triples, CCSD(T)theory, extrapolating interaction energies to the basis set limit. Comparisons are made between the present data and the previously obtained helium results, as well as to those of the bare HM{sup +} molecules; furthermore, comparisons are made to the related M{sup +}–RG and M{sup 2+}–RG complexes. Partial atomic charge analyses have also been undertaken, and these used to test a simple charge-induced dipole model. Molecular orbital diagrams are presented together with contour plots of the natural orbitals from the quadratic configuration with single and double excitations (QCISD) density. The conclusion is that the majority of these complexes are physically bound, with very little sharing of electron density; however, for M = Be, and to a lesser extent M = Mg, some evidence for chemical effects is seen in HM{sup +}–RG complexes involving RG atoms with the higher atomic numbers.

  7. [Photochromic properties of complexes of curcumin aniline schiff base with rare earth].

    PubMed

    Song, Yu-Min; Yang, Mei-Ling; Ma, Jun-Huai; Zhang, Yu-Mei

    2013-12-01

    Using Ce, La, Nd (III) nitrate and a curcumin aniline schiff base and a curcumin bis (4-methyl aniline) schiff base as raw materials, six complexes were synthesized. Through the molar conductance, IR, TG-DTA and element analysis motheds, the structures of complexes were characterized. Moreover, the properties of UV-Visible spectra and photochromic properties of the complex, and the solvatechromic performance in organic solvents were explored. The experiments showed that the complexes have good photochromic and solvate-chromic properties. The fluorescence intensity and UV-Visible spectra intensity were reduced under exposure,and the color of the complex solution became light. The complexes have different UV-Visible spectra in difference organic solvents. The relationship between photochromic properties and time was also studied.

  8. Ferrocene-decorated (phthalocyaninato)(porphyrinato) double- and triple-decker rare earth complexes: synthesis, structure, and electrochemical properties.

    PubMed

    Zhu, Peihua; Zhang, Xiuwen; Wang, Hailong; Zhang, Yuexing; Bian, Yongzhong; Jiang, Jianzhuang

    2012-05-21

    A series of four mixed (phthalocyaninato)(porphyrinato) rare earth double-decker complexes (Pc)M[Por(Fc)(2)] [Pc = phthalocyaninate; Por(Fc)(2) = 5,15-di(ferrocenyl)-porphyrinate; M = Eu (1), Y (2), Ho (3), Lu (4)] and their europium(III) triple-decker counterpart (Pc)Eu(Pc)Eu[Por(Fc)(2)] (5), each with two ferrocenyl units at the meso-positions of their porphyrin ligands, have been designed and prepared. The double- and triple-decker complexes 1-5 were characterized by elemental analysis and various spectroscopic methods. The molecular structures of two double-deckers 1 and 4 were also determined by single-crystal X-ray diffraction analysis. Electrochemical studies of these novel sandwich complexes revealed two consecutive ferrocene-based one-electron oxidation waves, suggesting the effective electronic coupling between the two ferrocenyl units. Nevertheless, the separation between the two consecutive ferrocene-based oxidation waves increases from 1 to 4, along with the decrease of rare earth ionic radius, indicating the effect of rare earth size on tuning the coupling between the two ferrocenyl units. Furthermore, the splitting between the two ferrocene-based one-electron oxidations for triple-decker 5 is even smaller than that for 1, showing that the electronic interaction between the two ferrocene centers can also be tuned through changing the linking sandwich framework from double-decker to triple-decker. For further understanding of the electronic coupling between ferrocenyl groups, DFT calculation is carried out to clarify the electronic delocalization and the molecular orbital distribution in these double-decker complexes.

  9. Single molecule magnet behaviour in a rare trinuclear {Cr(III)Dy} methoxo-bridged complex.

    PubMed

    Car, Pierre-Emmanuel; Favre, Annaïck; Caneschi, Andrea; Sessoli, Roberta

    2015-09-28

    The reaction of the chromium(iii) chloride tetrahydrofuran complex with the dipivaloylmethane ligand, the lanthanide alcoholic salt DyCl3·CH3OH and the 1,1,1-tris(hydroxymethyl)-ethane ligand resulted in the formation of a new trinuclear chromium-dysprosium complex. Magnetic investigations revealed that the new 3d-4f complex exhibits single molecule magnet behaviour. PMID:26282265

  10. Rare earth element abundances in rocks and minerals from the Fiskenaesset Complex, West Greenland. [comparison with lunar anorthosites

    NASA Technical Reports Server (NTRS)

    Henderson, P.; Fishlock, S. J.; Laul, J. C.; Cooper, T. D.; Conard, R. L.; Boynton, W. V.; Schmitt, R. A.

    1976-01-01

    The paper reports activation-analysis determinations of rare-earth-element (REE) and other trace-element concentrations in selected rocks, plagioclase, and mafic separates from the Fiskenaesset Complex. The REE abundances are found to be very low and atypical in comparison with other terrestrial anorthosites. The plagioclases are shown to be characterized by a deficiency in heavy RE elements relative to light ones and a positive Eu anomaly, while the mafic separates are enriched in heavy rare earths and have no Eu anomaly, except in one sample. It is found that the bulk and trace-element abundances of the plagioclases are similar to those observed in some lunar anorthosites, but the degree of Eu anomaly is less in the plagioclases. The data are taken as confirmation of the idea that fractionation processes were involved in the origin of the Complex, and it is concluded that the Complex may have been produced from a magma generated by partial melting of a garnet-bearing source.

  11. Single-Molecule-Magnet Behavior and Fluorescence Properties of 8-Hydroxyquinolinate Derivative-Based Rare-Earth Complexes.

    PubMed

    Gao, Hong-Ling; Jiang, Li; Wang, Wen-Min; Wang, Shi-Yu; Zhang, Hong-Xia; Cui, Jian-Zhong

    2016-09-01

    Five tetranuclear rare-earth complexes, [RE4(dbm)4L6(μ3-OH)2] [HL = 5- (4-fluorobenzylidene)-8-hydroxylquinoline; dbm = 1,3-diphenyl-1,3-propanedione; RE = Y (1), Eu (2), Tb (3), Dy (4), Lu (5)], have been synthesized and completely characterized. The X-ray structural analyses show that each [RE4] complex is of typical butterfly or rhombus topology. Each RE(III) center exists in an eight-coordinated square-antiprism environment. Magnetic studies reveal that complex 4 displays single-molecule-magnet behavior below 10 K under a zero direct-current field, with an effective anisotropy barrier (ΔE/kB = 56 K). The fluorescence properties of complexes 1-5 were also investigated. Complexes 2-4 showed their characteristic peaks for the corresponding RE(III) center, while complexes 1 and 5 showed the same emission peaks with the ligand when they were excited at the same wavelength. PMID:27560459

  12. Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes.

    PubMed

    Leiserson, Mark D M; Vandin, Fabio; Wu, Hsin-Ta; Dobson, Jason R; Eldridge, Jonathan V; Thomas, Jacob L; Papoutsaki, Alexandra; Kim, Younhun; Niu, Beifang; McLellan, Michael; Lawrence, Michael S; Gonzalez-Perez, Abel; Tamborero, David; Cheng, Yuwei; Ryslik, Gregory A; Lopez-Bigas, Nuria; Getz, Gad; Ding, Li; Raphael, Benjamin J

    2015-02-01

    Cancers exhibit extensive mutational heterogeneity, and the resulting long-tail phenomenon complicates the discovery of genes and pathways that are significantly mutated in cancer. We perform a pan-cancer analysis of mutated networks in 3,281 samples from 12 cancer types from The Cancer Genome Atlas (TCGA) using HotNet2, a new algorithm to find mutated subnetworks that overcomes the limitations of existing single-gene, pathway and network approaches. We identify 16 significantly mutated subnetworks that comprise well-known cancer signaling pathways as well as subnetworks with less characterized roles in cancer, including cohesin, condensin and others. Many of these subnetworks exhibit co-occurring mutations across samples. These subnetworks contain dozens of genes with rare somatic mutations across multiple cancers; many of these genes have additional evidence supporting a role in cancer. By illuminating these rare combinations of mutations, pan-cancer network analyses provide a roadmap to investigate new diagnostic and therapeutic opportunities across cancer types.

  13. Synthesis of Metal Oxide Particles Using Reaction Route from Rare-Earth Metal-EDTA Complexes

    NASA Astrophysics Data System (ADS)

    Komatsu, Keiji; Tsuchiya, Takaaki; Hasebe, Yasuhiro; Sekiya, Tetsuo; Toyama, Ayumu; Nakamura, Atsushi; Akasaka, Hiroki; Saitoh, Hidetoshi

    2014-06-01

    Highly dense, spherical yttria (Y2O3) and erbia (Er2O3) particles were synthesized from their corresponding metal-ethylenediaminetetraacetic (EDTA) complexes. The EDTA·Y·H and EDTA·Er·H complexes were prepared in powdered form. These complexes were used as the staring materials for synthesis of the Y2O3 and Er2O3 particles. The particles were synthesized using an H2-O2 flame produced with a commercial flame spray apparatus. Crystalline structure, surface and cross-sectional morphologies, and elemental distribution of the synthesized particles were investigated. It was confirmed that the crystalline phases of the Y2O3 and Er2O3 particles were homogeneous. In addition, the elemental distribution of the particles was uniform. These results indicate that dense, spherical particles of Y2O3 and Er2O3 have been synthesized with EDTA·Y·H and EDTA·Er·H complexes, respectively.

  14. Single ventricle, bicuspid aorta and interatrial wall aneurysm as a rare complex adult congenital heart disease: a case report

    PubMed Central

    2009-01-01

    Background Single ventricle, bicuspid aortic valve and interatrial wall aneurysm in adulthood are a rare and unique case in medical literature. This presented case with congenital heart disease has never been treated surgically and clinical consequences seriously presented in adulthood. Case presentation A 27 year old man with complex congenital heart disease presented. At the age of six, the single ventricle was ultrasonographly diagnosed, but at age 27 clinical consequences started to be seriously present. We explored his history, clinical course, physical examination, laboratory findings, medical treatments and actual patient condition. Conclusion The possibilities for surgical evaluation are presented. PMID:19183494

  15. Two complex associations of an HBD mutation and a rare α hemoglobinopathy.

    PubMed

    Joly, Philippe; Lacan, Philippe; Garcia, Caroline; Francina, Alain

    2013-01-01

    We present two case reports in which an HBD mutation is present with a rare α hemoglobinopathy that substantially complicates the associated phenotype. In the first case, a new δ-globin variant, Hb A2-Pierre-Bénite [δ83(EF7)Gly→Arg; HBD: c.250G>C] is associated with Hb Groene Hart [α119(H2)Pro→Ser (α1); HBA1: c.358C>T], an α-thalassemic variant. In the second case, a δ(+)-thalassemic variant, δ4(A1)Thr→Ile; HBD: c.14C>T, is associated with a newly described deletion of the hypersensitive site 40 (HS-40) region on the α-globin gene cluster. In both patients, a δ-globin mutation was suspected because of an abnormally low Hb A2 level, whereas the α hemoglobinopathy was sought to explain the slight microcytosis and hypochromia presented by the probands.

  16. A rare case of massive carpal osteoblastoma requiring complex reconstructive surgery.

    PubMed

    Dunda, S E; Kauczok, J; Demir, E; Braunschweig, T; Pallua, N

    2013-07-01

    An osteoblastoma is a rare, commonly benign, osteoid-producing neoplasm of the bone with an incidence of 2% of all primary bone tumours. We present a case of a 54-year-old patient with persisting carpal pain and massive swelling of the hand for a period of 4 years. Incision biopsies revealed the histopathological finding of a carpal osteoblastoma. After complete tumour excision, including the carpal and, in parts, metacarpal bones, reconstructive surgery was performed with a free osteocutaneous iliac crest flap to obtain a natural hand contour and the best possible hand function. Follow-up revealed improvement of the hand function in terms of flexion, extension and strength without discomfort or further pain. Thus, ongoing carpal pain should lead to an intensive search with further diagnostic measures such as magnetic resonance imaging (MRI) scan as well as biopsies, if necessary, to obtain the correct diagnosis.

  17. Modeling rare earth complexes: Sparkle/AM1 parameters for thulium (III)

    NASA Astrophysics Data System (ADS)

    Freire, Ricardo O.; Rocha, Gerd B.; Simas, Alfredo M.

    2005-08-01

    The Sparkle/AM1 model, recently defined for Eu(III), Gd(III) and Tb(III) [R.O. Freire, G.B. Rocha, A.M., Simas, Inorg. Chem. 44 (2005) 3299], is extended to Tm(III). A set of 15 structures of high crystallographic quality from the Cambridge Crystallographic Database, with ligands chosen to be representative of all complexes with nitrogen or oxygen directly bonded to the Tm(III) ion, was used as a training set. For the 15 complexes, the Sparkle/AM1 unsigned mean error, for all interatomic distances between the Tm(III) ion and the oxygen or nitrogen ligand atoms of the first sphere of coordination, is 0.07 Å, a level of accuracy useful for luminescent complex design.

  18. Rare earth element evidence for the petrogenesis of the banded series of the Stillwater Complex, Montana, and its anorthosites

    USGS Publications Warehouse

    Loferski, P.J.; Arculus, R.J.; Czamanske, G.K.

    1994-01-01

    A rare earth element (REE) study was made by isotope-dilution mass spectrometry of plagioclase separates from a variety of cumulates stratigraphically spanning the Banded series of the Stillwater Complex, Montana. Evaluation of parent liquid REE patterns, calculated on the basis of published plagioclase-liquid partition coefficients, shows that the range of REE ratios is too large to be attributable to fractionation of a single magma type. At least two different parental melts were present throughout the Banded series. This finding supports hypotheses of previous workers that the Stillwater Complex formed from two different parent magma types, designated the anorthosite- or A-type liquid and the ultramafic- or U-type liquid. -from Authors

  19. Mono(boratabenzene) rare-earth metal dialkyl complexes: synthesis, structure and catalytic behaviors for styrene polymerization.

    PubMed

    Wang, Xiufang; Leng, Xuebing; Chen, Yaofeng

    2015-03-28

    Four mono(boratabenzene) rare-earth metal dialkyl complexes, [(3,5-Me2-C5H3BR)Ln(CH2SiMe3)2(THF)] (1: R = NEt2, Ln = Sc; 2: R = NEt2, Ln = Lu; 3: R = Ph, Ln = Sc; 4: R = Ph, Ln = Lu), were synthesized efficiently via a one-pot strategy with Li[3,5-Me2-C5H3BR] (R = NEt2, Ph), LnCl3(THF)x (Ln = Sc, x = 3; Ln = Lu, x = 0), and LiCH2SiMe3. The solid-state structures of 1 and 2 were determined by single-crystal X-ray diffraction. Variable-temperature NMR studies indicated that the energy barrier for the rotation of aminoboratabenzene in 1 (ΔG‡ ≈ 71 kJ mol−1) is higher than that of phenylboratabenzene in 3 (ΔG‡ ≈ 59 kJ mol−1). These mono(boratabenzene) rare-earth metal dialkyl complexes’ catalytic behaviors for styrene polymerization were investigated, and found that mono(boratabenzene) scandium dialkyl complexes show high catalytic activities for syndiotactic polymerization upon activation with cocatalysts.

  20. Synthesis and characterization of complexes of rare earth picrates and rac-bis(ethylsulfinyl)methane

    SciTech Connect

    Andrade Da Silva, M.A.; Zaim, M.H.; Isolani, P.C.

    1995-12-31

    The compound {beta}-dissulfoxide bis(ethylsufinyl)methane (besm) was prepared by oxidation of bis(ethylthio)methane with hydrogen peroxide in acetic acid, and obtained as a mixture of its meso and d,1 diastereomers. An analytical sample was obtained by recrystallization from chloroform-diethyl ether. The racemic-bis(ethylsulfinyl)methane was characterized and studied by CHS elemental analysis, high resolution mass spectrometry, infrared spectra, {sup 1}H and {sup 13}C NMR. A series of compounds with composition RE(pic){sub 3}2rac-besm [RE = La, Ce, Nd, Eu, Gd, Er, Tm, Yb, Lu and Y; pic = picrate and rac-besm = racemic-bis(ethylsulfinyl)methane] were synthesized and characterized by CHNS elemental analysis and rare earths complexometric titration with EDTA, conductance measurements, X-ray powder patterns, infrared spectra, visible absorption of the neodymium and emission spectra of the europium materials. The coordination polyhedron around the Eu{sup 3+} center is probably a dodecahedron with coordination number eight. 19 refs., 2 figs., 4 tabs.

  1. Modeling rare earth complexes: Sparkle/PM3 parameters for thulium(III)

    NASA Astrophysics Data System (ADS)

    Freire, Ricardo O.; Rocha, Gerd B.; Simas, Alfredo M.

    2006-07-01

    The Sparkle model, recently defined for Tm(III) within AM1 [R.O. Freire, G.B. Rocha, A.M. Simas, Chem. Phys. Lett. 411 (2005) 61], is now extended to PM3. For the same 15 complexes previously used, the Sparkle/PM3 unsigned mean error, for all interatomic distances between the Tm(III) ion and the directly coordinating oxygen or nitrogen atoms, is 0.08 Å, a level of accuracy equivalent to the Sparkle/AM1 figure of 0.07 Å, as well as to results from present day ab initio effective core potential calculations. The results thus indicate that both Sparkle/AM1 and Sparkle/PM3 models may prove useful for luminescent Tm(III) complex design.

  2. Double-decker bis(tetradiazepinoporphyrazinato) rare earth complexes: crucial role of intramolecular hydrogen bonding.

    PubMed

    Tarakanova, Ekaterina N; Trashin, Stanislav A; Simakov, Anton O; Furuyama, Taniyuki; Dzuban, Alexander V; Inasaridze, Liana N; Tarakanov, Pavel A; Troshin, Pavel A; Pushkarev, Victor E; Kobayashi, Nagao; Tomilova, Larisa G

    2016-07-26

    A series of homoleptic bis{tetrakis(5,7-bis(4-tert-butylphenyl)-6H-1,4-diazepino)[2,3-b,g,l,q]porphyrazinato}lanthanide sandwich complexes [(tBuPh)DzPz]2Ln (Ln = Lu, Er, Dy, Eu, Nd, Ce, La) were prepared and their physicochemical properties were studied to gain insight into the nature of specific interactions in diazepinoporphyrazines. The effect of annulated diazepine moieties and the Ln ionic radius on the properties of the complexes was investigated in comparison with double-decker phthalocyanines. A combination of experimental and theoretical studies revealed the presence of two types of hydrogen bonding interactions in the metal-free porphyrazine and the corresponding sandwich complexes, namely, interligand C-H(ax)N(meso) hydrogen bonding and O-HN(Dz) ligand-water interaction. The interligand hydrogen bonding imparts high stability of the ligand dimer and the double-decker compounds in a reduced state. This work is the first comprehensive investigation into the fundamental understanding of the unusual properties of diazepine-containing macroheterocycles. PMID:27396712

  3. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

    PubMed Central

    Kotzot, D.

    2001-01-01

    OBJECTIVE—To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions.
DESIGN—Searching published reports in Medline.
RESULTS—The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a non-homologous Robertsonian translocation, eight cases with UPD and two isochromosomes, one of the short arm and one of the long arm of a non-acrocentric chromosome, 39 cases with UPD and an isochromosome of the long arm of two homologous acrocentric chromosomes, one case of UPD and an isochromosome 8 associated with a homozygous del(8)(p23.3pter), and 21 cases with UPD of a whole or parts of a chromosome associated with a complex karyotype. Segmental UPD is formed by somatic recombination (isodisomy) or by trisomy rescue. In the latter mechanism, a meiosis I error is associated with meiotic recombination and an additional somatic exchange between two non-uniparental chromatids. Subsequently, the chromatid that originated from the disomic gamete is lost (iso- and heterodisomy). In cases of UPD associated with one isochromosome of the short arm and one isochromosome of the long arm of a non-acrocentric chromosome and in cases of UPD associated with a true isochromosome of an acrocentric chromosome, mitotic complementation is assumed. This term describes the formation by misdivision at the centromere during an early mitosis of a monosomic zygote. In cases of UPD associated with an additional marker chromosome, either mitotic formation of the marker chromosome in a trisomic zygote or fertilisation of a gamete with a marker chromosome formed in meiosis by a disomic gamete or by a normal gamete and subsequent duplication are possible.
CONCLUSIONS—Research in the field of segmental and/or complex UPD may help to explain undiagnosed non-Mendelian disorders, to recognise hotspots for meiotic and mitotic

  4. Synthesis of mixed-ligand complexes of rare-earth elements

    SciTech Connect

    Panyushkin, V.T.; Akhrimenko, N.V.

    1994-09-10

    The authors have synthesized mixed-ligand complexes of Nd(III), Sm(III), Eu(III), Tb(III), Dy(III), Ho(III), Er(III), and Yb(III) with acetylacetone (I) and unsaturated organic acids (II): maleic, fumaric, acrylic, and methacrylic. According to elemental analyses and thermogravimetric data the composition of Ln(I){sub 2}(II) {center_dot} 3H{sub 2}O does not depend on the basicity of the acid. The structure of compounds prepared was studied by IR, NMR, and luminescent spectroscopy.

  5. Synthesis, structure, and spectroscopic and magnetic properties of mesomorphic octakis(hexylthio)-substituted phthalocyanine rare-earth metal sandwich complexes.

    PubMed

    Gürek, Ayse Gül; Basova, Tamara; Luneau, Dominique; Lebrun, Colette; Kol'tsov, Evgeny; Hassan, Aseel K; Ahsen, Vefa

    2006-02-20

    The syntheses of new bis[octakis(hexylthio)phthalocyaninato] rare-earth metal(III) double-decker complexes [(C6S)8-Pc]2M (M = Gd(III), Dy(III), and Sm(III)) (2-4, respectively) are described. These compounds are very soluble in most common organic solvents. They have been fully characterized using elemental analysis, infrared, UV-vis spectroscopy, and mass spectrometry. The crystal structures of compounds 2-4 have been determined by X-ray diffraction on a single crystal. They are isostructural and crystallize in the monoclinic space group (space group C2/c). Their lattice constants have been determined in the following order: (2) a = 31.629(4) Angstroms, b = 32.861(4) Angstroms, c = 20.482(2) Angstroms, beta = 126.922(2) degrees, V = 17019(3) Angstroms(3); (3) a = 31.595(2) Angstroms, b = 32.816(2) Angstroms, c = 20.481(1) Angstroms, beta = 127.005(1) degrees, V = 16958(2) Angstroms(3); (4) a = 31.563(2) Angstroms, b = 32.796(2) Angstroms, c = 20.481(1) Angstroms, beta = 127.032 degrees, V = 16924(2) Angstroms(3). The magnetic properties of compounds 2-4 were studied, and it was revealed that the lanthanide ions and the radical delocalized on the two phthalocyanine rings are weakly interacting. The mesogenic properties of these new materials were studied by differential scanning calorimetry and optical microscopy. These phthalocyanine derivatives form columnar-hexagonal (Col(h)) mesophases. Thin films of bis[octakis(hexylthio)phthalocyaninato] rare-earth metal(III) double-decker complexes (2-4) were prepared by a spin-coating technique. Thermally induced molecular reorganization within films of bis[octakis(hexylthio)phthalocyaninato] rare-earth metal(III) double-decker complexes (2-4) was studied by the methods of ellipsometry, UV-vis absorption spectroscopy, and atomic force microscopy. Heat treatment produces molecular ordering, which is believed to be due to stacking interaction between neighboring phthalocyanine moieties. PMID:16471979

  6. The Early Jurassic Bokan Mountain peralkaline granitic complex (southeastern Alaska): geochemistry, petrogenesis and rare-metal mineralization

    USGS Publications Warehouse

    Dostal, Jaroslav; Kontak, Daniel J.; Karl, Susan M.

    2014-01-01

    The Early Jurassic (ca. 177 Ma) Bokan Mountain granitic complex, located on southern Prince of Wales Island, southernmost Alaska, cross-cuts Paleozoic igneous and metasedimentary rocks of the Alexander terrane of the North American Cordillera and was emplaced during a rifting event. The complex is a circular body (~3 km in diameter) of peralkaline granitic composition that has a core of arfvedsonite granite surrounded by aegirine granite. All the rock-forming minerals typically record a two-stage growth history and aegirine and arfvedsonite were the last major phases to crystalize from the magma. The Bokan granites and related dikes have SiO2 from 72 to 78 wt. %, high iron (FeO (tot) ~3-4.5 wt. %) and alkali (8-10 wt.%) concentrations with high FeO(tot)/(FeO(tot)+MgO) ratios (typically >0.95) and the molar Al2O3/(Na2O+K2O) ratio Nd values which are indicative of a mantle signature. The parent magma is inferred to be derived from an earlier metasomatized lithospheric mantle by low degrees of partial melting and generated the Bokan granitic melt through extensive fractional crystallization. The Bokan complex hosts significant rare-metal (REE, Y, U, Th, Nb) mineralization that is related to the late-stage crystallization history of the complex which involved the overlap of emplacement of felsic dikes, including pegmatite bodies, and generation of orthomagmatic fluids. The abundances of REE, HFSE, U and Th as well as Pb and Nd isotopic values of the pluton and dikes were modified by orthomagmatic hydrothermal fluids highly enriched in the strongly incompatible trace elements, which also escaped along zones of structural weakness to generate rare-metal mineralization. The latter was deposited in two stages: the first relates to the latest stage of magma emplacement and is associated with felsic dikes that intruded along the faults and shear deformations, whereas the second stage involved ingress of hydrothermal fluids that both remobilized and enriched the initial

  7. Photoacoustic spectroscopy study on the co-luminescence phenomena of solid rare earth complexes

    SciTech Connect

    Yang Yuetao . E-mail: yyang@nju.edu.cn; Zhang Shuyi; Su Qingde

    2005-06-15

    Photoacoustic (PA) spectra of coprecipitates Tb{sup 3+}-Ln{sup 3+}-Sal complexes are reported (Sal: salicylic acid; Ln{sup 3+}:Gd{sup 3+} or Nd{sup 3+}). For Tb{sup 3+}-Gd{sup 3+}-Sal coprecipitates, the PA intensity in the region of ligand absorption decreases firstly with increasing the concentration of Gd{sup 3+}, and then increases. For Tb{sup 3+}-Nd{sup 3+}-Sal coprecipitates, the PA intensity of the ligand increases remarkably. The difference in PA intensities is interpreted in terms of probability of nonradiative transitions. The changes of luminescence spectra turn out to be complementary to the PA spectra. Combined with PA phase shifts, which are directly related to the relaxation processes, the luminescence enhancement and quenching phenomena of the coprecipitates are discussed by two aspects: radiative and nonradiative processes.

  8. Infra-red spectroscopic characteristics of naphthalocyanine in bis(naphthalocyaninato) rare earth complexes peripherally substituted with thiophenyl derivatives.

    PubMed

    Li, Xiaobo; Mao, Yajun; Xiao, Chi; Lu, Fanli

    2015-04-01

    The infra-red (IR) spectroscopic data for a series of eleven rare earth double-deckers MIII[Nc(SPh)8]2 (M=Y, Ce, Pr, Nd, Sm, Eu, Gd, Tb, Dy, Ho and Er) have been collected and systematically investigated. For MIII[Nc(SPh)8]2, typical IR marker bands for the naphthalocyanine anion radical [Nc(SPh)8].- were observed at 1317-1325 cm(-1) as the most intense absorption bands, which can be attributed to the pyrrole stretching. As for Ce[Nc(SPh)8]2, the typical IR marker band was also observed at 1317 cm(-1), which shows that the cerium complex exists as the form of CeIII[Nc(SPh)8]2-[Nc(SPh)8].-. In addition, both the Q-bands of electronic absorption spectra and the typical IR absorption bands of naphthalocyanine radical anion [Nc(SPh)8].- move to the high energy as the decrease of rare earth metal ionic radius. These facts suggest that the π-π electron interaction in these double-deckers becomes stronger along with the lanthanide contraction.

  9. A family of Ru(II) complexes built on a novel sexipyridine building block: synthesis, photophysical properties and the rare structural characterization of a triruthenium species.

    PubMed

    Laramée-Milette, Baptiste; Lussier, Félix; Ciofini, Ilaria; Hanan, Garry S

    2015-07-01

    A new tris-2'',4'',6''-(2,2'-bipyridin-4-yl)-1'',3'',5''-triazine ligand and its family of ruthenium coordination complexes are described along with their characterization by electrochemical and photophysical methods as well as a rare single crystal X-ray analysis of a triruthenium polypyridine complex. PMID:26037408

  10. [Major histocompatibility complex (MHC) in mammals' and its importance for studies of rare species (with Felidae family as an example)].

    PubMed

    Tarasian, K K; Sorokin, P A; Kholodova, M V; Rozhnov, V V

    2014-01-01

    Major histocompatibility complex (MHC) appears to be a suitable tool for solving various tasks of popu- lationgenetics. Information on genetic basis of immunity facilitates understanding of evolutionary his- tory and assessment of current state and prospects of studied population/species survival. On the one hand, MHC variability is maintained through pathogen dependent mechanisms, i.e., directional selection of individuals resistant to diseases, that are present in the environment and balancing selection which gives advantage to those individuals carrying unusual or rare alleles of MHC genes. On the other hand, MHC genes have an influence on reproduction efficiency of individuals. Because of MHC polygeny, its studying requires an application of methods that introduce additional stages between amplification of a certain gene segment and its sequencing. In the article, different tech- niques of allele separation are considered, as well as a simplified version of MHC variability analysis based on the examination of microsatellite loci. Despite the high information value of MHC, it is still not used in zoological studies as often as it deserves. Using as an example predatory mammals of Felidae family which contains quite a few threatened species, we show that a majority of studies on MHC in wild cats is descriptive ones and only few of them deal with genes comparative analysis. The rise of interest to the studies of major histocompatibility complex in non-model species may help not only in solving the fundamental problems of evolution and phylogenetic structure of the family but also in planning the measures for conservation of rare and endangered species exposed to various anthropogenic stresses. PMID:25786311

  11. Microwave and ab initio studies of rare gas-methane van der Waals complexes

    NASA Astrophysics Data System (ADS)

    Liu, Yaqian; Jäger, Wolfgang

    2004-05-01

    Rotational spectra of the weakly bound Kr-methane van der Waals complex were recorded using a pulsed molecular beam Fourier transform microwave spectrometer in the range from 3.5 to 18 GHz. Spectra of 25 isotopomers of Kr-methane were assigned and analyzed. For isotopomers containing CH4, 13CH4, and CD4, two sets of transitions with K=0 and one with K=1 were recorded, correlating to the j=0, 1, and 2 rotational levels of free methane, respectively (j is the rotational angular momentum quantum number of the methane monomer). For isotopomers containing CH3D and CHD3, two K=0 components were recorded, correlating to the jk=00 and 11 rotational levels of free methane (k corresponds to the projection of j onto the C3 axis of CH3D and CHD3). The obtained spectroscopic results were used to derive van der Waals bond distance R, van der Waals stretching frequency νs, and the corresponding stretching force constant ks. Nuclear spin statistical weights of individual states were obtained from molecular symmetry group analyses and were compared with the observed relative transition intensities. The tentatively assigned j=2 transitions were more intense than predicted from symmetry considerations. This is attributed to a relatively large effective dipole moment of this state, supported by ab initio dipole moment calculations. Ab initio potential energy calculations of Kr-CH4 and Ar-CH4 were done at the coupled cluster level of theory, with single and double excitations and perturbative inclusion of triple excitations, using the aug-cc-pVTZ basis set supplemented with bond functions. The theoretical results show that the angular dynamics of the dimer does not change significantly when the binding partner of methane changes from Ar to Kr. The dipole moment of Ar-CH4 was calculated at various configurations, providing a qualitative explanation for the unsuccessful spectral searches for rotational transitions of Ar-CH4.

  12. The Early Jurassic Bokan Mountain peralkaline granitic complex (southeastern Alaska): Geochemistry, petrogenesis and rare-metal mineralization

    NASA Astrophysics Data System (ADS)

    Dostal, Jaroslav; Kontak, Daniel J.; Karl, Susan M.

    2014-08-01

    The Early Jurassic (ca. 177 Ma) Bokan Mountain granitic complex, located on southern Prince of Wales Island, southernmost Alaska, cross-cuts Paleozoic igneous and metasedimentary rocks of the Alexander terrane of the North American Cordillera and was emplaced during a rifting event. The complex is a circular body (~ 3 km in diameter) of peralkaline granitic composition that has a core of arfvedsonite granite surrounded by aegirine granite. All the rock-forming minerals typically record a two-stage growth history and aegirine and arfvedsonite were the last major phases to crystallize from the magma. The Bokan granites and related dikes have SiO2 from 72 to 78 wt.%, high iron (FeO (tot) ~ 3-4.5 wt.%) and alkali (8-10 wt.%) concentrations with high FeO(tot)/(FeO(tot) + MgO) ratios (typically > 0.95) and the molar Al2O3/(Na2O + K2O) ratio < 1. The granitic rocks are characterized by elevated contents of rare earth elements (REE), Th, U and high field strength elements (HFSE) and low contents of Ca, Sr, Ba and Eu, typical of peralkaline granites. The granites have high positive εNd values which are indicative of a mantle signature. The parent magma is inferred to be derived from an earlier metasomatized lithospheric mantle by low degrees of partial melting and generated the Bokan granitic melt through extensive fractional crystallization. The Bokan complex hosts significant rare-metal (REE, Y, U, Th, Nb) mineralization that is related to the late-stage crystallization history of the complex which involved the overlap of emplacement of felsic dikes, including pegmatite bodies, and generation of orthomagmatic fluids. The abundances of REE, HFSE, U and Th as well as Pb and Nd isotopic values of the pluton and dikes were modified by orthomagmatic hydrothermal fluids highly enriched in the strongly incompatible trace elements, which also escaped along zones of structural weakness to generate rare-metal mineralization. The latter was deposited in two stages: the first

  13. Microwave and ab initio studies of rare gas-methane van der Waals complexes.

    PubMed

    Liu, Yaqian; Jäger, Wolfgang

    2004-05-15

    Rotational spectra of the weakly bound Kr-methane van der Waals complex were recorded using a pulsed molecular beam Fourier transform microwave spectrometer in the range from 3.5 to 18 GHz. Spectra of 25 isotopomers of Kr-methane were assigned and analyzed. For isotopomers containing CH4, 13CH4, and CD4, two sets of transitions with K = 0 and one with K = 1 were recorded, correlating to the j = 0, 1, and 2 rotational levels of free methane, respectively (j is the rotational angular momentum quantum number of the methane monomer). For isotopomers containing CH3D and CHD3, two K = 0 components were recorded, correlating to the j(k) = 0(0) and 1(1) rotational levels of free methane (k corresponds to the projection of j onto the C3 axis of CH3D and CHD3). The obtained spectroscopic results were used to derive van der Waals bond distance R, van der Waals stretching frequency nu(s), and the corresponding stretching force constant k(s). Nuclear spin statistical weights of individual states were obtained from molecular symmetry group analyses and were compared with the observed relative transition intensities. The tentatively assigned j = 2 transitions were more intense than predicted from symmetry considerations. This is attributed to a relatively large effective dipole moment of this state, supported by ab initio dipole moment calculations. Ab initio potential energy calculations of Kr-CH4 and Ar-CH4 were done at the coupled cluster level of theory, with single and double excitations and perturbative inclusion of triple excitations, using the aug-cc-pVTZ basis set supplemented with bond functions. The theoretical results show that the angular dynamics of the dimer does not change significantly when the binding partner of methane changes from Ar to Kr. The dipole moment of Ar-CH4 was calculated at various configurations, providing a qualitative explanation for the unsuccessful spectral searches for rotational transitions of Ar-CH4.

  14. Investigation of organic magnetoresistance dependence on spin-orbit coupling using 8-hydroxyquinolinate rare-earth based complexes

    NASA Astrophysics Data System (ADS)

    Carvalho, R. S.; Costa, D. G.; Ávila, H. C.; Paolini, T. B.; Brito, H. F.; Capaz, Rodrigo B.; Cremona, M.

    2016-05-01

    The recently discovered organic magnetoresistance effect (OMAR) reveals the spin-dependent behavior of the charge transport in organic semiconductors. So far, it is known that hyperfine interactions play an important role in this phenomenon and also that spin-orbit coupling is negligible for light-atom based compounds. However, in the presence of heavy atoms, spin-orbit interactions should play an important role in OMAR. It is known that these interactions are responsible for singlet and triplet states mixing via intersystem crossing and the change of spin-charge relaxation time in the charge mobility process. In this work, we report a dramatic change in the OMAR effect caused by the presence of strong intramolecular spin-orbit coupling in a series of rare-earth quinolate organic complex-based devices. Our data show a different OMAR lineshape compared with the OMAR lineshape of tris(8-hydroxyquinolinate) aluminum-based devices, which are well described in the literature. In addition, electronic structure calculations based on density functional theory help to establish the connection between this results and the presence of heavy central ions in the different complexes.

  15. Air- and water-tolerant rare earth guanidinium BINOLate complexes as practical precatalysts in multifunctional asymmetric catalysis.

    PubMed

    Robinson, Jerome R; Fan, Xinyuan; Yadav, Jagjit; Carroll, Patrick J; Wooten, Alfred J; Pericàs, Miquel A; Schelter, Eric J; Walsh, Patrick J

    2014-06-01

    Shibasaki's REMB catalysts (REMB; RE = Sc, Y, La-Lu; M = Li, Na, K; B = 1,1'-bi-2-naphtholate; RE/M/B = 1/3/3) are among the most enantioselective asymmetric catalysts across a broad range of mechanistically diverse reactions. However, their widespread use has been hampered by the challenges associated with their synthesis and manipulation. We report here the self-assembly of novel hydrogen-bonded rare earth metal BINOLate complexes that serve as bench-stable precatalysts for Shibasaki's REMB catalysts. Incorporation of hydrogen-bonded guanidinium cations in the secondary coordination sphere leads to unique properties, most notably, improved stability toward moisture in solution and in the solid state. We have exploited these properties to develop straightforward, high-yielding, and scalable open-air syntheses that provide rapid access to crystalline, nonhygroscopic complexes from inexpensive hydrated RE starting materials. These compounds can be used as precatalysts for Shibasaki's REMB frameworks, where we have demonstrated that our system performs with comparable or improved levels of stereoselectivity in several mechanistically diverse reactions including Michael additions, aza-Michael additions, and direct Aldol reactions. PMID:24796452

  16. Evaluation of AA5052 alloy anode in alkaline electrolyte with organic rare-earth complex additives for aluminium-air batteries

    NASA Astrophysics Data System (ADS)

    Wang, Dapeng; Li, Heshun; Liu, Jie; Zhang, Daquan; Gao, Lixin; Tong, Lin

    2015-10-01

    Behaviours of the AA5052 aluminium alloy anode of the alkaline aluminium-air battery are studied by the hydrogen evolution test, the electrochemical measurements and the surface analysis method. The combination of amino-acid and rare earth as electrolyte additives effectively retards the self-corrosion of AA5052 aluminium alloy in 4 M NaOH solution. It shows that the combination of L-cysteine and cerium nitrate has a synergistic effect owing to the formation of a complex film on AA5052 alloy surface. The organic rare-earth complex can decrease the anodic polarisation, suppress the hydrogen evolution and increase the anodic utilization rate.

  17. Petrogenesis of orbicular ijolites from the Prairie Lake complex, Marathon, Ontario: Textural evidence from rare processes of carbonatitic magmatism

    NASA Astrophysics Data System (ADS)

    Zurevinski, Shannon E.; Mitchell, Roger H.

    2015-12-01

    A unique occurrence of orbicular ijolite is hosted in a matrix of contemporaneous holocrystalline ijolite at the 1.1 Ga Prairie Lake Carbonatite Complex (Marathon, Ontario, Canada), and is the only known occurrence of this textural type in a rock of ijolitic composition. This mineralogical and petrological study of this orbicular ijolite highlights many of the differences from other rare occurrences of orbicular rocks described from carbonatites, granites, diorites and lamprophyres. The orbicules occur along distinct, densely packed bands in equigranular nepheline-rich ijolite and range up to 6 cm in diameter. Macroscopically, the orbicules show variability in the mineralogy of their cores. Detailed imaging of the cores shows evidence of quench textures. Radial outward zoning is common near the cores with concentric banding occurring toward the margins of the orbicules. The mineralogy of the orbicules consists of: nepheline; diopside; calcite; apatite; andradite-melanite garnet; titanite; Fe-rich phlogopite; titaniferous magnetite; perovskite; with secondary natrolite, calcite and cancrinite. The mineralogy of the host ijolite is similar to that of the orbicules. Mineral compositions from the orbicular ijolite and the host ijolite are similar. Within the orbicules, anhedral minerals are found occurring in a 'matrix' of garnet throughout the distinct concentric bands. The textures within the concentric bands of the orbicules are best described as annealing recrystallization textures. The rims of the orbicules form interlocking crystals with the host ijolite resulting in near-indistinguishable boundaries. The orbicules are interpreted to represent interaction of a partially-crystallized quenched ijolitic melt, which was in contact with a second pulse of consanguineous ijolite magma. Immersion in the latter resulted in sub-solidus diffusion and annealing recrystallization. Orbicular textures were produced from previously formed quenched ijolite, which was

  18. Influence of inner-sphere processes on the paramagnetic shifts in the {sup 1}H NMR spectra of some mixed-ligand complexes of rare-earth elements

    SciTech Connect

    Khachatryan, A.S.; Vashchuk, A.V.; Panyushkin, V.T.

    1995-12-20

    Concentration dependences of the observed chemical shifts in the NMR spectra of 1:1:1 and 1:2:1 mixed-ligand complexes of rare-earth elements with acetylacetone and acrylic, methacrylic, maleic, and fumaric acids were analyzed. The complexes undergo inner-sphere structural transformations involving different modes of coordination of the unsaturated acid, which is capable of coordination to the central ion through both the carboxylic group and {pi} electrons of the double bond. The possibility of determining equilibrium constants and limiting chemical shifts of the isomeric forms of the complexes was demonstrated. 9 refs., 4 figs.

  19. Systematic Structural Elucidation for the Protonated Form of Rare Earth Bis(porphyrinato) Double-Decker Complexes: Direct Structural Evidence of the Location of the Attached Proton.

    PubMed

    Yamashita, Ken-Ichi; Sakata, Naoya; Ogawa, Takuji

    2016-09-01

    Direct structural evidence of the presence and location of the attached proton in the protonated form of rare earth bis(porphyrinato) double-decker complexes is obtained from an X-ray diffraction study of single crystals for a series of protonated forms of bis(tetraphenylporphyrinato) complexes [M(III)(tpp)(tppH)] (M = Tb, Y, Sm, Nd, and La). When CHCl3 is used as a solvent for crystallization of the complexes, their nondisordered molecular structures are obtained and the attached proton is identified on one of the eight nitrogen atoms. Use of other solvents affords another type of crystal, in which the position of the proton is disordered and thus the molecular structure is averaged. La complex also affords the disordered average structure even when CHCl3 is used for crystallization. A variable-temperature diffraction study for the Tb complex reveals that the dynamics of the proton in the nondisordered crystal is restricted. PMID:27541189

  20. Systematic Structural Elucidation for the Protonated Form of Rare Earth Bis(porphyrinato) Double-Decker Complexes: Direct Structural Evidence of the Location of the Attached Proton.

    PubMed

    Yamashita, Ken-Ichi; Sakata, Naoya; Ogawa, Takuji

    2016-09-01

    Direct structural evidence of the presence and location of the attached proton in the protonated form of rare earth bis(porphyrinato) double-decker complexes is obtained from an X-ray diffraction study of single crystals for a series of protonated forms of bis(tetraphenylporphyrinato) complexes [M(III)(tpp)(tppH)] (M = Tb, Y, Sm, Nd, and La). When CHCl3 is used as a solvent for crystallization of the complexes, their nondisordered molecular structures are obtained and the attached proton is identified on one of the eight nitrogen atoms. Use of other solvents affords another type of crystal, in which the position of the proton is disordered and thus the molecular structure is averaged. La complex also affords the disordered average structure even when CHCl3 is used for crystallization. A variable-temperature diffraction study for the Tb complex reveals that the dynamics of the proton in the nondisordered crystal is restricted.

  1. Rare earth complexes with a novel ligand N-(naphthalen-2-yl)- N-phenyl-2-(quinolin-8-yloxy)acetamide: Preparation and spectroscopic studies

    NASA Astrophysics Data System (ADS)

    Wu, Wei-Na; Tang, Ning; Yan, Lan

    2008-12-01

    Six complexes of rare earth nitrates (Ln = La, Sm, Eu, Gd, Tb, Dy) with a new amide type ligand, N-(naphthalen-2-yl)- N-phenyl-2-(quinolin-8-yloxy)acetamide (L) have been prepared and characterized by elemental analysis, conductivity measurements, IR and and 1H NMR spectra. Under excitation, Eu(III) and Sm(III) complexes exhibited strong red emissions. And the luminescence intensity of Sm(III) complex is higher than that of Eu(III) complex. Thus the Eu(III) and Sm(III) complexes are the potential light conversion agent. However, the Tb(III) and Dy(III) complexes cannot exhibit characteristic emissions of terbium and dysprosium ions, respectively. The results of phosphorescence spectrum show that the triplet-state energy level of the ligand matches better to the resonance level of Eu(III) than Tb(III) ion. In addition, the luminescence of the Eu(III) complex is also relatively strong in highly diluted tetrahydrofuran solution (2 × 10 -4 mol/L) compared with the powder. This is not only due to the solvate effects but also to the changes of the structure of the Eu(III) complex after being dissolved into the solvents. Furthermore, owing to the co-luminescence effect, the proper La(III) or Gd(III) doped Eu(III) complexes show stronger luminescence than the pure Eu(III) complex.

  2. Microevolution of the Chibcha-speaking peoples of lower Central America: rare genes in an Amerindian complex.

    PubMed Central

    Thompson, E A; Neel, J V; Smouse, P E; Barrantes, R

    1992-01-01

    Models are developed for the survival, history, and spread of variant alleles, in order to consider what can, and what cannot, be inferred from this type of data. The high variances of the processes involved, and questions of sampling, place severe limitations on inferences. Nonetheless, by combining information on a number of rare variants observed in a group of interrelated populations, reliable qualitative inferences are possible. These ideas and models are developed in the context of data on five rare variants and six private polymorphisms observed in eight Chibcha-speaking tribes of Costa Rica and Panama. The decline and fragmentation of the Amerindian populations of Central America over the last 300 years create considerable difficulties in attempting inference of past genetic events. However, these tribes have been well studied genetically, anthropologically, and linguistically and thus provide an excellent framework for the study of rare-variant spread. PMID:1496991

  3. The Role of Defect Complexes in the Magneto-Optical Properties of Rare Earth Doped Gallium Nitride

    NASA Astrophysics Data System (ADS)

    Mitchell, Brandon

    Wide band gap semiconductors doped with rare earth ions (RE) have shown great potential for applications in optoelectronics, photonics, and spintronics. The 1.54mum Erbium (Er) emission has been extensively utilized in optical fiber communications, and Europium (Eu) is commonly used as a red color component for LEDs and fluorescence lamps. For the realization of spintronic-type devices, a dilutely doped semiconductor that exhibits room temperature ferromagnetic behavior would be desirable. Such behavior has been observed in GaN:Er. Furthermore, it was demonstrated that strain may play an important role in the control of this ferromagnetism; however, this requires further investigation. One motivation of this work is the realization of an all solid state white light source monolithically integrated into III/V nitride semiconductor materials, ideally GaN. For this, the current AlGaAs-based LEDs need to be replaced. One approach for achieving efficient red emission from GaN is dilute doping with fluorescent ions. In this regard, Eu has consistently been the most promising candidate as a dopant in the active layer for a red, GaN based, LED due to the sharp 5D0 to 7F2 transitions that result in red emission around 620nm. The success of GaN:Eu as the active layer for a red LED is based on the ability for the Eu ions to be efficiently excited by electron hole pairs. Thus, the processes by which energy is transferred from the host to the Eu ions has been studied. Complications arise, however, from the fact that Eu ions incorporate into multiple center environments, the structures of which are found to have a profound influence on the excitation pathways and efficiencies of the Eu ion. Therefore the nature of Eu incorporation and the resulting luminescence efficiency in GaN has been extensively investigated. By performing a comparative study on GaN:Eu samples grown under a variety of controlled conditions and using a variety of experimental techniques, the majority site has

  4. Methylidene rare-earth-metal complex mediated transformations of C=N, N=N and N-H bonds: new routes to imido rare-earth-metal clusters.

    PubMed

    Hong, Jianquan; Zhang, Lixin; Wang, Kai; Zhang, Yin; Weng, Linhong; Zhou, Xigeng

    2013-06-10

    Three new patterns of reactivity of rare-earth metal methylidene complexes have been established and thus have resulted in access to a wide variety of imido rare-earth metal complexes [L3Ln3(μ2-Me)3(μ3-Me)(μ-NR)] (L = [PhC(NC6H3iPr2-2,6)2](-); R = Ph, Ln = Y (2 a), Lu (2 b); R = 2,6-Me2C6H3, Ln = Y (3 a), Lu (3 b); R = p-ClC6H4, Ln = Y (4 a), Lu (4 b); R = p-MeOC6H4, Ln = Y (5 a), Lu (5 b); R = Me2CHCH2CH2, Ln = Y (6 a), Lu (6 b)) and [{L3Lu3(μ2-Me)3(μ3-Me)}2(μ-NR'N)] (R' = (CH2)6 (7 b), (C6H4)2 (8 b)). Complex 2 b was treated with an excess of CO2 to give the corresponding carboxylate complex [L3Lu3(μ-η(1):η(1)-O2CCH3)3(μ-η(1):η(2)-O2C-CH3)(μ-η(1):η(1):η(2)-O2CNPh)] (9 b) easily. Complex 2 a could undergo the selective μ3-Me abstraction reaction with phenyl acetylene to give the mixed imido/alkynide complex [L3Y3(μ2-Me)3(μ3-η(1):η(1):η(3)-NPh)(μ3-C≡CPh)] (10 a) in high yield. Treatment of 2 with one equivalent of thiophenol gave the selective μ3-methyl-abstracted products [L3Ln3(μ2-Me)3(μ3-η(1):η(1):η(3)-NPh)(μ3-SPh)] (Ln = Y (11 a); Lu (11 b). All new complexes have been characterized by elemental analysis, NMR spectroscopy, and most of the structures confirmed by X-ray diffraction.

  5. Systematics of the 4f energies in a series of rare-earth organic complexes determined by resonant photoemission

    NASA Astrophysics Data System (ADS)

    Thompson, J.; Arima, V.; Zou, Y.; Fink, R.; Umbach, E.; Cingolani, R.; Blyth, R. I. R.

    2004-10-01

    We report a photoemission study of the systematics of the 4f electronic structure of a family of rare-earth organic compounds. Resonant photoemission has been used to determine the binding energies of the 4fN-1 ground states, relative to those of the ligand orbitals, of a number of rare-earth tris-8-hydroxyquinolines ( REQ3 ’s). Using an empirical model these results have been extrapolated to the full series (Ce-Lu) of REQ3 ’s. It is found that in all cases, with the possible exception of Ce, the energy of the 4fN-1 ground state is less than that of the highest occupied molecular orbital, and therefore individual holes on lanthanide sites will not be stable.

  6. Extensive complex odontoma in the maxillary sinus pushing 3rd molar near the orbital floor causing transient diplopia and chronic sinusitis: a rare presentation and surgical management.

    PubMed

    Gupta, Monika; Das, Debdutta

    2015-03-01

    Odontoma is a mixed odontogenic hamartoma involving both epithelial and mesenchymal tissues. If left untreated, it can lead to complications in certain conditions. Here is a rare presentation of an extensive complex odontoma in maxillary sinus pushing third molar near the orbital floor causing transient diplopia in upward gaze occasionally and chronic sinusitis. Although odontomata are not uncommon and are familiar to practitioners, but some aggressive cases may cause problematic sequelae. Even postoperative complications may result if oral surgeons are not aware of the potential pitfalls associated with the surgical removal of large maxillary antrum odontomata. This article reports a rare presentation which can be considered unique because when obstruction of sinus drainage is evident, serious complications such as orbital infections, epidural and subdural empyema, meningitis, cerebritis, cavernous sinus thrombosis, brain abscess and death can occur. It also addresses points and pitfalls concerning surgery to remove odontoma. PMID:25848139

  7. Extensive complex odontoma in the maxillary sinus pushing 3rd molar near the orbital floor causing transient diplopia and chronic sinusitis: a rare presentation and surgical management.

    PubMed

    Gupta, Monika; Das, Debdutta

    2015-03-01

    Odontoma is a mixed odontogenic hamartoma involving both epithelial and mesenchymal tissues. If left untreated, it can lead to complications in certain conditions. Here is a rare presentation of an extensive complex odontoma in maxillary sinus pushing third molar near the orbital floor causing transient diplopia in upward gaze occasionally and chronic sinusitis. Although odontomata are not uncommon and are familiar to practitioners, but some aggressive cases may cause problematic sequelae. Even postoperative complications may result if oral surgeons are not aware of the potential pitfalls associated with the surgical removal of large maxillary antrum odontomata. This article reports a rare presentation which can be considered unique because when obstruction of sinus drainage is evident, serious complications such as orbital infections, epidural and subdural empyema, meningitis, cerebritis, cavernous sinus thrombosis, brain abscess and death can occur. It also addresses points and pitfalls concerning surgery to remove odontoma.

  8. Controlled synthesis of racemic indenyl rare-earth metal complexes via the cooperation between the intramolecular coordination of donor atoms and a bridge.

    PubMed

    Zhou, Shuangliu; Wu, Zhangshuan; Zhou, Lingmin; Wang, Shaowu; Zhang, Lijun; Zhu, Xiancui; Wei, Yun; Zhai, Jinhua; Wu, Jie

    2013-06-01

    The reactions of Me2Si(C9H6CH2CH2-DG)2 (DG = NMe2 (1), CH2NMe2 (2), OMe (3), and N(CH2CH2)2O (4)) with [(Me3Si)2N]3RE(μ-Cl)Li(THF)3 in toluene afforded a series of racemic divalent rare-earth metal complexes: {η(5):η(1):η(5):η(1)-Me2Si(C9H5CH2CH2-DG)2}RE (DG = NMe2, RE = Yb (6) and Eu (7); DG = CH2NMe2, RE = Yb (8), Eu (9), and Sm (10); DG = OMe, RE = Yb (11) and Eu (12); DG = N(CH2CH2)2O, RE = Yb (13) and Eu (14)). Similarly, the racemic divalent rare-earth metal complexes {η(5):η(1):η(5):η(1)-Me2Si(C9H5CH2CH2CH2NMe2)(C9H5CH2CH2OMe)}RE (RE = Yb (15) and Eu (16)) were also obtained. The reaction of Me2Si(C9H5CH2CH2OMe)2Li2 with NdCl3 gave a racemic dimeric neodymium chloride {η(5):η(1):η(5)-Me2Si(C9H5CH2CH2OMe)2NdCl}2 (17), whereas the reaction of Me2Si(C9H5CH2CH2NMe2)2Li2 with SmCl3 afforded a racemic dinuclear samarium chloride bridged by lithium chloride {η(5):η(1):η(5):η(1)-Me2Si(C9H5CH2CH2NMe2)2SmCl}2(μ-LiCl) (18). Further reaction of complex 18 with LiCH2SiMe3 provided an unexpected rare-earth metal alkyl complex {η(5):η(1):η(5):η(1):σ-Me2Si(C9H5CH2CH2NMe2)[(C9H5CH2CH2N(CH2)Me]}Sm (19) through the activation of an sp(3) C-H bond α-adjacent to the nitrogen atom. Complexes 19 and {η(5):η(1):η(5):η(1):σ-Me2Si(C9H5CH2CH2NMe2)[(C9H5CH2CH2N(CH2)Me]}Y (20) were also obtained by one-pot reactions of Me2Si(C9H5CH2CH2NMe2)2Li2 with RECl3 followed by treatment with LiCH2SiMe3. All compounds were fully characterized by spectroscopic methods and elemental analysis. Complexes 6-10 and 14-20 were further characterized by single-crystal X-ray diffraction analysis. All of the prepared rare-earth metal complexes were racemic, suggesting that racemic organo rare-earth metal complexes could be controllably synthesized by the cooperation between a bridge and the intramolecular coordination of donor atoms.

  9. Rare 'head-to-tail' arrangement of guest molecules in the inclusion complexes of (+)- and (-)-menthol with β-cyclodextrin

    NASA Astrophysics Data System (ADS)

    Ceborska, Magdalena; Asztemborska, Monika; Lipkowski, Janusz

    2012-11-01

    The inclusion of (+)- and (-)-menthols in β-cyclodextrin has been studied by X-ray crystallography. The obtained [2:2] complexes show typical for β-cyclodextrin form of head-to-head dimer. In both (+)- and (-)-cases, the menthol molecule in one of cyclodextrins forming dimer exhibits disorder and occupies two major sites. Also both of the diastereoisomeric complexes show unusual 'head to tail' arrangement of guest molecules - two guest molecules are differently oriented inside β-cyclodextrin cavity. Stability constants for both complexes in solution were measured.

  10. Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.

    PubMed

    Yang, Li; Neale, Benjamin M; Liu, Lu; Lee, S Hong; Wray, Naomi R; Ji, Ning; Li, Haimei; Qian, Qiujin; Wang, Dongliang; Li, Jun; Faraone, Stephen V; Wang, Yufeng; Doyle, Alysa E; Reif, Andreas; Rothenberger, Aribert; Franke, Barbara; Sonuga-Barke, Edmund J S; Steinhausen, Hans-Christoph; Buitelaar, Jan K; Kuntsi, Jonna; Biederman, Joseph; Lesch, Klaus-Peter; Kent, Lindsey; Asherson, Philip; Oades, Robert D; Loo, Sandra K; Nelson, Stan F; Faraone, Stephen V; Smalley, Susan L; Banaschewski, Tobias; Arias Vasquez, Alejandro; Todorov, Alexandre; Charach, Alice; Miranda, Ana; Warnke, Andreas; Thapar, Anita; Neale, Benjamin M; Cormand, Bru; Freitag, Christine; Mick, Eric; Mulas, Fernando; Middleton, Frank; HakonarsonHakonarson, Hakon; Palmason, Haukur; Schäfer, Helmut; Roeyers, Herbert; McGough, James J; Romanos, Jasmin; Crosbie, Jennifer; Meyer, Jobst; Ramos-Quiroga, Josep Antoni; Sergeant, Joseph; Elia, Josephine; Langely, Kate; Nisenbaum, Laura; Romanos, Marcel; Daly, Mark J; Ribasés, Marta; Gill, Michael; O'Donovan, Michael; Owen, Michael; Casas, Miguel; Bayés, Mònica; Lambregts-Rommelse, Nanda; Williams, Nigel; Holmans, Peter; Anney, Richard J L; Ebstein, Richard P; Schachar, Russell; Medland, Sarah E; Ripke, Stephan; Walitza, Susanne; Nguyen, Thuy Trang; Renner, Tobias J; Hu, Xiaolan

    2013-07-01

    Attention-deficit hyperactivity disorder (ADHD) is a complex polygenic disorder. This study aimed to discover common and rare DNA variants associated with ADHD in a large homogeneous Han Chinese ADHD case-control sample. The sample comprised 1,040 cases and 963 controls. All cases met DSM-IV ADHD diagnostic criteria. We used the Affymetrix6.0 array to assay both single nucleotide polymorphisms (SNPs) and copy number variants (CNVs). Genome-wide association analyses were performed using PLINK. SNP-heritability and SNP-genetic correlations with ADHD in Caucasians were estimated with genome-wide complex trait analysis (GCTA). Pathway analyses were performed using the Interval enRICHment Test (INRICH), the Disease Association Protein-Protein Link Evaluator (DAPPLE), and the Genomic Regions Enrichment of Annotations Tool (GREAT). We did not find genome-wide significance for single SNPs but did find an increased burden of large, rare CNVs in the ADHD sample (P = 0.038). SNP-heritability was estimated to be 0.42 (standard error, 0.13, P = 0.0017) and the SNP-genetic correlation with European Ancestry ADHD samples was 0.39 (SE 0.15, P = 0.0072). The INRICH, DAPPLE, and GREAT analyses implicated several gene ontology cellular components, including neuron projections and synaptic components, which are consistent with a neurodevelopmental pathophysiology for ADHD. This study suggested the genetic architecture of ADHD comprises both common and rare variants. Some common causal variants are likely to be shared between Han Chinese and Caucasians. Complex neurodevelopmental networks may underlie ADHD's etiology.

  11. Most of rare missense alleles in humans are deleterious:implications for evolution of complex disease and associationstudies

    SciTech Connect

    Kryukov, Gregory V.; Pennacchio, Len A.; Sunyaev, Shamil R.

    2006-10-24

    The accumulation of mildly deleterious missense mutations inindividual human genomes has been proposed to be a genetic basis forcomplex diseases. The plausibility of this hypothesis depends onquantitative estimates of the prevalence of mildly deleterious de novomutations and polymorphic variants in humans and on the intensity ofselective pressure against them. We combined analysis of mutationscausing human Mendelian diseases, human-chimpanzee divergence andsystematic data on human SNPs and found that about 20 percent of newmissense mutations in humans result in a loss of function, while about 27percent are effectively neutral. Thus, more than half of new missensemutations have mildly deleterious effects. These mutations give rise tomany low frequency deleterious allelic variants in the human populationas evident from a new dataset of 37 genes sequenced in over 1,500individual human chromosomes. Surprisingly, up to 70 percent of lowfrequency missense alleles are mildly deleterious and associated with aheterozygous fitness loss in the range 0.001-0.003. Thus, the low allelefrequency of an amino acid variant can by itself serve as a predictor ofits functional significance. Several recent studies have reported asignificant excess of rare missense variants in disease populationscompared to controls in candidate genes or pathways. These studies wouldbe unlikely to work if most rare variants were neutral or if rarevariants were not a significant contributor to the genetic component ofphenotypic inheritance. Our results provide a justification for thesetypes of candidate gene (pathway) association studies and imply thatmutation-selection balance may be a feasible mechanism for evolution ofsome common diseases.

  12. Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.

    PubMed

    Malaspina, P; Roullet, J-B; Pearl, P L; Ainslie, G R; Vogel, K R; Gibson, K M

    2016-10-01

    Discovered some 35 years ago, succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a rare, autosomal recessively-inherited defect in the second step of the GABA degradative pathway. Some 200 patients have been reported, with broad phenotypic and genotypic heterogeneity. SSADHD represents an unusual neurometabolic disorder in which two neuromodulatory agents, GABA (and the GABA analogue, 4-hydroxybutyrate), accumulate to supraphysiological levels. The unexpected occurrence of epilepsy in several patients is counterintuitive in view of the hyperGABAergic state, in which sedation might be expected. However, the epileptic status of some patients is most likely represented by broader imbalances of GABAergic and glutamatergic neurotransmission. Cumulative research encompassing decades of basic and clinical study of SSADHD reveal a monogenic disease with broad pathophysiological and clinical phenotypes. Numerous metabolic perturbations unmasked in SSADHD include alterations in oxidative stress parameters, dysregulation of autophagy and mitophagy, dysregulation of both inhibitory and excitatory neurotransmitters and gene expression, and unique subsets of SNP alterations of the SSADH gene (so-called ALDH5A1, or aldehyde dehydrogenase 5A1 gene) on the 6p22 chromosomal arm. While seemingly difficult to collate and interpret, these anomalies have continued to open novel pathways for pharmacotherapeutic considerations. Here, we present an update on selected aspects of SSADHD, the ALDH5A1 gene, and future avenues for research on this rare disorder of GABA metabolism. PMID:27311541

  13. Mixed-ligand complex compounds of rare-earth elements (REE) with acetylacetone and fumaric or maleic acid

    SciTech Connect

    Panyushkin, V.T.; Akhrimenko, N.V.

    1994-10-01

    Previously the authors investigated the possibility of synthesis of the f-block element mixed complexes with {beta}-diketones and organic unsaturated acids. The mixed-ligand complexes of lanthanides [Ln = Nd(III), Sm(III), Eu(III), Tb(III), Dy(III), Ho(III), and Yb(III)] with acetylacetone (acac) and fumaric or maleic acid (AcidH{sub 2}) were synthesized. The mixed-ligand complexes were prepared by the interaction of REE tris(acetylacetonates) [Ln(acac){sub 3}{center_dot} 3H{sub 2}O] with half as much excess of the organic acid in a solution of diethyl ether. According to the data of elemental analysis and thermogravimetric and spectroscopic investigations, the mixed complexes studied are of composition Ln(acac){sub 2}(AcidH){center_dot}H{sub 2}O.

  14. Dehydrogenation of secondary amines: synthesis, and characterization of rare-earth metal complexes incorporating imino- or amido-functionalized pyrrolyl ligands.

    PubMed

    Li, Qinghai; Zhou, Shuangliu; Wang, Shaowu; Zhu, Xiancui; Zhang, Lijun; Feng, Zhijun; Guo, Liping; Wang, Fenhua; Wei, Yun

    2013-02-28

    The dehydrogenation of pyrrolyl-functionalized secondary amines initiated by rare-earth metal amides was systematically studied. Reactions of the rare-earth metal amides [(Me(3)Si)(2)N](3)RE(μ-Cl)Li(THF)(3) with pyrrolyl-functionalized secondary amines 2-(t)BuNHCH(2)-5-R-C(4)H(2)NH (R = H (1), R = (t)Bu (2)) led to dehydrogenation of the secondary amines with isolation of imino-functionalized pyrrolyl rare-earth metal complexes [2-(t)BuN=CH-5-R-C(4)H(2)N](2)REN(SiMe(3))(2) (R = H, RE = Y (3a), Dy (3b), Yb (3c), Eu (3d); R = (t)Bu, RE = Y (4a), Dy (4b), Er (4c)). The mixed ligands erbium complex [2-(t)BuNCH(2)-5-(t)Bu-C(4)H(2)N]Er[2-(t)BuN=CH-5-(t)BuC(4)H(2)N](2)ClLi(2)(THF) (4c') was isolated in a short reaction time for the synthesis of complex 4c. Reaction of the deuterated pyrrolyl-functionalized secondary amine 2-((t)BuNHCHD)C(4)H(3)NH with yttrium amide [(Me(3)Si)(2)N](3)Y(μ-Cl)Li(THF)(3) further proved that pyrrolyl-amino ligands were transferred to pyrrolyl-imino ligands. Treatment of 2-((t)BuNHCH(2))C(4)H(3)NH (1) with excess (Me(3)Si)(2)NLi gave the only pyrrole deprotonated product {[η(5):η(2):η(1)-2-((t)BuNHCH(2))C(4)H(3)N]Li(2)N(SiMe(3))(2)}(2) (5), indicating that LiN(SiMe(3))(2) could not dehydrogenate the secondary amines to imines and rare-earth metal ions had a decisive effect on the dehydrogenation. The reaction of the rare-earth metal amides [(Me(3)Si)(2)N](3)RE(μ-Cl)Li(THF)(3) with 1 equiv. of more bulky pyrrolyl-functionalized secondary amine 2-[(2,6-(i)Pr(2)C(6)H(3))NHCH(2)](C(4)H(3)NH) (6) in toluene afforded the only amine and pyrrole deprotonated dinuclear rare-earth metal amido complexes {(μ-η(5):η(1)):η(1)-2-[(2,6-(i)Pr(2)C(6)H(3))NCH(2)]C(4)H(3)N]LnN(SiMe(3))(2)}(2) (RE = Nd (7a), Sm (7b), Er (7c)), no dehydrogenation of secondary amine to imine products were observed. On the basis of experimental results, a plausible mechanism for the dehydrogenation of secondary amines to imines was proposed.

  15. Enrichment of Rare Earth Elements during magmatic and post-magmatic processes: a case study from the Loch Loyal Syenite Complex, northern Scotland

    NASA Astrophysics Data System (ADS)

    Walters, A. S.; Goodenough, K. M.; Hughes, H. S. R.; Roberts, N. M. W.; Gunn, A. G.; Rushton, J.; Lacinska, A.

    2013-10-01

    Concern about security of supply of critical elements used in new technologies, such as the Rare Earth Elements (REE), means that it is increasingly important to understand the processes by which they are enriched in crustal settings. High REE contents are found in syenite-dominated alkaline complexes intruded along the Moine Thrust Zone, a major collisional zone in north-west Scotland. The most northerly of these is the Loch Loyal Syenite Complex, which comprises three separate intrusions. One of these, the Cnoc nan Cuilean intrusion, contains two mappable zones: a Mixed Syenite Zone in which mafic melasyenite is mixed and mingled with leucosyenite and a Massive Leucosyenite Zone. Within the Mixed Syenite Zone, hydrothermal activity is evident in the form of narrow altered veins dominated by biotite and magnetite; these are poorly exposed and their lateral extent is uncertain. The REE mineral allanite is relatively abundant in the melasyenite and is extremely enriched in the biotite-magnetite veins, which have up to 2 % total rare earth oxides in bulk rock analyses. An overall model for development of this intrusion can be divided into three episodes: (1) generation of a Light Rare Earth Element (LREE)-enriched parental magma due to enrichment of the mantle source by subduction of pelagic carbonates; (2) early crystallisation of allanite in melasyenite, due to the saturation of the magma in the LREE; and (3) hydrothermal alteration, in three different episodes identified by petrography and mineral chemistry, generating the intense enrichment of REE in the biotite-magnetite veins. Dating of allanite and titanite in the biotite-magnetite veins gives ages of c. 426 Ma, overlapping with previously published crystallisation ages for zircon in the syenite.

  16. Extraction Separation of Rare-Earth Ions via Competitive Ligand Complexations between Aqueous and Ionic-Liquid Phases

    SciTech Connect

    Luo, Huimin; Sun, Xiaoqi; Bell, Jason R; Dai, Sheng

    2011-01-01

    The extraction separation of rare earth elements is the most challenging separation processes in hydrometallurgy and advanced nuclear fuel cycles. The TALSPEAK process (Trivalent Actinide Lanthanide Separations by Phosphorus-reagent Extraction from Aqueous Komplexes) is a prime example of these separation processes. The objective of this paper is to explore the use of ionic liquids (ILs) for the TALSPEAK-like process, to further enhance its extraction efficiencies for lanthanides, and to investigate the potential of using this modified TALSPEAK process for separation of lanthanides among themselves. Eight imidazolium ILs ([Cnmim][NTf2] and [Cnmim][BETI], n=4,6,8,10) and one pyrrolidinium IL ([C4mPy][NTf2]) were investigated as diluents using di(2-ethylhexyl)phosphoric acid (HDEHP) as an extractant for separation of lanthanide ions from aqueous solutions of 50 mM glycolic acid or citric acid and 5 mM diethylenetriamine pentaacetic acid (DTPA). The extraction efficiencies were studied in comparison with diisopropylbenzene (DIPB), an organic solvent used as diluent for the conventional TALSPEAK extraction system. Excellent extraction efficiencies and selectivities were found for a number of lanthanide ions using HDEHP as an extractant in these ILs. The effects of different alkyl chain lengths in the cations of ILs and anions on extraction efficiencies and selectivities of lanthanide ions are also presented in this paper.

  17. [A rare occurrence of dicephalus, scoliosis and complex heart anomalies in a male black and white German Holstein calf].

    PubMed

    Buck, Bettina Constanze; Zoeller, Martina; Baumgärtner, Wolfgang; Distl, Ottmar

    2009-01-01

    In a dairy farm in Lower Saxony, a male black and white German Holstein calf showed two partially fused heads, scoliosis of the thoracal vertebral column and a high-graded dyspnoea. The animal was sired by a bull used in artificial insemination. Further affected calves were not known at this farm. The radiographic examination of the animal verified the diagnosis of a dicephalus. The pathological-anatomical examination revealed a complex malformation of the heart similar to the human Eisenmenger-complex. Several environmental causes like intoxication, rectal palpation for gestation diagnosis, infections by bovine virus diarrhoea or infectious bovine rhinotracheitis viruses could be ruled out by anamnesis and virological examinations. Thus, we supposed a hereditary background for this defect.

  18. Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome.

    PubMed

    Atwal, P S

    2014-01-01

    We report a patient with Leigh syndrome shown to have two previously undescribed truncating mutations in the TTC19 gene. Our patient is a 4-year-old boy with global developmental delay, language regression at 13 months, and brain MRI showing T2 high-signal lesions involving the putamen, caudate body, and the brainstem, which appear to be progressing. Molecular testing showed our patient is heterozygous for two previously undescribed mutations in the TTC19 gene, c.577G>A (p.Trp186Stop) and c.964_967delGGCT (p.Gly322MetfsX8), both of which are predicted to cause loss of protein function due to either protein truncation or nonsense-mediated mRNA decay. TTC19 encodes tetratricopeptide 19 (TTC19) and is thought to be a complex III (CIII) assembly factor that is embedded on the inner mitochondrial membrane as part of two high-molecular-weight complexes, one of which coincides with CIII. The initial presentations of previously described patients with TTC19 mutations are heterogeneous and can be from childhood to adulthood. In summary, TTC19 mutations have been shown to affect CIII complex function, which results in a heterogeneous clinical phenotype including Leigh syndrome. PMID:24368687

  19. Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome.

    PubMed

    Atwal, P S

    2014-01-01

    We report a patient with Leigh syndrome shown to have two previously undescribed truncating mutations in the TTC19 gene. Our patient is a 4-year-old boy with global developmental delay, language regression at 13 months, and brain MRI showing T2 high-signal lesions involving the putamen, caudate body, and the brainstem, which appear to be progressing. Molecular testing showed our patient is heterozygous for two previously undescribed mutations in the TTC19 gene, c.577G>A (p.Trp186Stop) and c.964_967delGGCT (p.Gly322MetfsX8), both of which are predicted to cause loss of protein function due to either protein truncation or nonsense-mediated mRNA decay. TTC19 encodes tetratricopeptide 19 (TTC19) and is thought to be a complex III (CIII) assembly factor that is embedded on the inner mitochondrial membrane as part of two high-molecular-weight complexes, one of which coincides with CIII. The initial presentations of previously described patients with TTC19 mutations are heterogeneous and can be from childhood to adulthood. In summary, TTC19 mutations have been shown to affect CIII complex function, which results in a heterogeneous clinical phenotype including Leigh syndrome.

  20. Larval morphology and complex vocal repertoire of Rhacophorus helenae (Anura: Rhacophoridae), a rare flying frog from Vietnam.

    PubMed

    Vassilieva, Anna B; Gogoleva, Svetlana S; Poyarkov, Nikolay A Jr

    2016-01-01

    We present new data on the distribution, reproduction, larval morphology and vocalization of Rhacophorus helenae (Rhacophoridae), a narrowly distributed frog from southern Vietnam. Two new populations of R. helenae were discovered during field surveys in the lowland monsoon forests in Dong Nai and Ba Ria-Vung Tau provinces in 2010-2013. Spawning was observed in May 2013. Egg clutches containing small (2.3±0.1 mm) unpigmented eggs were embedded in a foam nest and suspended high on trees above temporary ponds. The tadpoles of R. helenae have a morphology typical of pond-dwelling Rhacophorus larvae with a moderate tail length and a labial tooth row formula of 5(2-5)/3. Postmetamorphic juveniles differed from adult frogs in the features of their coloration and less developed webbing. The complex vocal repertoire of R. helenae included five types of tonal, wideband and pulsed calls and several transitional signal types differentiated by frequency and amplitude parameters. Calls were uttered as singular signals (pulsed calls) or within non-stereotyped series of variable duration (other call types). The complex structure of the advertisement call markedly distinguishes R. helenae from other members of the Rhacophorus reinwardtii species complex. PMID:27395638

  1. Larval morphology and complex vocal repertoire of Rhacophorus helenae (Anura: Rhacophoridae), a rare flying frog from Vietnam.

    PubMed

    Vassilieva, Anna B; Gogoleva, Svetlana S; Poyarkov, Nikolay A Jr

    2016-06-24

    We present new data on the distribution, reproduction, larval morphology and vocalization of Rhacophorus helenae (Rhacophoridae), a narrowly distributed frog from southern Vietnam. Two new populations of R. helenae were discovered during field surveys in the lowland monsoon forests in Dong Nai and Ba Ria-Vung Tau provinces in 2010-2013. Spawning was observed in May 2013. Egg clutches containing small (2.3±0.1 mm) unpigmented eggs were embedded in a foam nest and suspended high on trees above temporary ponds. The tadpoles of R. helenae have a morphology typical of pond-dwelling Rhacophorus larvae with a moderate tail length and a labial tooth row formula of 5(2-5)/3. Postmetamorphic juveniles differed from adult frogs in the features of their coloration and less developed webbing. The complex vocal repertoire of R. helenae included five types of tonal, wideband and pulsed calls and several transitional signal types differentiated by frequency and amplitude parameters. Calls were uttered as singular signals (pulsed calls) or within non-stereotyped series of variable duration (other call types). The complex structure of the advertisement call markedly distinguishes R. helenae from other members of the Rhacophorus reinwardtii species complex.

  2. Infection of African buffalo (Syncerus caffer) by oryx bacillus, a rare member of the antelope clade of the Mycobacterium tuberculosis complex.

    PubMed

    Gey van Pittius, Nicolaas C; Perrett, Keith D; Michel, Anita L; Keet, Dewald F; Hlokwe, Tiny; Streicher, Elizabeth M; Warren, Robin M; van Helden, Paul D

    2012-10-01

    Mycobacterium tuberculosis complex species cause tuberculosis disease in animals and humans. Although they share 99.9% similarity at the nucleotide level, several host-adapted ecotypes of the tubercule bacilli have been identified. In the wildlife setting, probably the most well-known member of this complex is Mycobacterium bovis, the causative agent of bovine tuberculosis. The recently described oryx bacillus is an extremely rare slow-growing member of the antelope clade of the M. tuberculosis complex and is closely related to the dassie bacillus, Mycobacterium africanum and Mycobacterium microti. The antelope clade is a group of strains apparently host adapted to antelopes, as most described infections were associated with deer and antelope, most specifically the Arabian oryx (Oryx leucoryx). In this study, oryx bacillus was isolated from a free-ranging adult female African buffalo (Syncerus caffer), in good physical condition, which tested strongly positive on three consecutive comparative intradermal tuberculin tests. Upon necropsy, a single pulmonary granuloma and an active retropharyngeal lymph node was found. Comprehensive molecular genetic assays were performed, which confirmed that the causative microorganism was not M. bovis but oryx bacillus. Oryx bacillus has never been reported in Southern Africa and has never been found to infect African buffalo. The identification of this microorganism in buffalo is an important observation in view of the large and ever-increasing epidemic of the closely related M. tuberculosis complex species M. bovis in some African buffalo populations in South Africa. PMID:23060486

  3. On the formation and structure of rare-earth element complexes in aqueous solutions under hydrothermal conditions with new data on gadolinium aqua and chloro complexes

    USGS Publications Warehouse

    Mayanovic, Robert A.; Anderson, Alan J.; Bassett, William A.; Chou, I.-Ming

    2007-01-01

    Synchrotron X-ray spectroscopy experiments were made on the Gd(III) aqua and chloro complexes in low pH aqueous solutions at temperatures ranging from 25 to 500????C and at pressures up to 480??MPa using a hydrothermal diamond anvil cell. Analysis of fluorescence Gd L3-edge X-ray absorption fine structure (XAFS) spectra measured from a 0.006m Gd/0.16m HNO3 aqueous solution at temperatures up to 500????C and at pressures up to 260??MPa shows that the Gd-O distance of the Gd3+ aqua ion decreases steadily at a rate of ??? 0.007??A??/100????C whereas the number of coordinated H2O molecules decreases from 9.0 ?? 0.5 to 7.0 ?? 0.4. The loss of water molecules in the Gd3+ aqua ion inner hydration shell over this temperature range (a 22% reduction) is smaller than exhibited by the Yb3+ aqua ion (42% reduction) indicating that the former is significantly more stable than the later. We conjecture that the anomalous enrichment of Gd reported from measurement of REE concentrations in ocean waters may be attributed to the enhanced stability of the Gd3+ aqua ion relative to other REEs. Gd L3-edge XAFS measurements of 0.006m and 0.1m GdCl3 aqueous solutions at temperatures up to 500????C and pressures up to 480??MPa reveal that the onset of significant Gd3+-Cl- association occurs around 300????C. Partially-hydrated stepwise inner-sphere complexes most likely of the type Gd(H2O)??-nCln+3-n occur in the chloride solutions at higher temperatures, where ?? ??? 8 at 300????C decreasing slightly to an intermediate value between 7 and 8 upon approaching 500????C. This is the first direct evidence for the occurrence of partially-hydrated REE Gd (this study) and Yb [Mayanovic, R.A., Jayanetti, S., Anderson, A.J., Bassett, W.A., Chou, I-M., 2002a. The structure of Yb3+ aquo ion and chloro complexes in aqueous solutions at up to 500 ??C and 270 MPa. J. Phys. Chem. A 106, 6591-6599.] chloro complexes in hydrothermal solutions. The number of chlorides (n) of the partially-hydrated Gd

  4. Rare evidence for formation of garnet + corundum during isobaric cooling of ultrahigh temperature metapelites: New insights for retrograde P-T trajectory of the Highland Complex, Sri Lanka

    NASA Astrophysics Data System (ADS)

    Dharmapriya, P. L.; Malaviarachchi, Sanjeeva P. K.; Galli, Andrea; Su, Ben-Xun; Subasinghe, N. D.; Dissanayake, C. B.

    2015-04-01

    We report the occurrence of coexisting garnet + corundum in spinel- and corundum-bearing, garnet-sillimanite-biotite-graphite gneiss (pelitic granulites) from the Highland Complex (HC), Sri Lanka. In the investigated pelitic granulites, two domains such as quartz-saturated and quartz-undersaturated are distinguishable. The quartz-saturated domains consist of porphyroblastic garnet, quartz, plagioclase, alkali-feldspar and biotite flakes rimming garnet. The quartz-undersaturated domains are constituted of two generations of garnet (Grt1 and Grt2), sillimanite, plagioclase, alkali-feldspar, corundum, spinel and biotite. Grt1 encloses rare Ti-rich biotite and numerous rutile needles and apatite rods. Grt2 contains rare sillimanite and/or spinel inclusions. Corundum occurs in mutual contact with Grt2, partially embedded at the rim or as an inclusions in Grt2. Thermobarometry on inclusion phases in Grt1 indicates that during the prograde history pelitic granulites attained a P of 10.5-11 kbar at T of ~ 850 °C. Textural observations coupled with both pseudosections calculated in the NCKFMASHTMnO system and Ti-in-Garnet geothermobarometry suggest that peak metamorphism occurred at ultrahigh temperature (UHT) conditions of 950-975 °C and pressures of 9-9.5 kbar. Peak T was followed by a period of isobaric cooling that formed corundum and Grt2 at approx. 930 °C along with exsolution of rutile needles and apatite rods in Grt1. Thermodynamic modelling confirms that corundum appears along an isobaric cooling path at about 920-930 °C and 9-9.5 kbar. Therefore, the investigated granulites provide a rare example of post-peak crystallization of garnet + corundum along a retrograde metamorphic trajectory under UHT conditions. Thus, isobaric cooling at the base of the crust could be regarded as an alternative process to form coexisting garnet + corundum.

  5. Preparation, crystal structure and optical spectroscopy of the rare earth complexes (RE 3+=Sm, Eu, Gd and Tb) with 2-thiopheneacetate anion

    NASA Astrophysics Data System (ADS)

    Teotonio, Ercules E. S.; Brito, Hermi F.; Felinto, Maria Cláudia F. C.; Thompson, Larry C.; Young, Victor G.; Malta, Oscar L.

    2005-09-01

    Rare earth complexes with the formulae Sm(TPAC) 3·3H 2O, Eu 2(TPAC) 6·5.25H 2O and RE(TPAC) 3·3.5H 2O (where RE=Gd and Tb), and TPAC=2-thiopheneacetate) have been synthesized and characterized by complexometric titration, elemental analyses, infrared spectroscopy, and X-ray crystallography. Infrared data suggested the presence of both bridging and chelating TPAC anions. The crystal structure of the [Eu 2(TPAC) 6·(H 2O) 3]·2.25H 2O complex in the solid state, determined by X-ray diffraction, revealed that it crystallizes in the orthorhombic crystal system (space group Aba2), with two crystallographically independent Eu 3+ centers (Eu1 and Eu2). These europium centers are held together by one bidentate bridging and two tridentate bridging carboxylate groups. The existence of two Eu 3+ centers was also supported by the emission spectrum. The luminescence properties of the RE-TPAC complexes were investigated by measuring the excitation and emission spectra, and the intramolecular ligand-to-rare earth energy transfer mechanisms were discussed. The emission spectra of the Eu 3+ and Tb 3+ ions displayed only narrow bands arising from 5D 0→ 7F 0 and 5D 0→ 7F 0-4 transitions, respectively, indicating an efficient luminescence sensitization of these ions by the TPAC 'antenna'. On the other hand, the emission spectrum of the Sm 3+-complex displayed a broad band from the phosphorescence of the TPAC ligand which overlapped the 4f 5-intraconfigurational transitions. The theoretical intensity parameters Ωλ ( λ=2 and 4), maximum splitting of the 7F 1 state (Δ E) and the ratio between the 5D 0→ 7F 0 and 5D 0→ 7F 2 transition intensities ( R02) were calculated based on the X-ray crystalline structure for the Eu 3+-complex, and a comparison with experimental data were made. The emission quantum efficiency ( η) of the D5 emitting level of the Eu 3+ ion was also determined.

  6. Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants.

    PubMed

    Wang, William Y S; Cordell, Heather J; Todd, John A

    2003-01-01

    Association mapping in linked regions is a current major approach for the identification of genes for complex diseases. Loci contributing to linkage, even with small values of sibling recurrence risk (lambda(s)), may be equivalent to substantial underlying genetic effects for association studies. For disease alleles with a frequency as low as 1%, highly reliable association studies (80% power for significance level alpha=10(-6)) require only 277, 781, and 1289 families or cases and controls for loci detected with lambda(s) of 1.5, 1.1, and 1.05, respectively, under a multiplicative genetic model. Under alternative models, provided epistatic effects are minor, larger achievable sample sizes will provide sufficient power to map almost any disease gene that may have initially contributed to linkage.

  7. NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2

    PubMed Central

    Muise, Aleixo M; Xu, Wei; Guo, Cong-Hui; Walters, Thomas D; Wolters, Victorien M; Fattouh, Ramzi; Lam, Grace Y; Hu, Pingzhao; Murchie, Ryan; Sherlock, Mary; Gana, Juan Cristóbal; Russell, Richard K; Glogauer, Michael; Duerr, Richard H; Cho, Judy H; Lees, Charlie W; Satsangi, Jack; Wilson, David C; Paterson, Andrew D; Griffiths, Anne M; Silverberg, Mark S; Brumell, John H

    2013-01-01

    Objective The NOX2 NADPH oxidase complex produces reactive oxygen species and plays a critical role in the killing of microbes by phagocytes. Genetic mutations in genes encoding components of the complex result in both X-linked and autosomal recessive forms of chronic granulomatous disease (CGD). Patients with CGD often develop intestinal inflammation that is histologically similar to Crohn's colitis, suggesting a common aetiology for both diseases. The aim of this study is to determine if polymorphisms in NOX2 NADPH oxidase complex genes that do not cause CGD are associated with the development of inflammatory bowel disease (IBD). Methods Direct sequencing and candidate gene approaches were used to identify susceptibility loci in NADPH oxidase complex genes. Functional studies were carried out on identified variants. Novel findings were replicated in independent cohorts. Results Sequence analysis identified a novel missense variant in the neutrophil cytosolic factor 2 (NCF2) gene that is associated with very early onset IBD (VEO-IBD) and subsequently found in 4% of patients with VEO-IBD compared with 0.2% of controls (p=1.3×10−5, OR 23.8 (95% CI 3.9 to 142.5); Fisher exact test). This variant reduced binding of the NCF2 gene product p67phox to RAC2. This study found a novel genetic association of RAC2 with Crohn's disease (CD) and replicated the previously reported association of NCF4 with ileal CD. Conclusion These studies suggest that the rare novel p67phox variant results in partial inhibition of oxidase function and are associated with CD in a subgroup of patients with VEO-IBD; and suggest that components of the NADPH oxidase complex are associated with CD. PMID:21900546

  8. The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

    PubMed Central

    Fuchsberger, Christian; Flannick, Jason; Rivas, Manuel A.; Gaulton, Kyle J.; Albers, Patrick K.; McVean, Gil; Boehnke, Michael; Altshuler, David; McCarthy, Mark I.

    2015-01-01

    Genome and exome sequencing in large cohorts enables characterization of the role of rare variation in complex diseases. Success in this endeavor, however, requires investigators to test a diverse array of genetic hypotheses which differ in the number, frequency and effect sizes of underlying causal variants. In this study, we evaluated the power of gene-based association methods to interrogate such hypotheses, and examined the implications for study design. We developed a flexible simulation approach, using 1000 Genomes data, to (a) generate sequence variation at human genes in up to 10K case-control samples, and (b) quantify the statistical power of a panel of widely used gene-based association tests under a variety of allelic architectures, locus effect sizes, and significance thresholds. For loci explaining ~1% of phenotypic variance underlying a common dichotomous trait, we find that all methods have low absolute power to achieve exome-wide significance (~5-20% power at α=2.5×10-6) in 3K individuals; even in 10K samples, power is modest (~60%). The combined application of multiple methods increases sensitivity, but does so at the expense of a higher false positive rate. MiST, SKAT-O, and KBAC have the highest individual mean power across simulated datasets, but we observe wide architecture-dependent variability in the individual loci detected by each test, suggesting that inferences about disease architecture from analysis of sequencing studies can differ depending on which methods are used. Our results imply that tens of thousands of individuals, extensive functional annotation, or highly targeted hypothesis testing will be required to confidently detect or exclude rare variant signals at complex disease loci. PMID:25906071

  9. Synthesis of main group, rare-earth, and d{sup 0} metal complexes containing beta-hydrogen

    SciTech Connect

    Yan, Ka King

    2013-01-01

    A series of organometallic compounds containing the tris(dimethylsilyl)methyl ligand are described. The potassium carbanions KC(SiHMe2)3 and KC(SiHMe2})3TMEDA are synthesized by deprotonation of the hydrocarbon HC(SiHMe2)3 with potassium benzyl. KC(SiHMe2)3TMEDA crystallizes as a dimer with two types of three-center-two-electron KH- Si interactions. Homoleptic Ln(III) tris(silylalkyl) complexes containing β-SiH groups M{C(SiHMe2)3}3 (Ln = Y, Lu, La) are synthesized from salt elimination of the corresponding lanthanide halide and 3 equiv. of KC(SiHMe2)3. The related reactions with Sc yield bis(silylalkyl) ate-complexes containing either LiCl or KCl. The divalent calcium and ytterbium compounds M{C(SiHMe2)3}2L (M = Ca, Yb; L = THF2 or TMEDA) are prepared from MI2 and 2 equiv of KC(SiHMe2)3. The compounds M{C(SiHMe2)3}2L (M = Ca, Yb; L = THF2 or TMEDA) and La{C(SiHMe2)3}3 react with 1 equiv of B(C6F5)3 to give 1,3- disilacyclobutane {Me2Si-C(SiHMe2)2}2 and MC(SiHMe2)3HB(C6F5)3L, and La{C(SiHMe2)3}2HB(C6F5)3, respectively. The corresponding reactions of Ln{C(SiHMe2)3}3 (Ln = Y, Lu) give the β-SiH abstraction product [{(Me2HSi)3C}2LnC(SiHMe2)2SiMe2][HB(C6F5)3] (Ln = Y, Lu), but the silene remains associated with the Y or Lu center. The abstraction reactions of M{C(SiHMe2)3}2L (M = Ca, Yb; L = THF2or TMEDA) and Ln{C(SiHMe2)3}3 (Ln = Y, Lu, La) and 2 equiv of B(C6

  10. Rare-earth metal complexes having an unusual indolyl-1,2-dianion through C-H activation with a novel η1:(μ2-η1:η1) bonding with metals.

    PubMed

    Zhu, Xiancui; Zhou, Shuangliu; Wang, Shaowu; Wei, Yun; Zhang, Lijun; Wang, Fenhua; Wang, Shaoyin; Feng, Zhijun

    2012-12-21

    Studies on the reactions of 3-(tert-butyliminomethine)indole or 3-(tert-butylaminomethylene)indole with rare-earth metal amides [(Me(3)Si)(2)N](3)RE(III)(μ-Cl)Li(THF)(3) (RE = Y, Yb) led to the discovery of different reactivity patterns with isolation of novel rare-earth metal complexes having a unique indolyl-1,2-dianion in a novel η(1):(μ(2)-η(1):η(1)) bonding mode through C-H activation.

  11. Theoretical study of mixed LiLnX4 (Ln = La, Dy; X = F, Cl, Br, I) rare earth/alkali halide complexes.

    PubMed

    Groen, C P; Oskam, A; Kovács, A

    2000-12-25

    The structure, bonding and vibrational properties of the mixed LiLnX4 (Ln = La, Dy; X = F, Cl, Br, I) rare earth/alkali halide complexes were studied using various quantum chemical methods (HF, MP2 and the Becke3-Lee-Yang-Parr exchange-correlation density functional) in conjunction with polarized triple-zeta valence basis sets and quasi-relativistic effective core potentials for the heavy atoms. Our comparative study indicated the superiority of MP2 theory while the HF and B3-LYP methods as well as less sophisticated basis sets failed for the correct energetic relations. In particular, f polarization functions on Li and X proved to be important for the Li...X interaction in the complexes. From the three characteristic structures of such complexes, possessing 1-(C3v), 2-(C2v), or 3-fold coordination (C3v) between the alkali metal and the bridging halide atoms, the bi- and tridentate forms are located considerably lower on the potential energy surface then the monodentate isomer. Therefore only the bi- and tridentate isomers have chemical relevance. The monodentate isomer is only a high-lying local minimum in the case of X = F. For X = Cl, Br, and I this structure is found to be a second-order saddle point. The bidentate structure was found to be the global minimum for the systems with X = F, Cl, and Br. However, the relative stability with respect to the tridentate structure is very small (1-5 kJ/mol) for the heavier halide derivatives and the relative order is reversed in the case of the iodides. The energy difference between the three structures and the dissociation energy decrease in the row F to I. The ionic bonding in the complexes was characterized by natural charges and a topological analysis of the electron density distribution according to Bader's theorem. Variation of the geometrical and bonding characteristics between the lanthanum and dysprosium complexes reflects the effect of "lanthanide contraction". The calculated vibrational data indicate that

  12. Rare earth gas laser

    DOEpatents

    Krupke, W.F.

    1975-10-31

    A high energy gas laser with light output in the infrared or visible region of the spectrum is described. Laser action is obtained by generating vapors of rare earth halides, particularly neodymium iodide or, to a lesser extent, neodymium bromide, and disposing the rare earth vapor medium in a resonant cavity at elevated temperatures; e.g., approximately 1200/sup 0/ to 1400/sup 0/K. A particularly preferred gaseous medium is one involving a complex of aluminum chloride and neodymium chloride, which exhibits tremendously enhanced vapor pressure compared to the rare earth halides per se, and provides comparable increases in stored energy densities.

  13. New reversed phase-high performance liquid chromatographic method for selective separation of yttrium from all rare earth elements employing nitrilotriacetate complexes in anion exchange mode.

    PubMed

    Dybczyński, Rajmund S; Kulisa, Krzysztof; Pyszynska, Marta; Bojanowska-Czajka, Anna

    2015-03-20

    Separation of Y from other rare earth elements (REE) is difficult because of similarity of its ionic radius to ionic radii of Tb, Dy and Ho. In the new RP-HPLC system with C18 column, tetra-n-butyl ammonium hydroxide (TBAOH) as an ion interaction reagent (IIR), nitrilotriacetic acid (NTA) as a complexing agent at pH=2.8-3.5, and post column derivatization with Arsenazo III, yttrium is eluted in the region of light REE, between Nd and Sm and is base line separated from Nd and Sm and even from promethium. Simple model employing literature data on complex formation of REE with NTA and based on anion exchange mechanism was developed to foresee the order of elution of individual REE. The model correctly predicted that lanthanides up to Tb will be eluted in the order of increasing Atomic Number (At.No.) but all heavier REE will show smaller retention factors than Tb. Concurrent UV/VIS detection at 658nm and the use of radioactive tracers together with γ-ray spectrometric measurements made possible to establish an unique elution order of elution of REE: La, Ce, Pr, Nd, Pm, Y, Sm, Er, Ho, Tm, Yb, Eu, Lu, Dy+Gd, Tb, Sc. The real place of Y however, in this elution series differs from that predicted by the model (Y between Sm and Eu). The method described in this work enables selective separation of Y from La, Ce, Pr, Nd, Pm, Sm and all heavier REE treated as a group.

  14. A velocity map imaging study of gold-rare gas complexes: Au-Ar, Au-Kr, and Au-Xe

    NASA Astrophysics Data System (ADS)

    Hopkins, W. Scott; Woodham, Alex P.; Plowright, Richard J.; Wright, Timothy G.; Mackenzie, Stuart R.

    2010-06-01

    The ultraviolet photodissociation dynamics of the gold-rare gas atom van der Waals complexes (Au-RG, RG=Ar, Kr, and Xe) have been studied by velocity map imaging. Photofragmentation of Au-Ar and Au-Kr at several wavelengths permits extrapolation to zero of the total kinetic energy release (TKER) spectra as monitored in the Au(P23/2∘[5d106p]) fragment channel, facilitating the determination of ground state dissociation energies of D0″(Au-Ar)=149±13 cm-1 and D0″(Au-Kr)=240±19 cm-1, respectively. In the same spectral region, transitions to vibrational levels of an Ω'=1/2 state of the Au-Xe complex result in predissociation to the lower Au(P21/2∘[5d106p])+Xe(S10[5p6]) fragment channel for which TKER extrapolation yields a value of D0″(Au-Xe)=636±27 cm-1. Asymmetric line shapes for transitions to the v'=14 level of this state indicate coupling to the Au(P23/2∘[5d106p])+Xe(S10[5p6]) continuum, which allows us to refine this value to D0″(Au-Xe)=607±5 cm-1. The dissociation dynamics of this vibrational level have been studied at the level of individual isotopologues by fitting the observed excitation spectra to Fano profiles. These fits reveal a remarkable variation in the predissociation dynamics for different Au-Xe isotopologues. For Au-Ar and Au-Xe, the determined ground state dissociation energies are in good agreement with recent theoretical calculations; the agreement of the Au-Kr value with theory is less satisfactory.

  15. Application of liver three-dimensional printing in hepatectomy for complex massive hepatocarcinoma with rare variations of portal vein: preliminary experience

    PubMed Central

    Xiang, Nan; Fang, Chihua; Fan, Yingfang; Yang, Jian; Zeng, Ning; Liu, Jun; Zhu, Wen

    2015-01-01

    Background: To discuss the role of Liver 3D printing in the treatment of complex massive hepatocarcinoma with rare variations of portal vein. Methods: Data of enhanced computed tomography (CT) were imported into the medical image three-dimensional visualization system (MI-3DVS) to create Standard Template Library (STL) files, which were read by 3D printer to construct life-size 3D physical liver model. The preoperative surgical planning was performed on the 3D model according to individualized segmentation, volume calculation, and virtual operation. Results: The 3D printing liver model was consistent with the model in MI-3DVS. The segment 4 portal vein (S4PV) was absent and variant S4PV originated from right anterior portal vein (RAPV). The preoperative surgical planning was designed according to the relationship between tumor and portal vein variation. Theoretically, the residual liver volume was 40.76%, if the right hemihepatctomy was carried out after the trunk of right portal vein (RPV) ligated. However, the actual residual volume was only 21.37% due to the variant S4PV originates from RAPV, thus, right trisegmentectomy would have to be performed. Interestingly, after optimization, the residual liver volume increased to 57.25% as narrow-margin right hemihepatectomy with the variant S4PV reserved were performed. The final resection was determined to be narrow-margin right hemihepatectomy. The actual surgical procedure was consistent with the preoperative surgical planning. Conclusion: Liver 3D printing may be a safe and effective technique to improve the success rate of surgery and reduce the operation risk for patients with complex massive hepatocarcinoma with variations of portal vein. PMID:26770510

  16. Spatial Dynamics of the Communities and the Role of Major Countries in the International Rare Earths Trade: A Complex Network Analysis

    PubMed Central

    Wang, Xibo; Ge, Jianping; Wei, Wendong; Li, Hanshi; Wu, Chen; Zhu, Ge

    2016-01-01

    Rare earths (RE) are critical materials in many high-technology products. Due to the uneven distribution and important functions for industrial development, most countries import RE from a handful of suppliers that are rich in RE, such as China. However, because of the rapid growth of RE exploitation and pollution of the mining and production process, some of the main suppliers have gradually tended to reduce the RE production and exports. Especially in the last decade, international RE trade has been changing in the trade community and trade volume. Based on complex network theory, we built an unweighted and weighted network to explore the evolution of the communities and identify the role of the major countries in the RE trade. The results show that an international RE trade network was dispersed and unstable because of the existence of five to nine trade communities in the unweighted network and four to eight trade communities in the weighted network in the past 13 years. Moreover, trade groups formed due to the great influence of geopolitical relations. China was often associated with the South America and African countries in the same trade group. In addition, Japan, China, the United States, and Germany had the largest impacts on international RE trade from 2002 to 2014. Last, some policy suggestions were highlighted according to the results. PMID:27137779

  17. Spatial Dynamics of the Communities and the Role of Major Countries in the International Rare Earths Trade: A Complex Network Analysis.

    PubMed

    Wang, Xibo; Ge, Jianping; Wei, Wendong; Li, Hanshi; Wu, Chen; Zhu, Ge

    2016-01-01

    Rare earths (RE) are critical materials in many high-technology products. Due to the uneven distribution and important functions for industrial development, most countries import RE from a handful of suppliers that are rich in RE, such as China. However, because of the rapid growth of RE exploitation and pollution of the mining and production process, some of the main suppliers have gradually tended to reduce the RE production and exports. Especially in the last decade, international RE trade has been changing in the trade community and trade volume. Based on complex network theory, we built an unweighted and weighted network to explore the evolution of the communities and identify the role of the major countries in the RE trade. The results show that an international RE trade network was dispersed and unstable because of the existence of five to nine trade communities in the unweighted network and four to eight trade communities in the weighted network in the past 13 years. Moreover, trade groups formed due to the great influence of geopolitical relations. China was often associated with the South America and African countries in the same trade group. In addition, Japan, China, the United States, and Germany had the largest impacts on international RE trade from 2002 to 2014. Last, some policy suggestions were highlighted according to the results.

  18. Spatial Dynamics of the Communities and the Role of Major Countries in the International Rare Earths Trade: A Complex Network Analysis.

    PubMed

    Wang, Xibo; Ge, Jianping; Wei, Wendong; Li, Hanshi; Wu, Chen; Zhu, Ge

    2016-01-01

    Rare earths (RE) are critical materials in many high-technology products. Due to the uneven distribution and important functions for industrial development, most countries import RE from a handful of suppliers that are rich in RE, such as China. However, because of the rapid growth of RE exploitation and pollution of the mining and production process, some of the main suppliers have gradually tended to reduce the RE production and exports. Especially in the last decade, international RE trade has been changing in the trade community and trade volume. Based on complex network theory, we built an unweighted and weighted network to explore the evolution of the communities and identify the role of the major countries in the RE trade. The results show that an international RE trade network was dispersed and unstable because of the existence of five to nine trade communities in the unweighted network and four to eight trade communities in the weighted network in the past 13 years. Moreover, trade groups formed due to the great influence of geopolitical relations. China was often associated with the South America and African countries in the same trade group. In addition, Japan, China, the United States, and Germany had the largest impacts on international RE trade from 2002 to 2014. Last, some policy suggestions were highlighted according to the results. PMID:27137779

  19. Rare particles

    SciTech Connect

    Kutschera, W.

    1984-01-01

    The use of Accelerator Mass Spectrometry (AMS) to search for hypothetical particles and known particles of rare processes is discussed. The hypothetical particles considered include fractionally charged particles, anomalously heavy isotopes, and superheavy elements. The known particles produced in rare processes discussed include doubly-charged negative ions, counting neutrino-produced atoms in detectors for solar neutrino detection, and the spontaneous emission of /sup 14/C from /sup 223/Ra. 35 references. (WHK)

  20. The aqueous geochemistry of the rare earth elements and yttrium: VI. Stability of neodymium chloride complexes from 25 to 300°C

    NASA Astrophysics Data System (ADS)

    Gammons, C. H.; Wood, S. A.; Williams-Jones, A. E.

    1996-12-01

    The stability and stoichiometry of Nd (III) chloride complexes have been experimentally determined in the temperature range 40 to 300°C, P = Psat. The solubility of AgCl (s) was measured in solutions of fixed HC1 + NaC1 concentration (0.01 to 5.0 m) and varying ΣNd/ΣCl molar ratio (0.0 to 0.5), following the method of Gammons (1995). The results of over 250 individual solubility experiments were regressed to obtain the following smoothed values for the first and second cumulative association constants for the Nd(III) chloride complexes: Nd3+ + Cl- = NdC12+ (β1); Nd3+ + 2Cl- = NdCl2+ (β2):25°C50°C100°C150°C200°C250°C300°log β10.060.210.661.312.173.224.48±.50±.30±.20±.20±.15±.30±.50log β2--0.131.082.524.456.87±.50±.30±.15±.50c]±.50These are the first experimentally determined equilibrium constants for chloride complexes of any rare earth element (REE) at elevated temperature. At 25°C, neodymium exists mainly as Nd3+ in the absence of high concentrations of Cl- and other ligands (F-, CO3-, SO4-). However, complexation with chloride is greatly enhanced by increase in temperature, such that NdC12+, NdC12+, and possibly NdCl30 become the dominant species for NaClsbnd HClsbnd H2O brines at 300°C. The experimental data indicate a higher degree of complexation than predicted from earlier theoretical studies (Wood, 1990b; Haas et al., 1995), particularly in the case of log β2. Calculations of monazite solubility in seafloor hydrothermal systems (Wood and Williams-Jones, 1994) are re-evaluated in light of our new experimental data. Chloride complexes are shown to dominate the aqueous Nd socciation at 300°C, and lead to solubilities that are (1) much higher than previously estimated and (2) much closer to the maximum concentrations that have been reported from active black smokers. However, the large fluxes of REEs in altered rock beneath ancient massive sulfide deposits are still difficult to explain assuming that modern seafloor hydrothermal

  1. A New Series of Complexes Possessing Rare “Tertiary” Sulfonamide Nitrogen-to-Metal Bonds of Normal Length: fac-[Re(CO)3(N(SO2R)dien)]PF6 Complexes with Hydrophilic Sulfonamide Ligands

    PubMed Central

    Abhayawardhana, Pramuditha L.; Marzilli, Patricia A.; Fronczek, Frank R.

    2014-01-01

    Tertiary sulfonamide nitrogen-to-metal bonds of normal length are very rare. We recently discovered such a bond in one class of fac-[Re(CO)3(N(SO2R)(CH2Z)2)]n complexes (Z = 2-pyridyl) with N(SO2R)dpa ligands derived from di-(2-picolyl)amine (N(H)dpa). fac-[M(CO)3(N(SO2R)(CH2Z)2)]n agents (M = 186/188Re, 99mTc) could find use as radiopharmaceutical bioconjugates when R is a targeting moiety. However, the planar, electron-withdrawing 2-pyridyl groups of N(SO2R)dpa destabilize the ligand to base and create relatively rigid chelate rings, raising the possibility that the rare M– N(sulfonamide) bond is an artifact of a restricted geometry. Also, the hydrophobic 2-pyridyl groups could cause undesirable accumulation in the liver, limiting future use in radiopharmaceuticals. Our goal is to identify a robust, hydrophilic, and flexible N(CH2Z)2 chelate framework. New C2-symmetric ligands, N(SO2R)(CH2Z)2 with (Z = CH2NH2; R = Me, dmb, or tol), were prepared by treating N(H)dien(Boc)2, a protected diethylenetriamine (N(H)dien) derivative, with methanesulfonyl chloride (MeSO2Cl), 3,5-dimethylbenzenesulfonyl chloride (dmbSO2Cl), and 4-methylbenzenesulfonyl chloride (tolSO2Cl). Treatment of fac-[Re(CO)3(H2O)3]+ with these ligands, designated as N(SO2R)dien, afforded new fac-[Re(CO)3(N(SO2R)dien)]PF6 complexes. Comparing the fac-[Re(CO)3(N(SO2Me)dien)]PF6 and fac-[Re(CO)3(N(SO2Me)dpa)]PF6 complexes, we find that the ReI–N(sulfonamide) bonds are normal in length and statistically identical and that the methyl 13C NMR signal has an unusually upfield shift compared to that in the free ligand. We attribute this unusual upfield shift to the fact that the sulfonamide N undergoes an sp2-to-sp3 rehybridization upon coordination to ReI in both complexes. Thus, the sulfonamide N of N(SO2R)dien ligands is a good donor, even though the chelate rings are conformationally flexible. Addition of the strongly basic and potentially monodentate ligand, 4-dimethylaminopyridine, did not affect

  2. Bis(alkyl) rare-earth complexes supported by a new tridentate amidinate ligand with a pendant diphenylphosphine oxide group. Synthesis, structures and catalytic activity in isoprene polymerization.

    PubMed

    Tolpygin, Aleksei O; Glukhova, Tatyana A; Cherkasov, Anton V; Fukin, Georgy K; Aleksanyan, Diana V; Cui, Dongmei; Trifonov, Alexander A

    2015-10-01

    A new tridentate amidine 2-[Ph2P(O)]C6H4NHC(tBu)[double bond, length as m-dash]N(2,6-Me2C6H3) (1) bearing a side chain pendant Ph2P[double bond, length as m-dash]O group was synthesized and proved to be a suitable ligand for coordination to rare-earths ions. Bis(alkyl) complexes {2-[Ph2P(O)]C6H4NC(tBu)N(2,6-Me2C6H3)}Ln(CH2SiMe3)2(THF)n (Ln = Y, n = 1 (3), Ln = Er, n = 1 (4), Ln = Lu, n = 0 (5)) were prepared using alkane elimination reactions of and Ln(CH2SiMe3)3(THF)2 (Ln = Y, Er, Lu) in hexane and were isolated in 50, 70 and 75% yields respectively. The X-ray studies revealed that complexes 2-5 feature intramolecular coordination of P[double bond, length as m-dash]O groups to metal ions. The lutetium complex 5 proved to be rather stable: at 20 °C its half-life time is 1155 h, while for the yttrium analogue the half-life time was found to be 63 h. Complexes 3-5 were evaluated as precatalysts for isoprene polymerization. The systems Ln/borate/AliBu3 (Ln = 3-5, borate = [PhNHMe2][B(C6F5)4], [Ph3C][B(C6F5)4]) turned out to be highly efficient in isoprene polymerization and enable complete conversion of 1000-10,000 equivalents of monomer into polymer at 20 °C within 0.5-2.5 h affording polyisoprenes with a very high content of 1,4-cis units (up to 96.6%) and from narrow (1.49) to moderate (3.54) polydispersities. A comparative study of catalytic performance of the related bis(alkyl) yttrium complexes supported by amidinate ligands of different denticities and structures [tBuC(N-2,6iPr2C6H4)2](-), [tBuC(N-2,6-iPr2C6H4)(N-2-MeOC6H4)](-) and {2-[Ph2P(O)]C6H4NC(tBu)N(2,6-Me2C6H3)}(-) demonstrated that the introduction of a pendant donor group (2-MeOC6H4 or Ph2P(O)) into a side chain of amidinate scaffolds results in a significant increase in catalytic activity. The amidinate ligand bearing a Ph2P(O)-group provides a high isoprene polymerization rate along with excellent control over regio- and stereoselectivities and allows us to obtain polyisoprenes with a reasonable

  3. Molecular spectroscopy of uranium(IV) bis(ketimido) complexes. rare observation of resonance-enhanced raman scattering from organoactinide complexes and evidence for broken-symmetry excited states.

    PubMed

    Da Re, Ryan E; Jantunen, Kimberly C; Golden, Jeffrey T; Kiplinger, Jaqueline L; Morris, David E

    2005-01-19

    Electronic absorption and resonance-enhanced Raman spectra for ketimido (azavinylidene) complexes of tetravalent uranium, (C(5)Me(5))(2)U[-N=C(Ph)(R)](2) (R = Ph, Me, and CH(2)Ph), have been recorded. The absorption spectra exhibit four broad bands between 13 000 and 24 000 cm(-1). The highest-energy band is assigned to the ketimido-localized p( perpendicular)(N)-->pi(N=C) transition based on comparison to the spectra of (C(5)H(5))(2)Zr[-N=CPh(2)](2) and (C(5)Me(5))(2)Th[-N=CPh(2)](2). Upon excitation into any of these four absorption bands, the (C(5)Me(5))(2)U[-N=C(Ph)(R)](2) complexes exhibit resonance enhancement for several Raman bands attributable to vibrations of the ketimido ligands. Raman bands for both the symmetric and nominally asymmetric N=C stretching bands are resonantly enhanced upon excitation into the p( perpendicular)(N)-->pi(N=C) absorption bands, indicating that the excited state is localized on a single ketimido ligand. Raman excitation profiles for (C(5)Me(5))(2)U[-N=CPh(2)](2) confirm that at least one of the lower-energy electronic absorption bands (E(max) approximately 16300 cm(-1)) is a charge-transfer transition between the U(IV) center and the ketimido ligand(s). The observations of both charge-transfer transitions and resonance enhancement of Raman vibrational bands are exceedingly rare for tetravalent actinide complexes and reflect the strong bonding interactions between the uranium 5f/6d orbitals and those on the ketimido ligands. PMID:15643893

  4. Geophysical interpretation of U, Th, and rare earth element mineralization of the Bokan Mountain peralkaline granite complex, Prince of Wales Island, southeast Alaska

    USGS Publications Warehouse

    McCafferty, Anne E.; Stoeser, Douglas B.; Van Gosen, Bradley S.

    2014-01-01

    A prospectivity map for rare earth element (REE) mineralization at the Bokan Mountain peralkaline granite complex, Prince of Wales Island, southeastern Alaska, was calculated from high-resolution airborne gamma-ray data. The map displays areas with similar radioelement concentrations as those over the Dotson REE-vein-dike system, which is characterized by moderately high %K, eU, and eTh (%K, percent potassium; eU, equivalent parts per million uranium; and eTh, equivalent parts per million thorium). Gamma-ray concentrations of rocks that share a similar range as those over the Dotson zone are inferred to locate high concentrations of REE-bearing minerals. An approximately 1300-m-long prospective tract corresponds to shallowly exposed locations of the Dotson zone. Prospective areas of REE mineralization also occur in continuous swaths along the outer edge of the pluton, over known but undeveloped REE occurrences, and within discrete regions in the older Paleozoic country rocks. Detailed mineralogical examinations of samples from the Dotson zone provide a means to understand the possible causes of the airborne Th and U anomalies and their relation to REE minerals. Thorium is sited primarily in thorite. Uranium also occurs in thorite and in a complex suite of ±Ti±Nb±Y oxide minerals, which include fergusonite, polycrase, and aeschynite. These oxides, along with Y-silicates, are the chief heavy REE (HREE)-bearing minerals. Hence, the eU anomalies, in particular, may indicate other occurrences of similar HREE-enrichment. Uranium and Th chemistry along the Dotson zone showed elevated U and total REEs east of the Camp Creek fault, which suggested the potential for increased HREEs based on their association with U-oxide minerals. A uranium prospectivity map, based on signatures present over the Ross-Adams mine area, was characterized by extremely high radioelement values. Known uranium deposits were identified in the U-prospectivity map, but the largest tract occurs

  5. Dinuclear rare-earth metal alkyl complexes supported by indolyl ligands in μ-η(2) :η(1) :η(1) hapticities and their high catalytic activity for isoprene 1,4-cis-polymerization.

    PubMed

    Zhang, Guangchao; Wei, Yun; Guo, Liping; Zhu, Xiancui; Wang, Shaowu; Zhou, Shuangliu; Mu, Xiaolong

    2015-02-01

    Two series of new dinuclear rare-earth metal alkyl complexes supported by indolyl ligands in novel μ-η(2) :η(1) :η(1) hapticities are synthesized and characterized. Treatment of [RE(CH2 SiMe3 )3 (thf)2 ] with 1 equivalent of 3-(tBuN=CH)C8 H5 NH (L1 ) in THF gives the dinuclear rare-earth metal alkyl complexes trans-[(μ-η(2) :η(1) :η(1) -3-{tBuNCH(CH2 SiMe3 )}Ind)RE(thf)(CH2 SiMe3 )]2 (Ind=indolyl, RE=Y, Dy, or Yb) in good yields. In the process, the indole unit of L1 is deprotonated by the metal alkyl species and the imino C=N group is transferred to the amido group by alkyl CH2 SiMe3 insertion, affording a new dianionic ligand that bridges two metal alkyl units in μ-η(2) :η(1) :η(1) bonding modes, forming the dinuclear rare-earth metal alkyl complexes. When L1 is reduced to 3-(tBuNHCH2 )C8 H5 NH (L2 ), the reaction of [Yb(CH2 SiMe3 )3 (thf)2 ] with 1 equivalent of L2 in THF, interestingly, generated the trans-[(μ-η(2) :η(1) :η(1) -3-{tBuNCH2 }Ind)Yb(thf)(CH2 SiMe3 )]2 (major) and cis-[(μ-η(2) :η(1) :η(1) -3-{tBuNCH2 }Ind)Yb(thf)(CH2 SiMe3 )]2 (minor) complexes. The catalytic activities of these dinuclear rare-earth metal alkyl complexes for isoprene polymerization were investigated; the yttrium and dysprosium complexes exhibited high catalytic activities and high regio- and stereoselectivities for isoprene 1,4-cis-polymerization.

  6. Rare earths

    USGS Publications Warehouse

    Gambogi, J.

    2013-01-01

    Global mine production of rare earths was estimated to have declined slightly in 2012 relative to 2011 (Fig. 1). Production in China was estimated to have decreased to 95 from 105 kt (104,700 from 115,700 st) in 2011, while new mine production in the United States and Australia increased.

  7. Rare gas isotopes and parent trace elements in ultrabasic-alkaline-carbonatite complexes, Kola Peninsula: identification of lower mantle plume component

    NASA Astrophysics Data System (ADS)

    Tolstikhin, I. N.; Kamensky, I. L.; Marty, B.; Nivin, V. A.; Vetrin, V. R.; Balaganskaya, E. G.; Ikorsky, S. V.; Gannibal, M. A.; Weiss, D.; Verhulst, A.; Demaiffe, D.

    2002-03-01

    During the Devonian magmatism (370 Ma ago) ˜20 ultrabasic-alkaline-carbonatite complexes (UACC) were formed in the Kola Peninsula (north-east of the Baltic Shield). In order to understand mantle and crust sources and processes having set these complexes, rare gases were studied in ˜300 rocks and mineral separates from 9 UACC, and concentrations of parent Li, K, U, and Th were measured in ˜70 samples. 4He/ 3He ratios in He released by fusion vary from pure radiogenic values ˜10 8 down to 6 × 10 4. The cosmogenic and extraterrestrial sources as well as the radiogenic production are unable to account for the extremely high abundances of 3He, up to 4 × 10 -9 cc/g, indicating a mantle-derived fluid in the Kola rocks. In some samples helium extracted by crushing shows quite low 4He/ 3He = 3 × 10 4, well below the mean ratio in mid ocean ridge basalts (MORB), (8.9 ± 1.0) × 10 4, indicating the contribution of 3He-rich plume component. Magnetites are principal carriers of this component. Trapped 3He is extracted from these minerals at high temperatures 1100°C to 1600°C which may correspond to decrepitation or annealing primary fluid inclusions, whereas radiogenic 4He is manly released at a temperature range of 500°C to 1200°C, probably corresponding to activation of 4He sites degraded by U, Th decay. Similar 4He/ 3He ratios were observed in Oligocene flood basalts from the Ethiopian plume. According to a paleo-plate-tectonic reconstruction, 450 Ma ago the Baltica (including the Kola Peninsula) continent drifted not far from the present-day site of that plume. It appears that both magmatic provinces could relate to one and the same deep-seated mantle source. The neon isotopic compositions confirm the occurrence of a plume component since, within a conventional 20Ne/ 22Ne versus 21Ne/ 22Ne diagram, the regression line for Kola samples is indistinguishable from those typical of plumes, such as Loihi (Hawaii). 20Ne/ 22Ne ratios (up to 12.1) correlate well with 40

  8. A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis

    PubMed Central

    Zhang, Ya-nan; Dong, Xing-sheng; Huang, Yang-yu; Son, Xin-ming; Lu, Xinyan; Chen, Zheng

    2013-01-01

    Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs), diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5)(p13.3p15.33) spanning ∼26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5) (q23;p14.1p15.31),ins(21;5)(q21;p13.3p14.1),ins(21;5)(q21;p15.31p15.33),inv(7)(p22q32)dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5) identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5). Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family. PMID:24143197

  9. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.

    PubMed

    Gu, Heng; Jiang, Jian-hui; Li, Jian-ying; Zhang, Ya-nan; Dong, Xing-sheng; Huang, Yang-yu; Son, Xin-ming; Lu, Xinyan; Chen, Zheng

    2013-01-01

    Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs), diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5)(p13.3p15.33) spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5) (q23;p14.1p15.31),ins(21;5)(q21;p13.3p14.1),ins(21;5)(q21;p15.31p15.33),inv(7)(p22q32)dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5) identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5). Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family. PMID:24143197

  10. Not so Rare, Rare Diseases

    ERIC Educational Resources Information Center

    Waldman, H. Barry; Perlman, Steven P.; Munter, Beverly L.; Chaudhry, Ramiz A.

    2008-01-01

    A rare disease or condition is defined by federal legislation such that it: (1) affects less than 200,000 persons in the U.S.; or (2) affects more than 200,000 persons in the U.S. but for which there is no reasonable expectation that the cost of developing and making available in the U.S. a drug for such disease or condition will be recovered from…

  11. Solvothermal syntheses and characterizations of three new holmium selenidostannates(iv): a rare example of adamantane-like [Sn4Se10](4-) selenidostannate(iv) with lanthanide complexes.

    PubMed

    Xiao, Hong-Ping; Zhou, Jian; Wang, Xiao-Li; Zou, Hua-Hong; Zhao, Rong-Qing; Xiao, Hong

    2014-08-28

    Three new holmium selenidostannates(iv), [Ho(dap)4]2[Sn2Se6]Cl2 (, dap = diaminopropane), {[Ho(dien)2]2(μ2-OH)2}[Sn2Se6] (, dien = diethylenetriamine), and [Ho2(tepa)2(μ2-OH)2Cl2]2[Sn4Se10]·4H2O (, tepa = tetraethylenepentamine), have been solvothermally synthesized and structurally characterized. consists of two mononuclear [Ho(dap)4](3+) complex cations, one [Sn2Se6](4-) anion built up from two [SnSe4] tetrahedra sharing a common edge, and two Cl(-) ions. consists of one binuclear holmium(iii) complex {[Ho(dien)2]2(μ2-OH)2}(4+) cation and one dimeric [Sn2Se6](4-) anion. is composed of rare binuclear holmium(iii) complex [Ho2(tepa)2(μ2-OH)2Cl2](2+) cations, adamantane-like [Sn4Se10](4-) and free water molecules. Although a few chalcogenidostannates(iv) with lanthanide(iii) complex cations acting as counterions have been reported, their anions are strongly dominated by the dimeric [Sn2Se6](4-) moieties. represents a rare example of an adamantane-like [Sn4Se10](4-) selenidostannate with lanthanide complexes as counterions. The optical properties of have been investigated by UV-vis spectroscopy.

  12. Synthesis, characterization and cytotoxicity of rare earth metal ion complexes of N,N‧-bis-(2-thiophenecarboxaldimine)-3,3‧-diaminobenzidene, Schiff base ligand

    NASA Astrophysics Data System (ADS)

    Shakir, Mohammad; Abbasi, Ambreen; Faraz, Mohammad; Sherwani, Asif

    2015-12-01

    Lanthanide complexes of La3+, Pr3+, Nd3+, Gd3+, Er3+ of general formula [Ln2 L(H2O)4(NO3)4](NO3)2·2H2O have been synthesized from Schiff base, N,N‧-bis-(2-thiophenecarboxaldimine)-3,3‧-diaminobenzidene. The complexes were characterized by elemental analysis, molar conductance, UV-Vis, fluorescence, FT-IR,1H NMR, mass spectroscopy, EDX, SEM and thermal analysis. FT-IR spectral data suggested that ligand coordinate with metal ions through azomethine nitrogen and uncondensed amino group. Molar conductance data revealed 1:2 electrolytic nature of complexes. From the analytical data, the stoichiometry of the complexes was found to be 1:2 (ligand:metal). Thephysico-chemical data suggested eight coordination number for Ln(III)Schiffbase complexes. SEM analysis shows morphological changes in the surfaces of complexes as compared to free ligand. Thermal decomposition profiles were consistent with proposed formulations. The anticancer activity of the complexes and theSchiffbase ligand has been studied towards human cervical cancer celllines (HeLa) and human breast cancer cell lines (MCF-7) and it was found that complexes exhibited greater activity than theSchiffbase.

  13. Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

    PubMed Central

    Lal, Dennis; Neubauer, Bernd A.; Toliat, Mohammad R.; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Kamrath, Clemens; Schänzer, Anne; Sander, Thomas; Hahn, Andreas; Nothnagel, Michael

    2016-01-01

    Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an almost routine basis. Here, we describe the illustrative case of a single consanguineous family where this strategy suffered from the difficulty to distinguish between two etiologically distinct disorders, namely the co-occurrence of hereditary hypophosphatemic rickets (HRR) and congenital myopathies (CM), by their phenotypic manifestation alone. We used parametric linkage analysis, homozygosity mapping and whole exome-sequencing to identify mutations underlying HRR and CM. We also present an approximate approach for assessing the probability of co-occurrence of two unlinked recessive RD in a single family as a function of the degree of consanguinity and the frequency of the disease-causing alleles. Linkage analysis and homozygosity mapping yielded elusive results when assuming a single RD, but whole-exome sequencing helped to identify two mutations in two genes, namely SLC34A3 and SEPN1, that segregated independently in this family and that have previously been linked to two etiologically different diseases. We assess the increase in chance co-occurrence of rare diseases due to consanguinity, i.e. under circumstances that generally favor linkage mapping of recessive disease, and show that this probability can increase by several orders of magnitudes. We conclude that such potential co-occurrence represents an underestimated risk when analyzing rare or undefined diseases in consanguineous families and should be given more consideration in the clinical and genetic evaluation. PMID:26789268

  14. New Family of Lanthanide-Based Complexes with Different Scorpionate-Type Ligands: A Rare Case Where Dysprosium and Ytterbium Analogues Display Single-Ion-Magnet Behavior.

    PubMed

    Lannes, Anthony; Luneau, Dominique

    2015-07-20

    A new family of lanthanide complexes [Ln(Tpz)2Bpz]·xCH2Cl2 (Ln = Gd, Tb, Dy, Ho, x = 0.5; Ln = Yb, x = 1; Tpz = hydrotris(pyrazolyl)borate; Bpz = dihydrobis(pyrazolyl)borate) has been synthesized. Those complexes have been characterized by single-crystal X-ray diffraction, and the magnetic properties have been investigated. Both dysprosium and ytterbium analogues display single-ion-magnet behavior, despite the difference in their spatial distribution of 4f electronic charges. Theoretical calculations with crystal field parameters have been carried out to gain better insight of the relaxation pathways that may be involved in those two complexes. PMID:26132295

  15. Paramagnetic metal effect on the ligand localized S/sub 1/. -->. T/sub 1/ intersystem crossing in the rare-earth-metal complexes and methyl salicylate

    SciTech Connect

    Tobita, S.; Arakawa, M.; Tanaka, I.

    1985-01-01

    The electronic relaxation processes in the chelates of La/sup 3 +/, Gd/sup 3 +/, Tb/sup 3 +/, and Lu/sup 3 +/ with methyl salicylate have been investigated by measurements of picosecond fluorescence, nanosecond transient absorptions, and quantum yields. The quantum yields of the S/sub 1/ ..-->.. T/sub 1/ intersystem crossing are not appreciably altered by a change in the central metal ions. However, the fluorescence lifetimes are decreased dramatically in the paramagnetic Gd/sup 3 +/ (240 ps) and Tb/sup 3 +/ (<10 ps) complexes compared with those in the diamagnetic La/sup 3 +/ (2.2 ns) and Lu/sup 3 +/ (2.4 ns) complexes. The rate constants derived from these results for the S/sub 1/ ..-->.. T/sub 1/ intersystem crossing, k/sub TM/, in ligands are 5.5 x 10/sup 7/, 7.5 x 10/sup 8/, and 7.9 x 10/sup 7/ s/sup -1/ for the La/sup 3 +/, Gd/sup 3 +/, and Lu/sup 3 +/ complexes, respectively. A large increase of k/sub TM/ is observed in the paramagnetic Gd/sup 3 +/ complexes, which can be attributed to the electron exchange mechanism with ligand ..pi.. electrons. 27 references, 8 figures, 3 tables.

  16. High fluorescence emission of carboxylic acid functionalized polystyrene/BaTiO{sub 3} nanocomposites and rare earth metal complexes: Preparation and characterization

    SciTech Connect

    Cao, X. T.; Showkat, A. M.; Wang, Z.; Lim, K. T.

    2015-03-30

    Noble fluorescence nanocomposite compound based on barium titanate nanoparticles (BTO), polystyrene (PSt), and terbium ion (Tb{sup 3+}) was synthesized by a combination of surface-initiated reversible addition-fragmentation chain transfer (RAFT) polymerization, Friedel-Crafts alkylation reaction and coordinate chemistry. Initially, a modification of surface of BTO was conducted by an exchange process with S-benzyl S’-trimethoxysilylpropyltrithiocarbonate to create macro-initiator for polymerization of styrene. Subsequently, aryl carboxylic acid functionalized polystyrene grafted barium titanate (BTO-g-PSt-COOH) was generated by substitution reaction between 4-(Chloromethyl) benzoic acid and PSt chains. The coordination of the nanohybrids with Tb{sup 3+} ions afforded fluorescent Tb{sup 3+} tagged aryl carboxylic acid functionalized polystyrene grafted barium titanate (BTO-g-PSt-Tb{sup 3+}) complexes. Structure, morphology, and fluorescence properties of nanohybrid complexes were investigated by respective physical and spectral studies. FT-IR and SEM analyses confirmed the formation of BTO-g-PSt-Tb{sup 3+}nanohybrids. Furthermore, TGA profiles demonstrated the grafting of aryl carboxylic acid functionalized polystyrene on BTO surface. Optical properties of BTO-g-PSt-Tb{sup 3+} complexes were investigated by fluorescence spectroscopy.

  17. High fluorescence emission of carboxylic acid functionalized polystyrene/BaTiO3 nanocomposites and rare earth metal complexes: Preparation and characterization

    NASA Astrophysics Data System (ADS)

    Cao, X. T.; Showkat, A. M.; Wang, Z.; Lim, K. T.

    2015-03-01

    Noble fluorescence nanocomposite compound based on barium titanate nanoparticles (BTO), polystyrene (PSt), and terbium ion (Tb3+) was synthesized by a combination of surface-initiated reversible addition-fragmentation chain transfer (RAFT) polymerization, Friedel-Crafts alkylation reaction and coordinate chemistry. Initially, a modification of surface of BTO was conducted by an exchange process with S-benzyl S'-trimethoxysilylpropyltrithiocarbonate to create macro-initiator for polymerization of styrene. Subsequently, aryl carboxylic acid functionalized polystyrene grafted barium titanate (BTO-g-PSt-COOH) was generated by substitution reaction between 4-(Chloromethyl) benzoic acid and PSt chains. The coordination of the nanohybrids with Tb3+ ions afforded fluorescent Tb3+ tagged aryl carboxylic acid functionalized polystyrene grafted barium titanate (BTO-g-PSt-Tb3+) complexes. Structure, morphology, and fluorescence properties of nanohybrid complexes were investigated by respective physical and spectral studies. FT-IR and SEM analyses confirmed the formation of BTO-g-PSt-Tb3+nanohybrids. Furthermore, TGA profiles demonstrated the grafting of aryl carboxylic acid functionalized polystyrene on BTO surface. Optical properties of BTO-g-PSt-Tb3+ complexes were investigated by fluorescence spectroscopy.

  18. Synthesis and characterization of dinuclear rare-earth complexes supported by amine-bridged bis(phenolate) ligands and their catalytic activity for the ring-opening polymerization of l-lactide.

    PubMed

    Duan, Yu-Lai; He, Jia-Xuan; Wang, Wei; Zhou, Jing-Jing; Huang, Yong; Yang, Ying

    2016-06-28

    Reactions of amine-bridged bis(phenolate) protio-ligands N,N-bis(3,5-di-tert-butyl-2-hydroxybenzyl)aminoacetic acid (L(1)-H3) and N,N-bis[3,5-bis(α,α'-dimethylbenzyl)-2-hydroxybenzyl]aminoacetic acid (L(2)-H3), with 1 equiv. M[N(SiMe3)2]3 (M = La, Nd, Sm, Gd, Y) in THF at room temperature yielded the neutral rare-earth complexes [M2(L)2(THF)4] (L = L(1), M = La (), Nd (), Sm (), Gd (), Y (); L = L(2), M = La (), Nd (), Sm (), Gd (), Y ()). All of these complexes were characterized by single-crystal X-ray diffraction, elemental analysis and in the case of yttrium and lanthanum complexes, (1)H NMR spectroscopy. The molecular structure of revealed dinuclear species in which the eight-coordinate lanthanum centers were bonded to two oxygen atoms of two THF molecules, to three oxygen atoms and one nitrogen atom of one L(1) ligand, and two oxygen atoms of the carboxyl group of another. Complexes were also dinuclear species containing seven-coordinate metal centers similar to , albeit with bonding to one rather than two carboxyl group oxygens of another ligand. Further treatment of with excess benzyl alcohol provided dinuclear complex [La2(L(1))2(BnOH)6] (), in which each lanthanum ion is eight-coordinate, bonded to three oxygen atoms and one nitrogen atom of one ligand, three oxygen atoms of three BnOH molecules, as well as one oxygen atom of bridging carboxyl group of the other ligand. In the presence of BnOH, complexes efficiently catalyzed the ring-opening polymerization of l-lactide in a controlled manner and gave polymers with relatively narrow molecular weight distributions. The kinetic and mechanistic studies associated with the ROP of l-lactide using /BnOH initiating system have been performed. PMID:27294827

  19. Synthesis and characterization of dinuclear rare-earth complexes supported by amine-bridged bis(phenolate) ligands and their catalytic activity for the ring-opening polymerization of l-lactide.

    PubMed

    Duan, Yu-Lai; He, Jia-Xuan; Wang, Wei; Zhou, Jing-Jing; Huang, Yong; Yang, Ying

    2016-06-28

    Reactions of amine-bridged bis(phenolate) protio-ligands N,N-bis(3,5-di-tert-butyl-2-hydroxybenzyl)aminoacetic acid (L(1)-H3) and N,N-bis[3,5-bis(α,α'-dimethylbenzyl)-2-hydroxybenzyl]aminoacetic acid (L(2)-H3), with 1 equiv. M[N(SiMe3)2]3 (M = La, Nd, Sm, Gd, Y) in THF at room temperature yielded the neutral rare-earth complexes [M2(L)2(THF)4] (L = L(1), M = La (), Nd (), Sm (), Gd (), Y (); L = L(2), M = La (), Nd (), Sm (), Gd (), Y ()). All of these complexes were characterized by single-crystal X-ray diffraction, elemental analysis and in the case of yttrium and lanthanum complexes, (1)H NMR spectroscopy. The molecular structure of revealed dinuclear species in which the eight-coordinate lanthanum centers were bonded to two oxygen atoms of two THF molecules, to three oxygen atoms and one nitrogen atom of one L(1) ligand, and two oxygen atoms of the carboxyl group of another. Complexes were also dinuclear species containing seven-coordinate metal centers similar to , albeit with bonding to one rather than two carboxyl group oxygens of another ligand. Further treatment of with excess benzyl alcohol provided dinuclear complex [La2(L(1))2(BnOH)6] (), in which each lanthanum ion is eight-coordinate, bonded to three oxygen atoms and one nitrogen atom of one ligand, three oxygen atoms of three BnOH molecules, as well as one oxygen atom of bridging carboxyl group of the other ligand. In the presence of BnOH, complexes efficiently catalyzed the ring-opening polymerization of l-lactide in a controlled manner and gave polymers with relatively narrow molecular weight distributions. The kinetic and mechanistic studies associated with the ROP of l-lactide using /BnOH initiating system have been performed.

  20. Reduced graphene oxide functionalized with a luminescent rare-earth complex for the tracking and photothermal killing of drug-resistant bacteria.

    PubMed

    Yang, Xinjian; Li, Zhenhua; Ju, Enguo; Ren, Jinsong; Qu, Xiaogang

    2014-01-01

    An antibacterial platform based on multifunctional reduced graphene oxide (rGO) that is responsive to near-infrared (NIR) light has been constructed. By introducing a luminescent Eu(3+) complex and vancomycin for bacteria tracking into one system, this platform could specifically recognize and light up bacteria. Antibacterial activity of this nanoscale construction under NIR illumination was investigated. Upon illumination with NIR light, this nanoscale architecture generates great heat locally, resulting in the death of drug-resistant bacteria. These results indicate that the ability of this nanoscale platform to kill drug-resistant bacteria has great potential for clinical pathogenic bacteria diagnosis and treatment.

  1. Trifunctional Polymeric Nanocomposites Incorporated with Fe₃O₄/Iodine-Containing Rare Earth Complex for Computed X-ray Tomography, Magnetic Resonance, and Optical Imaging.

    PubMed

    Wang, Xin; Tu, Mengqi; Yan, Kai; Li, Penghui; Pang, Long; Gong, Ying; Li, Qing; Liu, Ruiqing; Xu, Zushun; Xu, Haibo; Chu, Paul K

    2015-11-11

    In this study, a novel polymerizable CT contrast agent integrating iodine with europium(III) has been developed by a facile and universal coordination chemistry method. The Fe3O4 nanoparticles are then incorporated into this iodine-containing europium complex by seed-emulsifier-free polymerization. The nanocomposites combining the difunctional complex and superparamagnetic Fe3O4 nanoparticles, which have uniform size dispersion and high encapsulation rate, are suitable for computed X-ray tomography (CT), magnetic resonance imaging (MRI), and optical imaging. They possess good paramagnetic properties with a maximum saturation magnetization of 2.16 emu/g and a transverse relaxivity rate of 260 mM(-1) s(-1), and they exhibit obvious contrast effects with an iodine payload less than 4.8 mg I/mL. In the in vivo optical imaging assessment, vivid fluorescent dots can be observed in the liver and spleen by two-photon confocal scanning laser microscopy (CLSM). All the results showed that nanocomposites as polymeric trifunctional contrast agents have great clinical potential in CT, MR, and optical imaging.

  2. Intensive upconversion luminescence of Na-codoped rare-earth oxides with a novel RE-Na heterometallic complex as precursor.

    PubMed

    Zheng, Xiang-Jun; Ablet, Ayjamal; Ng, Christie; Wong, Wing-Tak

    2014-07-01

    Four novel heterometallic RE-Na-organic frameworks, [(RE)Na3(PZTC)2(H2O)4]·2H2O (RE = Yb (1), Ho (2), Er (3), Y (4); PZTC = pyrazine-2,3,5-tricarboxylate), were synthesized via solvothermal reactions and characterized by IR, elemental analysis, and single-crystal X-ray diffraction. The results show that the four complexes are isostructural. In the frameworks, the trinuclear Na cluster and RE ion acting as nodes are bridged by the multifunctional PZTC ligand to give a 3-D framework. Codoping in the frameworks was realized due to their isostructural characteristics. The codoped complexes were calcinated at 800 °C to give rise to the corresponding oxides. Investigation of their photophysical properties shows that the upconversion luminescence (UCL) of the Ho system is green while that of the Er system is red upon excitation at 980 nm. With regard to the luminescence color and intensity, the Er system is preferable to the Ho system for application in bioimaging. Both the red and the green UCL of the Ho(3+) and Er(3+) systems involve a two-photon process. In addition, the UCL mechanism is given. The UCL comparison of Na-doped oxides with non-Na-doped oxides indicates that doping Na can greatly enhance the UCL of the Er system.

  3. Rare Kaon Decays, KEK experiment E391 and E14 at the Japan Physics and Accelerator Research Complex (J-PARC)

    SciTech Connect

    Wah, Yau Wai

    2012-12-06

    The goal of the J-PARC neutral kaon experiment (E14/KOTO) is to discover and measure the rate of the kaon rare decay to pi-zero and two neutrinos. This flavor changing neutral current decay proceeds through second-order weak interactions. Other, as yet undiscovered particles, which can mediate the decay could provide an enhancement (or depletion) to the branching ratio which in the Standard Model is accurately predicted within a few percent to be 2.8x10-11. The experiment is designed to observe more than 100 events at the Standard Model branching. It is a follow-up of the KEK E391a experiment and has stage-2 approval by J-PARC PAC in 2007. E14/KOTO has collaborators from Japan (Kyoto, Osaka, Yamagata, Saga), US (Arizona State, Chicago, Michigan Ann Arbor), Taiwan (National Taiwan), Korea, and Russia (Dubna). The experiment exploits the 300kW 30-50 GeV proton delivery of the J-PARC accelerator with a hermetic high acceptance detector with a fine grained Cesium Iodide (CsI) crystal calorimeter, and state of the art electronic front end and data acquisition system. With the recovery of the tsunami disaster on March 11th 2011, E14 is scheduled to start collecting data in December 2012. During the detector construction phase, Chicago focuses on the front end electronics readout of the entire detector system, particularly the CsI calorimeter. The CsI crystals together with its photomultipliers were previously used at the Fermilab KTeV experiment (E832/E799), and were loaned to E14 via this Chicago DOE support. The new readout electronics includes an innovative 10-pole pulse-shaping technique coupled with high speed digitization (14-bit 125MHz and 12-bit 500MHz). This new instrument enables us to measure both energy and timing, particularly with timing resolution better than 100 psec. Besides the cost saving by elimination of the standard time to digital converters, it is now possible to measure the momenta of the final state photons for additional background suppression

  4. Rare-earth dichloro and bis(alkyl) complexes supported by bulky amido-imino ligand. Synthesis, structure, reactivity and catalytic activity in isoprene polymerization.

    PubMed

    Kissel, Alexander A; Lyubov, Dmitry M; Mahrova, Tatyana V; Fukin, Georgy K; Cherkasov, Anton V; Glukhova, Tatyana A; Cui, Dongmei; Trifonov, Alexander A

    2013-07-01

    A monoanionic amido-imino ligand system [(2,6-iPr2C6H3)N=C(Me)C(=CH2)N(C6H3-2,6-iPr2)](-) was successfully employed for the synthesis of monomeric dichloro [(2,6-iPr2C6H3)N=C(Me)C(=CH2)N(C6H3-2,6-iPr2)]LnCl2(THF)2 (Ln = Y, 2Y; Lu, 2Lu) and bis(alkyl) [(2,6-iPr2C6H3)N=C(Me)C(=CH2)N(C6H3-2,6-iPr2)]Ln(CH2SiMe3)2(THF) (Ln = Y, 4Y; Lu, 4Lu) species of yttrium and lutetium. Dichloro complexes 2Y and 2Lu turned out to be unstable in aromatic solvents. The ligand symmetrization reaction in the case of 2Y affords the yttrium complex coordinated by dianionic [(2,6-iPr2C6H3)NC(=CH2)C(=CH2)N(C6H3-2,6-iPr2)](2-) ligand, (2,6-iPr2C6H3)N=C(Me)C(Me)=N(C6H3-2,6-iPr2) and YCl3. On the contrary, bis(alkyl) species 4Y and 4Lu are rather stable and do not undergo such a transformation or thermal decomposition. The treatment of complex 4Y with DME resulted in C-O bond cleavage and the formation of a dimeric methoxy-alkyl species {[(2,6-iPr2C6H3)N=C(Me)C(=CH2)N(C6H3-2,6-iPr2)]Y(CH2SiMe3)(μ-OMe)}2 (5). The ternary systems 4Ln/AliBu3/borate (borate = [HNMe2Ph][B(C6F5)4] and [CPh3][B(C6F5)4]; molar ratio 1 : 10 : 1) performed high catalytic activity in isoprene polymerization and ability to convert into polymer 1000-5000 equivalents of isoprene in 20-120 min with quantitative conversion. The obtained polyisoprenes possessed high molecular weights (2.9 × 10(4)-4.1 × 10(4)) and moderate polydispersities (2.14-3.52). Predominant 3,4-regioselectivity (up to 78%) was observed.

  5. RAPD of controlled crosses and clones from the field suggests that hybrids are rare in the Salix alba-Salix fragilis complex.

    PubMed

    Triest, L; De Greef, B; De Bondt, R; Van Slycken, J

    2000-05-01

    The polyploid Salix alba-Salix fragilis hybrid complex is rather difficult to study when using only morphological characters. Most of the features have a low diagnostic value for unambiguously identifying the hybrids, introgression patterns and population structures, though morphological traits have proved to be useful in making a hybrid index. Morphology and molecular variation from RAPDs were investigated in several case studies on willows from Belgium. A thorough screening of full-sib progenies of interspecific controlled crosses was made to select homologous amplification products. The selected amplified products proved to be useful in a principal coordinate analysis for the estimation of variability of hybrid progenies. On the basis of genetic similarities and ordination analysis, a method for the identification of clones in the field was established using presumed pure species and presumed introgressants. The chosen reference clones were checked against additional European samples of putative pure species to ensure the reliability of the method beyond a regional scale. The RAPDs suggested that both species have kept their gene pools well separated and that hybridization actually does not seem to be a dominating process. The observation that molecular markers do not always follow the morphological traits or allozyme data is discussed.

  6. The Lombardy Rare Donor Programme

    PubMed Central

    Revelli, Nicoletta; Villa, Maria Antonietta; Paccapelo, Cinzia; Manera, Maria Cristina; Rebulla, Paolo; Migliaccio, Anna Rita; Marconi, Maurizio

    2014-01-01

    Background In 2005, the government of Lombardy, an Italian region with an ethnically varied population of approximately 9.8 million inhabitants including 250,000 blood donors, founded the Lombardy Rare Donor Programme, a regional network of 15 blood transfusion departments coordinated by the Immunohaematology Reference Laboratory of the Ca’ Granda Ospedale Maggiore Policlinico in Milan. During 2005 to 2012, Lombardy funded LORD-P with 14.1 million euros. Materials and methods During 2005–2012 the Lombardy Rare Donor Programme members developed a registry of blood donors and a bank of red blood cell units with either rare blood group phenotypes or IgA deficiency. To do this, the Immunohaematology Reference Laboratory performed extensive serological and molecular red blood cell typing in 59,738 group O or A, Rh CCDee, ccdee, ccDEE, ccDee, K− or k− donors aged 18–55 with a record of two or more blood donations, including both Caucasians and ethnic minorities. In parallel, the Immunohaematology Reference Laboratory implemented a 24/7 service of consultation, testing and distribution of rare units for anticipated or emergent transfusion needs in patients developing complex red blood cell alloimmunisation and lacking local compatible red blood cell or showing IgA deficiency. Results Red blood cell typing identified 8,747, 538 and 33 donors rare for a combination of common antigens, negative for high-frequency antigens and with a rare Rh phenotype, respectively. In June 2012, the Lombardy Rare Donor Programme frozen inventory included 1,157 red blood cell units. From March 2010 to June 2012 one IgA-deficient donor was detected among 1,941 screened donors and IgA deficiency was confirmed in four previously identified donors. From 2005 to June 2012, the Immunohaematology Reference Laboratory provided 281 complex red blood cell alloimmunisation consultations and distributed 8,008 Lombardy Rare Donor Programme red blood cell units within and outside the region

  7. Rare Disorders and Diseases

    ERIC Educational Resources Information Center

    Umlauf, Mary; Monaco, Jana; FitzZaland, Mary; FitzZaland, Richard; Novitsky, Scott

    2008-01-01

    According to the National Organization for Rare Disorders (NORD), a rare or "orphan" disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. "Exceptional Parent" ("EP") recognizes that when a disorder affects a child or adult, it…

  8. Intracomplex {pi}-{pi} stacking interaction between adjacent phenanthroline molecules in complexes with rare-earth nitrates: Crystal and molecular structures of bis(1,10-Phenanthroline)trinitratoytterbium and bis(1,10-Phenanthroline)trinitratolanthanum

    SciTech Connect

    Sadikov, G. G. Antsyshkina, A. S.; Rodnikova, M. N.; Solonina, I. A.

    2009-01-15

    Crystals of the compounds Yb(NO{sub 3}){sub 3}(Phen){sub 2} and La(NO{sub 3}){sub 3}(Phen){sub 2} (Phen = 1,10-phenanthroline) are investigated using X-ray diffraction. It is established that there exist two different crystalline modifications: the main modification (phase 1) is characteristic of all members of the isostructural series, and the second modification (phase 2) is observed only for the Eu, Er, and Yb elements. It is assumed that the stability and universality of main phase 1 are associated with the occurrence of the nonbonded {pi}-{pi} stacking interactions between the adjacent phenanthroline ligands in the complexes. The indication of the interactions is a distortion of the planar shape of the Phen molecule (the folding of the metallocycle along the N-N line with a folding angle of 11{sup o}-13{sup o} and its 'boomerang' distortion). The assumption regarding the {pi}-{pi} stacking interaction is very consistent with the shape of the ellipsoids of atomic thermal vibrations, as well as with the data obtained from thermography and IR spectroscopy. An analysis of the structures of a number of rare-earth compounds has demonstrated that the intracomplex {pi}-{pi} stacking interactions directly contribute to the formation of supramolecular associates in the crystals, such as molecular dimers, supramolecules, chain and layered ensembles, and framework systems.

  9. [Rare diseases from a life insurance perspective].

    PubMed

    Senn, A; Filzmaier, K

    2015-12-01

    A rare disease is defined as a disease that affects a maximum of 5 in 10,000 people. As of today there are roughly 7000 different rare diseases known. On account of this one can say that "rare diseases are rare, but people affected by them are common". For Germany this amounts to: 4 million people that are affected by a rare disease. Diagnosis, therapeutic options and prognosis have substantially improved for some of the rare diseases. Besides the general medical advances--especially in the area of genetics--this is also due to networking and sharing information by so-called Centres of Competence on a national and international scale. This results in a better medical care for the corresponding group of patients. Against this backdrop, the number of people applying for life assurance who are suffering from a complex or rare disease has risen steadily in the last years. Due to the scarce availability of data regarding long-term prognosis of many rare diseases, a biomathematical, medical and actuarial expertise on the part of the insurer is necessary in order to adequately assess the risk of mortality and morbidity. Furthermore there is quite a focus on the issue of rare diseases from not only politics but society as well. Therefore evidence based medical assessment by insurers is especially important in this group of applicants--thinking of legal compliance and reputational risk.

  10. [Rare diseases from a life insurance perspective].

    PubMed

    Senn, A; Filzmaier, K

    2015-12-01

    A rare disease is defined as a disease that affects a maximum of 5 in 10,000 people. As of today there are roughly 7000 different rare diseases known. On account of this one can say that "rare diseases are rare, but people affected by them are common". For Germany this amounts to: 4 million people that are affected by a rare disease. Diagnosis, therapeutic options and prognosis have substantially improved for some of the rare diseases. Besides the general medical advances--especially in the area of genetics--this is also due to networking and sharing information by so-called Centres of Competence on a national and international scale. This results in a better medical care for the corresponding group of patients. Against this backdrop, the number of people applying for life assurance who are suffering from a complex or rare disease has risen steadily in the last years. Due to the scarce availability of data regarding long-term prognosis of many rare diseases, a biomathematical, medical and actuarial expertise on the part of the insurer is necessary in order to adequately assess the risk of mortality and morbidity. Furthermore there is quite a focus on the issue of rare diseases from not only politics but society as well. Therefore evidence based medical assessment by insurers is especially important in this group of applicants--thinking of legal compliance and reputational risk. PMID:26775306

  11. A rare case of a three way complex variant positive Philadelphia translocation involving chromosome (9;11;22)(q34;p15;q11) in chronic myeloid leukemia: A case report

    PubMed Central

    Asif, Muhammad; Hussain, Abrar; Rasool, Mahmood

    2016-01-01

    The t(9;22)(q34;q11) translocation is present in 90–95% of patients with chronic myeloid leukemia (CML). Variant complex translocations have been observed in 5–8% of CML patients, in which a third chromosome other than (9;22) is involved. Imatinib mesylate is the first line breakpoint cluster region-Abelson gene (BCR/ABL)-targeted oral therapy for CML, and may produce a complete response in 70–80% of CML patients in the chronic phase. In the present study, a bone marrow sample was used for conventional cytogenetic analysis, and the fluorescence in situ hybridization (FISH) test was used for BCR/ABL gene detection. A hematological analysis was also performed to determine the white blood cell (WBC) count, red blood cell count, hemoglobin levels, packed and mean cell volumes, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration and platelet values of the patient. The hematological analysis of the patient indicated the increased WBC of 186.5×103 cells/µl, and decreased hemoglobin levels of 11.1 g/dl. The FISH test revealed that 67% cells demonstrated BCR/ABL gene translocation. The patient was treated with 400 mg imatinib mesylate daily, and was monitored at various intervals over a 6-month period. The present study reports the rare case of a patient that demonstrates a three-way Philadelphia chromosome-positive translocation involving 46XY,t(9;11;22)(q34;p15;q11)[10], alongside CML in the chronic phase. The translocation was analyzed using cytogenetic and FISH tests.

  12. A rare case of a three way complex variant positive Philadelphia translocation involving chromosome (9;11;22)(q34;p15;q11) in chronic myeloid leukemia: A case report

    PubMed Central

    Asif, Muhammad; Hussain, Abrar; Rasool, Mahmood

    2016-01-01

    The t(9;22)(q34;q11) translocation is present in 90–95% of patients with chronic myeloid leukemia (CML). Variant complex translocations have been observed in 5–8% of CML patients, in which a third chromosome other than (9;22) is involved. Imatinib mesylate is the first line breakpoint cluster region-Abelson gene (BCR/ABL)-targeted oral therapy for CML, and may produce a complete response in 70–80% of CML patients in the chronic phase. In the present study, a bone marrow sample was used for conventional cytogenetic analysis, and the fluorescence in situ hybridization (FISH) test was used for BCR/ABL gene detection. A hematological analysis was also performed to determine the white blood cell (WBC) count, red blood cell count, hemoglobin levels, packed and mean cell volumes, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration and platelet values of the patient. The hematological analysis of the patient indicated the increased WBC of 186.5×103 cells/µl, and decreased hemoglobin levels of 11.1 g/dl. The FISH test revealed that 67% cells demonstrated BCR/ABL gene translocation. The patient was treated with 400 mg imatinib mesylate daily, and was monitored at various intervals over a 6-month period. The present study reports the rare case of a patient that demonstrates a three-way Philadelphia chromosome-positive translocation involving 46XY,t(9;11;22)(q34;p15;q11)[10], alongside CML in the chronic phase. The translocation was analyzed using cytogenetic and FISH tests. PMID:27602125

  13. Ecology and exploration of the rare biosphere.

    PubMed

    Lynch, Michael D J; Neufeld, Josh D

    2015-04-01

    The profound influence of microorganisms on human life and global biogeochemical cycles underlines the value of studying the biogeography of microorganisms, exploring microbial genomes and expanding our understanding of most microbial species on Earth: that is, those present at low relative abundance. The detection and subsequent analysis of low-abundance microbial populations—the 'rare biosphere'—have demonstrated the persistence, population dynamics, dispersion and predation of these microbial species. We discuss the ecology of rare microbial populations, and highlight molecular and computational methods for targeting taxonomic 'blind spots' within the rare biosphere of complex microbial communities.

  14. A rare opportunity beckons

    SciTech Connect

    Gschneidner, K

    2011-02-01

    There is a great deal of uncertainty for the future of rare-earth production. Rare-earths are a collection of 17 chemical elements in the periodic table, which include scandium and yttrium as well as the 15 lanthanides, such as dysprosium and ytterbium. China has a stranglehold on today's rare-earth market, which was worth about $3bn in 2010, with the country accounting for about 95% of worldwide production. Yet China's future actions can only be guessed at best. In September it halted shipments of rare-earth elements to Japan over a diplomatic spat concerning the detention of a Chinese trawler captain. Although the ban was later lifted, the episode raised concerns around the world about China's rare-earth monopoly and its use in diplomacy. China has already warned that it will not export any rare-earth material in the coming years as it expects its own consumption of rare-earth metals to increase. The country has introduced export taxes as well as production and export quotas, and also refused to grant any new rare-earth mining licences. Furthermore, because its reserves are limited and China's internal markets are growing so rapidly, the country has suggested it will no longer export products that require rare-earth elements, especially those that need heavy rare-earth elements, such as terbium and dysprosium. China's actions have led to huge rises in the cost of rare-earth materials and products. Dysprosium oxide, for example, has shot up from $36 per kilogram in 2005 to a massive $305 per kilogram by late last year. This could have a huge impact on much of today's electronics industry, given that rare-earth elements are ubiquitous in electric motors, computers, batteries, liquid-crystal displays (LCDs) and mobile phones. Neodymium-iron-boron permanent magnets, for example, are used as computer spindle drives. The question is: what can be done to ensure that China's dominance of the rare-earth industry does not affect the military and energy security of the US

  15. Tetranuclear hetero-metal [Co(II)2Ln(III)2] (Ln = Gd, Tb, Dy, Ho, La) complexes involving carboxylato bridges in a rare μ4-η(2):η(2) mode: synthesis, crystal structures, and magnetic properties.

    PubMed

    Abtab, Sk Md Towsif; Majee, Mithun Chandra; Maity, Manoranjan; Titiš, Ján; Boča, Roman; Chaudhury, Muktimoy

    2014-02-01

    A new family of 3d-4f heterometal 2 × 2 complexes [Co(II)2(L)2(PhCOO)2Ln(III)2(hfac)4] (1-5) (Ln = Gd (compound 1), Tb (compound 2), Dy (compound 3), Ho (compound 4), and La (compound 5)) have been synthesized in moderate yields (48-63%) following a single-pot protocol using stoichiometric amounts (1:1 mol ratio) of [Co(II)(H2L)(PhCOO)2] (H2L = N,N'-dimethyl-N,N'-bis(2-hydroxy-3,5-dimethylbenzyl)ethylenediamine) as a metalloligand and [Ln(III)(hfac)3(H2O)2] (Hhfac = hexafluoroacetylacetone) as a lanthanide precursor compound. Also reported with this series is the Zn-Dy analog [Zn(II)2(L)2(PhCOO)2Dy(III)2(hfac)4] 6 to help us in understanding the magnetic properties of these compounds. The compounds 1-6 are isostructural. Both hexafluoroacetylacetonate and benzoate play crucial roles in these structures as coligands in generating a tetranuclear core of high thermodynamic stability through a self-assembly process. The metal centers are arranged alternately at the four corners of this rhombic core, and the carboxylato oxygen atoms of each benzoate moiety bind all of the four metal centers of this core in a rare μ4-η(2):η(2) bridging mode as confirmed by X-ray crystallography. The magnetic susceptibility and magnetization data confirm a paramagnetic behavior, and no remnant magnetization exists in any of these compounds at vanishing magnetic field. The metal centers are coupled in an antiferromagnetic manner in these compounds. The [Co(II)2Dy(III)2] compound exhibits a slow magnetic relaxation below 6 K, as proven by the AC susceptibility measurements; the activation energy reads U/kB = 8.8 K (τ0 = 2.0 × 10(-7) s) at BDC = 0, and U/kB = 7.8 K (τ0 = 3.9 × 10(-7) s) at BDC = 0.1 T. The [Zn(II)2Dy(III)2] compound also behaves as a single-molecule magnet with U/kB = 47.9 K and τ0 = 2.75 × 10(-7) s.

  16. Complex evolutionary patterns of two rare human G3P[9] rotavirus strains possessing a feline/canine-like H6 genotype on an AU-1-like genotype constellation.

    PubMed

    Wang, Yuan-Hong; Pang, Bei-Bei; Zhou, Xuan; Ghosh, Souvik; Tang, Wei-Feng; Peng, Jin-Song; Hu, Quan; Zhou, Dun-Jin; Kobayashi, Nobumichi

    2013-06-01

    The group A rotavirus (RVA) G3P[9] is a rare VP7-VP4 genotype combination, detected occasionally in humans and cats. Other than the prototype G3P[9] strain, RVA/Human- tc/JPN/AU-l/1982/G3P3[9], the whole genomes of only two human G3P[9] RVA strains and two feline G3P[9] RVA strains have been analyzed so far, revealing complex evolutionary patterns, distinct from that of AU-1. We report here the whole genomic analyses of two human G3P[9] RVA strains, RVA/Human-tc/CHN/L621/2006/G3P[9] and RVA/Human-wt/CHN/E2451/2011/G3P[9], detected in patients with diarrhea in China. Strains L621 and E2451 possessed a H6 NSP5 genotype on an AU-1-like genotype constellation, not reported previously. However, not all the genes of L621 and E2451 were closely related to those of AU-1, or to each other, revealing different evolutionary patterns among the AU-1-like RVAs. The VP7, VP4, VP6 and NSP4 genes of E2451 and L621 were found to cluster together with human G3P[9] RVA strains believed to be of possible feline/canine origin, and feline or raccoon dog RVA strains. The VP1, VP3, NSP2 and NSP5 genes of E2451 and L621 formed distinct clusters in genotypes typically found in feline/canine RVA strains or RVA strains from other host species which are believed to be of feline/canine RVA origin. The VP2 genes of E2451 and L621, and NSP3 gene of L621 clustered among RVA strains from different host species which are believed to have a complete or partial feline/canine RVA origin. The NSP1 genes of E2451 and L621, and NSP3 gene of E2451 clustered with AU-1 and several other strains possessing a complete or partial feline RVA strain BA222-05-like genotype constellation. Taken together, these observations suggest that nearly all the eleven gene segments of G3P[9] RVA strains L621 and E2451 might have originated from feline/canine RVAs, and that reassortments may have occurred among these feline/canine RVA strains, before being transmitted to humans.

  17. Complex evolutionary patterns of two rare human G3P[9] rotavirus strains possessing a feline/canine-like H6 genotype on an AU-1-like genotype constellation.

    PubMed

    Wang, Yuan-Hong; Pang, Bei-Bei; Zhou, Xuan; Ghosh, Souvik; Tang, Wei-Feng; Peng, Jin-Song; Hu, Quan; Zhou, Dun-Jin; Kobayashi, Nobumichi

    2013-06-01

    The group A rotavirus (RVA) G3P[9] is a rare VP7-VP4 genotype combination, detected occasionally in humans and cats. Other than the prototype G3P[9] strain, RVA/Human- tc/JPN/AU-l/1982/G3P3[9], the whole genomes of only two human G3P[9] RVA strains and two feline G3P[9] RVA strains have been analyzed so far, revealing complex evolutionary patterns, distinct from that of AU-1. We report here the whole genomic analyses of two human G3P[9] RVA strains, RVA/Human-tc/CHN/L621/2006/G3P[9] and RVA/Human-wt/CHN/E2451/2011/G3P[9], detected in patients with diarrhea in China. Strains L621 and E2451 possessed a H6 NSP5 genotype on an AU-1-like genotype constellation, not reported previously. However, not all the genes of L621 and E2451 were closely related to those of AU-1, or to each other, revealing different evolutionary patterns among the AU-1-like RVAs. The VP7, VP4, VP6 and NSP4 genes of E2451 and L621 were found to cluster together with human G3P[9] RVA strains believed to be of possible feline/canine origin, and feline or raccoon dog RVA strains. The VP1, VP3, NSP2 and NSP5 genes of E2451 and L621 formed distinct clusters in genotypes typically found in feline/canine RVA strains or RVA strains from other host species which are believed to be of feline/canine RVA origin. The VP2 genes of E2451 and L621, and NSP3 gene of L621 clustered among RVA strains from different host species which are believed to have a complete or partial feline/canine RVA origin. The NSP1 genes of E2451 and L621, and NSP3 gene of E2451 clustered with AU-1 and several other strains possessing a complete or partial feline RVA strain BA222-05-like genotype constellation. Taken together, these observations suggest that nearly all the eleven gene segments of G3P[9] RVA strains L621 and E2451 might have originated from feline/canine RVAs, and that reassortments may have occurred among these feline/canine RVA strains, before being transmitted to humans. PMID:23403096

  18. Collecting rare diseases

    PubMed Central

    Ekins, Sean

    2014-01-01

    This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies, NIH, and the FDA. Our intention is to provide a forum for discussion and dissemination of any rare disease related topics that will advance scientific understanding and progress to treatments. PMID:25580231

  19. Medical rare book provenance.

    PubMed Central

    Overmier, J A; Sentz, L

    1987-01-01

    Provenance is defined as the record of a book's ownership history. Its value and uses are explored. A survey of provenance practices in medical school rare book libraries found that only 21% of the reporting libraries maintain this important file. Examples of the uses and value of a provenance file in a medical rare book collection are presented. Decisions necessary to institute and maintain such a file are outlined and discussed. PMID:3828606

  20. Rare Diseases Clinical Research Network

    MedlinePlus

    ... RDCRN? Aims of the Rare Diseases Clinical Research Network Contact Us RDCRN Members Login Accessibility Disclaimer The Rare Diseases Clinical Research Network is an initiative of the Office of Rare ...

  1. What is complex about complex disorders?

    PubMed Central

    2012-01-01

    Rather than being polygenic, complex disorders probably represent umbrella terms for collections of conditions caused by rare, recent mutations in any of a large number of different genes. PMID:22269335

  2. A rare splenic pseudocyst

    PubMed Central

    Verma, Ankit; Yadav, Amit; Sharma, Sourabh; Saini, Devender; Om, Prabha; Khoja, Hanuman; Banerjee, Kinjal; NL, Harish

    2013-01-01

    Pseudocysts of the spleen are very rare, found in <1% of the splenectomies done and usually develop secondary to trauma. Pseudocysts of spleen rarely grow to large size and most of these remain asymptomatic, they require exploration only in symptomatic cases and chances for spleen preservation in these cases are usually less. Here, we present two cases of this rare entity developing secondary to abdominal trauma in the past, both presented with complaints of pain and lump in the abdomen. After thorough investigations, laparotomy was done preserving spleen in one case and doing splenectomy in the other. On histopathological examination, diagnosis of splenic pseudocysts was confirmed by the absence of lining epithelium. We would like to report these two cases because of their rarity and as diagnostic dilemmas. PMID:24963908

  3. A rare splenic pseudocyst.

    PubMed

    Verma, Ankit; Yadav, Amit; Sharma, Sourabh; Saini, Devender; Om, Prabha; Khoja, Hanuman; Banerjee, Kinjal; Nl, Harish

    2013-01-01

    Pseudocysts of the spleen are very rare, found in <1% of the splenectomies done and usually develop secondary to trauma. Pseudocysts of spleen rarely grow to large size and most of these remain asymptomatic, they require exploration only in symptomatic cases and chances for spleen preservation in these cases are usually less. Here, we present two cases of this rare entity developing secondary to abdominal trauma in the past, both presented with complaints of pain and lump in the abdomen. After thorough investigations, laparotomy was done preserving spleen in one case and doing splenectomy in the other. On histopathological examination, diagnosis of splenic pseudocysts was confirmed by the absence of lining epithelium. We would like to report these two cases because of their rarity and as diagnostic dilemmas. PMID:24963908

  4. Rare Jejunal Diverticular Bleeding

    PubMed Central

    Christman, Emily; Hassell, Lewis A.; Kastens, Donald

    2016-01-01

    Severe gastrointestinal bleeding (GIB) secondary to jejunal diverticulosis (JD) is very rare. Delay in establishing a diagnosis is common and GIB from JD is associated with significant morbidity and mortality. We report an illustrative case diagnosed by push enteroscopy and managed with surgery. PMID:27800518

  5. The rare bacterial biosphere.

    PubMed

    Pedrós-Alió, Carlos

    2012-01-01

    All communities are dominated by a few species that account for most of the biomass and carbon cycling. On the other hand, a large number of species are represented by only a few individuals. In the case of bacteria, these rare species were until recently invisible. Owing to their low numbers, conventional molecular techniques could not retrieve them. Isolation in pure culture was the only way to identify some of them, but current culturing techniques are unable to isolate most of the bacteria in nature. The recent development of fast and cheap high-throughput sequencing has begun to allow access to the rare species. In the case of bacteria, the exploration of this rare biosphere has several points of interest. First, it will eventually produce a reasonable estimate of the total number of bacterial taxa in the oceans; right now, we do not even know the right order of magnitude. Second, it will answer the question of whether "everything is everywhere." Third, it will require hypothesizing and testing the ecological mechanisms that allow subsistence of many species in low numbers. And fourth, it will open an avenue of research into the immense reserve of genes with potential applications hidden in the rare biosphere.

  6. Endangered Species: Wild & Rare.

    ERIC Educational Resources Information Center

    Braus, Judy, Ed.

    1987-01-01

    Ranger Rick's NatureScope is a creative education series dedicated to inspiring in children an understanding and appreciation of the natural world while developing the skills they will need to make responsible decisions about the environment. The topic of this issue is "Endangered Species: Wild and Rare." Contents are organized into the following…

  7. Rare Copy Number Variants

    PubMed Central

    Grozeva, Detelina; Kirov, George; Ivanov, Dobril; Jones, Ian R.; Jones, Lisa; Green, Elaine K.; St Clair, David M.; Young, Allan H.; Ferrier, Nicol; Farmer, Anne E.; McGuffin, Peter; Holmans, Peter A.; Owen, Michael J.; O’Donovan, Michael C.; Craddock, Nick

    2015-01-01

    Context Recent studies suggest that copy number variation in the human genome is extensive and may play an important role in susceptibility to disease, including neuropsychiatric disorders such as schizophrenia and autism. The possible involvement of copy number variants (CNVs) in bipolar disorder has received little attention to date. Objectives To determine whether large (>100 000 base pairs) and rare (found in <1% of the population) CNVs are associated with susceptibility to bipolar disorder and to compare with findings in schizophrenia. Design A genome-wide survey of large, rare CNVs in a case-control sample using a high-density microarray. Setting The Wellcome Trust Case Control Consortium. Participants There were 1697 cases of bipolar disorder and 2806 nonpsychiatric controls. All participants were white UK residents. Main Outcome Measures Overall load of CNVs and presence of rare CNVs. Results The burden of CNVs in bipolar disorder was not increased compared with controls and was significantly less than in schizophrenia cases. The CNVs previously implicated in the etiology of schizophrenia were not more common in cases with bipolar disorder. Conclusions Schizophrenia and bipolar disorder differ with respect to CNV burden in general and association with specific CNVs in particular. Our data are consistent with the possibility that possession of large, rare deletions may modify the phenotype in those at risk of psychosis: those possessing such events are more likely to be diagnosed as having schizophrenia, and those without them are more likely to be diagnosed as having bipolar disorder. PMID:20368508

  8. [Rare metabolic diseases].

    PubMed

    Wendel, U; Burgard, P

    2007-12-01

    Rare metabolic diseases are chronic, progressive, present frequently with a life-threatening course and may result in severe handicaps. They demand high diagnostic and therapeutic standards and efforts from physicians and patients. The challenge for society and health systems in dealing with patients affected by one of these diseases is to offer comprehensive service by a multi-professional team of specialists and evidence-based as well as economic (i.e. necessary, sufficient and effective) treatment. Patients and families should be treated in specialized metabolic centres guaranteeing continuous improvement of the scientific and clinical principles of treatment, standardized outcome evaluation, strict quality assurance as well as optimal psychosocial care and counselling. Networking of national and international metabolic centres seems imperative for clinical research in the field of rare metabolic diseases in order to provide adequate sample sizes and to yield substantial results.

  9. Rare earth thermoelectrics

    SciTech Connect

    Mahan, G.D.

    1997-09-01

    The author reviews the thermoelectric properties of metallic compounds which contain rare-earth atoms. They are the group of metals with the largest value ever reported of the Seebeck coefficient. An increase by 50% of the Seebeck would make these compounds useful for thermoelectric devices. The largest Seebeck coefficient is found for compounds of cerium (e.g., CePd{sub 3}) and ytterbium (e.g., YbAl{sub 3}). Theoretical predictions are in agreement with the maximum observed Seebeck. The author discusses the theoretical model which has been used to calculate the Seebeck coefficient. He is solving this model for other configurations (4f){sup n} of rare-earth ground states.

  10. Rare Isotope Accelerators

    NASA Astrophysics Data System (ADS)

    Savard, Guy

    2002-04-01

    The next frontier for low-energy nuclear physics involves experimentation with accelerated beams of short-lived radioactive isotopes. A new facility, the Rare Isotope Accelerator (RIA), is proposed to produce large amount of these rare isotopes and post-accelerate them to energies relevant for studies in nuclear physics, astrophysics and the study of fundamental interactions at low energy. The basic science motivation for this facility will be introduced. The general facility layout, from the 400 kW heavy-ion superconducting linac used for production of the required isotopes to the novel production and extraction schemes and the highly efficient post-accelerator, will be presented. Special emphasis will be put on a number of technical breakthroughs and recent R&D results that enable this new facility.

  11. Rare Decays at LHCb

    NASA Astrophysics Data System (ADS)

    Hall, Sam

    2014-04-01

    Rare decays of beauty and charm hadrons provide an effective method of testing the Standard Model and probing possible new physics scenarios. The LHCb experiment has published a variety of interesting results in this field, some of which are presented here. In particular the measurements of the branching fractions of B(s)0 → μ+μ- which, in combination with CMS, resulted in the first observation of the Bs0 → μ+μ- decay. Other topics include searches for the rare decay D0 → μ+μ-, the lepton flavour violating decays B(s)0 → e±μ∓, and the observation of the ψ(4160) resonance in the region of low recoil in B+ → K+μ+μ- decay. New results on the angular analysis of the decay B0 → K*0μ+μ- with form factor independent observables are also shown.

  12. Rare causes of osteoporosis

    PubMed Central

    Marcucci, Gemma; Brandi, Maria Luisa

    2015-01-01

    Summary Osteoporosis is a metabolic bone disease characterized by loss of bone mass and strength, resulting in increased risk of fractures. It is classically divided into primary (post-menopausal or senile), secondary and idiopathic forms. There are many rare diseases, that cause directly or indirectly osteoporosis. The identification and classification of most of these rare causes of osteoporosis is crucial for the specialists in endocrinology and not, in order to prevent this bone complication and to provide for an early therapy. Several pathogenic mechanisms are involved, including various aspects of bone metabolism such as: decreased bone formation, increased bone resorption, altered calcium, phosphorus and/or vitamin D homeostasis, and abnormal collagen synthesis. In this review, less common forms of primary and secondary osteoporosis are described, specifying, if applicable: genetic causes, epidemiology, clinical features, and pathogenic mechanisms causing osteoporosis. A greater awareness of all rare causes of osteoporosis could reduce the number of cases classified as idiopathic osteoporosis and allow the introduction of appropriate and timely treatments. PMID:26604941

  13. [Dextrocardia with situ solitus, ventricular loop, double outlet hypoplastic right ventricle and L-malposition of the great arteries. Description and surgical treatment of a rare and complex cardiopathy].

    PubMed

    Fraisse, A; Ghez, O; Ligi, I; Laporte-Giugliano, V; Chetaille, P; Bonnet, J L; Aubert, F; Metras, D

    2002-05-01

    Despite the cardiac surgery improvements allowing the correction of the majority of congenital heart diseases with ventricle-great vessels discontinuity, some abnormalities increase the risk of bi-ventricular reparation. We herein report the case of a patient presenting a rare form of double outlet right ventricle with a ventricular loop, with moderate right ventricle hypoplasia. L-malposition of great vessels and pulmonary artery stenosis, and for whom we opted for a palliative surgical treatment including a systemic-pulmonary anastomosis followed by a upper right bi-directional cavo-pulmonary derivation. The last surgery was followed by recurrent right pleural effusions disappearing after the embolization of the systemic-pulmonary anastomosis by catheterism as it probably obstructed the draining of the cavo-pulmonary anastomosis. The relevance of this clinical case reported is, firstly the description of this ventricle loop resulted from a marked ventricular malposition which is a rare heart disease, and secondly the discussion about the surgical treatment, especially about the choice between palliative and curative surgery. Only comparative studies on long term morbidity and mortality between the bi-ventricular reparation and mono-ventricular palliation will allow the selection of the most appropriate surgical treatment.

  14. Rare neurological diseases: a practical approach to management.

    PubMed

    Dani, Krishna A; Murray, Lesley J; Razvi, Saif

    2013-08-01

    Although neurologists are frequently faced with the management of rare diseases, there is little generic guidance for the approach to management. There are complexities with respect to diagnosis, counselling, treatment and monitoring which are idiosyncratic to rare diseases. Here we use a case report as the basis for discussion of the management of rare neurological diseases. We discuss current issues, guidance from regulatory bodies, and offer practical tips for diagnosis, treatment and monitoring, including the use of decision tree analysis. We offer a generic algorithm to aid neurologists when facing rare conditions.

  15. Culturing captures members of the soil rare biosphere.

    PubMed

    Shade, Ashley; Hogan, Clifford S; Klimowicz, Amy K; Linske, Matthew; McManus, Patricia S; Handelsman, Jo

    2012-09-01

    The ecological significance of rare microorganisms within microbial communities remains an important, unanswered question. Microorganisms of extremely low abundance (the 'rare biosphere') are believed to be largely inaccessible and unknown. To understand the structure of complex environmental microbial communities, including the representation of rare and prevalent community members, we coupled traditional cultivation with pyrosequencing. We compared cultured and uncultured bacterial members of the same agricultural soil, including eight locations within one apple orchard and four time points. Our analysis revealed that soil bacteria captured by culturing were in very low abundance or absent in the culture-independent community, demonstrating unexpected accessibility of the rare biosphere by culturing.

  16. Rare B Decays

    SciTech Connect

    Jackson, P.D.; /Victoria U.

    2006-02-24

    Recent results from Belle and BaBar on rare B decays involving flavor-changing neutral currents or purely leptonic final states are presented. Measurements of the CP asymmetries in B {yields} K*{gamma} and b {yields} s{gamma} are reported. Also reported are updated limits on B{sup +} {yields} K{sup +}{nu}{bar {nu}}, B{sup +} {yields} {tau}{sup +}{nu}, B{sup +} {yields} {mu}{sup +}{nu} and the recent measurement of B {yields} X{sub s}{ell}{sup +}{ell}{sup -}.

  17. Ames Lab 101: Rare Earths

    SciTech Connect

    Gschneidner, Karl

    2010-01-01

    "Mr. Rare Earth," Ames Laboratory scientist Karl Gschneidner Jr., explains the importance of rare-earth materials in many of the technologies we use today -- ranging from computers to hybrid cars to wind turbines. Gschneidner is a world renowned rare-earths expert at the U.S. Department of Energy's Ames Laboratory.

  18. Ames Lab 101: Rare Earths

    ScienceCinema

    Gschneidner, Karl

    2016-07-12

    "Mr. Rare Earth," Ames Laboratory scientist Karl Gschneidner Jr., explains the importance of rare-earth materials in many of the technologies we use today -- ranging from computers to hybrid cars to wind turbines. Gschneidner is a world renowned rare-earths expert at the U.S. Department of Energy's Ames Laboratory.

  19. Rarely seen infections.

    PubMed

    Amer, Mohamed; Amer, Amin

    2014-01-01

    There are many rare cutaneous infections of the face. This phrase seems irrelevant, because rare infections in certain parts of the world are common in others. This is more apparent if applied to different sites of the body (eg, face). For instance, cutaneous leishmaniasis (CL) is common in Central and South America and uncommon in the United States. Because most medical practitioners in this country have never seen a case, it is easy for them to miss a diagnosis. Cutaneous leishmaniasis, a protozoan infection transmitted by phlebotomine sand flies, is typically divided into two forms: one found in the Middle East, Asia, Africa, and southern Europe, called Old World leishmaniasis, and one found in Latin and Central America, called New World leishmaniasis. Also atypical mycobacterial infection has been described in the medical literature since the mid-1950s. The development and introduction of a rapid radiometric mycobacterial detection system has advanced the field of mycobacteriology over the past 20 years. This method has allowed the distinction of Mycobacterium tuberculosis from other mycobacteria and enabled the performance of antimicrobial susceptibility testing of mycobacteria. The increased frequency of atypical mycobacterial infection stems from advances in the diagnostic procedures concerning the infection paired with the prevalence of mycobacterial disease in immunocompromised patients infected with HIV. Erysipelas and facial cellulitis are covered briefly in this paper.

  20. The rare-RI ring

    NASA Astrophysics Data System (ADS)

    Ozawa, A.; Uesaka, T.; Wakasugi, M.; Rare-RI Ring Collaboration

    2012-12-01

    We describe the rare-RI (radioactive isotope) ring at the RI Beam Factory (RIBF). The main purpose of the rare-RI ring is to measure the mass of very neutron-rich nuclei, the production rates of which are very small (hence ‘rare RI’) and the lifetimes of which are predicted to be very short. In the rare-RI ring, there are two innovative pieces of apparatus: individual injection, which can realize the injection of 200 A MeV rare RIs one by one, and a cyclotron-like storage ring, which allows high isochronous magnetic fields with large angular and momentum acceptances. With these devices, we will achieve a 10-6 mass resolution, and will be able to access rare RIs, the production rate of which is down to 1 event/day/pnA. Construction of the rare-RI ring started in fiscal year 2012.

  1. The structure and stability of aqueous rare-earth elements in hydrothermal fluids: New results on neodymium(III) aqua and chloroaqua complexes in aqueous solutions to 500 °C and 520 MPa

    USGS Publications Warehouse

    Mayanovic, Robert A.; Anderson, Alan J.; Bassett, William A.; Chou, I.-Ming

    2009-01-01

    X-ray absorption spectroscopy (XAS) measurements were made at the Nd L3-edge on neodymium(III) aqua and chloroaqua complexes in low pH aqueous solutions from 25 to 500????C and up to 520??MPa. Analysis of the extended X-ray absorption fine structure of the XAS spectra measured from a 0.07??m Nd/0.16??m HNO3 aqueous solution reveals a contraction of the Nd-O distance of the Nd3+ aqua ion at a uniform rate of ~ 0.013????/100????C and a uniform reduction of the number of coordinated H2O molecules from 10.0 ?? 0.9 to 7.4 ?? 0.9 over the range from 25 to 500????C and up to 370??MPa. The rate of reduction of the first-shell water molecules with temperature for Nd3+ (26%) is intermediate between the rate for the Gd3+ aqua ion (22% from 25 to 500????C) and the rates for the Eu3+ (29% from 25 to 400????C) and the Yb3+ aqua ions (42% from 25 to 500????C) indicating an intermediate stability of the Nd3+ aqua ion consistent with the tetrad effect. Nd L3-edge XAS measurements of 0.05??m NdCl3 aqueous solution at 25 to 500????C and up to 520??MPa show that stepwise inner-sphere complexes most likely of the type Nd(H2O)?? - nCln+3 - n occur in the solution at elevated temperatures, where ?? ??? 9 at 150????C decreasing to ~ 6 at 500????C and the number of chloride ions (n) of the chloroaqua complexes increases uniformly with temperature from 1.2 ?? 0.2 to 2.0 ?? 0.2 in the solution upon increase of temperature from 150 to 500????C. Conversely, the number of H2O ligands of Nd(H2O)?? - nCln+3 - n complexes is uniformly reduced with temperature from 7.5 ?? 0.8 to 3.7 ?? 0.3 in the aqueous solution, in the same temperature range. These data show greater stability of neodymium(III) than gadolinium(III) and ytterbium(III) chloride complexes in low pH aqueous solutions at elevated temperatures. Our data suggest a greater stability of aqueous light REE than that of heavy REE chloride complexes in low pH fluids at elevated temperatures consistent with REE analysis of fluids from deep

  2. A Rare Stapes Abnormality

    PubMed Central

    Kanona, Hala; Virk, Jagdeep Singh; Kumar, Gaurav; Chawda, Sanjiv; Khalil, Sherif

    2015-01-01

    The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50 dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively. PMID:25628909

  3. The structure and stability of aqueous rare-earth elements in hydrothermal fluids: New results on neodymium(III) aqua and chloroaqua complexes in aqueous solutions to 500 °C and 520 MPa

    SciTech Connect

    Mayanovic, R.A.; Anderson, A.J.; Bassett, W.A.; Chou, I.-M.

    2009-02-04

    X-ray absorption spectroscopy (XAS) measurements were made at the Nd L{sub 3}-edge on neodymium(III) aqua and chloroaqua complexes in low pH aqueous solutions from 25 to 500 C and up to 520 MPa. Analysis of the extended X-ray absorption fine structure of the XAS spectra measured from a 0.07 m Nd/0.16 m HNO{sub 3} aqueous solution reveals a contraction of the Nd-O distance of the Nd{sup 3+} aqua ion at a uniform rate of {approx} 0.013 {angstrom}/100 C and a uniform reduction of the number of coordinated H{sub 2}O molecules from 10.0 {+-} 0.9 to 7.4 {+-} 0.9 over the range from 25 to 500 C and up to 370 MPa. The rate of reduction of the first-shell water molecules with temperature for Nd{sup 3+} (26%) is intermediate between the rate for the Gd{sup 3+} aqua ion (22% from 25 to 500 C) and the rates for the Eu{sup 3+} (29% from 25 to 400 C) and the Yb{sup 3+} aqua ions (42% from 25 to 500 C) indicating an intermediate stability of the Nd{sup 3+} aqua ion consistent with the tetrad effect. Nd L{sub 3}-edge XAS measurements of 0.05 m NdCl{sub 3} aqueous solution at 25 to 500 C and up to 520 MPa show that stepwise inner-sphere complexes most likely of the type Nd(H{sub 2}O){sub {delta}-n}Cl{sub n}{sup +3-n} occur in the solution at elevated temperatures, where {delta} {approx} 9 at 150 C decreasing to {approx} 6 at 500 C and the number of chloride ions (n) of the chloroaqua complexes increases uniformly with temperature from 1.2 {+-} 0.2 to 2.0 {+-} 0.2 in the solution upon increase of temperature from 150 to 500 C. Conversely, the number of H{sub 2}O ligands of Nd(H{sub 2}O){sub {delta}-n}Cl{sub n}{sup +3-n} complexes is uniformly reduced with temperature from 7.5 {+-} 0.8 to 3.7 {+-} 0.3 in the aqueous solution, in the same temperature range. These data show greater stability of neodymium(III) than gadolinium(III) and ytterbium(III) chloride complexes in low pH aqueous solutions at elevated temperatures. Our data suggest a greater stability of aqueous light REE than

  4. Synthesis, crystal structure and magnetic properties of three unprecedented tri-nuclear and one very rare tetra-nuclear copper(II) Schiff-base complexes supported by mixed azido/phenoxo/nitrato or acetato bridges.

    PubMed

    Biswas, Chaitali; Drew, Michael G B; Ruiz, Eliseo; Estrader, Marta; Diaz, Carmen; Ghosh, Ashutosh

    2010-08-28

    Three novel mixed bridged trinuclear and one tetranuclear copper(II) complexes of tridentate NNO donor Schiff base ligands [Cu(3)(L(1))(2)(mu(1,1)-N(3))(2)(CH(3)OH)(2)(BF(4))(2)] (1), [Cu(3)(L(1))(2)(mu(1,1)-N(3))(2)(mu-NO(3)-1kappaO:2kappaO')(2)] (2), [Cu(3)(L(2))(2)(mu(1,1)-N(3))(2)(mu-NO(3)-1kappaO:2kappaO')(2)] (3) and [Cu(4)(L(3))(2)(mu(1,1)-N(3))(4)(mu-CH(3)COO-1kappaO:2kappaO')(2)] (4) have been synthesized by reaction of the respective tridentate ligands (L(1) = 2-[1-(2-dimethylamino-ethylimino)-ethyl]-phenol, L(2) = 2-[1-(2-diethylamino-ethylimino)-ethyl]-phenol, L(3) = 2-[1-(2-dimethylamino-ethylimino)-methyl]-phenol) with the corresponding copper(ii) salts in the presence of NaN(3). The complexes are characterized by single-crystal X-ray diffraction analyses and variable-temperature magnetic measurements. Complex 1 is composed of two terminal [Cu(L(1))(mu(1,1)-N(3))] units connected by a central [Cu(BF(4))(2)] unit through nitrogen atoms of end-on azido ligands and a phenoxo oxygen atom of the tridentate ligand. The structures of 2 and 3 are very similar; the only difference is that the central unit is [Cu(NO(3))(2)] and the nitrate group forms an additional mu-NO(3)-1kappaO:2kappaO' bridge between the terminal and central copper atoms. In complex 4, the central unit is a di-mu(1,1)-N(3) bridged dicopper entity, [Cu(2)(mu(1,1)-N(3))(2)(CH(3)COO)(2)] that connects two terminal [Cu(L(3))(mu(1,1)-N(3))] units through end-on azido, phenoxo oxygen and mu-CH(3)COO-1kappaO:2kappaO' triple bridges to result in a tetranuclear unit. Analyses of variable-temperature magnetic susceptibility data indicates that there is a global weak antiferromagnetic interaction between the copper(II) ions in complexes 1-3, with the exchange parameter J of -9.86, -11.6 and -19.98 cm(-1) for 1-3, respectively. In complex 4 theoretical calculations show the presence of an antiferromagnetic coupling in the triple bridging ligands (acetato, phenoxo and azido) while the interaction

  5. Geochemistry of the Late Neoproterozoic Hadb adh Dayheen ring complex, Central Arabian Shield: Implications for the origin of rare-metal-bearing post-orogenic A-type granites

    NASA Astrophysics Data System (ADS)

    Moghazi, A. M.; Harbi, H. M.; Ali, K. A.

    2011-11-01

    The Hadb adh Dayheen ring complex (HDRC), Central Arabian Shield, is an alkaline to peralkaline A-type granite complex. It consists of an inner core of monzogranite followed outward by porphyritic alkali feldspar granite (hornblende biotite granite and aegirine riebeckite granite). Field and textural observations indicate that the different granite types were separated from magma reservoir, at different stages, and emplaced at higher levels along pre-existing fractures. The geochemical characteristics indicate that their magma was most plausibly originated by partial melting of juvenile lower crust following collision between East and West Gondwana at the final stage of the Arabian Shield evolution. The alkali feldspar granites have high abundances of albite and fluorite and wide variation of HFSE and REE that indicate interaction with hydrothermal F-rich fluids. Although there are many geochemical, mineralogical and textural evidence of secondary metasomatic alteration superimposed on the granitic rocks, they show textural features such as the arrangement of albite inclusions along growth planes in quartz (snowball texture) and aegirine that indicate early magmatic crystallization of albite. Also, the strong linear positive correlation of Ta vs. Nb and Zr vs. Hf emphasize that the behavior and enrichment of Ta and Nb are largely controlled by magmatic processes. The events that can explain the evolution of these rocks are: (1) during magmatic evolution, F dissolved in the magma and lowered the crystallization temperature causing REE and HFSE to form complexes and thus behave as incompatible elements, (2) prolonged crystallization of the major mineral phases (quartz and feldspar) formed a late-stage magmatic fluid enriched in volatiles (H 2O, F) and trace elements, (3) accessory minerals crystallized from such a phase in the interstices between the major mineral phases, and (4) post-magmatic re-equilibration and formation of secondary albite (Na-metasomatism) has

  6. Fe(II)(pap-5NO2)2 and Fe(II)(qsal-5NO2)2 Schiff-base spin-crossover complexes: a rare example with photomagnetism and room-temperature bistability.

    PubMed

    Iasco, Olga; Rivière, Eric; Guillot, Régis; Buron-Le Cointe, Marylise; Meunier, Jean-François; Bousseksou, Azzedine; Boillot, Marie-Laure

    2015-02-16

    We focus here on the properties of Fe complexes formed with Schiff bases involved in the chemistry of Fe(III) spin-transition archetypes. The neutral Fe(pap-5NO2)2 (1) and Fe(qsal-5NO2)2·Solv (2 and 2·Solv) compounds (Solv = 2H2O) derive from the reaction of Fe(II) salts with the condensation products of pyridine-2-carbaldehyde with 2-hydroxy-5-nitroaniline (Hpap-5NO2) or 5-nitrosalicylaldehyde with quinolin-8-amine (Hqsal-5NO2), respectively. While the Fe(qsal-5NO2)2·Solv solid is essentially low spin (S = 0) and requires temperatures above 300 K to undergo a S = 0 ↔ S = 2 spin-state switching, the Fe(pap-5NO2)2 one presents a strongly cooperative first-order transition (T↓ = 291 K, T↑ = 308 K) centered at room temperature associated with a photomagnetic effect at 10 K (TLIESST = 58 K). The investigation of these magnetic behaviors was conducted with single-crystal X-ray diffraction (1, 100 and 320 K; 2, 100 K), Mössbauer, IR, UV-vis (1 and 2·Solv), and differential scanning calorimetry (1) measurements. The Mössbauer analysis supports a description of these compounds as Fe(II) Schiff-base complexes and the occurrence of a metal-centered spin crossover process. In comparison with Fe(III) analogues, it appears that an expanded coordination sphere stabilizes the valence 2+ state of the Fe ion in both complexes. Strong hydrogen-bonding interactions that implicate the phenolato group bound to Fe(II) promote the required extra-stabilization of the S = 2 state and thus determines the spin transition of 1 centered at room temperature. In the lattice, the hydrogen-bonded sites form infinite chains interconnected via a three-dimensional network of intermolecular van der Waals contacts and π-π interactions. Therefore, the spin transition of 1 involves the synergetic influence of electrostatic and elastic interactions, which cause the enhancement of cooperativity and result in the bistability at room temperature. PMID:25590643

  7. How to model rare events?

    NASA Astrophysics Data System (ADS)

    Grieser, J.; Jewson, S.

    2009-04-01

    The risk of extreme meteorological events is often estimated using extreme value theory (EVT). However, EVT can't be expected to work well in all cases. Two examples are (a) very rare events which are not adequately captured in short observational records and (b) nonstationary situations where observations alone cannot provide risk estimates for the future. For these reasons Risk Management Solutions (RMS) develops models of extreme weather risks that are based on a combination of both, physics and statistics, rather than just statistics. One example is the RMS TC-Rain model. In addition to wind and storm surge, tropical cyclones (TCs) can lead to torrential rain that may cause widespread flooding and landslides. The most prominent recent historical example is tropical storm Alison (2001) which inundated Houston and caused roughly US 5bn of damage. Since Alison was only tropical storm, rather than a hurricane, no damage due to wind and storm surge was expected and no serious warnings were issued. RMS now has developed a TC-Rain Model which is based on a combination of observations, experience and physical parameterizations. It is an example on how the use of physical principles helps to estimate the risk of rare and devastating events. Based on an event set of TC tracks it allows the calculation of several hundred thousand TC rain footprints which can then be used for the estimation of flood levels and their return periods via a complex dynamical hydrological model. The TC-Rain Model takes a number of physical mechanisms into account, including (a) the effect of surface roughness change at land fall, (b) orographic rain enhancement, (c) drift of rain due to strong horizontal winds, (d) asymmetry, (e) outer rain bands and (f) the dependence on sea surface temperature. It is calibrated using 35 US-landfalling tropical cyclones from 1998 to the 2008, and verified against all US-landfalling TCs since 1948. The model is not designed as a forecasting tool, but rather a

  8. How important are rare variants in common disease?

    PubMed

    Saint Pierre, Aude; Génin, Emmanuelle

    2014-09-01

    Genome-wide association studies have uncovered hundreds of common genetic variants involved in complex diseases. However, for most complex diseases, these common genetic variants only marginally contribute to disease susceptibility. It is now argued that rare variants located in different genes could in fact play a more important role in disease susceptibility than common variants. These rare genetic variants were not captured by genome-wide association studies using single nucleotide polymorphism-chips but with the advent of next-generation sequencing technologies, they have become detectable. It is now possible to study their contribution to common disease by resequencing samples of cases and controls or by using new genotyping exome arrays that cover rare alleles. In this review, we address the question of the contribution of rare variants in common disease by taking the examples of different diseases for which some resequencing studies have already been performed, and by summarizing the results of simulation studies conducted so far to investigate the genetic architecture of complex traits in human. So far, empirical data have not allowed the exclusion of many models except the most extreme ones involving only a small number of rare variants with large effects contributing to complex disease. To unravel the genetic architecture of complex disease, case-control data will not be sufficient, and alternative study designs need to be proposed together with methodological developments.

  9. Heminasal proboscis, a rare craniofacial cleft.

    PubMed

    Hassani, Mohammad Esmaiil; Karimi, Hamid; Hassani, Hosein; Hassani, Ali; Jalili-Manesh, Mohammad

    2014-01-01

    Craniofacial clefts are extremely rare congenital anomalies, the importance of which lies in their great range of variety of anatomic forms and their complex management. Proboscis is one of the rare cases of this kind in which half of the nose is separated from the face and it is only pedicled on the right or left medial canthal regions by a nose-like, rudimentary tubular structure. This article reports the case of a 3-month-old infant with left-sided proboscis. Left lower eyelid coloboma was also present. The proboscis was treated with local flaps at the age of 3 months, and at the age of 10 months the coloboma was managed. PMID:24275777

  10. China's rare-earth industry

    USGS Publications Warehouse

    Tse, Pui-Kwan

    2011-01-01

    Introduction China's dominant position as the producer of over 95 percent of the world output of rare-earth minerals and rapid increases in the consumption of rare earths owing to the emergence of new clean-energy and defense-related technologies, combined with China's decisions to restrict exports of rare earths, have resulted in heightened concerns about the future availability of rare earths. As a result, industrial countries such as Japan, the United States, and countries of the European Union face tighter supplies and higher prices for rare earths. This paper briefly reviews China's rare-earth production, consumption, and reserves and the important policies and regulations regarding the production and trade of rare earths, including recently announced export quotas. The 15 lanthanide elements-lanthanum, cerium, praseodymium, neodymium, promethium, samarium, europium, gadolinium, terbium, dysprosium, holmium, erbium, thulium, ytterbium, and lutetium (atomic numbers 57-71)-were originally known as the rare earths from their occurrence in oxides mixtures. Recently, some researchers have included two other elements-scandium and yttrium-in their discussion of rare earths. Yttrium (atomic number 39), which lies above lanthanum in transition group III of the periodic table and has a similar 3+ ion with a noble gas core, has both atomic and ionic radii similar in size to those of terbium and dysprosium and is generally found in nature with lanthanides. Scandium (atomic number 21) has a smaller ionic radius than yttrium and the lanthanides, and its chemical behavior is intermediate between that of aluminum and the lanthanides. It is found in nature with the lanthanides and yttrium. Rare earths are used widely in high-technology and clean-energy products because they impart special properties of magnetism, luminescence, and strength. Rare earths are also used in weapon systems to obtain the same properties.

  11. Carney complex.

    PubMed

    Espiard, Stéphanie; Bertherat, Jérôme

    2013-01-01

    Carney complex is a rare, dominantly inherited multiple endocrine neoplasia syndrome, affecting endocrine glands as the adrenal cortex (causing Cushing's syndrome), the pituitary and the thyroid. It is associated with many other nonendocrine tumors, including cardiac myxomas, testicular tumors, melanotic schwannoma, breast myxomatosis, and abnormal pigmentation (lentiginosis) or myxomas of the skin. The gene located on the CNC1 locus was identified 12 years ago as the regulatory subunit 1A (R1A) of the protein kinase A (PRKAR1A) located at 17q22-24. Inactivating heterozygous germline mutations of PRKAR1A are observed in about two thirds of Carney complex patients with some genotype-phenotype correlation useful for follow-up and prognosis. More rarely, mutations of phosphodiesterase genes have been reported in patients presenting mainly with Cushing's syndrome. In vitro and in vivo studies help to understand how R1A inactivation leads to tumorigenesis. PRKAR1A appears to be a relatively weak tumorigenic signal which can cooperate with other signaling pathways and tumor suppressors. PMID:23652670

  12. Status of rare decay experiments

    SciTech Connect

    Littenberg, L.S.

    1984-01-01

    Some results are given for rare muon decay experiments currently running. Also, plans are discussed for rare kaon decay experiments. Some of the events sought come from processes which violate lepton flavor conservation. Several apparatuses used in the search are described. 35 references. (LEW)

  13. Phase stable rare earth garnets

    DOEpatents

    Kuntz, Joshua D.; Cherepy, Nerine J.; Roberts, Jeffery J.; Payne, Stephen A.

    2013-06-11

    A transparent ceramic according to one embodiment includes a rare earth garnet comprising A.sub.hB.sub.iC.sub.jO.sub.12, where h is 3.+-.10%, i is 2.+-.10%, and j is 3.+-.10%. A includes a rare earth element or a mixture of rare earth elements, B includes at least one of aluminum, gallium and scandium, and C includes at least one of aluminum, gallium and scandium, where A is at a dodecahedral site of the garnet, B is at an octahedral site of the garnet, and C is at a tetrahedral site of the garnet. In one embodiment, the rare earth garment has scintillation properties. A radiation detector in one embodiment includes a transparent ceramic as described above and a photo detector optically coupled to the rare earth garnet.

  14. Characteristics and Patterns of Rare Malignancies Published in Rare Tumors.

    PubMed

    Habboush, Jacob; Hollant, Laeticia; Smart, Brigit; Single, Megan; Gaines, Katherine; Patel, Ajaykumar; Miller, Robert

    2016-06-28

    Rare Tumors is an international peer-reviewed medical journal established in 2009. The journal is focused on rare cancers and aims to expand upon current knowledge on their presentation, diagnosis, management, and outcomes. We reviewed the 335 case reports published from 2009 to 2015. We found great diversity in both the country of origin as well as specialty of first authors. Outside of the United States (US) and European Union (EU), there were 20 countries with contributions to the journal. Similarly, there was representation from twelve medical specialties with first authorship of reports. Rare Tumors continues to encourage involvement from physicians across the globe and from all medical disciplines. PMID:27441071

  15. Characteristics and Patterns of Rare Malignancies Published in Rare Tumors

    PubMed Central

    Habboush, Jacob; Hollant, Laeticia; Smart, Brigit; Single, Megan; Gaines, Katherine; Patel, Ajaykumar; Miller, Robert

    2016-01-01

    Rare Tumors is an international peer-reviewed medical journal established in 2009. The journal is focused on rare cancers and aims to expand upon current knowledge on their presentation, diagnosis, management, and outcomes. We reviewed the 335 case reports published from 2009 to 2015. We found great diversity in both the country of origin as well as specialty of first authors. Outside of the United States (US) and European Union (EU), there were 20 countries with contributions to the journal. Similarly, there was representation from twelve medical specialties with first authorship of reports. Rare Tumors continues to encourage involvement from physicians across the globe and from all medical disciplines. PMID:27441071

  16. Gastric sarcoidosis: rare presentation of a rare disease.

    PubMed

    Vanderhulst, J

    2015-02-01

    Gastrointestinal sarcoidosis is a rare form of extrapulmonary sarcoidosis. Most of the cases are represented by gastric involvement. We describe a patient with previous systemic sarcoidosis who presented with non-specific abdominal complaints. The workup showed the unusual combination of isolated active gastric sarcoidosis and quiescent activity of the disease elsewhere. We briefly review the clinical, diagnostic and therapeutic aspects of gastric sarcoidosis. We hope to increase awareness about this rare disease.

  17. Rare times rare: The hyponatremia, rhabdomyolysis, anterior compartment syndrome sequence

    PubMed Central

    Dubin, Ina; Gelber, Moshe

    2016-01-01

    Lesson Primary polydipsia occurs in up to 25% of patients with chronic psychiatric disorders (especially schizophrenia), related to the disease, its treatment or both. Urine output fails to match intake >10 L/day and water intoxication may develop. Rhabdomyolysis is a rare complication of hyponatremia, and an acute anterior compartment syndrome of the leg, an emergency, may be very rarely associated. PMID:27186379

  18. Robust and powerful affected sibpairtest for rare variant association

    PubMed Central

    Lin, Keng-Han; Zöllner, Sebastian

    2015-01-01

    Advances in DNA sequencing technology facilitate investigating the impact of rare variants on complex diseases. However, using a conventional case-control design, large samples are needed to capture enough rare variants to achieve sufficient power for testing the association between suspected loci and complex diseases. In such large samples, population stratification may easily cause spurious signals. One approach to overcome stratification is to use a family-based design. For rare variants, this strategy is especially appropriate, as power can be increased considerably by analyzing cases with affected relatives. We propose a novel framework for association testing in affected sibpairs by comparing the allele count of rare variants on chromosome regions shared identical by descent to the allele count of rare variants on non-shared chromosome regions, referred to as test for rare-variant association with family-based internal control (TRAFIC). This design is generally robust to population stratification as cases and controls are matched within each sibpair. We evaluate the power analytically using general model for effect size of rare variants. For the same number of genotyped people, TRAFIC shows superior power over the conventional case-control study for variants with summed risk allele frequency f < 0.05; this power advantage is even more substantial when considering allelic heterogeneity. For complex models of gene-gene interaction, this power advantage depends on the direction of interaction and overall heritability. In sum, we introduce a new method for analyzing rare variants in affected sibpairs that is robust to population stratification, and provide freely available software. PMID:25966809

  19. Rare Presentation of Ophthalmia Nodosa.

    PubMed

    Prasad, Shimna Clara; Korah, Sanita

    2015-01-01

    We report a rare case of ophthalmia nodosa, presenting as a painless swelling in the lower palpebral conjunctiva for 2 years with no signs of inflammation. Excision biopsy confirmed the diagnosis. PMID:26692729

  20. Rare Earth Optical Temperature Sensor

    NASA Technical Reports Server (NTRS)

    Chubb, Donald L. (Inventor); Jenkins, Phillip (Inventor)

    2004-01-01

    A rare earth optical temperature sensor is disclosed for measuring high temperatures. Optical temperature sensors exist that channel emissions from a sensor to a detector using a light pipe. The invention uses a rare earth emitter to transform the sensed thermal energy into a narrow band width optical signal that travels to a detector using a light pipe. An optical bandpass filter at the detector removes any noise signal outside of the band width of the signal from the emitter.

  1. [Adult-onset rare diseases].

    PubMed

    Pfliegler, György; Kovács, Erzsébet; Kovács, György; Urbán, Krisztián; Nagy, Valéria; Brúgós, Boglárka

    2014-03-01

    The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the urea cycle disorders), rare thrombophilias (e.g. homozygous factor V. Leiden mutation, antithrombin deficiency), or some rare monogenic disorders such as Huntington-chorea and many others. It is now generally accepted that at least half of the 6-8000 "rare diseases" belong either to the scope of adult-care (e.g. internal medicine, neurology), or to "age-neutral" specialities such as ophtalmology, dermatology etc.). PMID:24566697

  2. The Not-So-Rare Earths.

    ERIC Educational Resources Information Center

    Muecke, Gunter K.; Moller, Peter

    1988-01-01

    Describes the characteristics of rare earth elements. Details the physical chemistry of rare earths. Reviews the history of rare earth chemistry and mineralogy. Discusses the mineralogy and crystallography of the formation of rare earth laden minerals found in the earth's crust. Characterizes the geologic history of rare earth elements. (CW)

  3. Signs and genetics of rare cancer syndromes with gastroenterological features.

    PubMed

    Bruno, William; Fornarini, Giuseppe; Ghiorzo, Paola

    2015-08-14

    Although the genetic bases of most hereditary cancer syndromes are known, and genetic tests are available for them, the incidence of the most rare of these syndromes is likely underestimated, partially because the clinical expression is neither fully understood nor easily diagnosed due to the variable and complex expressivity. The clinical features of a small pool of rare cancer syndromes include gastroenterological signs, though not necessarily tumors, that could require the intervention of a gastroenterologist during any of the phases of the clinical management. Herein we will attempt to spread the knowledge on these rare syndromes by summarizing the phenotype and genetic basis, and revising the peculiar gastroenterological signs whose underlying role in these rare hereditary cancer syndromes is often neglected. Close collaboration between geneticists and gastroenterologists could facilitate both the early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management of these subjects.

  4. Signs and genetics of rare cancer syndromes with gastroenterological features

    PubMed Central

    Bruno, William; Fornarini, Giuseppe; Ghiorzo, Paola

    2015-01-01

    Although the genetic bases of most hereditary cancer syndromes are known, and genetic tests are available for them, the incidence of the most rare of these syndromes is likely underestimated, partially because the clinical expression is neither fully understood nor easily diagnosed due to the variable and complex expressivity. The clinical features of a small pool of rare cancer syndromes include gastroenterological signs, though not necessarily tumors, that could require the intervention of a gastroenterologist during any of the phases of the clinical management. Herein we will attempt to spread the knowledge on these rare syndromes by summarizing the phenotype and genetic basis, and revising the peculiar gastroenterological signs whose underlying role in these rare hereditary cancer syndromes is often neglected. Close collaboration between geneticists and gastroenterologists could facilitate both the early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management of these subjects. PMID:26290627

  5. Bayesian analysis of rare events

    NASA Astrophysics Data System (ADS)

    Straub, Daniel; Papaioannou, Iason; Betz, Wolfgang

    2016-06-01

    In many areas of engineering and science there is an interest in predicting the probability of rare events, in particular in applications related to safety and security. Increasingly, such predictions are made through computer models of physical systems in an uncertainty quantification framework. Additionally, with advances in IT, monitoring and sensor technology, an increasing amount of data on the performance of the systems is collected. This data can be used to reduce uncertainty, improve the probability estimates and consequently enhance the management of rare events and associated risks. Bayesian analysis is the ideal method to include the data into the probabilistic model. It ensures a consistent probabilistic treatment of uncertainty, which is central in the prediction of rare events, where extrapolation from the domain of observation is common. We present a framework for performing Bayesian updating of rare event probabilities, termed BUS. It is based on a reinterpretation of the classical rejection-sampling approach to Bayesian analysis, which enables the use of established methods for estimating probabilities of rare events. By drawing upon these methods, the framework makes use of their computational efficiency. These methods include the First-Order Reliability Method (FORM), tailored importance sampling (IS) methods and Subset Simulation (SuS). In this contribution, we briefly review these methods in the context of the BUS framework and investigate their applicability to Bayesian analysis of rare events in different settings. We find that, for some applications, FORM can be highly efficient and is surprisingly accurate, enabling Bayesian analysis of rare events with just a few model evaluations. In a general setting, BUS implemented through IS and SuS is more robust and flexible.

  6. Detection of rare functional variants using group ISIS.

    PubMed

    Niu, Yue S; Hao, Ning; An, Lingling

    2011-11-29

    Genome-wide association studies have been firmly established in investigations of the associations between common genetic variants and complex traits or diseases. However, a large portion of complex traits and diseases cannot be explained well by common variants. Detecting rare functional variants becomes a trend and a necessity. Because rare variants have such a small minor allele frequency (e.g., <0.05), detecting functional rare variants is challenging. Group iterative sure independence screening (ISIS), a fast group selection tool, was developed to select important genes and the single-nucleotide polymorphisms within. The performance of the group ISIS and group penalization methods is compared for detecting important genes in the Genetic Analysis Workshop 17 data. The results suggest that the group ISIS is an efficient tool to discover genes and single-nucleotide polymorphisms associated to phenotypes.

  7. A Rare Cause of Prepubertal Gynecomastia: Sertoli Cell Tumor

    PubMed Central

    Dursun, Fatma; Su Dur, Şeyma Meliha; Şahin, Ceyhan; Kırmızıbekmez, Heves; Karabulut, Murat Hakan; Yörük, Asım

    2015-01-01

    Prepubertal gynecomastia due to testis tumors is a very rare condition. Nearly 5% of the patients with testicular mass present with gynecomastia. Sertoli cell tumors are sporadic in 60% of the reported cases, while the remaining is a component of multiple neoplasia syndromes such as Peutz-Jeghers syndrome and Carney complex. We present a 4-year-old boy with gynecomastia due to Sertoli cell tumor with no evidence of Peutz-Jeghers syndrome or Carney complex. PMID:26366315

  8. DGTI Register of Rare Donors

    PubMed Central

    Hustinx, Hein

    2014-01-01

    Summary For patients with antibodies against the most common blood groups a rapid and efficient supply of compatible erythrocyte concentrates is self-evident. But typically we have to make the greatest effort providing blood for these patients, which have made antibodies against common blood groups. There are however patients with antibodies against rare blood group antigens that need special blood. The supply of such blood can be very difficult and mostly time-consuming. For this reason we set up a database of blood donors with rare blood groups. Since 2005 the BTS SRC Berne Ltd. has run this database on behalf of the Swiss BTS SRC. After a reorganization and extension of the database, conducted during 2011/2012, the data file was renamed ‘DGTI Register of Rare Donors’ and is now run under the patronage of the German Society for Transfusion Medicine and Immunohematology (DGTI). PMID:25538534

  9. Ainhum - A Rare Case Report

    PubMed Central

    Prabhu, Ravi; Vinoth, Sundaresan; Praveen, Chinnappan Balasubramanian

    2016-01-01

    The term ‘AINHUM’ is derived from the African word meaning ‘to saw or cut’. True ainhum otherwise called dactylolysis spontanea is a condition involving soft tissue or digits with constricting rings commonly presenting in fifth toes, usually bilateral. It is to be differentiated from Pseudo-ainhum that occurs secondary to some hereditary and nonhereditary diseases that lead to annular constriction of digits. We report a rare case of true ainhum involving the left fourth toe only. It is a very rare case and a very few were reported worldwide. The highest incidence of ainhum has been reported in South Africa and South America. It is rarely reported in India. Ainhum when diagnosed and treated in early stages can be prevented from progressing to mutilating deformities. PMID:27190888

  10. Microbial community assembly, theory and rare functions

    PubMed Central

    Pholchan, Mujalin K.; Baptista, Joana de C.; Davenport, Russell J.; Sloan, William T.; Curtis, Thomas P.

    2013-01-01

    Views of community assembly have traditionally been based on the contrasting perspectives of the deterministic niche paradigm and stochastic neutral models. This study sought to determine if we could use empirical interventions conceived from a niche and neutral perspective to change the diversity and evenness of the microbial community within a reactor treating wastewater and to see if there was any associated change in the removal of endocrine disrupting compounds (EDCs). The systematic removal of EDCs and micropollutants from biological treatment systems is a major challenge for environmental engineers. We manipulated pairs of bioreactors in an experiment in which “niche” (temporal variation in resource concentration and resource complexity) and “neutral” (community size and immigration) attributes were changed and the effect on the detectable diversity and the removal of steroidal estrogens was evaluated. The effects of manipulations on diversity suggested that both niche and neutral processes are important in community assembly. We found that temporal variation in environmental conditions increased diversity but resource complexity did not. Larger communities had greater diversity but attempting to increase immigration by adding soil had the opposite effect. The effects of the manipulations on EDC removal efficiency were complex. Decreases in diversity, which were associated with a decrease in evenness, were associated with an increase in EDC removal. A simple generalized neutral model (calibrated with parameters typical of wastewater treatment plants) showed that decreases in diversity should lead to the increase in abundance of some ostensibly taxa rare. We conclude that neither niche and neutral perspectives nor the effect of diversity on putative rare functions can be properly understood by naïve qualitative observations. Instead, the relative importance of the key microbial mechanisms must be determined and, ideally, expressed mathematically

  11. Microbial community assembly, theory and rare functions.

    PubMed

    Pholchan, Mujalin K; Baptista, Joana de C; Davenport, Russell J; Sloan, William T; Curtis, Thomas P

    2013-01-01

    Views of community assembly have traditionally been based on the contrasting perspectives of the deterministic niche paradigm and stochastic neutral models. This study sought to determine if we could use empirical interventions conceived from a niche and neutral perspective to change the diversity and evenness of the microbial community within a reactor treating wastewater and to see if there was any associated change in the removal of endocrine disrupting compounds (EDCs). The systematic removal of EDCs and micropollutants from biological treatment systems is a major challenge for environmental engineers. We manipulated pairs of bioreactors in an experiment in which "niche" (temporal variation in resource concentration and resource complexity) and "neutral" (community size and immigration) attributes were changed and the effect on the detectable diversity and the removal of steroidal estrogens was evaluated. The effects of manipulations on diversity suggested that both niche and neutral processes are important in community assembly. We found that temporal variation in environmental conditions increased diversity but resource complexity did not. Larger communities had greater diversity but attempting to increase immigration by adding soil had the opposite effect. The effects of the manipulations on EDC removal efficiency were complex. Decreases in diversity, which were associated with a decrease in evenness, were associated with an increase in EDC removal. A simple generalized neutral model (calibrated with parameters typical of wastewater treatment plants) showed that decreases in diversity should lead to the increase in abundance of some ostensibly taxa rare. We conclude that neither niche and neutral perspectives nor the effect of diversity on putative rare functions can be properly understood by naïve qualitative observations. Instead, the relative importance of the key microbial mechanisms must be determined and, ideally, expressed mathematically. PMID

  12. Currarino syndrome: Rare clinical variants

    PubMed Central

    Kumar, Bindey; Sinha, Amit Kumar; Kumar, Prem; Kumar, Anil

    2016-01-01

    Currarino syndrome (CS) is a rare clinical condition. The classical presentation includes a triad of sacral anomaly, anorectal malformations, and presacral mass. This syndrome belongs to the group of persistent neuroenteric malformations. This article presents two cases of Currarino syndrome, where there was rare clinical variants such as rectal atresia in the first case and rectal stenosis in the second case. The clinical presentations were very deceptive as the first case presented as high anorectal malformation and the second case was simulating Hirschprung's disease.

  13. Currarino syndrome: Rare clinical variants

    PubMed Central

    Kumar, Bindey; Sinha, Amit Kumar; Kumar, Prem; Kumar, Anil

    2016-01-01

    Currarino syndrome (CS) is a rare clinical condition. The classical presentation includes a triad of sacral anomaly, anorectal malformations, and presacral mass. This syndrome belongs to the group of persistent neuroenteric malformations. This article presents two cases of Currarino syndrome, where there was rare clinical variants such as rectal atresia in the first case and rectal stenosis in the second case. The clinical presentations were very deceptive as the first case presented as high anorectal malformation and the second case was simulating Hirschprung's disease. PMID:27695213

  14. Dioctophymiasis: A Rare Case Report

    PubMed Central

    Kaval, Sunil; Tewari, Swati

    2016-01-01

    Dioctophyma renale commonly known as “giant kidney worm’ is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India. PMID:27042466

  15. Dioctophymiasis: A Rare Case Report.

    PubMed

    Chauhan, Sapna; Kaval, Sunil; Tewari, Swati

    2016-02-01

    Dioctophyma renale commonly known as "giant kidney worm' is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India.

  16. RARE II: The Administration's View

    ERIC Educational Resources Information Center

    Cutler, M. Rupert

    1977-01-01

    RARE II is a new Roadless Area Review and Evaluation of the National Forest system. Administrators are attempting to inventory existing wilderness areas and to determine criteria for setting aside additional ones. This information will be used for the required 1980 update of the national assessment of forests and rangelands. (MA)

  17. Rare case with megaloblastic anaemia.

    PubMed

    Saleem, Munnaza; Shah, Syed Sajid Hussain; Mehmood, Tahir

    2014-01-01

    A nine years old boy presented with history of pallor and anaemia since early infancy along with neural hearing loss responding to empirical multivitamin and folic acid therapy started on basis of blood complete picture showing anaemia and megaloblastic anaemia. On investigation he was diagnosed with Thiamine Responsive Megaloblastic Anaemia, a very rare condition in our settings. PMID:25358233

  18. Cherubism: A rare case report

    PubMed Central

    Kaur, Manpreet; Shah, Sonali; Babaji, Prashant; Singh, Jaideep; Nair, Divya; Kamble, Suresh S

    2014-01-01

    Cherubism is a rare congenital disease resulting in malformation of the jaw. It occurs before the age of 5 years and regress spontaneously after puberty. It can result into enlargement of the jaw bone, tooth displacement, facial disfigurement and psychological trauma to patient. Hence, the understanding about the condition, its progression and management is necessary. PMID:25097445

  19. CP violation and rare decays

    SciTech Connect

    Quigg, C.

    2000-01-24

    After a brief essay on the current state of particle physics and possible approaches to the opportunities that have presented themselves, the author summarizes the contributions to the Third Workshop on Physics and Detectors for DA{Phi}NE that deal with CP Violation and Rare Decays.

  20. Rare decays at the Tevatron

    SciTech Connect

    Farrington, S.M.; /Liverpool U.

    2006-01-01

    The confidence level limits of the CDF and D0 searches for the B{sub s}{sup 0}, B{sub d}{sup 0} {yields} {mu}{sup +}{mu}{sup -} and B{sub s}{sup 0} {yields} {mu}{sup +}{mu}{sup -}{phi} rare decays are presented.

  1. Rare B decays at CDF

    SciTech Connect

    Farrington, Sinead M.; /Liverpool U.

    2006-10-01

    The confidence level limits of the CDF search for the B{sub s}{sup 0} and B{sub d}{sup 0} {yields} {mu}{sup +}{mu}{sup -} rare decays and the branching ratio measurement of B{sub s}{sup 0} {yields} D{sub s}{sup +} D{sub s}{sup -} are presented.

  2. Selective Emitter Pumped Rare Earth Laser

    NASA Technical Reports Server (NTRS)

    Chubb, Donald L. (Inventor); Patton, Martin O. (Inventor)

    2001-01-01

    A selective emitter pumped rare earth laser provides an additional type of laser for use in many laser applications. Rare earth doped lasers exist which are pumped with flashtubes or laser diodes. The invention uses a rare earth emitter to transform thermal energy input to a spectral band matching the absorption band of a rare earth in the laser in order to produce lasing.

  3. [Complex odontoma with dentigerous cyst: a case report].

    PubMed

    Qizhang, Xu; Hongliang, Zhang; Xiaoyu, Wang; Zhanji, Wang; Qianqian, Xu; Qiong, Ma

    2014-12-01

    Complex odontoma is a relatively rare dental dysplasia. In particular, a complex odontoma with dentigerous cyst is seldom observed. A case of complex odontoma with dentigerous cyst is reported in this paper.

  4. Marker-specific sorting of rare cells using dielectrophoresis

    NASA Astrophysics Data System (ADS)

    Hu, Xiaoyuan; Bessette, Paul H.; Qian, Jiangrong; Meinhart, Carl D.; Daugherty, Patrick S.; Soh, Hyongsok T.

    2005-11-01

    Current techniques in high-speed cell sorting are limited by the inherent coupling among three competing parameters of performance: throughput, purity, and rare cell recovery. Microfluidics provides an alternate strategy to decouple these parameters through the use of arrayed devices that operate in parallel. To efficiently isolate rare cells from complex mixtures, an electrokinetic sorting methodology was developed that exploits dielectrophoresis (DEP) in microfluidic channels. In this approach, the dielectrophoretic amplitude response of rare target cells is modulated by labeling cells with particles that differ in polarization response. Cell mixtures were interrogated in the DEP-activated cell sorter in a continuous-flow manner, wherein the electric fields were engineered to achieve efficient separation between the dielectrophoretically labeled and unlabeled cells. To demonstrate the efficiency of marker-specific cell separation, DEP-activated cell sorting (DACS) was applied for affinity-based enrichment of rare bacteria expressing a specific surface marker from an excess of nontarget bacteria that do not express this marker. Rare target cells were enriched by >200-fold in a single round of sorting at a single-channel throughput of 10,000 cells per second. DACS offers the potential for automated, surface marker-specific cell sorting in a disposable format that is capable of simultaneously achieving high throughput, purity, and rare cell recovery. cell sorting | microfluidics

  5. Marker-specific sorting of rare cells using dielectrophoresis

    PubMed Central

    Hu, Xiaoyuan; Bessette, Paul H.; Qian, Jiangrong; Meinhart, Carl D.; Daugherty, Patrick S.; Soh, Hyongsok T.

    2005-01-01

    Current techniques in high-speed cell sorting are limited by the inherent coupling among three competing parameters of performance: throughput, purity, and rare cell recovery. Microfluidics provides an alternate strategy to decouple these parameters through the use of arrayed devices that operate in parallel. To efficiently isolate rare cells from complex mixtures, an electrokinetic sorting methodology was developed that exploits dielectrophoresis (DEP) in microfluidic channels. In this approach, the dielectrophoretic amplitude response of rare target cells is modulated by labeling cells with particles that differ in polarization response. Cell mixtures were interrogated in the DEP-activated cell sorter in a continuous-flow manner, wherein the electric fields were engineered to achieve efficient separation between the dielectrophoretically labeled and unlabeled cells. To demonstrate the efficiency of marker-specific cell separation, DEP-activated cell sorting (DACS) was applied for affinity-based enrichment of rare bacteria expressing a specific surface marker from an excess of nontarget bacteria that do not express this marker. Rare target cells were enriched by >200-fold in a single round of sorting at a single-channel throughput of 10,000 cells per second. DACS offers the potential for automated, surface marker-specific cell sorting in a disposable format that is capable of simultaneously achieving high throughput, purity, and rare cell recovery. PMID:16236724

  6. Molecular rare-earth-metal hydrides in non-cyclopentadienyl environments.

    PubMed

    Fegler, Waldemar; Venugopal, Ajay; Kramer, Mathias; Okuda, Jun

    2015-02-01

    Molecular hydrides of the rare-earth metals play an important role as homogeneous catalysts and as counterparts of solid-state interstitial hydrides. Structurally well-characterized non-metallocene-type hydride complexes allow the study of elementary reactions that occur at rare-earth-metal centers and of catalytic reactions involving bonds between rare-earth metals and hydrides. In addition to neutral hydrides, cationic derivatives have now become available.

  7. Rare events: a state of the art

    SciTech Connect

    Uppuluri, V.R.R.

    1980-12-01

    The study of rare events has become increasingly important in the context of nuclear safety. Some philosophical considerations, such as the framework for the definition of a rare event, rare events and science, rare events and trans-science, and rare events and public perception, are discussed. The technical work of the Task Force on problems of Rare Events in the Reliability Analysis of Nuclear Plants (1976-1978), sponsored by OECD, is reviewed. Some recent technical considerations are discussed, and conclusions are drawn. The appendix contains an essay written by Anne E. Beachey, under the title: A Study of Rare Events - Problems and Promises.

  8. Mining Rare Associations between Biological Ontologies

    PubMed Central

    Benites, Fernando; Simon, Svenja; Sapozhnikova, Elena

    2014-01-01

    The constantly increasing volume and complexity of available biological data requires new methods for their management and analysis. An important challenge is the integration of information from different sources in order to discover possible hidden relations between already known data. In this paper we introduce a data mining approach which relates biological ontologies by mining cross and intra-ontology pairwise generalized association rules. Its advantage is sensitivity to rare associations, for these are important for biologists. We propose a new class of interestingness measures designed for hierarchically organized rules. These measures allow one to select the most important rules and to take into account rare cases. They favor rules with an actual interestingness value that exceeds the expected value. The latter is calculated taking into account the parent rule. We demonstrate this approach by applying it to the analysis of data from Gene Ontology and GPCR databases. Our objective is to discover interesting relations between two different ontologies or parts of a single ontology. The association rules that are thus discovered can provide the user with new knowledge about underlying biological processes or help improve annotation consistency. The obtained results show that produced rules represent meaningful and quite reliable associations. PMID:24404165

  9. Mining rare associations between biological ontologies.

    PubMed

    Benites, Fernando; Simon, Svenja; Sapozhnikova, Elena

    2014-01-01

    The constantly increasing volume and complexity of available biological data requires new methods for their management and analysis. An important challenge is the integration of information from different sources in order to discover possible hidden relations between already known data. In this paper we introduce a data mining approach which relates biological ontologies by mining cross and intra-ontology pairwise generalized association rules. Its advantage is sensitivity to rare associations, for these are important for biologists. We propose a new class of interestingness measures designed for hierarchically organized rules. These measures allow one to select the most important rules and to take into account rare cases. They favor rules with an actual interestingness value that exceeds the expected value. The latter is calculated taking into account the parent rule. We demonstrate this approach by applying it to the analysis of data from Gene Ontology and GPCR databases. Our objective is to discover interesting relations between two different ontologies or parts of a single ontology. The association rules that are thus discovered can provide the user with new knowledge about underlying biological processes or help improve annotation consistency. The obtained results show that produced rules represent meaningful and quite reliable associations.

  10. The not-so-rare earths

    SciTech Connect

    Muecke, G.K.; Moeller, P.

    1988-01-01

    They are neither rare nor earths. Rare earths are metallic elements present in small concentrations in most minerals. The rare earths are essential constituents of advanced alloys, laser crystals, and the new high-temperature superconductors. They also catalyze the refining of petroleum. This paper reviews the abundance of rare earths and shows how data on rare earths can explain the geologic history of magmas and hydrothermal solutions.

  11. Rare essentials: drugs for rare diseases as essential medicines.

    PubMed

    Stolk, Pieter; Willemen, Marjolein J C; Leufkens, Hubert G M

    2006-09-01

    Since 1977, the WHO Model List of Essential Medicines (EML), published by WHO, has provided advice for Member States that struggle to decide which pharmaceutical technologies should be provided to patients within their public health systems. Originating from outside WHO, an incentive system has been put in place by various governments for the development of medicines for rare diseases ("orphan drugs"). With progress in pharmaceutical research (e.g. drugs targeted for narrower indications), these medicines will feature more often on future public health agendas. However, when current definitions for selecting essential medicines are applied strictly, orphan drugs cannot be part of the WHO Essential Medicines Programme, creating the risk that WHO may lose touch with this field. In our opinion WHO should explicitly include orphan drugs in its policy sphere by composing a complementary Orphan Medicines Model List as an addition to the EML. This complementary list of "rare essentials" could aid policy-makers and patients in, for example, emerging countries to improve access to these drugs and stimulate relevant policies. Furthermore, inconsistencies in the current EML with regard to medicines for rare diseases can be resolved. In this paper we propose selection criteria for an Orphan Medicines Model List that could form a departure point for future work towards an extensive WHO Orphan Medicines Programme. PMID:17128345

  12. Rare Earth Garnet Selective Emitter

    NASA Technical Reports Server (NTRS)

    Lowe, Roland A.; Chubb, Donald L.; Farmer, Serene C.; Good, Brian S.

    1994-01-01

    Thin film Ho-YAG and Er-YAG emitters with a platinum substrate exhibit high spectral emittance in the emission band (epsilon(sub lambda) approx. = 0.75, sup 4)|(sub 15/2) - (sup 4)|(sub 13/2),for Er-YAG and epsilon(sub lambda) approx. = 0.65, (sup 5)|(sub 7) - (sup 5)|(sub 8) for Ho-YAG) at 1500 K. In addition, low out-of-band spectral emittance, epsilon(sub lambda) less than 0.2, suggest these materials would be excellent candidates for high efficiency selective emitters in thermophotovoltaic (TPV) systems operating at moderate temperatures (1200-1500 K). Spectral emittance measurements of the thin films were made (1.2 less than lambda less than 3.0 microns) and compared to the theoretical emittances calculated using measured values of the spectral extinction coefficient. In this paper we present the results for a new class of rare earth ion selective emitters. These emitters are thin sections (less than 1 mm) of yttrium aluminum garnet (YAG) single crystal with a rare earth substitutional impurity. Selective emitters in the near IR are of special interest for thermophotovoltaic (TPV) energy conversion. The most promising solid selective emitters for use in a TPV system are rare earth oxides. Early spectral emittance work on rare earth oxides showed strong emission bands in the infrared (0.9 - 3 microns). However, the emittance outside the emission band was also significant and the efficiency of these emitters was low. Recent improvements in efficiency have been made with emitters fabricated from fine (5 - 10 microns) rare earth oxide fibers similar to the Welsbach mantle used in gas lanterns. However, the rare earth garnet emitters are more rugged than the mantle type emitters. A thin film selective emitter on a low emissivity substrate such as gold, platinum etc., is rugged and easily adapted to a wide variety of thermal sources. The garnet structure and its many subgroups have been successfully used as hosts for rare earth ions, introduced as substitutional

  13. A Rare Case of Mucopolysaccharidosis: Hunter Syndrome

    PubMed Central

    Anekar, Jayaprasad; A.C., Raj; N.C., Sandeepa; Nappalli, Deepika

    2015-01-01

    Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder. PMID:26023658

  14. Ultra-rare Disease and Genomics-Driven Precision Medicine

    PubMed Central

    Lee, Sangmoon

    2016-01-01

    Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options. PMID:27445646

  15. Adolescent Mandibular Central Odontoameloblastoma: A Rare Case Report.

    PubMed

    Arun Kumar, K V; Mowar, Apoorva; Gupta, Rajat; Deepa, D

    2016-03-01

    Odontoameloblastoma is a rare odontogenic tumour, characterised by simultaneous occurrence of an ameloblastoma and a compound or complex odontoma in the same tumoral mass. The tumour is seen in first three decades and affects mandible or maxilla equally, commonly found posterior to the canines. The management is similar to unicystic ameloblastoma and odontoma excision. A long term follow up is a must to observe the recurrence. Here we present a rare case of odontoameloblastoma in a 17 year old male, presenting as an asymptomatic anterior mandibular swelling with chief complaint of missing lower front teeth. PMID:26929561

  16. Replica trick for rare samples

    NASA Astrophysics Data System (ADS)

    Rizzo, Tommaso

    2014-05-01

    In the context of disordered systems with quenched Hamiltonians I address the problem of characterizing rare samples where the thermal average of a specific observable has a value different from the typical one. These rare samples can be selected through a variation of the replica trick which amounts to replicating the system and dividing the replicas intwo two groups containing, respectively, M and -M replicas. Replicas in the first (second) group experience a positive (negative) small field O (1/M) conjugate to the observable considered and the M →∞ limit is to be taken in the end. Applications to the random-field Ising model and to the Sherrington-Kirkpatrick model are discussed.

  17. Rare Earth Optical Temperature Sensor

    NASA Technical Reports Server (NTRS)

    Chubb, Donald L.; Wolford, David S.

    2000-01-01

    A new optical temperature sensor suitable for high temperatures (greater than 1700 K) and harsh environments is introduced. The key component of the sensor is the rare earth material contained at the end of a sensor that is in contact with the sample being measured. The measured narrow wavelength band emission from the rare earth is used to deduce the sample temperature. A simplified relation between the temperature and measured radiation was verified experimentally. The upper temperature limit of the sensor is determined by material limits to be approximately 2000 C. The lower limit, determined by the minimum detectable radiation, is found to be approximately 700 K. At high temperatures 1 K resolution is predicted. Also, millisecond response times are calculated.

  18. Systemic sclerosis, a rare case.

    PubMed

    Sousa, Elsa; Valente, Paula; Santos, Mafalda

    2011-01-01

    Systemic sclerosis (SS) is a rare severe autoimmune disease involving the connective tissue. The pathophysiology is not clearly understood. It is characterized by a remarkable clinical heterogeneity, and virtually all organs can be affected. Concerning diagnosis, the presence of antinuclear antibodies (ANA) can be found in more than 90% of patients, but the diagnosis is made gathering clinical manifestations, autoimmune panel, nailfold capillaroscopy and in some cases biopsy of the organ involved. The disease course is also weakly understood, although some serological patterns can be distinguished. Current therapeutic options target few aspects of pathologic mechanism and clinical management remains a challenge.The authors presented a rare case of a SS ANA negative, which demonstrates the diagnostic challenge of this disease.

  19. Neonatal Hemophilia: A Rare Presentation

    PubMed Central

    Proença, Elisa; Godinho, Cristina; Oliveira, Dulce; Guedes, Ana; Morais, Sara; Carvalho, Carmen

    2015-01-01

    Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding. PMID:26734126

  20. A rare benign ovarian tumour.

    PubMed

    Palmeiro, Marta Morna; Cunha, Teresa Margarida; Loureiro, Ana Luisa; Esteves, Gonçalo

    2016-01-01

    Sclerosing stromal tumour (SST) of the ovary is an extremely rare and benign ovarian neoplasm, accounting for 6% of the sex cord stromal ovarian tumours subtype. Usually, it is found during the second and third decades of life. Patients commonly present with pelvic pain, a palpable pelvic mass or menstrual irregularity. We report a case of a 20-year-old woman reporting of mild pelvic pain, with normal laboratory data. On imaging examinations, a large right adnexal tumour was found, with features suggesting an ovarian sex cord tumour. The patient underwent right salpingo-oophorectomy, diagnosing a SST of the ovary. This paper also reviews the literature, and emphasises the typical pathological and imaging characteristics of these rare benign ovarian lesions, and their impact, in a conservative surgery. PMID:26933186

  1. Mucinous cystadenoma: A rare entity.

    PubMed

    Rai, Shalu; Rana, A S; Gupta, Vineeta; Jain, Gaurav; Prabhat, Mukul

    2013-09-01

    Cystadenoma is a rare benign salivary gland tumor that chiefly originates in the minor salivary glands as a cystic growth with papillary projections into the cystic lumen without the lymphoid element. It is further classified into two histopathological variants that have been recognized by World Health Organization as the papillary and the mucinous forms of cystadenoma. Clinically, it is difficult to differentiate from other benign minor salivary tumors and mucous retention phenomenon. Diagnosis is chiefly based on characteristics histological features. It is believed that the salivary gland tumors are difficult to diagnose and interpret because there are varied patterns of presentation. The study of salivary gland disorders has increased in leaps and bounds. The authors report a case of mucinous cystadenoma of the minor salivary gland on the hard palate, which is even rarest of the rarely reported cystadenomas of the minor salivary glands.

  2. Pseudohypoparathyroidism, rare cause of hypocalcaemia!

    PubMed

    Dosi, Rupal V; Ambaliya, Annirudh P; Joshi, Harshal K; Patell, Rushad D

    2013-10-01

    Pseudohypoparathyroidism is a rare disorder which is characterized by end organ parathormone resistance, which causes hypocalcaemia, hyperphosphataemia and high parathormone levels. We are reporting here case of a young male who had symptoms of chronic hypocalcaemia, with a positive Trousseau's and Chvostek's sign on examination, without any features of Albright's hereditary osteodystrophy. Lab investigations revealed low calcium, high phosphate and high PTH levels. The patient was diagnosed as having Pseudohypoparathyroidism and he was treated successfully with Calcium and Vitamin D supplements.

  3. Cloacal Exstrophy with Mature Teratoma: A Rare Association in a Neonate

    PubMed Central

    Patil, Prashant Sadashiv; Kothari, Paras; Gupta, Abhaya; Gupta, Rahul; kekre, Geeta; Dikshit, Vishesh; Kamble, Ravi

    2016-01-01

    Cloacal exstrophy is a very rare and complex malformation. We report a neonate of cloacal exstrophy with mature teratoma presenting as a component of exstrophy. To our knowledge this has not been reported in the literature. PMID:27123401

  4. Halos in cirrus clouds: why are classic displays so rare?

    PubMed

    Sassen, Kenneth

    2005-09-20

    Upper tropospheric cirrus clouds consist of hexagonal ice crystals, which geometrical ray-tracing-theory predicts should regularly produce a variety of optical phenomena such as vivid 22 degrees and 46 degrees halos. Yet, cirrus inconsistently generate such optical displays, while a class of more exotic displays are reported, albeit rarely. I review current knowledge of the cirrus cloud microphysical factors that control ice crystal shape, and hence halo/arc formation, but also appeal to halo enthusiasts to help investigate the causes of unusually complex, brilliant, or rare optical displays. Currently, a wealth of meteorological information can be tapped from the Internet to help advance our knowledge of the basic meteorological factors leading to these rare events.

  5. Optical Frequency Comb Spectroscopy of Rare Earth Atoms

    NASA Astrophysics Data System (ADS)

    Swiatlowski, Jerlyn; Palm, Christopher; Joshi, Trinity; Montcrieffe, Caitlin; Jackson Kimball, Derek

    2013-05-01

    We discuss progress in our experimental program to employ optical-frequency-comb-based spectroscopy to understand the complex spectra of rare-earth atoms. We plan to carry out systematic measurements of atomic transitions in rare-earth atoms to elucidate the energy level structure and term assignment and determine presently unknown atomic state parameters. This spectroscopic information is important in view of the increasing interest in rare-earth atoms for atomic frequency standards, in astrophysical investigations of chemically peculiar stars, and in tests of fundamental physics (tests of parity and time-reversal invariance, searches for time variation of fundamental constants, etc.). We are presently studying the use of hollow cathode lamps as atomic sources for two-photon frequency comb spectroscopy. Supported by the National Science Foundation under grant PHY-0958749.

  6. Pseudomyxoma extraperitonei: a rare presentation of a rare tumour

    PubMed Central

    Diaz-Zorrilla, Carmina; Ramos-De la Medina, Antonio; Grube-Pagola, Peter; Ramirez-Gutierrez de Velasco, Alfredo

    2013-01-01

    Pseudomyxoma extraperitonei is rare lesion resulting from the rupture of an appendiceal mucocele into the extraperitoneal tissues. We report a case of an 80-year-old woman with a medical history for a left hemicolectomy and a laparoscopic cholecystectomy 11 and 6 years, respectively, referred to our hospital for abdominal pain of increasing severity localised to the right hemiabdomen. The abdominal examination revealed a mobile mass a multidetector CT was performed; the patient was taken to surgery which was performed with no complications. Histopathological analysis of the tumour reported a pseudomyxoma associated to a moderately differentiated adenocarcinoma. The patient remains asymptomatic at a 1-year follow-up. PMID:23386488

  7. Maxillofacial esthesioneuroblastoma: A diagnostic complexity.

    PubMed

    Raj, G Shyam; Rao, Guttikonda Venkateswara; Kumar, Manchikatla Praveen; Sudheerkanth, Kondamari

    2016-01-01

    Esthesioneuroblastoma is a rare malignant tumor of the sinonasal tract. Oral and maxillofacial pathologists rarely encounter this tumor in their daily practice. Because of their complex anatomic location, non-specific symptoms, varied histomorphology and unfamiliarity, most of the times, the tumor is diagnosed as benign tumor and thereby conservative treatment results in multiple recurrences. A recurrent case of esthesioneuroblastoma in a 24-year-old female patient describing the clinical, histopathological and immunohistochemical features along with differential diagnosis is discussed. PMID:27601839

  8. Maxillofacial esthesioneuroblastoma: A diagnostic complexity

    PubMed Central

    Raj, G Shyam; Rao, Guttikonda Venkateswara; Kumar, Manchikatla Praveen; Sudheerkanth, Kondamari

    2016-01-01

    Esthesioneuroblastoma is a rare malignant tumor of the sinonasal tract. Oral and maxillofacial pathologists rarely encounter this tumor in their daily practice. Because of their complex anatomic location, non-specific symptoms, varied histomorphology and unfamiliarity, most of the times, the tumor is diagnosed as benign tumor and thereby conservative treatment results in multiple recurrences. A recurrent case of esthesioneuroblastoma in a 24-year-old female patient describing the clinical, histopathological and immunohistochemical features along with differential diagnosis is discussed. PMID:27601839

  9. Rare Tumors in Children: Progress Through Collaboration

    PubMed Central

    Furman, Wayne L.; Schultz, Kris A.; Ferrari, Andrea; Helman, Lee; Krailo, Mark D.

    2015-01-01

    Rare pediatric tumors account for approximately 10% of all childhood cancers, which in themselves are a rare entity. The diverse histologies and clinical behaviors of rare pediatric tumors pose challenges to the investigation of their biologic and clinical features. National and international cooperative groups such as the Rare Tumor Committee of the Children's Oncology Group, Rare Tumors in Pediatric Age Project, and European Cooperative Study Group for Pediatric Rare Tumors have developed several initiatives to advance knowledge about rare pediatric cancers. However, these programs have been only partially effective, necessitating the development of alternative mechanisms to study these challenging diseases. In this article, we review the current national and international collaborative strategies to study rare pediatric cancers and alternative methods under exploration to enhance those efforts, such as independent registries and disease-specific, National Cancer Institute–sponsored clinics. PMID:26304909

  10. Pseudohypoparathyroidism, Rare Cause of Hypocalcaemia!

    PubMed Central

    Dosi, Rupal V.; Ambaliya, Annirudh P.; Joshi, Harshal K.; Patell, Rushad D.

    2013-01-01

    Pseudohypoparathyroidism is a rare disorder which is characterized by end organ parathormone resistance, which causes hypocalcaemia, hyperphosphataemia and high parathormone levels. We are reporting here case of a young male who had symptoms of chronic hypocalcaemia, with a positive Trousseau’s and Chvostek’s sign on examination, without any features of Albright’s hereditary osteodystrophy. Lab investigations revealed low calcium, high phosphate and high PTH levels. The patient was diagnosed as having Pseudohypoparathyroidism and he was treated successfully with Calcium and Vitamin D supplements. PMID:24298504

  11. [Rare complication after stapled hemorrhoidectomy].

    PubMed

    Šuchá, R; Duchoň, R; Pinďák, D; Dolník, J

    2013-09-01

    Statistics show that more than half of the population suffers from hemorrhoids at different clinical stages. Only a small percentage of them (5 to 10%) require surgical treatment. The gold standard is open hemorrhoidectomy (most commonly Milligan-Morgan operation). Circular stapled hemorrhoidopexy by Longo is an alternative to conventional hemorrhoidectomy. The main advantages of this procedure are: less postoperative pain, earlier return to work and to social life. The complication rate is similar to open hemorrhoidectomy. This method, however, also brings new kinds of complications, some of them potentially life-threatening. Our case report presents one of these rare complications.

  12. Maxillary Osteomyelitis: A Rare Entity

    PubMed Central

    Sivaji, Nagaraj; Ashraf, Tauseef

    2016-01-01

    Osteomyelitis of the maxilla is now a rare event with the advent of antibiotics. The two predominant causes are odontogenic infections and sinusitis. Immunocompromised states such as diabetes, HIV, and malnutrition increase the risk of osteomyelitis. It is important to recognize this early as it is a difficult entity to treat with potentially serious consequences. We report an unusual case of right sided maxillary osteomyelitis in a lady with poorly controlled diabetes in rural Lincolnshire. Biopsy of the right maxillary bone showed features of acute osteomyelitis. This responded well to a prolonged course of oral antibiotics.

  13. Maxillary Osteomyelitis: A Rare Entity.

    PubMed

    Habib, Ayaaz; Sivaji, Nagaraj; Ashraf, Tauseef

    2016-01-01

    Osteomyelitis of the maxilla is now a rare event with the advent of antibiotics. The two predominant causes are odontogenic infections and sinusitis. Immunocompromised states such as diabetes, HIV, and malnutrition increase the risk of osteomyelitis. It is important to recognize this early as it is a difficult entity to treat with potentially serious consequences. We report an unusual case of right sided maxillary osteomyelitis in a lady with poorly controlled diabetes in rural Lincolnshire. Biopsy of the right maxillary bone showed features of acute osteomyelitis. This responded well to a prolonged course of oral antibiotics. PMID:27648332

  14. Esophageal Lipoma: A Rare Tumor

    PubMed Central

    Feldman, Jeremy; Tejerina, Manfred; Hallowell, Michael

    2012-01-01

    Esophageal lipomas are rare tumors, making up 0.4% of all digestive tract benign neoplasms. Most of these lesions are clinically silent as a result of their small size, however, the majority of lesions over 4 cm have been reported to cause dysphagia, regurgitation and/or epigastralgia. We report a case of a 53 year-old African American female who presented with dysphagia. Computed tomography of the chest and esophagram confirmed esophageal lipoma as the cause of the patient’s symptoms. Accurately diagnosing an esophageal lipoma is crucial in order to rule out potential malignant lesions, relieve patient symptoms and plan the appropriate treatment. PMID:23365708

  15. Rare B Decays at Babar

    SciTech Connect

    Palombo, Fernando; Collaboration, for the BABAR

    2009-01-12

    The author presents some of the most recent BABAR measurements for rare B decays. These include rate asymmetries in the B decays to K{sup (*)}l{sup +}l{sup -} and K{sup +}{pi}{sup -} and branching fractions in the B decays to l{sup +}{nu}{sub l}, K{sub 1}(1270){sup +}{pi}{sup -} and K{sub 1}(1400){sup +}{pi}{sup -}. The author also reports a search for the B{sup +} decay to K{sub S}{sup 0}K{sub S}{sup 0}{pi}{sup +}.

  16. Rare emerging malignant skin tumours.

    PubMed

    Rongioletti, F; Ferreli, C; Pinna, A L; Atzori, L

    2015-08-01

    As clinical skills improve and innovative diagnostic techniques become available in the field of dermatology and dermatopathology, new types or additional variants of malignant skin tumors are described. This article reviews the current nomenclature, clinico-pathological features, differential diagnosis, prognostic and therapeutic implications of some new dermato(patho)logical rare emerging skin tumors, including epithelial tumors (squamous cell carcinoma with mucinous metaplasia), adnexal tumors (endocrine mucin-producing sweat gland carcinoma), soft tissue tumors of vascular differentiation (pseudolymphomatous cutaneous angiosarcoma, pseudomyogenic hemangioendothelioma), hematopoietic tumors (blastic plasmacytoid dendritic cell neoplasm) and mixed epithelial/melanocytic tumor (squamomelanocytic tumor). PMID:26086411

  17. Maxillary Osteomyelitis: A Rare Entity

    PubMed Central

    Sivaji, Nagaraj; Ashraf, Tauseef

    2016-01-01

    Osteomyelitis of the maxilla is now a rare event with the advent of antibiotics. The two predominant causes are odontogenic infections and sinusitis. Immunocompromised states such as diabetes, HIV, and malnutrition increase the risk of osteomyelitis. It is important to recognize this early as it is a difficult entity to treat with potentially serious consequences. We report an unusual case of right sided maxillary osteomyelitis in a lady with poorly controlled diabetes in rural Lincolnshire. Biopsy of the right maxillary bone showed features of acute osteomyelitis. This responded well to a prolonged course of oral antibiotics. PMID:27648332

  18. Parasitic and rare spinal infections.

    PubMed

    do Amaral, Lázaro Luís Faria; Nunes, Renato Hoffmann; da Rocha, Antonio Jose

    2015-05-01

    The imaging features of spinal parasitic diseases and other rare infections are herein discussed. These diseases are distributed worldwide, with increased prevalence in areas with poor sanitary conditions and in developing countries. In nonendemic areas, sporadic cases may occur, consequent to increased international travel and immunocompromising conditions. Infectious diseases are usually treatable, and early detection is often crucial. A thorough comprehension of the imaging patterns associated with the clinical features, epidemiology, and laboratory results allows the radiologist to narrow down the options for differential diagnosis and facilitates the timely implementation of appropriate therapies. PMID:25952177

  19. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

    PubMed Central

    Tennessen, Jacob A.; Bigham, Abigail W.; O'Connor, Timothy D.; Fu, Wenqing; Kenny, Eimear E.; Gravel, Simon; McGee, Sean; Do, Ron; Liu, Xiaoming; Jun, Goo; Kang, Hyun Min; Jordan, Daniel; Leal, Suzanne M.; Gabriel, Stacey; Rieder, Mark J.; Abecasis, Goncalo; Altshuler, David; Nickerson, Deborah A.; Boerwinkle, Eric; Sunyaev, Shamil; Bustamante, Carlos D.; Bamshad, Michael J.; Akey, Joshua M.

    2013-01-01

    As a first step toward understanding how rare variants contribute to risk for complex diseases, we sequenced 15,585 human protein-coding genes to an average median depth of 111× in 2440 individuals of European (n = 1351) and African (n = 1088) ancestry. We identified over 500,000 single-nucleotide variants (SNVs), the majority of which were rare (86% with a minor allele frequency less than 0.5%), previously unknown (82%), and population-specific (82%). On average, 2.3% of the 13,595 SNVs each person carried were predicted to affect protein function of ∼313 genes per genome, and ∼95.7% of SNVs predicted to be functionally important were rare. This excess of rare functional variants is due to the combined effects of explosive, recent accelerated population growth and weak purifying selection. Furthermore, we show that large sample sizes will be required to associate rare variants with complex traits. PMID:22604720

  20. Rare earth garnet selective emitter

    NASA Technical Reports Server (NTRS)

    Lowe, Roland A.; Chubb, Donald L.; Farmer, Serene C.; Good, Brian S.

    1994-01-01

    Thin film Ho-YAG and Er-YAG emitters with a platinum substrate exhibit high spectral emittance in the emission band (epsilon(sub lambda) approximately equal to 0.74, ((4)l(sub 15/2)) - ( (4)l(sub13/2)), for Er-YAG and epsilon(sub lambda) approximately equal to 0.65, ((5)l(sub 7))-((5)l(sub 8)) for Ho-YAG) at excellent candidates for high efficiency selective emitters in the thermophotovoltaics (TPV) systems operating at moderate temperatures (1200-1500K). Spectral emittance measurements of the thin films were made (1.2 less than lambda less than 3.0 microns) and compared to the theoretical emittances calculated using measured values of the spectral extinction coefficient. In this paper we present the results for a new class of rare earth ion selective emitters. These emitters are thin sections (less than 1 mm) of yttrium aluminum garnet (YAG) single crystal with a rare earth substitutional impurity. This paper presents normal spectral emittance, epsilon(sub lambda), measurements of holmium (Ho), and erbium (Er) doped YAG thin film selective emitters at 1500 K, and compares those results with the theoretical spectral emittance.

  1. Scarcity of rare earth elements.

    PubMed

    de Boer, M A; Lammertsma, K

    2013-11-01

    Rare earth elements (REEs) are important for green and a large variety of high-tech technologies and are, therefore, in high demand. As a result, supply with REEs is likely to be disrupted (the degree of depends on the REE) in the near future. The 17 REEs are divided into heavy and light REEs. Other critical elements besides REEs, identified by the European Commission, are also becoming less easily available. Although there is no deficiency in the earth's crust of rare earth oxides, the economic accessibility is limited. The increased demand for REEs, the decreasing export from China, and geopolitical concerns on availability contributed to the (re)opening of mines in Australia and the USA and other mines are slow to follow. As a result, short supply of particularly terbium, dysprosium, praseodymium, and neodymium is expected to be problematic for at least the short term, also because they cannot be substituted. Recycling REEs from electronic waste would be a solution, but so far there are hardly any established REE recycling methods. Decreasing the dependency on REEs, for example, by identifying possible replacements or increasing their efficient use, represents another possibility.

  2. Purdue Rare Isotope Measurement Laboratory

    NASA Astrophysics Data System (ADS)

    Caffee, M.; Elmore, D.; Granger, D.; Muzikar, P.

    2002-12-01

    The Purdue Rare Isotope Measurement Laboratory (PRIME Lab) is a dedicated research and service facility for accelerator mass spectrometry. AMS is an ultra-sensitive analytical technique used to measure low levels of long-lived cosmic-ray-produced and anthropogenic radionuclides, and rare trace elements. We measure 10Be (T1/2 = 1.5 My), 26Al (.702 My), 36Cl (.301 My), and 129I (16 My), in geologic samples. Applications include dating the cosmic-ray-exposure time of rocks on Earth's surface, determining rock and sediment burial ages, measuring the erosion rates of rocks and soils, and tracing and dating ground water. We perform sample preparation and separation chemistries for these radio-nuclides for our internal research activities and for those external researchers not possessing this capability. Our chemical preparation laboratories also serve as training sites for members of the geoscience community developing these techniques at their institutions. Research at Purdue involves collaborators among members of the Purdue Departments of Physics, Earth and Atmospheric Sciences, Chemistry, Agronomy, and Anthropology. We also collaborate and serve numerous scientists from other institutions. We are currently in the process of modernizing the facility with the goals of higher precision for routinely measured radio-nuclides, increased sample throughput, and the development of new measurement capabilities for the geoscience community.

  3. Scarcity of rare earth elements.

    PubMed

    de Boer, M A; Lammertsma, K

    2013-11-01

    Rare earth elements (REEs) are important for green and a large variety of high-tech technologies and are, therefore, in high demand. As a result, supply with REEs is likely to be disrupted (the degree of depends on the REE) in the near future. The 17 REEs are divided into heavy and light REEs. Other critical elements besides REEs, identified by the European Commission, are also becoming less easily available. Although there is no deficiency in the earth's crust of rare earth oxides, the economic accessibility is limited. The increased demand for REEs, the decreasing export from China, and geopolitical concerns on availability contributed to the (re)opening of mines in Australia and the USA and other mines are slow to follow. As a result, short supply of particularly terbium, dysprosium, praseodymium, and neodymium is expected to be problematic for at least the short term, also because they cannot be substituted. Recycling REEs from electronic waste would be a solution, but so far there are hardly any established REE recycling methods. Decreasing the dependency on REEs, for example, by identifying possible replacements or increasing their efficient use, represents another possibility. PMID:24009098

  4. Identifying rare variants from exome scans: the GAW17 experience

    PubMed Central

    2011-01-01

    Genetic Analysis Workshop 17 (GAW17) provided a platform for evaluating existing statistical genetic methods and for developing novel methods to analyze rare variants that modulate complex traits. In this article, we present an overview of the 1000 Genomes Project exome data and simulated phenotype data that were distributed to GAW17 participants for analyses, the different issues addressed by the participants, and the process of preparation of manuscripts resulting from the discussions during the workshop. PMID:22373325

  5. Compositional and phase relations among rare earth element minerals

    NASA Technical Reports Server (NTRS)

    Burt, D. M.

    1990-01-01

    This paper discusses the compositional and phase relationships among minerals in which rare earth elements (REE) occur as essential constituents (e.g., bastnaesite, monazite, xenotime, aeschynite, allanite). Particular consideration is given to the vector representation of complex coupled substitutions in selected REE-bearing minerals and to the REE partitioning between minerals as related to the acid-base tendencies and mineral stabilities. It is shown that the treatment of coupled substitutions as vector quantities facilitates graphical representation of mineral composition spaces.

  6. Main types of rare-metal mineralization in Karelia

    NASA Astrophysics Data System (ADS)

    Ivashchenko, V. I.

    2016-03-01

    Rare-metal mineralization in Karelia is represented by V, Be, U deposits and In, Re, Nb, Ta, Li, Ce, La, and Y occurrences, which are combined into 17 types of magmatic, pegmatite, albitite-greisen, hydrothermal-metasomatic, sedimentary, and epigenetic groups. The main vanadium resources are localized in the Onega ore district. These are deposits of the Padma group (556 kt) and the Pudozhgorsky complex (1.5 Mt). The REE occurrences are primarily characterized by Ce-La specialization. The perspective of HREE is related to the Eletozero-Tiksheozero alkaline and Salmi anorthosite-rapakivi granite complexes. Rare-metal pegmatites bear complex mineralization with insignificant low-grade resources. The Lobash and Jalonvaara porphyry Cu-Mo deposits are potential sources of rhenium: Re contents in molybdenite are 20-70 and 50-246 ppm and hypothetical resources are 12 and 7.5 t, respectively. The high-grade (˜100 ppm) and metallogenic potential of indium (˜2400 t) make the deposits of the Pitkäranta ore district leading in the category of Russian ore objects most prospective for indium. Despite the diverse rare-metal mineralization known in Karelia, the current state of this kind of mineral commodities at the world market leaves real metallogenic perspective only for V, U, Re, In, and Nb.

  7. Rare earths, the lanthanides, yttrium and scandium

    USGS Publications Warehouse

    Hedrick, J.B.

    2006-01-01

    In 2005, rare earths were not mined in the United States. The major supplier, Molycorp, continued to maintain a large stockpile of rare-earth concentrates and compounds. Consumption decreased of refined rare-earth products. The United States remained a major importer and exporter of rare earths in 2005. During the same period, yttrium was not mined or refined in the US. Hence, supply of yttrium compounds for refined yttrium products came from China, France and Japan. Scandium was not also mined. World production was primarily in China, Russia and Ukraine. Demand for rare earths in 2006 is expected to be closely tied to economic conditions in the US.

  8. Mineral resource of the month: rare earths

    USGS Publications Warehouse

    Hedrick, James B.

    2004-01-01

    As if classified as a top-secret project, the rare earths have been shrouded in secrecy. The principal ore mineral of the group, bastnäsite, rarely appears in the leading mineralogy texts. The long names of the rare-earth elements and some unusual arrangements of letters, many Scandinavian in origin, may have intimidated even those skilled in phonics. Somewhat obscurely labeled, the rare earths are neither rare nor earths (the historical term for oxides). They are a relatively abundant group of metallic elements that occur in nature as nonmetallic compounds and have hundreds of commercial applications.

  9. Rare Earth Element Mines, Deposits, and Occurrences

    USGS Publications Warehouse

    Orris, Greta J.; Grauch, Richard I.

    2002-01-01

    Data on rare earth (including yttrium) mines, deposits, and occurrences were compiled as part of an effort by the USGS and the University of Arizona Center for Mineral Resources to summarize current knowledge on the supply and demand outlook and related topics for this group of elements. Economic competition and environmental concerns are increasingly constraining the mining and processing of rare earths from the Mountain Pass mine in California. For many years, the deposit at Mountain Pass was the world's dominant source of rare earth elements and the United States was essentially self-sufficient. Starting approximately 10 years ago, the U.S. has become increasingly dependent (> 90 percent of separated rare earths) upon imports from China, now the dominant source of rare earths. A knowledge of the known economic and noneconomic sources of rare earths is basic to evaluating the outlook for rare earth supply and associated issues.

  10. Rare earth elements: end use and recyclability

    USGS Publications Warehouse

    Goonan, Thomas G.

    2011-01-01

    Rare earth elements are used in mature markets (such as catalysts, glassmaking, lighting, and metallurgy), which account for 59 percent of the total worldwide consumption of rare earth elements, and in newer, high-growth markets (such as battery alloys, ceramics, and permanent magnets), which account for 41 percent of the total worldwide consumption of rare earth elements. In mature market segments, lanthanum and cerium constitute about 80 percent of rare earth elements used, and in new market segments, dysprosium, neodymium, and praseodymium account for about 85 percent of rare earth elements used. Regardless of the end use, rare earth elements are not recycled in large quantities, but could be if recycling became mandated or very high prices of rare earth elements made recycling feasible.

  11. Production method for making rare earth compounds

    DOEpatents

    McCallum, R. William; Ellis, Timothy W.; Dennis, Kevin W.; Hofer, Robert J.; Branagan, Daniel J.

    1997-11-25

    A method of making a rare earth compound, such as a earth-transition metal permanent magnet compound, without the need for producing rare earth metal as a process step, comprises carbothermically reacting a rare earth oxide to form a rare earth carbide and heating the rare earth carbide, a compound-forming reactant (e.g. a transition metal and optional boron), and a carbide-forming element (e.g. a refractory metal) that forms a carbide that is more thermodynamically favorable than the rare earth carbide whereby the rare earth compound (e.g. Nd.sub.2 Fe.sub.14 B or LaNi.sub.5) and a carbide of the carbide-forming element are formed.

  12. Production method for making rare earth compounds

    DOEpatents

    McCallum, R.W.; Ellis, T.W.; Dennis, K.W.; Hofer, R.J.; Branagan, D.J.

    1997-11-25

    A method of making a rare earth compound, such as a earth-transition metal permanent magnet compound, without the need for producing rare earth metal as a process step, comprises carbothermically reacting a rare earth oxide to form a rare earth carbide and heating the rare earth carbide, a compound-forming reactant (e.g., a transition metal and optional boron), and a carbide-forming element (e.g., a refractory metal) that forms a carbide that is more thermodynamically favorable than the rare earth carbide whereby the rare earth compound (e.g., Nd{sub 2}Fe{sub 14}B or LaNi{sub 5}) and a carbide of the carbide-forming element are formed.

  13. Magnetic alignment study of rare-earth-containing liquid crystals.

    PubMed

    Galyametdinov, Yury G; Haase, Wolfgang; Goderis, Bart; Moors, Dries; Driesen, Kris; Van Deun, Rik; Binnemans, Koen

    2007-12-20

    The liquid-crystalline rare-earth complexes of the type [Ln(LH)3(DOS)3]-where Ln is Tb, Dy, Ho, Er, Tm, or Yb; LH is the Schiff base N-octadecyl-4-tetradecyloxysalicylaldimine; and DOS is dodecylsulfate-exhibit a smectic A phase. Because of the presence of rare-earth ions with a large magnetic anisotropy, the smectic A phase of these liquid crystals can be easier aligned in an external magnetic field than smectic A phases of conventional liquid crystals. The magnetic anisotropy of the [Ln(LH)3(DOS)3] complexes was determined by measurement of the temperature-dependence of the magnetic susceptibility using a Faraday balance. The highest value for the magnetic anisotropy was found for the dysprosium(III) complex. The magnetic alignment of these liquid crystals was studied by time-resolved synchrotron small-angle X-ray scattering experiments. Depending on the sign of the magnetic anisotropy, the director of the liquid-crystalline molecules was aligned parallel or perpendicular to the magnetic field lines. A positive value of the magnetic anisotropy (and parallel alignment) was found for the thulium(III) and the ytterbium(III) complexes, whereas a negative value of the magnetic anisotropy (and perpendicular alignment) was observed for the terbium(III) and dysprosium(III) complexes. PMID:18044875

  14. Adrenal Schwannoma: A Rare Incidentaloma.

    PubMed

    Kumar, Sumit; Karthikeyan, Vilvapathy S; Manohar, Chikkamoga S; Sreelakshmi, K; Shivalingaiah, Maregowda

    2016-08-01

    Adrenal schwannomas are very rare tumours that are difficult to diagnose preoperatively. A 42-year-old male presented with epigastric pain and indigestion. He had history of repeated operations for recurrent facial swelling on both sides of face diagnosed as Angiolymphoid Hyperplasia with Eosinophilia (ALHE). Physical examination revealed right facial swelling. Laboratory tests showed no evidence of hormonal hypersecretion. CECT abdomen showed a well-defined heterogenously enhancing right adrenal mass (5x4cm). Patient underwent right adrenalectomy. Histopathology revealed adrenal schwannoma, confirmed by immunohistochemistry (IHC) showing diffuse expression of S-100. Fine-needle aspiration biopsy of facial lesion confirmed ALHE recurrence. Less than 35 cases have been reported. Diagnosis of adrenal schwannoma on imaging studies is very difficult and surgical resection when performed for non-functioning adrenal masses >4cm clinches the diagnosis. Adrenal schwannoma is highly uncommon and was incidentally associated with recurrent ALHE. PMID:27656499

  15. Liposarcome dorsal: aspect clinique rare

    PubMed Central

    Agbessi, Odry; Arrob, Adil; Fiqhi, Kamal; Khalfi, Lahcen; Nassih, Mohammed; El Khatib, Karim

    2015-01-01

    Décrit la première fois par Virchow en 1860, le liposarcome est une tumeur mésenchymateuse rare. Cette rareté est relative car les liposarcomes représentent quand même 14 à 18% de l'ensemble des tumeurs malignes des parties molles et ils constituent le plus fréquent des sarcomes des parties molles. Pour la majorité des auteurs, il ne se développerait jamais sur un lipome ou une lipomatose préexistant. Nous rapportons un cas de volumineux liposarcome de la face dorsale du tronc. L'histoire de la maladie, l'aspect clinique inhabituel « de tumeur dans tumeur », l'aspect de la pièce opératoire nous fait évoquer la possibilité de la transformation maligne d'un lipome bénin préexistant. PMID:26113914

  16. Robinow Syndrome: A Rare Diagnosis

    PubMed Central

    Agarwalla, Sunil Kumar; Pradhan, Swayanprava

    2015-01-01

    Robinow syndrome is a rare entity characterized by short stature and abnormalities of the head, face and external genitalia. It is otherwise called ‘fetal face syndrome’ due to its resemblance with fetal face. We present an eight-year-old female child who came with mesomelic short stature, abnormal facial features, multiple sets of teeth (both deciduous and permanent), pectus excavatum, umbilical hernia, limb abnormalities like shortening of fore arm, simian crease, broad thumbs and other fingers, clinodactyly, abnormal carrying angle, absent labia minora, absent clitoris. Apart from physical appearance she was having diversification of recti and umbilical hernia. Due to the several physical presentation mild systemic involvement it was diagnosed as autosomal dominant robinow syndrome. She is now on follow up and planned for a cosmetic surgery to repair facial defects. PMID:26816964

  17. Epidemiological analysis of rare polydactylies

    SciTech Connect

    Castilla, E.E.; Fonseca, R.L. da; Dutra, M.G. da

    1996-11-11

    This work includes all cases with extra digits (polydactyly) registered from a birth sample of over four million births aggregated from two comparable birth series: the Latin-American Collaborative Study of Congenital Malformations: ECLAMC (3,128,957 live and still births from the 1967 to 1993 period), and the Spanish Collaborative Study of Congenital Malformations: ECEMC. All but 2 of 6,912 registered polydactyly cases fit well into one of the following 11 preestablished polydactyly types (observed number of cases in parentheses): Postaxial hexadactyly (5,345), Preaxial-I hexadactyly (1,018), Seven or more digits (57), synpolydactyly (15), crossed polydactyly (45), 1st digit triphalangism (33), 2nd digit duplication (39), 3rd digit duplication (18), 4th digit duplication (22), Haas polysyndactyly (3), and high degree of duplication (4). The birth prevalence rates observed in both series were similar except for postaxial polydactyly, which was more frequent in the ECLAMC (150.2/100,000) than in the ECEMC (67.4/100,000), as expected due to the higher African Black ethnic extraction of the South-American than of the Spanish populations. This similar frequency for the rare polydactylies (5.4 per 100,000 in South America and 5.7 in Spain), and for each one of the 9 categories, suggests that the values reported here are valid for most populations. The rare polydactylies are frequently syndromal: one third of them (77/236) were found in association with other congenital anomalies, 11.0% (26/236) in MCA cases and 21.6% (51/236) in recognized syndromes. 19 refs., 7 tabs.

  18. Selection and explosive growth alter genetic architecture and hamper the detection of causal rare variants

    PubMed Central

    Zaitlen, Noah A.; Ye, Chun Jimmie; Witte, John S.

    2016-01-01

    The role of rare alleles in complex phenotypes has been hotly debated, but most rare variant association tests (RVATs) do not account for the evolutionary forces that affect genetic architecture. Here, we use simulation and numerical algorithms to show that explosive population growth, as experienced by human populations, can dramatically increase the impact of very rare alleles on trait variance. We then assess the ability of RVATs to detect causal loci using simulations and human RNA-seq data. Surprisingly, we find that statistical performance is worst for phenotypes in which genetic variance is due mainly to rare alleles, and explosive population growth decreases power. Although many studies have attempted to identify causal rare variants, few have reported novel associations. This has sometimes been interpreted to mean that rare variants make negligible contributions to complex trait heritability. Our work shows that RVATs are not robust to realistic human evolutionary forces, so general conclusions about the impact of rare variants on complex traits may be premature. PMID:27197206

  19. Selection and explosive growth alter genetic architecture and hamper the detection of causal rare variants.

    PubMed

    Uricchio, Lawrence H; Zaitlen, Noah A; Ye, Chun Jimmie; Witte, John S; Hernandez, Ryan D

    2016-07-01

    The role of rare alleles in complex phenotypes has been hotly debated, but most rare variant association tests (RVATs) do not account for the evolutionary forces that affect genetic architecture. Here, we use simulation and numerical algorithms to show that explosive population growth, as experienced by human populations, can dramatically increase the impact of very rare alleles on trait variance. We then assess the ability of RVATs to detect causal loci using simulations and human RNA-seq data. Surprisingly, we find that statistical performance is worst for phenotypes in which genetic variance is due mainly to rare alleles, and explosive population growth decreases power. Although many studies have attempted to identify causal rare variants, few have reported novel associations. This has sometimes been interpreted to mean that rare variants make negligible contributions to complex trait heritability. Our work shows that RVATs are not robust to realistic human evolutionary forces, so general conclusions about the impact of rare variants on complex traits may be premature.

  20. Gallium poisoning: a rare case report.

    PubMed

    Ivanoff, Chris S; Ivanoff, Athena E; Hottel, Timothy L

    2012-02-01

    The authors present a case of a college student who suffered acute gallium poisoning as a result of accidental exposure to gallium halide complexes. This is extremely rare and has never been reported in the literature. Acute symptoms after the incident, which initially presented as dermatitis and appeared relatively not life-threatening, rapidly progressed to dangerous episodes of tachycardia, tremors, dyspnea, vertigo, and unexpected black-outs. Had there been effective emergency medical care protocols, diagnostic testing, treatment and antidotes, the latent manifestations of irreversible cardiomyopathy may have been prevented. Given how quickly exposure led to morbidity, this article aims to raise an awareness of the toxic potential of gallium. This has particular relevance for workers involved in the production of semiconductors where there is a potential for accidental exposure to gallium by-products during device processing. It may also have implications for dentists who use gallium alloys to replace mercury containing amalgam. In the absence of threshold limit values and exposure limits for humans, as well as emergency medical guidelines for treatment of poisoning, the case calls on the National Institute for Occupational Safety and Health and the Occupational Safety and Health Administration to establish guidelines and medical management protocols specific for gallium.

  1. Generalization of Rare Variant Association Tests for Longitudinal Family Studies.

    PubMed

    Chien, Li-Chu; Hsu, Fang-Chi; Bowden, Donald W; Chiu, Yen-Feng

    2016-02-01

    Given the functional relevance of many rare variants, their identification is frequently critical for dissecting disease etiology. Functional variants are likely to be aggregated in family studies enriched with affected members, and this aggregation increases the statistical power to detect rare variants associated with a trait of interest. Longitudinal family studies provide additional information for identifying genetic and environmental factors associated with disease over time. However, methods to analyze rare variants in longitudinal family data remain fairly limited. These methods should be capable of accounting for different sources of correlations and handling large amounts of sequencing data efficiently. To identify rare variants associated with a phenotype in longitudinal family studies, we extended pedigree-based burden (BT) and kernel (KS) association tests to genetic longitudinal studies. Generalized estimating equation (GEE) approaches were used to generalize the pedigree-based BT and KS to multiple correlated phenotypes under the generalized linear model framework, adjusting for fixed effects of confounding factors. These tests accounted for complex correlations between repeated measures of the same phenotype (serial correlations) and between individuals in the same family (familial correlations). We conducted comprehensive simulation studies to compare the proposed tests with mixed-effects models and marginal models, using GEEs under various configurations. When the proposed tests were applied to data from the Diabetes Heart Study, we found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes. PMID:26783077

  2. Generalization of Rare Variant Association Tests for Longitudinal Family Studies.

    PubMed

    Chien, Li-Chu; Hsu, Fang-Chi; Bowden, Donald W; Chiu, Yen-Feng

    2016-02-01

    Given the functional relevance of many rare variants, their identification is frequently critical for dissecting disease etiology. Functional variants are likely to be aggregated in family studies enriched with affected members, and this aggregation increases the statistical power to detect rare variants associated with a trait of interest. Longitudinal family studies provide additional information for identifying genetic and environmental factors associated with disease over time. However, methods to analyze rare variants in longitudinal family data remain fairly limited. These methods should be capable of accounting for different sources of correlations and handling large amounts of sequencing data efficiently. To identify rare variants associated with a phenotype in longitudinal family studies, we extended pedigree-based burden (BT) and kernel (KS) association tests to genetic longitudinal studies. Generalized estimating equation (GEE) approaches were used to generalize the pedigree-based BT and KS to multiple correlated phenotypes under the generalized linear model framework, adjusting for fixed effects of confounding factors. These tests accounted for complex correlations between repeated measures of the same phenotype (serial correlations) and between individuals in the same family (familial correlations). We conducted comprehensive simulation studies to compare the proposed tests with mixed-effects models and marginal models, using GEEs under various configurations. When the proposed tests were applied to data from the Diabetes Heart Study, we found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes.

  3. Gastric lactobezoar - a rare disorder?

    PubMed Central

    2012-01-01

    Gastric lactobezoar, a pathological conglomeration of milk and mucus in the stomach of milk-fed infants often causing gastric outlet obstruction, is a rarely reported disorder (96 cases since its first description in 1959). While most patients were described 1975-1985 only 26 children have been published since 1986. Clinically, gastric lactobezoars frequently manifest as acute abdomen with abdominal distension (61.0% of 96 patients), vomiting (54.2%), diarrhea (21.9%), and/or a palpable abdominal mass (19.8%). Respiratory (23.0%) and cardiocirculatory (16.7%) symptoms are not uncommon. The pathogenesis of lactobezoar formation is multifactorial: exogenous influences such as high casein content (54.2%), medium chain triglycerides (54.2%) or enhanced caloric density (65.6%) of infant milk as well as endogenous factors including immature gastrointestinal functions (66.0%), dehydration (27.5%) and many other mechanisms have been suggested. Diagnosis is easy if the potential presence of a gastric lactobezoar is thought of, and is based on a history of inappropriate milk feeding, signs of acute abdomen and characteristic features of diagnostic imaging. Previously, plain and/or air-, clear fluid- or opaque contrast medium radiography techniques were used to demonstrate a mass free-floating in the lumen of the stomach. This feature differentiates a gastric lactobezoar from intussusception or an abdominal neoplasm. Currently, abdominal ultrasound, showing highly echogenic intrabezoaric air trapping, is the diagnostic method of choice. However, identifying a gastric lactobezoar requires an investigator experienced in gastrointestinal problems of infancy as can be appreciated from the results of our review which show that in not even a single patient gastric lactobezoar was initially considered as a possible differential diagnosis. Furthermore, in over 30% of plain radiographs reported, diagnosis was initially missed although a lactobezoar was clearly demonstrable on repeat

  4. The burden of rare cancers in Europe.

    PubMed

    Gatta, Gemma; Capocaccia, Riccardo; Trama, Annalisa; Martínez-García, Carmen

    2010-01-01

    The burden of rare tumors in Europe is still unknown and no generally accepted definition of them exist. The Surveillance of Rare Cancers in Europe project (funded by the European Commission) aimed at providing a definition of "rare cancer", a list of cancers and rare cancer burden indicators, based on population-based cancer registry data, across Europe. An international consensus group agreed that incidence is the most appropriate indicator for measuring rare cancers frequency and set the threshold for rarity at 6/100,000/year. The list of rare cancers was based on the International Classification of Diseases for Oncology (ICD-O 3rd edition) and it was hierarchically structured in 2 layers based on various combinations of ICD-O morphology and topography codes: layer (1) families of tumors (relevant for the health care organisation) and layer (2) tumors clinically meaningful (relevant for clinical decision making and research). The burden indicators were estimated and are provided in this chapter.

  5. Rare Earth Metal Silicides and exotic Nuclei

    NASA Astrophysics Data System (ADS)

    Kriske, Richard

    2009-11-01

    The use of Rare Earth Metal Silicides has been seen in thermal detection since World War II. What results can be expected when Rare Earths are used with certain isotopes? More to the point can exotic isotopes of Rare Earths be made from what is known more recently about Hadrons and their construction? What if anything can be gained from manipulating isotopes with a more recent theory than that known around World War II?

  6. Rare earths, the lanthanides, yttrium and scandium

    USGS Publications Warehouse

    Bedinger, G.; Bleiwas, D.

    2012-01-01

    In 2011, rare earths were recovered from bastnasite concentrates at the Mountain Pass Mine in California. Consumption of refined rare-earth products decreased in 2011 from 2010. U.S. rare-earth imports originated primarily from China, with lesser amounts from Austria, Estonia, France and Japan. The United States imported all of its demand for yttrium metal and yttrium compounds, with most of it originating from China. Scandium was imported in various forms and processed domestically.

  7. Thrombosis in rare bleeding disorders.

    PubMed

    Ruiz-Sáez, Arlette

    2012-04-01

    Inherited deficiencies of blood coagulation factors are usually associated with lifelong bleeding tendency. In addition to Haemophilias A and B and von Willebrand disease, congenital deficiencies of such factors as fibrinogen, prothrombin (FII)), FV, FVII, FX, FXI, FXIII, and combined deficiencies occur and can lead to a diversity of clinical conditions. Paradoxically, for some of these disorders associated with significant bleeding tendency there are reports of thrombotic events, both arterial and venous. Thrombosis in hemophilia patients has a multifactorial pathogenesis and the main conditions associated with this complication are the use of long-term central venous catheters, intensive replacement therapy usually in the setting of surgical procedures, the use of bypassing agents or the coexistence of acquired or inherited prothrombotic risk factors. Regarding other rare bleeding disorders, thrombotic phenomena has been described particularly in patients with afibrinogenemia, FXI and FVII deficiency and the events can occur even in young patients, in the presence of concomitant risk factors or spontaneously. Replacement therapy must be individualized and should take into account past history of haemostatic challenges, family history of bleeding and thrombosis, just like the level of factor. For mild deficiencies when patients are asymptomatic the use of antithrombotic prophylaxis must be considered with or without concomitant use of replacement therapy. In patients with history of thrombosis it may be helpful to perform a thrombophilia screening to exclude coexisting prothrombotic defects and for all patients it is recommended to control known cardiovascular disease risk factors.

  8. Tale of two rare diseases.

    PubMed

    Shukla, Ravindra; Basu, Asish Kumar; Mandal, Biplab; Mukhopadhyay, Pradip; Maity, Animesh; Sinha, Anirban

    2013-10-01

    Idiopathic Hypogonadotropic hypogonadism (IHH) phenotype is variable &various genes have been decribed in association with IHH. We describe association of IHH with mosaic trisomy 13. A 20 year old male presented with lack of development of secondary sexual characters, normal height, micropenis, small testes, gynaecomastia, absence of axillary and pubic hairs, hyposmia, synkinesis, bilateral horizontal nystagmus and high arched palate. Investigations showed low gonadotropin, low total testosterone, LH after stimulation with 100 mcg tryptorelin sc was 11.42 mU/mL at 40 min. MRI of hypothalamo-pituitary region showed normal olfactory bulb and tract but shallow olfactory sulcus. Karyotype showed homologous Robertsonian translocation of chromosome 13. This case fits classical IHH except for LH rise on stimulation. Features of Patau syndrome which is associated with trisomy 13 are absent in our case. Mosaic trisomy 13, which can otherwise be rare incidental finding, has not been described in association with IHH. Causal association of novel mutation on chromosome 13 leading to aforementioned phenotype cannot be rule out. PMID:24251138

  9. Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

    PubMed Central

    Foster, B.L.; Ramnitz, M.S.; Gafni, R.I.; Burke, A.B.; Boyce, A.M.; Lee, J.S.; Wright, J.T.; Akintoye, S.O.; Somerman, M.J.; Collins, M.T.

    2014-01-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. PMID:24700690

  10. Rare bone diseases and their dental, oral, and craniofacial manifestations.

    PubMed

    Foster, B L; Ramnitz, M S; Gafni, R I; Burke, A B; Boyce, A M; Lee, J S; Wright, J T; Akintoye, S O; Somerman, M J; Collins, M T

    2014-07-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease.

  11. Improved method for preparing rare earth sesquichalcogenides

    DOEpatents

    Takeshita, T.; Beaudry, B.J.; Gschneidner, K.A. Jr.

    1982-04-14

    An improved method for the preparation of high purity rare earth sesquichalcogenides is described. The rare earth, as one or more pieces of the metal, is sealed under a vacuum with a stoichiometric amount of sulfur or selenium and a small amount of iodine into a quartz reaction vessel. The sealed vessel is then heated to above the vaporization temperature of the chalcogen and below the melting temperature of the rare earth metal and maintained until the product has been formed. The iodine is then vaporized off leaving a pure product. The rare earth sulfides and selenides thus formed are useful as semiconductors and as thermoelectric generators. 3 tables.

  12. Alaska's rare earth deposits and resource potential

    USGS Publications Warehouse

    Barker, James C.; Van Gosen, Bradley S.

    2012-01-01

    Alaska’s known mineral endowment includes some of the largest and highest grade deposits of various metals, including gold, copper and zinc. Recently, Alaska has also been active in the worldwide search for sources of rare earth elements (REE) to replace exports now being limitedby China. Driven by limited supply of the rare earths, combined with their increasing use in new ‘green’ energy, lighting, transportation, and many other technological applications, the rare earth metals neodymium, europium and, in particular, the heavy rare earth elements terbium, dysprosium and yttrium are forecast to soon be in critical short supply (U.S. Department of Energy, 2010).

  13. Mass Measurement with Rare-RI Rin

    NASA Astrophysics Data System (ADS)

    Ozawa, Akira

    2014-09-01

    Mass measurement with Rare-RI Ring in RIKEN RI Beam Factory (RIBF) will be presented. The main purpose of Rare-RI Ring is to measure the mass for very neutron-rich nuclei, the production rate of which is very small (rare RI) and the life-time of which is predicted to be very short (less than 10 ms). In Rare-RI Ring, mass measurements will be performed based on isochronous mass spectrometry. There are two innovative apparatus in Rare-RI Ring: individual injection, which can realize the injection of 200 A MeV rare RI one-by-one, and a cyclotron-like storage ring, which allows high isochronous magnetic fields with large angular and momentum acceptances (~1%). By these apparatus, we will achieve a 10-6 mass resolution, and will be able to access rare RI, the production rate of which is down to 1 event/day/pnA in RIBF. Construction of Rare-RI Ring has started from the 2012 fiscal year. Construction of the storage ring itself was almost completed. In this fiscal year, we succeeded to store alphas from 241Am source and to check the production of isochronous fields in the storage ring. In this talk, present status of Rare-RI Ring and the possible mass measurement there will be presented.

  14. Synthesis, structure, and physical properties of new rare earth ferrocenoylacetonates.

    PubMed

    Koroteev, Pavel S; Dobrokhotova, Zhanna V; Ilyukhin, Andrey B; Efimov, Nikolay N; Rouzières, Mathieu; Kiskin, Mikhail A; Clérac, Rodolphe; Novotortsev, Vladimir M

    2016-04-21

    New ferrocenoylacetonate complexes of several rare earth elements, [Ln(fca)3(bpy)]·MeC6H5 (Ln = Pr (), Eu (), Gd (), Tb (), Dy (), Ho (), Y (); bpy - 2,2'-bipyridine; Hfca - FcCOCH2COMe) as well as scandium ferrocenoylacetonate [Sc(fca)3]·0.5MeC6H5 (), were synthesized and characterized by single crystal X-ray diffraction analysis. In the crystal lattice of the isostructural complexes , two [Ln(fca)3(bpy)] molecules form a pair due to stacking interactions between the bpy ligands. The Ln(3+) ions are coordinated in a square antiprism geometry with a coordination number of 8. The Sc(3+) ions in complex are coordinated in an octahedral geometry. Thermolysis of complexes was studied under air and argon atmospheres; in the first case, it affords perovskites LnFeO3 as one of the products. Complexes display single-molecule magnet properties, and the effective relaxation barrier for the Dy complex , was found to be Δeff/kB = 241 K, which is one of the highest values obtained for a mononuclear β-diketonate lanthanide complex. PMID:26948276

  15. Rare Earth Nanoprobes for Functional Biomolecular Imaging and Theranostics

    PubMed Central

    Naczynski, Dominik J.; Tan, Mei Chee; Riman, Richard E.; Moghe, Prabhas V.

    2014-01-01

    Contrast agents designed to visualize the molecular mechanisms underlying cancer pathogenesis and progression have deepened our understanding of disease complexity and accelerated the development of enhanced drug strategies targeted to specific biochemical pathways. For the next generation probes and imaging systems to be viable, they must exhibit enhanced sensitivity and robust quantitation of morphologic and contrast features, while offering the ability to resolve the disease-specific molecular signatures that may be critical to reconstitute a more comprehensive portrait of pathobiology. This feature article provides an overview on the design and advancements of emerging biomedical optical probes in general and evaluates the promise of rare earth nanoprobes, in particular, for molecular imaging and theranostics. Combined with new breakthroughs in nanoscale probe configurations, and improved dopant compositions, and multimodal infrared optical imaging, rare-earth nanoprobes can be used to address a wide variety of biomedical challenges, including deep tissue imaging, real-time drug delivery tracking and multispectral molecular profiling. PMID:24921049

  16. Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis.

    PubMed

    Thomas, Anna K; Egelhoff, John C; Curran, John G; Thomas, Bobby

    2016-03-01

    Schwannomatosis is the third major form of neurofibromatosis, distinct from neurofibromatosis type 2 (NF2) and type 1 (NF1). This condition is rare with a variable phenotypic presentation and complex molecular and genetic findings. In this case, a previously healthy teenager was found to have multiple spinal lesions and an enhancing right parotid mass on MRI. On extensive further work-up, this patient met the existing clinical criteria for schwannomatosis. This case report aims to review the clinical features and current diagnostic criteria for schwannomatosis and compare it to NF1 and NF2. Special emphasis will be placed on imaging features that should prompt the radiologist to suggest this rare diagnosis. PMID:26546566

  17. Optic chiasmal cavernous angioma: A rare suprasellar vascular malformation

    PubMed Central

    Abou-Al-Shaar, Hussam; Bahatheq, Ayman; Takroni, Radwan; Al-Thubaiti, Ibrahim

    2016-01-01

    Background: Suprasellar cavernous malformation in the optic pathway is not commonly encountered. To date, there are only few reports present in the literature. Case Description: The authors report a rare case of suprasellar optic pathway cavernous malformation in a 33-year-old female who presented with progressive visual loss. Her imaging revealed a large heterogeneous, hyperintense, hemorrhagic right suprasellar extra-axial complex cystic structure, causing mass effect on the adjacent hypothalamus and third ventricle displacing these structures. Gross total resection of the lesion was achieved utilizing a right frontal craniotomy approach. Histopathological examination confirmed the diagnosis of suprasellar chiasmal cavernous malformation. Conclusion: Although visual pathway cavernous malformation is a rare event, it should be included in the differential diagnosis of lesions occurring suprasellarly in the visual pathway and hypothalamus. PMID:27583178

  18. Rare Case of Ovarian Cystic Lymphangioma Managed at Laparoscopy.

    PubMed

    Naik, Sejal Arunbhai

    2011-01-01

    Lymphangiomas are rare, usually benign tumors of the lymphatic system. Lymphangiomas may arise in any part of the body. Lymphangioma of the ovary is very rare tumor, which is usually slow-growing, remains asymptomatic for a long time, and identified incidentally at histopathological examination after excision. It is advisable to excise the lesion with microscopically clear margins. Many times, diagnosis becomes difficult because of confusion with malignant ovarian mass, especially in post-menopausal woman. A 72-year-old post-menopausal woman had a symptomatic pelvic mass. Imaging studies demonstrated a complex right ovarian cyst. Laparoscopic total hysterectomy with bilateral salpingo-oophorectomy was performed successfully. Cystic Lymphangioma should be included in the differential diagnosis of an ovarian cystic mass, and laparoscopic excision may be the method of treatment. PMID:26085753

  19. Rare Case of Ovarian Cystic Lymphangioma Managed at Laparoscopy

    PubMed Central

    Naik, Sejal Arunbhai

    2011-01-01

    Lymphangiomas are rare, usually benign tumors of the lymphatic system. Lymphangiomas may arise in any part of the body. Lymphangioma of the ovary is very rare tumor, which is usually slow-growing, remains asymptomatic for a long time, and identified incidentally at histopathological examination after excision. It is advisable to excise the lesion with microscopically clear margins. Many times, diagnosis becomes difficult because of confusion with malignant ovarian mass, especially in post-menopausal woman. A 72-year-old post-menopausal woman had a symptomatic pelvic mass. Imaging studies demonstrated a complex right ovarian cyst. Laparoscopic total hysterectomy with bilateral salpingo-oophorectomy was performed successfully. Cystic Lymphangioma should be included in the differential diagnosis of an ovarian cystic mass, and laparoscopic excision may be the method of treatment. PMID:26085753

  20. Rare Books As Teaching Tools

    NASA Astrophysics Data System (ADS)

    Gino, M. C.; Wise, G.

    2003-05-01

    The use of historic science illustrations in the classroom offers unique opportunities to meet the National Science Standard that "students should develop understanding of science as a human endeavor, of the nature of scientific knowledge, and of historical perspectives" (Content Standard G, Science Education Standards, 1996, National Academy Press, Washington, DC). The Dudley Observatory has launched an effort to use its outstanding collection of rare astronomy books to meet this challenge. The example featured here is the illustration "Systema Solare et Planetarium" from the book Atlas novus coelestis (1742) by Johann Gabriel Doppelmayr (1671-1750). This illustration is significant in the evolution of astronomy because it is one of the first popular depictions of the solar system picturing the planets in their accurate relative sizes and providing numerical estimates of planetary and solar dimensions and distances. Perhaps at least as important, from the educational viewpoint, it is visually appealing, culturally intriguing and filled with puzzling items that might serve as the basis for inquiry-based learning. For example, why is the page sprinkled with what appear to be appeals to theology ("Ex His Creatorem") and expressions of wonder or even horror ("perceptum horridem")? Why does its map of the world depict California as an island? A structure for using this and other historic illustrations in the classroom might be based on the following general questions: What is the purpose of the illustration? What is included that a modern scientist might leave out, or left out that a modern scientist might include? How accurate are the quantitative results presented? How does the conceptual treatment resemble and differ from modern treatments? Viewing the heavens as an 18th century astronomer wanted his public to see them is an excellent approach to achieving the humanistic and historical perspective that the educational standard seeks.

  1. Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease

    PubMed Central

    Collins, Christy

    2016-01-01

    As the parent and caregiver of a child with an ultra-rare disease and advocate for others with the same condition, I discuss the importance of phenotyping in rare disease research. I emphasize the need for more clinical geneticists, deeper and more intentional integration of clinical genetics in complex patient care, and a greater appreciation of patients and families as an informational resource. PMID:27047761

  2. A rare case of petrous apex osteoma.

    PubMed

    Cece, Hasan; Yildiz, Sema; Iynen, Ismail; Karakas, Omer; Karakas, Ekrem; Dogan, Ferit

    2012-06-01

    Osteomas are the most common tumours of the cranial vault and facial skeleton. Temporal bone osteoma is a rare entity. An osteoma arising from the petrous apex is extremely rare. We present a case of osteoma arising from the petrous apex followed by a discussion of the etiology, presentation, and radiologic findings.

  3. Hopes Dashed for Rare Bone Cancer Treatment

    MedlinePlus

    ... news/fullstory_160652.html Hopes Dashed for Rare Bone Cancer Treatment Extra chemo drugs failed to change course of ... t benefit patients with a rare type of bone cancer, according to a new ... teenagers. With current treatments, only 65 to 70 percent of patients live ...

  4. Ames Lab 101: Rare-Earth Recycling

    ScienceCinema

    Ryan Ott

    2016-07-12

    Recycling keeps paper, plastics, and even jeans out of landfills. Could recycling rare-earth magnets do the same? Perhaps, if the recycling process can be improved. Scientists at the U.S. Department of Energy's Ames Laboratory are working to more effectively remove the neodymium, a rare earth, from the mix of other materials in a magnet.

  5. Ames Lab 101: Rare-Earth Recycling

    SciTech Connect

    Ryan Ott

    2012-09-05

    Recycling keeps paper, plastics, and even jeans out of landfills. Could recycling rare-earth magnets do the same? Perhaps, if the recycling process can be improved. Scientists at the U.S. Department of Energy's Ames Laboratory are working to more effectively remove the neodymium, a rare earth, from the mix of other materials in a magnet.

  6. Pelvic fibromatoses--a rare gynecological entity.

    PubMed

    Buckshee, K; Mittal, S; Agarwal, N; Chellani, M

    1988-06-01

    A rare case of pelvic fibromatoses is reported. This condition is rarely encountered in gynecological practice but when encountered, creates a diagnostic and therapeutic challenge. The reported patient highlights the difficulties encountered in surgical excision (done twice) and illustrates the local aggressive growth behavior of this entity.

  7. Ternary rare earth-lanthanide sulfides

    DOEpatents

    Takeshita, Takuo; Gschneidner JR., Karl A.; Beaudry, Bernard J.

    1987-01-06

    A new ternary rare earth sulfur compound having the formula: where M is a rare earth element selected from the group europium, samarium and ytterbium and x=0.15 to 0.8. The compound has good high-temperature thermoelectric properties and exhibits long-term structural stability up to 1000.degree. C.

  8. A rare variant of knee dislocation

    PubMed Central

    HUSSIN, P.; MAWARDI, M.; AB HALIM, A.H.

    2016-01-01

    Knee dislocation is a rare injury. It represents less than 0.2% of orthopaedic injuries. This case reports a rare form of knee dislocation caused by the impact of a high-energy trauma. In these cases the appropriate assessment and management is needed to ensure that patient receives the proper treatment. PMID:27381692

  9. [RARE DISEASES DTC: DIAGNOSIS, TREATMENT AND CARE].

    PubMed

    Mendlovic, Joseph; Barash, Hila; Yardeni, Hadar; Banet-Levi, Yonit; Yonath, Hagith; Raas-Rothschild, Annick

    2016-04-01

    Rare diseases are chronic, progressive genetic disorders, which affect around 6-8% of the general population, mainly children. Therefore, in Israel approximately 500,000 people are probably affected by a rare disease. In this article, we review some of the issues pertaining to rare diseases, such as the need for accurate diagnosis which is necessary not only for specific care and treatment but also for informed family planning. In addition, we review the impact of the activities of patients' organizations on the awareness of rare diseases and their involvement in the creation of the Orphan Drug Act, which was the leading point on the way to drug development worldwide. During the last few years networks for reaching leading specialists' opinions on the way to proper diagnosis were created. Thereafter, the next generation genetic technologies, such as exome sequencing, have been a revolution in terms of options and hope for patients with rare undiagnosed diseases. Patients with rare diseases and their families are a challenge to the health care system, not only in terms of diagnosis and therapy, but also in terms of special needs. In addition, deciphering molecular pathways of rare diseases might be the key for understanding molecular events involved in common disorders. We emphasize the duty to ensure appropriate capacity and equal access to follow-up and clinical management of patients with rare diseases in Israel.

  10. [RARE DISEASES DTC: DIAGNOSIS, TREATMENT AND CARE].

    PubMed

    Mendlovic, Joseph; Barash, Hila; Yardeni, Hadar; Banet-Levi, Yonit; Yonath, Hagith; Raas-Rothschild, Annick

    2016-04-01

    Rare diseases are chronic, progressive genetic disorders, which affect around 6-8% of the general population, mainly children. Therefore, in Israel approximately 500,000 people are probably affected by a rare disease. In this article, we review some of the issues pertaining to rare diseases, such as the need for accurate diagnosis which is necessary not only for specific care and treatment but also for informed family planning. In addition, we review the impact of the activities of patients' organizations on the awareness of rare diseases and their involvement in the creation of the Orphan Drug Act, which was the leading point on the way to drug development worldwide. During the last few years networks for reaching leading specialists' opinions on the way to proper diagnosis were created. Thereafter, the next generation genetic technologies, such as exome sequencing, have been a revolution in terms of options and hope for patients with rare undiagnosed diseases. Patients with rare diseases and their families are a challenge to the health care system, not only in terms of diagnosis and therapy, but also in terms of special needs. In addition, deciphering molecular pathways of rare diseases might be the key for understanding molecular events involved in common disorders. We emphasize the duty to ensure appropriate capacity and equal access to follow-up and clinical management of patients with rare diseases in Israel. PMID:27323543

  11. [The observatory of rare malignant gynecologic tumors].

    PubMed

    Devouassoux-Shisheboran, Mojgan; Vacher-Lavenu, Marie-Cécile

    2014-02-01

    The observatory of gynecological rare tumors (TMRG) has been initially created for ovarian rare neoplasms (TMRO). Because of the similarities between ovarian and other gynecological tumors, this observatory has been then extended to all gynecological rare tumors. The recognition by INCa of three national expert centers (centre Léon-Bérard, hôpitaux de Paris, institut Gustave-Roussy) in rare gynecological cancers and a network of regional expert centers in 2010, expend the experience of the website "Observatoire francophone des tumeurs rares de l'ovaire". The major goals of this gynecology rare tumors experts network, are to promote systematic second opinion for initial diagnostic by experts in gynecopathology, systematic multidisciplinary advice by surgeons and medical oncologist experts, to disseminate clinical guidelines dedicated to rare gynecological tumors, to promote specific fundamental and translational research within clinical trials dedicated to rare tumors. At the end, we would like to improve benefit in term of survival and/or fertility for all these potential young patients.

  12. Rare Malignant Tumors of the Breast

    PubMed Central

    Miller, Trevor; Albarracin, Constance; Carkaci, Selin; Whitman, Gary J; Adrada, Beatriz E

    2015-01-01

    While the more common forms of breast cancer are well understood and recognized, there are many important rare malignancies that are less appreciated. Many of these cancers have imaging findings that, when understood, help to formulate a more educated differential diagnosis. In this article, the clinical features, imaging, and pathologic findings of rare breast malignancies will be discussed. PMID:26664775

  13. Rare Earth Elements: A Tool for Understanding the Behaviour of Trivalent Actinides in the Geosphere

    SciTech Connect

    Buil, Belen; Gomez, Paloma; Garralon, Antonio; Turrero, M. Jesus

    2007-07-01

    Rare earth element (REE) concentrations have been determined in groundwaters, granite and fracture fillings in a restored uranium mine. The granitoids normalized REE patterns of groundwaters show heavy rare earth elements (HREE)-enrichment and positive Eu anomalies. This suggests that the REE are fractionated during leaching from the source rocks by groundwaters. Preferential leaching of HREE would be consistent with the greater stability of their aqueous complexes compared to those of the light rare earth elements (LREE), together with the dissolution of certain fracture filling minerals, dissolution/alteration of phyllosilicates and colloidal transport. (authors)

  14. Rare Earth Metals: Resourcefulness and Recovery

    NASA Astrophysics Data System (ADS)

    Wang, Shijie

    2013-10-01

    When we appreciate the digital revolution carried over from the twentieth century with mobile communication and the Internet, and when we enjoy our high-tech lifestyle filled with iDevices, hybrid cars, wind turbines, and solar cells in this new century, we should also appreciate that all of these advanced products depend on rare earth metals to function. Although there are only 136,000 tons of annual worldwide demand, (Cho, Rare Earth Metals, Will We Have Enough?)1 rare earth metals are becoming such hot commodities on international markets, due to not only to their increasing uses, including in most critical military hardware, but also to Chinese growth, which accounts for 95% of global rare earth metal production. Hence, the 2013 technical calendar topic, planned by the TMS/Hydrometallurgy and Electrometallurgy Committee, is particularly relevant, with four articles (including this commentary) contributed to the JOM October Issue discussing rare earth metals' resourcefulness and recovery.

  15. A New Testing Strategy to Identify Rare Variants with Either Risk or Protective Effect on Disease

    PubMed Central

    Ionita-Laza, Iuliana; Buxbaum, Joseph D.

    2011-01-01

    Rapid advances in sequencing technologies set the stage for the large-scale medical sequencing efforts to be performed in the near future, with the goal of assessing the importance of rare variants in complex diseases. The discovery of new disease susceptibility genes requires powerful statistical methods for rare variant analysis. The low frequency and the expected large number of such variants pose great difficulties for the analysis of these data. We propose here a robust and powerful testing strategy to study the role rare variants may play in affecting susceptibility to complex traits. The strategy is based on assessing whether rare variants in a genetic region collectively occur at significantly higher frequencies in cases compared with controls (or vice versa). A main feature of the proposed methodology is that, although it is an overall test assessing a possibly large number of rare variants simultaneously, the disease variants can be both protective and risk variants, with moderate decreases in statistical power when both types of variants are present. Using simulations, we show that this approach can be powerful under complex and general disease models, as well as in larger genetic regions where the proportion of disease susceptibility variants may be small. Comparisons with previously published tests on simulated data show that the proposed approach can have better power than the existing methods. An application to a recently published study on Type-1 Diabetes finds rare variants in gene IFIH1 to be protective against Type-1 Diabetes. PMID:21304886

  16. Novel luminescent hybrids by incorporating rare earth β-diketonates into polymers through ion pairing with an imidazolium counter ion.

    PubMed

    Li, Qiu-Ping; Yan, Bing

    2013-09-01

    A series of luminescent polymers are synthesized by incorporating rare earth complex units into polymer matrices. Firstly, we functionalize the selected polymer matrices with the imidazolium moieties, and then introduce the rare earth tetrakis(β-diketonate) complexes into polymer matrices through a mild anion exchange method. The resulting materials are characterized by FTIR, XRD, EDAX, SEM, thermogravimetric analysis, luminescence excitation spectra and emission spectra, luminescence lifetime measurements and diffuse reflectance UV-Vis spectra. The photoluminescence measurements indicate that all these rare earth complex functionalized polymers exhibit a characteristic luminescence emission originating from the corresponding rare earth ions. Among the hybrids, the europium tetrakis(TTA) complex functionalized polymers show remarkable luminescence quantum yields and relatively long (5)D0 lifetimes at room temperature.

  17. A linkage disequilibrium-based approach to selecting disease-associated rare variants.

    PubMed

    Talluri, Rajesh; Shete, Sanjay

    2013-01-01

    Rare variants have increasingly been cited as major contributors in the disease etiology of several complex disorders. Recently, several approaches have been proposed for analyzing the association of rare variants with disease. These approaches include collapsing rare variants, summing rare variant test statistics within a particular locus to improve power, and selecting a subset of rare variants for association testing, e.g., the step-up approach. We found that (a) if the variants being pooled are in linkage disequilibrium, the standard step-up method of selecting the best subset of variants results in loss of power compared to a model that pools all rare variants and (b) if the variants are in linkage equilibrium, performing a subset selection using step-based selection methods results in a gain of power of association compared to a model that pools all rare variants. Therefore, we propose an approach to selecting the best subset of variants to include in the model that is based on the linkage disequilibrium pattern among the rare variants. The proposed linkage disequilibrium-based variant selection model is flexible and borrows strength from the model that pools all rare variants when the rare variants are in linkage disequilibrium and from step-based selection methods when the variants are in linkage equilibrium. We performed simulations under three different realistic scenarios based on: (1) the HapMap3 dataset of the DRD2 gene, and CHRNA3/A5/B4 gene cluster (2) the block structure of linkage disequilibrium, and (3) linkage equilibrium. We proposed a permutation-based approach to control the type 1 error rate. The power comparisons after controlling the type 1 error show that the proposed linkage disequilibrium-based subset selection approach is an attractive alternative method for subset selection of rare variants.

  18. Rare earth elements in Hamersley BIF minerals

    NASA Astrophysics Data System (ADS)

    Alibert, Chantal

    2016-07-01

    Minerals from the Hamersley banded iron formation, Western Australia, were analyzed for Y and rare earth elements (YREEs) by laser ablation ICP-MS to investigate diagenetic pathways, from precursor phases to BIF minerals. One group of apatites carries the seawater REE signature, giving evidence that P and REEs, thoroughly scavenged from the water column by Si-ferrihydrite particles, were released upon microbial Fe3+ reductive dissolution of Si-ferrihydrite in pore-water and finally sequestered mainly in authigenic apatite. The absence of fractionation between apatite and seawater suggests that REE were first incorporated into an amorphous calcium phosphate as fully hydrated cations, i.e. as outer-sphere complexes. The iron oxides and carbonates carry only a small fraction of the whole-rock REE budget. Their REE patterns are distinctly enriched in Yb and show some M-type tetrad effect consistent with experimental Kd(REE) between solid and saline solution with low carbonate ion concentrations. It is deduced that hematite formed at an incipient stage of Fe2+-catalyzed dissolution of Si-ferrihydrite, via a dissolution-reprecipitation pathway. The REE pattern of greenalite, found as sub-micron particles in quartz in a chert-siderite sample, is consistent with its authigenic origin by precipitation in pore-water after dissolution of a small amount of Si-ferrihydrite. Magnetite carries very low YREEs (ppb-level), has an homogeneous pattern distinctly enriched in the mid-REEs compared to hematite, and includes a late population depleted in light-REEs, Ba and As. Magnetite forming aggregates and massive laminae is tentatively interpreted as reflecting some fluid-aided hematite-magnetite re-equilibration or transformation at low-grade metamorphic temperatures.

  19. Rare and very rare adverse effects of clozapine

    PubMed Central

    De Fazio, Pasquale; Gaetano, Raffaele; Caroleo, Mariarita; Cerminara, Gregorio; Maida, Francesca; Bruno, Antonio; Muscatello, Maria Rosaria; Moreno, Maria Jose Jaén; Russo, Emilio; Segura-García, Cristina

    2015-01-01

    Clozapine (CLZ) is the drug of choice for the treatment of resistant schizophrenia; however, its suitable use is limited by the complex adverse effects’ profile. The best-described adverse effects in the literature are represented by agranulocytosis, myocarditis, sedation, weight gain, hypotension, and drooling; nevertheless, there are other known adverse effects that psychiatrists should readily recognize and manage. This review covers the “rare” and “very rare” known adverse effects of CLZ, which have been accurately described in literature. An extensive search on the basis of predefined criteria was made using CLZ and its combination with adverse effects as keywords in electronic databases. Data show the association between the use of CLZ and uncommon adverse effects, including ischemic colitis, paralytic ileus, hematemesis, gastroesophageal reflux disease, priapism, urinary incontinence, pityriasis rosea, intertriginous erythema, pulmonary thromboembolism, pseudo-pheochromocytoma, periorbital edema, and parotitis, which are influenced by other variables including age, early diagnosis, and previous/current pharmacological therapies. Some of these adverse effects, although unpredictable, are often manageable if promptly recognized and treated. Others are serious and potentially life-threatening. However, an adequate knowledge of the drug, clinical vigilance, and rapid intervention can drastically reduce the morbidity and mortality related to CLZ treatment. PMID:26273202

  20. Response of the rare biosphere to environmental stressors in a highly diverse ecosystem (Zodletone spring, OK, USA).

    PubMed

    Coveley, Suzanne; Elshahed, Mostafa S; Youssef, Noha H

    2015-01-01

    Within highly diverse ecosystems, the majority of bacterial taxa are present in low abundance as members of the rare biosphere. The rationale for the occurrence and maintenance of the rare biosphere, and the putative ecological role(s) and dynamics of its members within a specific ecosystem is currently debated. We hypothesized that in highly diverse ecosystems, a fraction of the rare biosphere acts as a backup system that readily responds to environmental disturbances. We tested this hypothesis by subjecting sediments from Zodletone spring, a sulfide- and sulfur-rich spring in Southwestern OK, to incremental levels of salinity (1, 2, 3, 4, and 10% NaCl), or temperature (28°, 30°, 32°, and 70 °C), and traced the trajectories of rare members of the community in response to these manipulations using 16S rRNA gene analysis. Our results indicate that multiple rare bacterial taxa are promoted from rare to abundant members of the community following such manipulations and that, in general, the magnitude of such recruitment is directly proportional to the severity of the applied manipulation. Rare members that are phylogenetically distinct from abundant taxa in the original sample (unique rare biosphere) played a more important role in the microbial community response to environmental disturbances, compared to rare members that are phylogenetically similar to abundant taxa in the original sample (non-unique rare biosphere). The results emphasize the dynamic nature of the rare biosphere, and highlight its complexity and non-monolithic nature.

  1. Application of vigilance research - Rare, medium, or well done?

    NASA Technical Reports Server (NTRS)

    Wiener, Earl L.

    1987-01-01

    In the years since Mackworth (1950) initiated research into problems of human vigilance, automated systems have become more complex and costly, with greater repercussions upon failure; this has led to a paradoxical enhancement of human monitoring's importance. Applications of vigilance research to well-designed systems that take human monitoring into account are rare, although the outlook for future systems is improving. Attention is presently given to problems encountered in considerations of signal rate, length of vigil, time decrements, and two examples of implementation from commercial aviation.

  2. Compositional and phase relations among rare earth element minerals

    NASA Technical Reports Server (NTRS)

    Burt, D. M.

    1989-01-01

    A review is presented that mainly treats minerals in which the rare-earth elements are essential constituents, e.g., bastnaesite, monazite, xenotime, aeschynite, allanite. The chemical mechanisms and limits of REE substitution in some rock-forming minerals (zircon, apatite, titanite, garnet) are also derived. Vector representation of complex coupled substitutions in selected REE-bearing minerals is examined and some comments on REE-partitioning between minerals as related to acid-based tendencies and mineral stabilities are presented. As the same or analogous coupled substitutions involving the REE occur in a wide variety of mineral structures, they are discussed together.

  3. Tuberous Sclerosis and Polycystic Kidney Disease: A Rare Association.

    PubMed

    Das, Shyamashis; Bala, Bapi Lal; Ray, Achintya Narayan; Sherpa, Pasang Lahmu; Kumar, Rajiv Ranjan

    2015-04-01

    Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We report a 26-year-old female patient with TSC who presented with severe metabolic acidosis due to renal failure. She had palpable enlarged kidneys bilaterally. CT scan of abdomen revealed bilateral enlarged lobulated kidneys studded with multiple cysts which was consistent with the diagnosis of ADPKD. PMID:26591174

  4. Mouse Models of Rare Craniofacial Disorders.

    PubMed

    Achilleos, Annita; Trainor, Paul A

    2015-01-01

    A rare disease is defined as a condition that affects less than 1 in 2000 individuals. Currently more than 7000 rare diseases have been documented, and most are thought to be of genetic origin. Rare diseases primarily affect children, and congenital craniofacial syndromes and disorders constitute a significant proportion of rare diseases, with over 700 having been described to date. Modeling craniofacial disorders in animal models has been instrumental in uncovering the etiology and pathogenesis of numerous conditions and in some cases has even led to potential therapeutic avenues for their prevention. In this chapter, we focus primarily on two general classes of rare disorders, ribosomopathies and ciliopathies, and the surprising finding that the disruption of fundamental, global processes can result in tissue-specific craniofacial defects. In addition, we discuss recent advances in understanding the pathogenesis of an extremely rare and specific craniofacial condition known as syngnathia, based on the first mouse models for this condition. Approximately 1% of all babies are born with a minor or major developmental anomaly, and individuals suffering from rare diseases deserve the same quality of treatment and care and attention to their disease as other patients. PMID:26589934

  5. A Rare Location of a Neuroendocrine Tumor

    PubMed Central

    Vasquez, Jonathan B; Zayat, Vania

    2016-01-01

    Neuroendocrine tumors (NETs) arising in the duodenum are rare neoplasms that are often classified as indolent and have a low potential to metastasize. Although rare, multiple reports cite an increasing incidence of duodenal NETs. Symptoms are usually nonspecific and the diagnosis is made via endoscopy. Endoscopic resection is the mainstay of therapy. The prognosis is usually favorable. We describe a case of a duodenal NET that presented with vague symptoms in order to increase the awareness of this rare but increasing in frequency entity. PMID:27774362

  6. The Facility for Rare Isotope Beams

    NASA Astrophysics Data System (ADS)

    Wrede, C.

    2015-05-01

    The Facility for Rare Isotope Beams (FRIB) is a United States Department of Energy user facility currently under construction on the campus of Michigan State University. Based on a 400 kW, 200 MeV/u heavy-ion driver linac, FRIB will deliver high-quality fast, thermalized, and re-accelerated beams of rare isotopes with unprecedented intensities to a variety of experimental areas and equipment. New science opportunities at the frontiers of nuclear structure, nuclear astrophysics, fundamental symmetries, and societal applications will be enabled by this future world-leading rare-isotope beam facility.

  7. Mediastinal angiomatosis: a rare case report

    PubMed Central

    Pak, Min Gyoung; Choi, Phil Jo; Choi, Won Suk; Kang, Eun Ju

    2015-01-01

    Angiomatosis refers to a rare condition of large hamartomatous vascular lesions that extensively affect a region of the body or several different tissue types in a contiguous way. Several cases have been reported in the mediastinum. We experienced a histologically proven case of mediastinal angiomatosis in a 56-year-old woman that was incidentally detected as multiple conglomerated masses mimicking metastatic lymph nodes on chest radiography. Despite its rareness, our case emphasizes that pathologists and radiologists need to be aware of the rare diagnosis of angiomatosis in the mediastinum. PMID:26793386

  8. Rare kaon, muon, and pion decay

    SciTech Connect

    Littenberg, L.

    1998-12-01

    The author discusses the status of and prospects for the study of rare decays of kaons, muons, and pions. Studies of rare kaon decays are entering an interesting new phase wherein they can deliver important short-distance information. It should be possible to construct an alternative unitarity triangle to that determined in the B sector, and thus perform a critical check of the Standard Model by comparing the two. Rare muon decays are beginning to constrain supersymmetric models in a significant way, and future experiments should reach sensitivities which this kind of model must show effects, or become far less appealing.

  9. Medical and Surgical Management of Carney Complex.

    PubMed

    Siordia, Juan A

    2015-07-01

    Carney complex is a rare, autosomal dominant genetic disorder that consists of multiple myxomatous lesions and endocrine abnormalities, including skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical disease, and acromegaly. This review discusses the medical and surgical treatment of patients with Carney complex. PMID:25996461

  10. Mimicking the magnetic properties of rare earth elements using superatoms.

    PubMed

    Cheng, Shi-Bo; Berkdemir, Cuneyt; Castleman, A W

    2015-04-21

    Rare earth elements (REs) consist of a very important group in the periodic table that is vital to many modern technologies. The mining process, however, is extremely damaging to the environment, making them low yield and very expensive. Therefore, mimicking the properties of REs in a superatom framework is especially valuable but at the same time, technically challenging and requiring advanced concepts about manipulating properties of atom/molecular complexes. Herein, by using photoelectron imaging spectroscopy, we provide original idea and direct experimental evidence that chosen boron-doped clusters could mimic the magnetic characteristics of REs. Specifically, the neutral LaB and NdB clusters are found to have similar unpaired electrons and magnetic moments as their isovalent REs (namely Nd and Eu, respectively), opening up the great possibility in accomplishing rare earth mimicry. Extension of the superatom concept into the rare earth group not only further shows the power and advance of this concept but also, will stimulate more efforts to explore new superatomic clusters to mimic the chemistry of these heavy atoms, which will be of great importance in designing novel building blocks in the application of cluster-assembled nanomaterials. Additionally, based on these experimental findings, a novel "magic boron" counting rule is proposed to estimate the numbers of unpaired electrons in diatomic LnB clusters. PMID:25848014

  11. Mimicking the magnetic properties of rare earth elements using superatoms

    PubMed Central

    Cheng, Shi-Bo; Berkdemir, Cuneyt; Castleman, A. W.

    2015-01-01

    Rare earth elements (REs) consist of a very important group in the periodic table that is vital to many modern technologies. The mining process, however, is extremely damaging to the environment, making them low yield and very expensive. Therefore, mimicking the properties of REs in a superatom framework is especially valuable but at the same time, technically challenging and requiring advanced concepts about manipulating properties of atom/molecular complexes. Herein, by using photoelectron imaging spectroscopy, we provide original idea and direct experimental evidence that chosen boron-doped clusters could mimic the magnetic characteristics of REs. Specifically, the neutral LaB and NdB clusters are found to have similar unpaired electrons and magnetic moments as their isovalent REs (namely Nd and Eu, respectively), opening up the great possibility in accomplishing rare earth mimicry. Extension of the superatom concept into the rare earth group not only further shows the power and advance of this concept but also, will stimulate more efforts to explore new superatomic clusters to mimic the chemistry of these heavy atoms, which will be of great importance in designing novel building blocks in the application of cluster-assembled nanomaterials. Additionally, based on these experimental findings, a novel “magic boron” counting rule is proposed to estimate the numbers of unpaired electrons in diatomic LnB clusters. PMID:25848014

  12. Mimicking the magnetic properties of rare earth elements using superatoms.

    PubMed

    Cheng, Shi-Bo; Berkdemir, Cuneyt; Castleman, A W

    2015-04-21

    Rare earth elements (REs) consist of a very important group in the periodic table that is vital to many modern technologies. The mining process, however, is extremely damaging to the environment, making them low yield and very expensive. Therefore, mimicking the properties of REs in a superatom framework is especially valuable but at the same time, technically challenging and requiring advanced concepts about manipulating properties of atom/molecular complexes. Herein, by using photoelectron imaging spectroscopy, we provide original idea and direct experimental evidence that chosen boron-doped clusters could mimic the magnetic characteristics of REs. Specifically, the neutral LaB and NdB clusters are found to have similar unpaired electrons and magnetic moments as their isovalent REs (namely Nd and Eu, respectively), opening up the great possibility in accomplishing rare earth mimicry. Extension of the superatom concept into the rare earth group not only further shows the power and advance of this concept but also, will stimulate more efforts to explore new superatomic clusters to mimic the chemistry of these heavy atoms, which will be of great importance in designing novel building blocks in the application of cluster-assembled nanomaterials. Additionally, based on these experimental findings, a novel "magic boron" counting rule is proposed to estimate the numbers of unpaired electrons in diatomic LnB clusters.

  13. New therapeutic targets in rare genetic skeletal diseases

    PubMed Central

    Briggs, Michael D; Bell, Peter A; Wright, Michael J; Pirog, Katarzyna A

    2015-01-01

    Introduction: Genetic skeletal diseases (GSDs) are a diverse and complex group of rare genetic conditions that affect the development and homeostasis of the skeleton. Although individually rare, as a group of related diseases, GSDs have an overall prevalence of at least 1 per 4,000 children. There are currently very few specific therapeutic interventions to prevent, halt or modify skeletal disease progression and therefore the generation of new and effective treatments requires novel and innovative research that can identify tractable therapeutic targets and biomarkers of these diseases. Areas covered: Remarkable progress has been made in identifying the genetic basis of the majority of GSDs and in developing relevant model systems that have delivered new knowledge on disease mechanisms and are now starting to identify novel therapeutic targets. This review will provide an overview of disease mechanisms that are shared amongst groups of different GSDs and describe potential therapeutic approaches that are under investigation. Expert opinion: The extensive clinical variability and genetic heterogeneity of GSDs renders this broad group of rare diseases a bench to bedside challenge. However, the evolving hypothesis that clinically different diseases might share common disease mechanisms is a powerful concept that will generate critical mass for the identification and validation of novel therapeutic targets and biomarkers. PMID:26635999

  14. Half-sandwich rare-earth-catalyzed olefin polymerization, carbometalation, and hydroarylation.

    PubMed

    Nishiura, Masayoshi; Guo, Fang; Hou, Zhaomin

    2015-08-18

    The search for new catalysts for more efficient, selective chemical transformations and for the synthesis of new functional materials has been a long-standing research subject in both academia and industry. To develop new generations of catalysts that are superior or complementary to the existing ones, exploring the potential of untapped elements is an important strategy. Rare-earth elements, including scandium, yttrium, and the lanthanides (La-Lu), constitute one important frontier in the periodic table. Rare-earth elements possess unique chemical and physical properties that are different from those of main-group and late-transition metals. The development of rare-earth-based catalysts by taking the advantage of these unique properties is of great interest and importance. The most stable oxidation state of rare-earth metals is 3+, which is difficult to change under many reaction conditions. The oxidative addition and reductive elimination processes often observed in catalytic cycles involving late transition metals are generally difficult in the case of rare-earth complexes. The 18-electron rule that is applicable to late-transition-metal complexes does not fit rare-earth complexes, whose structures are mainly governed by the sterics (rather than the electron numbers) of the ligands. In the lanthanide series (La-Lu), the ionic radius gradually decreases with increasing atomic number because of the influence of the 4f electrons, which show poor shielding of nuclear charge. Rare-earth metal ions generally show strong Lewis acidity and oxophilicity. Rare-earth metal alkyl and hydride species are highly reactive, showing both nucleophilicity and basicity. The combination of these features, such as the strong nucleophilicity and moderate basicity of the alkyl and hydride species and the high stability, strong Lewis acidity, and unsaturated C-C bond affinity of the 3+ metal ions, can make rare-earth metals unique candidates for the formation of excellent single

  15. Half-sandwich rare-earth-catalyzed olefin polymerization, carbometalation, and hydroarylation.

    PubMed

    Nishiura, Masayoshi; Guo, Fang; Hou, Zhaomin

    2015-08-18

    The search for new catalysts for more efficient, selective chemical transformations and for the synthesis of new functional materials has been a long-standing research subject in both academia and industry. To develop new generations of catalysts that are superior or complementary to the existing ones, exploring the potential of untapped elements is an important strategy. Rare-earth elements, including scandium, yttrium, and the lanthanides (La-Lu), constitute one important frontier in the periodic table. Rare-earth elements possess unique chemical and physical properties that are different from those of main-group and late-transition metals. The development of rare-earth-based catalysts by taking the advantage of these unique properties is of great interest and importance. The most stable oxidation state of rare-earth metals is 3+, which is difficult to change under many reaction conditions. The oxidative addition and reductive elimination processes often observed in catalytic cycles involving late transition metals are generally difficult in the case of rare-earth complexes. The 18-electron rule that is applicable to late-transition-metal complexes does not fit rare-earth complexes, whose structures are mainly governed by the sterics (rather than the electron numbers) of the ligands. In the lanthanide series (La-Lu), the ionic radius gradually decreases with increasing atomic number because of the influence of the 4f electrons, which show poor shielding of nuclear charge. Rare-earth metal ions generally show strong Lewis acidity and oxophilicity. Rare-earth metal alkyl and hydride species are highly reactive, showing both nucleophilicity and basicity. The combination of these features, such as the strong nucleophilicity and moderate basicity of the alkyl and hydride species and the high stability, strong Lewis acidity, and unsaturated C-C bond affinity of the 3+ metal ions, can make rare-earth metals unique candidates for the formation of excellent single

  16. Genetic and Rare Diseases Information Center

    MedlinePlus

    ... and Students guides/pages/99/teachers-and-students Teaching Resources News 1 In The Spotlight News Archive ... about rare or genetic diseases in English or Spanish. text go Browse Diseases View diseases by alphabetical ...

  17. Rare Decays at the LHCb Experiment

    NASA Astrophysics Data System (ADS)

    Pescatore, L.

    2015-06-01

    Rare decays of beauty and charm hadrons offer a rich playground to make precise tests of the Standard Model and look for New Physics at the level of quantum corrections. A review of recent LHCb results will be presented.

  18. International Rare Histiocytic Disorders Registry (IRHDR)

    ClinicalTrials.gov

    2016-04-25

    Rare Histiocytic Disorders (RHDs); Juvenile Xanthogranuloma (JXG); Reticulohistiocytoma (Epithelioid Histiocytoma); Xanthoma Disseminatum (XD); Multicentric Reticulohistiocytosis (MRH); Systemic Juvenile Xanthogranuloma; Erdheim-Chester Disease (ECD); Multi-system Rosai-Dorfman Disease (RDD)

  19. Ciliates and the rare biosphere: a review.

    PubMed

    Dunthorn, Micah; Stoeck, Thorsten; Clamp, John; Warren, Alan; Mahé, Frédéric

    2014-01-01

    Here we provide a brief review of the rare biosphere from the perspective of ciliates and other microbial eukaryotes. We trace research on rarity from its lack of much in-depth focus in morphological and Sanger sequencing projects, to its central importance in analyses using high throughput sequencing strategies. The problem that the rare biosphere is potentially comprised of mostly errors is then discussed in the light of asking community-comparative, novel-diversity, and ecosystem-functioning questions.

  20. Proteus syndrome: A rare case report.

    PubMed

    Talari, Keerthi; Subbanna, Praveen Kumar Arinaganhalli; Amalnath, Deepak; Suri, Subrahmanyam Dharanitragada Krishna

    2012-09-01

    Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands. PMID:23716948

  1. [Blepharitis--rare in systemic lupus erythematosus].

    PubMed

    Gyl, Fekete; Anna-Adrien, Csiszár; Oanţă, A; Irimie, M; Edit, Fekete Júlia

    2008-01-01

    Chronic lupus erythematosus often appear on the face, ears, and scalp. In exchange eyelids involvement as a chronic blepharitis is rare. We describe six cases of discoid lupus erythematosus with lesions on the face and ears who have eyelids involvement, too. Blepharitis is a rare involvement of the chronic lupus erythematosus and in case that is isolated, the diagnosis is belated and can lead to complications. The involvement of the lower eyelids is more frequently especially theirs lateral third.

  2. Hemorrhagic sarcoid pleural effusion: A rare entity

    PubMed Central

    Jha, Onkar; Nair, Vidya; Talwar, Deepak

    2016-01-01

    Involvement of pleura by sarcoidosis remains a rare manifestation and varies from pleural effusion, pneumothorax, pleural thickening, hydropneumothorax, trapped lung, hemothorax, or chylothorax. Sarcoid pleural effusions presenting as hemorrhagic effusions are even more rare. We report a case of active pulmonary sarcoidosis presenting as hemorrhagic pleural effusion requiring tissue diagnosis to rule out malignancy. The rarity of the presentation prompted us to report this case. PMID:27625449

  3. Juvenile xanthogranuloma: a rare benign histiocytic disorder

    PubMed Central

    Kozicka, Dorota; Purzycka-Bohdan, Dorota; Biernat, Wojciech; Stawczyk, Marta; Nowicki, Roman

    2014-01-01

    Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that typically affects children. The clinical presentation of this disease is characterized by single or, rarely, multiple yellow and brown skin nodules, most often found on the face and neck. Internal organ involvement has been sporadically observed in JXG and is associated with an increased risk of serious complications. We report two cases with a small and large nodular form of JXG. PMID:25097495

  4. Ternary rare earth-lanthanide sulfides

    DOEpatents

    Takeshita, Takuo; Gschneidner, Jr., Karl A.; Beaudry, Bernard J.

    1987-01-06

    A new ternary rare earth sulfur compound having the formula: La.sub.3-x M.sub.x S.sub.4 where M is a rare earth element selected from the group europium, samarium and ytterbium and x=0.15 to 0.8. The compound has good high-temperature thermoelectric properties and exhibits long-term structural stability up to 1000.degree. C.

  5. Hemorrhagic sarcoid pleural effusion: A rare entity

    PubMed Central

    Jha, Onkar; Nair, Vidya; Talwar, Deepak

    2016-01-01

    Involvement of pleura by sarcoidosis remains a rare manifestation and varies from pleural effusion, pneumothorax, pleural thickening, hydropneumothorax, trapped lung, hemothorax, or chylothorax. Sarcoid pleural effusions presenting as hemorrhagic effusions are even more rare. We report a case of active pulmonary sarcoidosis presenting as hemorrhagic pleural effusion requiring tissue diagnosis to rule out malignancy. The rarity of the presentation prompted us to report this case.

  6. Hemorrhagic sarcoid pleural effusion: A rare entity.

    PubMed

    Jha, Onkar; Nair, Vidya; Talwar, Deepak

    2016-01-01

    Involvement of pleura by sarcoidosis remains a rare manifestation and varies from pleural effusion, pneumothorax, pleural thickening, hydropneumothorax, trapped lung, hemothorax, or chylothorax. Sarcoid pleural effusions presenting as hemorrhagic effusions are even more rare. We report a case of active pulmonary sarcoidosis presenting as hemorrhagic pleural effusion requiring tissue diagnosis to rule out malignancy. The rarity of the presentation prompted us to report this case. PMID:27625449

  7. Carbonatite and alkaline intrusion-related rare earth element deposits–A deposit model

    USGS Publications Warehouse

    Verplanck, Philip L.; Van Gosen, Bradley S.

    2011-01-01

    The rare earth elements are not as rare in nature as their name implies, but economic deposits with these elements are not common and few deposits have been large producers. In the past 25 years, demand for rare earth elements has increased dramatically because of their wide and diverse use in high-technology applications. Yet, presently the global production and supply of rare earth elements come from only a few sources. China produces more than 95 percent of the world's supply of rare earth elements. Because of China's decision to restrict exports of these elements, the price of rare earth elements has increased and industrial countries are concerned about supply shortages. As a result, understanding the distribution and origin of rare earth elements deposits, and identifying and quantifying our nation's rare earth elements resources have become priorities. Carbonatite and alkaline intrusive complexes, as well as their weathering products, are the primary sources of rare earth elements. The general mineral deposit model summarized here is part of an effort by the U.S. Geological Survey's Mineral Resources Program to update existing models and develop new descriptive mineral deposit models to supplement previously published models for use in mineral-resource and mineral-environmental assessments. Carbonatite and alkaline intrusion-related REE deposits are discussed together because of their spatial association, common enrichment in incompatible elements, and similarities in genesis. A wide variety of commodities have been exploited from carbonatites and alkaline igneous rocks, such as rare earth elements, niobium, phosphate, titanium, vermiculite, barite, fluorite, copper, calcite, and zirconium. Other enrichments include manganese, strontium, tantalum, thorium, vanadium, and uranium.

  8. Rare phenotypes in domestic animals: unique resources for multiple applications.

    PubMed

    Leroy, G; Besbes, B; Boettcher, P; Hoffmann, I; Capitan, A; Baumung, R

    2016-04-01

    Preservation of specific and inheritable phenotypes of current or potential future importance is one of the main purposes of conservation of animal genetic resources. In this review, we investigate the issues behind the characterisation, utilisation and conservation of rare phenotypes, considering their multiple paths of relevance, variable levels of complexity and mode of inheritance. Accurately assessing the rarity of a given phenotype, especially a complex one, is not a simple task, because it requires the phenotypic and genetic characterisation of a large number of animals and populations and remains dependent of the scale of the study. Once characterised, specific phenotypes may contribute to various purposes (adaptedness, production, biological model, aesthetics, etc.) with adequate introgression programmes, which justifies the consideration of (real or potential) existence of such characteristics in in situ or ex situ conservation strategies. Recent biotechnological developments (genomic and genetic engineering) will undoubtedly bring important changes to the way phenotypes are characterised, introgressed and managed.

  9. Rare phenotypes in domestic animals: unique resources for multiple applications.

    PubMed

    Leroy, G; Besbes, B; Boettcher, P; Hoffmann, I; Capitan, A; Baumung, R

    2016-04-01

    Preservation of specific and inheritable phenotypes of current or potential future importance is one of the main purposes of conservation of animal genetic resources. In this review, we investigate the issues behind the characterisation, utilisation and conservation of rare phenotypes, considering their multiple paths of relevance, variable levels of complexity and mode of inheritance. Accurately assessing the rarity of a given phenotype, especially a complex one, is not a simple task, because it requires the phenotypic and genetic characterisation of a large number of animals and populations and remains dependent of the scale of the study. Once characterised, specific phenotypes may contribute to various purposes (adaptedness, production, biological model, aesthetics, etc.) with adequate introgression programmes, which justifies the consideration of (real or potential) existence of such characteristics in in situ or ex situ conservation strategies. Recent biotechnological developments (genomic and genetic engineering) will undoubtedly bring important changes to the way phenotypes are characterised, introgressed and managed. PMID:26662214

  10. California Rare Endemics and Climate Change

    NASA Astrophysics Data System (ADS)

    Espinoza, M.

    2010-12-01

    California is known for its wide variety of endemic flora, from its annuals such as the Eschscholzia californica (California poppy) to the perennials like the Arctostaphylos pallida (Alameda manzanita), which happens to be a rare species. Each species plays an important role in the biodiversity of California, yet there are species that are threatened, not only by human interaction and urbanization, but by climate change. Species that we seldom see are now on the verge of becoming eradicated; rare endemics similar to Arctostaphylos pallida are now facing a new challenge that may severely impair their survival. The climate has changed significantly over the twentieth century and it has affected the distribution of rare endemics in California, both geographically as well as within their climatic and edaphic niches. Lilaeopsis masonii is just one rare endemic, however it serves as a representative of the other 23 species that were studied. Using Maxent, a climate-modeling program, it was viable to construct two climate envelopes of the masonii species: the early century envelope (1930-1959) and the later century envelope (1990-2009). When these two climate envelopes were compared, it became clear that the later century climate envelope had contracted radically, reshaping the climate niche of all rare endemics in California due to an increase in temperature. It is possible to conclude that the future of rare endemics hangs in the balance, where one degree higher in temperature is enough to topple the scale.

  11. Rare cell isolation and analysis in microfluidics

    PubMed Central

    Chen, Yuchao; Li, Peng; Huang, Po-Hsun; Xie, Yuliang; Mai, John D.; Wang, Lin; Nguyen, Nam-Trung; Huang, Tony Jun

    2014-01-01

    Rare cells are low-abundance cells in a much larger population of background cells. Conventional benchtop techniques have limited capabilities to isolate and analyze rare cells because of their generally low selectivity and significant sample loss. Recent rapid advances in microfluidics have been providing robust solutions to the challenges in the isolation and analysis of rare cells. In addition to the apparent performance enhancements resulting in higher efficiencies and sensitivity levels, microfluidics provides other advanced features such as simpler handling of small sample volumes and multiplexing capabilities for high-throughput processing. All of these advantages make microfluidics an excellent platform to deal with the transport, isolation, and analysis of rare cells. Various cellular biomarkers, including physical properties, dielectric properties, as well as immunoaffinities, have been explored for isolating rare cells. In this Focus article, we discuss the design considerations of representative microfluidic devices for rare cell isolation and analysis. Examples from recently published works are discussed to highlight the advantages and limitations of the different techniques. Various applications of these techniques are then introduced. Finally, a perspective on the development trends and promising research directions in this field are proposed. PMID:24406985

  12. Cancer and bone: a complex complex.

    PubMed

    van Driel, Marjolein; van Leeuwen, Johannes P T M

    2014-11-01

    Primary and secondary bone cancers are rare events. However, once settled, a complex process is started involving an extensive amount of factors and interactions. The bone micro-environment is a preferential site for (metastatic) tumor cells to enter, stay, colonize and expand. The fact that the tumor cells affect the complete bone environment involving many cell types and regulatory pathways to stimulate their own growth and escape from therapy is devastating for the patient. Many efforts have been made to get more insight into the mechanisms underlying the communication between bone cells and cancer cells and progress is made in therapeutic interventions. This review will discuss the biological mechanisms of primary bone malignancies (osteosarcoma, Ewing's sarcoma, chondrosarcoma, multiple myeloma) and secondary bone malignancies (bone metastases) and therapeutic interventions.

  13. Carney complex: an update.

    PubMed

    Correa, Ricardo; Salpea, Paraskevi; Stratakis, Constantine A

    2015-10-01

    Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment and molecular etiology, including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing's syndrome. PMID:26130139

  14. Carney Complex: an update

    PubMed Central

    Correa, Ricardo; Salpea, Paraskevi; Stratakis, Constantine

    2015-01-01

    Carney Complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22–24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment, and molecular etiology including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing’s syndrome. PMID:26130139

  15. Complexity Survey.

    ERIC Educational Resources Information Center

    Gordon, Sandra L.; Anderson, Beth C.

    To determine whether consensus existed among teachers about the complexity of common classroom materials, a survey was administered to 66 pre-service and in-service kindergarten and prekindergarten teachers. Participants were asked to rate 14 common classroom materials as simple, complex, or super-complex. Simple materials have one obvious part,…

  16. An Operationally Simple Method for Separating the Rare-Earth Elements Neodymium and Dysprosium.

    PubMed

    Bogart, Justin A; Lippincott, Connor A; Carroll, Patrick J; Schelter, Eric J

    2015-07-01

    Rare-earth metals are critical components of electronic materials and permanent magnets. Recycling of consumer materials is a promising new source of rare earths. To incentivize recycling there is a clear need for simple methods for targeted separations of mixtures of rare-earth metal salts. Metal complexes of a tripodal nitroxide ligand [{(2-(t) BuNO)C6 H4 CH2 }3 N](3-) (TriNOx(3-) ), feature a size-sensitive aperture formed of its three η(2) -(N,O) ligand arms. Exposure of metal cations in the aperture induces a self-associative equilibrium comprising [M(TriNOx)thf]/ [M(TriNOx)]2 (M=rare-earth metal). Differences in the equilibrium constants (Keq ) for early and late metals enables simple Nd/Dy separations through leaching with a separation ratio SNd/Dy =359. PMID:26014901

  17. An Operationally Simple Method for Separating the Rare-Earth Elements Neodymium and Dysprosium.

    PubMed

    Bogart, Justin A; Lippincott, Connor A; Carroll, Patrick J; Schelter, Eric J

    2015-07-01

    Rare-earth metals are critical components of electronic materials and permanent magnets. Recycling of consumer materials is a promising new source of rare earths. To incentivize recycling there is a clear need for simple methods for targeted separations of mixtures of rare-earth metal salts. Metal complexes of a tripodal nitroxide ligand [{(2-(t) BuNO)C6 H4 CH2 }3 N](3-) (TriNOx(3-) ), feature a size-sensitive aperture formed of its three η(2) -(N,O) ligand arms. Exposure of metal cations in the aperture induces a self-associative equilibrium comprising [M(TriNOx)thf]/ [M(TriNOx)]2 (M=rare-earth metal). Differences in the equilibrium constants (Keq ) for early and late metals enables simple Nd/Dy separations through leaching with a separation ratio SNd/Dy =359.

  18. Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs)

    PubMed Central

    De Souza, Lorraine H.; Frank, Andrew O.

    2016-01-01

    Abstract Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and seating. Method: Retrospective review by a consultant in rehabilitation medicine of electronic and case note records of EPIOC recipients with RDs attending a specialist wheelchair service between June 2007 and September 2008. Data were systematically extracted, entered into a database and analysed under three themes; demographic, diagnostic/clinical (including comorbidity and associated clinical features (ACFs) of the illness/disability) and wheelchair factors. Results: Fifty-four (27 male) EPIOC users, mean age 37.3 (SD 18.6, range 11–70) with RDs were identified and reviewed a mean of 64 (range 0–131) months after receiving their wheelchair. Diagnoses included 27 types of RDs including Friedreich’s ataxia, motor neurone disease, osteogenesis imperfecta, arthrogryposis, cerebellar syndromes and others. Nineteen users had between them 36 comorbidities and 30 users had 44 ACFs likely to influence the prescription. Tilt-in-space was provided to 34 (63%) users and specialised seating to 17 (31%). Four users had between them complex control or interfacing issues. Conclusions: The complex and diverse clinical problems of those with RDs present unique challenges to the multiprofessional wheelchair team to maintain successful independent mobility and community living.Implications for RehabilitationPowered mobility is a major therapeutic tool for those with rare diseases enhancing independence, participation, reducing pain and other clinical features.The challenge for rehabilitation professionals is reconciling the physical disabilities with the individual’s need for function and participation whilst allowing for disease progression and/or growth.Powered wheelchair users with rare diseases with a (kypho) scoliosis require a wheelchair system that balances spine stability and movement to maximise

  19. Mineral resource of the month: rare earth elements

    USGS Publications Warehouse

    ,

    2011-01-01

    The article provides information on rare earth elements, which are group of 17 natural metallic elements. The rare earth elements are scandium, yttrium and lanthanides and classified into light rare earth elements (LREE) and heavy rate earth elements (HREE). The principal ores of the rare earth elements are identified. An overview of China's production of 97 percent of the rare earths in the world is provided. Commercial applications of rare earths are described.

  20. Rare earth elements and permanent magnets (invited)

    NASA Astrophysics Data System (ADS)

    Dent, Peter C.

    2012-04-01

    Rare earth (RE) magnets have become virtually indispensible in a wide variety of industries such as aerospace, automotive, electronics, medical, and military. RE elements are essential ingredients in these high performance magnets based on intermetallic compounds RECo5, RE2TM17 (TM: transition metal), and RE2TM14B. Rare earth magnets are known for their superior magnetic properties—high induction, and coercive force. These properties arise due to the extremely high magnetocrystalline anisotropy made possible by unique 3d-4f interactions between transition metals and rare earths. For more than 40 years, these magnets remain the number one choice in applications that require high magnetic fields in extreme operating conditions—high demagnetization forces and high temperature. EEC produces and specializes in RECo5 and RE2TM17 type sintered magnets. Samarium and gadolinium are key RE ingredients in the powder metallurgical magnet production processes which include melting, crushing, jet milling, pressing, sintering, and heat treating. The magnetic properties and applications of these magnets will be discussed. We will also briefly discuss the past, current, and future of the permanent magnet business. Currently, over 95% of all pure rare earth oxides are sourced from China, which currently controls the market. We will provide insights regarding current and potential new magnet technologies and designer choices, which may mitigate rare earth supply chain issues now and into the future.

  1. Locally rare species influence grassland ecosystem multifunctionality.

    PubMed

    Soliveres, Santiago; Manning, Peter; Prati, Daniel; Gossner, Martin M; Alt, Fabian; Arndt, Hartmut; Baumgartner, Vanessa; Binkenstein, Julia; Birkhofer, Klaus; Blaser, Stefan; Blüthgen, Nico; Boch, Steffen; Böhm, Stefan; Börschig, Carmen; Buscot, Francois; Diekötter, Tim; Heinze, Johannes; Hölzel, Norbert; Jung, Kirsten; Klaus, Valentin H; Klein, Alexandra-Maria; Kleinebecker, Till; Klemmer, Sandra; Krauss, Jochen; Lange, Markus; Morris, E Kathryn; Müller, Jörg; Oelmann, Yvonne; Overmann, Jörg; Pašalić, Esther; Renner, Swen C; Rillig, Matthias C; Schaefer, H Martin; Schloter, Michael; Schmitt, Barbara; Schöning, Ingo; Schrumpf, Marion; Sikorski, Johannes; Socher, Stephanie A; Solly, Emily F; Sonnemann, Ilja; Sorkau, Elisabeth; Steckel, Juliane; Steffan-Dewenter, Ingolf; Stempfhuber, Barbara; Tschapka, Marco; Türke, Manfred; Venter, Paul; Weiner, Christiane N; Weisser, Wolfgang W; Werner, Michael; Westphal, Catrin; Wilcke, Wolfgang; Wolters, Volkmar; Wubet, Tesfaye; Wurst, Susanne; Fischer, Markus; Allan, Eric

    2016-05-19

    Species diversity promotes the delivery of multiple ecosystem functions (multifunctionality). However, the relative functional importance of rare and common species in driving the biodiversity-multifunctionality relationship remains unknown. We studied the relationship between the diversity of rare and common species (according to their local abundances and across nine different trophic groups), and multifunctionality indices derived from 14 ecosystem functions on 150 grasslands across a land-use intensity (LUI) gradient. The diversity of above- and below-ground rare species had opposite effects, with rare above-ground species being associated with high levels of multifunctionality, probably because their effects on different functions did not trade off against each other. Conversely, common species were only related to average, not high, levels of multifunctionality, and their functional effects declined with LUI. Apart from the community-level effects of diversity, we found significant positive associations between the abundance of individual species and multifunctionality in 6% of the species tested. Species-specific functional effects were best predicted by their response to LUI: species that declined in abundance with land use intensification were those associated with higher levels of multifunctionality. Our results highlight the importance of rare species for ecosystem multifunctionality and help guiding future conservation priorities. PMID:27114572

  2. Locally rare species influence grassland ecosystem multifunctionality.

    PubMed

    Soliveres, Santiago; Manning, Peter; Prati, Daniel; Gossner, Martin M; Alt, Fabian; Arndt, Hartmut; Baumgartner, Vanessa; Binkenstein, Julia; Birkhofer, Klaus; Blaser, Stefan; Blüthgen, Nico; Boch, Steffen; Böhm, Stefan; Börschig, Carmen; Buscot, Francois; Diekötter, Tim; Heinze, Johannes; Hölzel, Norbert; Jung, Kirsten; Klaus, Valentin H; Klein, Alexandra-Maria; Kleinebecker, Till; Klemmer, Sandra; Krauss, Jochen; Lange, Markus; Morris, E Kathryn; Müller, Jörg; Oelmann, Yvonne; Overmann, Jörg; Pašalić, Esther; Renner, Swen C; Rillig, Matthias C; Schaefer, H Martin; Schloter, Michael; Schmitt, Barbara; Schöning, Ingo; Schrumpf, Marion; Sikorski, Johannes; Socher, Stephanie A; Solly, Emily F; Sonnemann, Ilja; Sorkau, Elisabeth; Steckel, Juliane; Steffan-Dewenter, Ingolf; Stempfhuber, Barbara; Tschapka, Marco; Türke, Manfred; Venter, Paul; Weiner, Christiane N; Weisser, Wolfgang W; Werner, Michael; Westphal, Catrin; Wilcke, Wolfgang; Wolters, Volkmar; Wubet, Tesfaye; Wurst, Susanne; Fischer, Markus; Allan, Eric

    2016-05-19

    Species diversity promotes the delivery of multiple ecosystem functions (multifunctionality). However, the relative functional importance of rare and common species in driving the biodiversity-multifunctionality relationship remains unknown. We studied the relationship between the diversity of rare and common species (according to their local abundances and across nine different trophic groups), and multifunctionality indices derived from 14 ecosystem functions on 150 grasslands across a land-use intensity (LUI) gradient. The diversity of above- and below-ground rare species had opposite effects, with rare above-ground species being associated with high levels of multifunctionality, probably because their effects on different functions did not trade off against each other. Conversely, common species were only related to average, not high, levels of multifunctionality, and their functional effects declined with LUI. Apart from the community-level effects of diversity, we found significant positive associations between the abundance of individual species and multifunctionality in 6% of the species tested. Species-specific functional effects were best predicted by their response to LUI: species that declined in abundance with land use intensification were those associated with higher levels of multifunctionality. Our results highlight the importance of rare species for ecosystem multifunctionality and help guiding future conservation priorities.

  3. Biogeochemistry of the rare-earth elements with particular reference to hickory trees

    USGS Publications Warehouse

    Robinson, W.O.; Bastron, H.; Murata, K.J.

    1958-01-01

    Hickory trees concentrate the rare-earth elements in their leaves to a phenomenal degree and may contain as much as 2300 p.p.m. of total rare earths based on the dry weight of the leaves. The average proportions of the individual elements (atomic percent of the total rare-earth elements) in the leaves are: Y 36, La 16, Ce 14, Pr 2, Nd 20, Sm 1, Eu 0.7, Gd 3, Tb 0.6, Dy 3, Ho 0.7, Er 2, Tm 0.2, Yb 1, and Lu 0.2. The similarity in the proportions of the rare-earth elements in the leaves and in the exchange complex of the soil on which the hickory trees grow indicates that the trees do not fractionate the rare earths appreciably. The variation of the rare-earth elements in the leaves and soils can be explained generally in terms of the relative abundance of the cerium group and the yttrium group, except for the element cerium. The large fluctuations in the proportion of cerium [Ce/(La + Nd) atomic ratios of 0.16 to 0.86] correlate with oxidation-reduction conditions in the soil profile. The substitution of dilute H2SO3 for dilute HC1 in the determination of available rare-earth elements brings about a large increase in the proportion of cerium that is extracted from an oxygenated subsoil. These relationships strongly suggest that quadrivalent cerium is present in oxygenated subsoil and is less available to plants than the other rare-earth elements that do not undergo such a change in valence. A few parts per billion of rare-earth elements have been detected in two samples of ground water. ?? 1958.

  4. Kullback-Leibler divergence for detection of rare haplotype common disease association.

    PubMed

    Lin, Shili

    2015-11-01

    Rare haplotypes may tag rare causal variants of common diseases; hence, detection of such rare haplotypes may also contribute to our understanding of complex disease etiology. Because rare haplotypes frequently result from common single-nucleotide polymorphisms (SNPs), focusing on rare haplotypes is much more economical compared with using rare single-nucleotide variants (SNVs) from sequencing, as SNPs are available and 'free' from already amassed genome-wide studies. Further, associated haplotypes may shed light on the underlying disease causal mechanism, a feat unmatched by SNV-based collapsing methods. In recent years, data mining approaches have been adapted to detect rare haplotype association. However, as they rely on an assumed underlying disease model and require the specification of a null haplotype, results can be erroneous if such assumptions are violated. In this paper, we present a haplotype association method based on Kullback-Leibler divergence (hapKL) for case-control samples. The idea is to compare haplotype frequencies for the cases versus the controls by computing symmetrical divergence measures. An important property of such measures is that both the frequencies and logarithms of the frequencies contribute in parallel, thus balancing the contributions from rare and common, and accommodating both deleterious and protective, haplotypes. A simulation study under various scenarios shows that hapKL has well-controlled type I error rates and good power compared with existing data mining methods. Application of hapKL to age-related macular degeneration (AMD) shows a strong association of the complement factor H (CFH) gene with AMD, identifying several individual rare haplotypes with strong signals.

  5. Crystallizing galactocele: Report of a rare variation.

    PubMed

    Shetty, Archana; Narasimha, Aparna; Jayalakshmi, V J

    2016-07-28

    The physiological changes of the breast during pregnancy and lactation make the clinical, radiological and pathological evaluation of a breast mass challenging. Galactoceles are benign lesions containing milk, and generally occur post partum. Fine needle aspiration cytology is a simple, quick and effective technique for the diagnosis of the same during this period, and in case of galactocele the same can be both diagnostic and therapeutic.Although the cytological features of galactocele are straight forward, a few rare interesting variations can be encountered posing a diagnostic challenge to the reporting cytopathologist. We present a case of galactocele in a twenty five year old lactating female with tyrosine crystals on cytology. Milk is composed of a wide variety of proteins and minerals, leading to the formation of calcium lactate or tyrosine crystals under rare circumstances when the milieu is acidic. This is one of the rare cases of crystallizing galactoceles reported in literature till date. PMID:27662275

  6. Cancer genomics: why rare is valuable.

    PubMed

    Jamshidi, Farzad; Nielsen, Torsten O; Huntsman, David G

    2015-04-01

    Rare conditions are sometimes ignored in biomedical research because of difficulties in obtaining specimens and limited interest from fund raisers. However, the study of rare diseases such as unusual cancers has again and again led to breakthroughs in our understanding of more common diseases. It is therefore unsurprising that with the development and accessibility of next-generation sequencing, much has been learnt from studying cancers that are rare and in particular those with uniform biological and clinical behavior. Herein, we describe how shotgun sequencing of cancers such as granulosa cell tumor, endometrial stromal sarcoma, epithelioid hemangioendothelioma, ameloblastoma, small-cell carcinoma of the ovary, clear-cell carcinoma of the ovary, nonepithelial ovarian tumors, chondroblastoma, and giant cell tumor of the bone has led to rapidly translatable discoveries in diagnostics and tumor taxonomies, as well as providing insights into cancer biology. PMID:25676695

  7. An Erupted Dilated Odontoma: A Rare Presentation.

    PubMed

    Sharma, Gaurav; Nagra, Amritpreet; Singh, Gurkeerat; Nagpal, Archna; Soin, Atul; Bhardwaj, Vishal

    2016-01-01

    A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature.

  8. Rare gases in cyclosilicates and cogenetic minerals

    NASA Technical Reports Server (NTRS)

    Saito, K.; Alexander, E. C., Jr.; Dragon, J. C.; Zashu, S.

    1984-01-01

    The cyclosilicate minerals, beryl, tourmaline, and cordierite, typically contain large amounts of He-4 and Ar-40 which are not in situ radiogenic products. In the study of excess rare gases in cyclosilicates, one of the most enigmatic observations is the age effect, a qualitative tendency for geologically older samples to contain more excess He-4 and Ar-40 than younger samples. The present investigation is concerned with measurements regarding the abundance and isotopic composition of all five rare gases in a number of cyclosilicates as well as in their cogenetic minerals. The significance of the obtained data is discussed. The data indicate that cyclosilicates sample the rare gases present in the environment in which they crystallize. This 'sampling' involves major elemental fractionations which are variable but mineral specific. Cyclosilicates can, therefore, be used to probe the isotopic ratios and elemental compositions.

  9. Rare earth phosphors and phosphor screens

    DOEpatents

    Buchanan, Robert A.; Maple, T. Grant; Sklensky, Alden F.

    1981-01-01

    This invention relates to rare earth phosphor screens for converting image carrying incident radiation to image carrying visible or near-visible radiation and to the rare earth phosphor materials utilized in such screens. The invention further relates to methods for converting image carrying charged particles to image carrying radiation principally in the blue and near-ultraviolet region of the spectrum and to stabilized rare earth phosphors characterized by having a continuous surface layer of the phosphors of the invention. More particularly, the phosphors of the invention are oxychlorides and oxybromides of yttrium, lanthanum and gadolinium activated with trivalent cerium and the conversion screens are of the type illustratively including x-ray conversion screens, image amplifier tube screens, neutron imaging screens, cathode ray tube screens, high energy gamma ray screens, scintillation detector screens and screens for real-time translation of image carrying high energy radiation to image carrying visible or near-visible radiation.

  10. Material efficiency: rare and critical metals.

    PubMed

    Ayres, Robert U; Peiró, Laura Talens

    2013-03-13

    In the last few decades, progress in electronics, especially, has resulted in important new uses for a number of geologically rare metals, some of which were mere curiosities in the past. Most of them are not mined for their own sake (gold, the platinum group metals and the rare Earth elements are exceptions) but are found mainly in the ores of the major industrial metals, such as aluminium, copper, zinc and nickel. We call these major metals 'attractors' and the rare accompanying metals 'hitch-hikers'. The key implication is that rising prices do not necessarily call forth greater output because that would normally require greater output of the attractor metal. We trace the geological relationships and the functional uses of these metals. Some of these metals appear to be irreplaceable in the sense that there are no known substitutes for them in their current functional uses. Recycling is going to be increasingly important, notwithstanding a number of barriers. PMID:23359734

  11. An Erupted Dilated Odontoma: A Rare Presentation

    PubMed Central

    Sharma, Gaurav; Nagra, Amritpreet; Singh, Gurkeerat; Nagpal, Archna; Soin, Atul; Bhardwaj, Vishal

    2016-01-01

    A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature. PMID:26989523

  12. Collaboration for rare disease drug discovery research

    PubMed Central

    Litterman, Nadia K.; Rhee, Michele; Swinney, David C.; Ekins, Sean

    2014-01-01

    Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives. PMID:25685324

  13. Collaboration for rare disease drug discovery research.

    PubMed

    Litterman, Nadia K; Rhee, Michele; Swinney, David C; Ekins, Sean

    2014-01-01

    Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives. PMID:25685324

  14. Meningeal fibroma: a rare meningioma mimic.

    PubMed

    Kakkar, Aanchal; Sharma, Mehar C; Goyal, Nishant; Sarkar, Chitra; Suri, Vaishali; Garg, Ajay; Kale, Shashank S; Suri, Ashish

    2014-08-01

    Meningeal fibromas are rare intracranial tumors that mimic meningiomas radiologically as well as histologically. The authors report 2 cases of meningeal fibroma with detailed clinical, radiological, histopathological, and immunohistochemical features, and discuss the differential diagnosis of this entity. Knowledge of this rare tumor is essential for pathologists to be able distinguish it from more common meningeal tumors, especially in younger patients. This knowledge is also essential for neurosurgeons, as incomplete resection may lead to tumor recurrence, and such patients require close follow-up.

  15. A rare cause of cavitatory pneumonia.

    PubMed

    Harsha, N S; Sandeepa, H S; Hemantha Kumar, S; Prakash, B; Jayalakshmi, K

    2016-01-01

    Radiographic findings of thick walled cavities in the lungs are typically seen in mycobacterial infections, malignant lesions, fungal infections, pulmonary vasculitis or other inflammatory lesions of the lungs. Necrotizing infections of the lungs caused by gram negative bacteria (Klebsiella, Psudomonas, Legionella) and Staphylococcus aureus may also form cavities of varying thickness, with consolidation. Escherichia coli pneumonia causing pulmonary cavities is very rare and the few cases reported are of pneumatocele formation. Here we present an unusual case of Escherichia coli infection as a rare cause of bilateral cavitating necrotizing pneumoniae, in a 67 year old male with uncontrolled type 2 diabetes mellitus. PMID:27672553

  16. Zosteriform spiradenoma with spiradenocarcinoma: A rare entity.

    PubMed

    Adulkar, Satish A; Dongre, Atul M; Khopkar, Uday S; Maddala, Raghuram; Gole, Prachi V; Chikhalkar, Siddhi

    2015-12-01

    Eccrine spiradenoma (ES) is an uncommon well-differentiated benign tumor originating from the sweat glands. It usually occurs as a single lesion in adults. Multiple ES in a linear or zosteriform distribution are rare. Spiradenomacarcinoma is an extremely rare tumor, which develops in an existing benign spiradenoma of several years of duration. We report a case of a 23-year-old- female patient with multiple spiradenomas arranged in zosteriform pattern and malignant transformation occurred in one of the lesions over a period of 10 years. PMID:26904446

  17. Exciton induced photodesorption in rare gas solids

    NASA Astrophysics Data System (ADS)

    Hirayama, Takato; Arakawa, Ichiro

    2006-08-01

    This paper reviews our progress on the desorption induced by electronic transitions (DIET) in rare gas solids by selective excitation of valence excitons. Observation of metastable atoms desorbed by excitonic excitation gives us direct information on the exciton-induced desorption processes in rare gas solids. The validity of three desorption mechanisms, cavity ejection, excimer dissociation, and internal sputtering, is demonstrated by systematic measurements of kinetic energies and angular distributions of desorbed particles. The absolute yield of total and partial desorption was measured, which can lead us to the quantitative understanding of exciton-induced desorption processes.

  18. Replacing the Rare Earth Intellectual Capital

    SciTech Connect

    Gschneidner, Jr., Karl

    2011-04-01

    The rare earth crisis slowly evolved during a 10 to 15 year period beginning in the mid-1980s, when the Chinese began to export mixed rare earth concentrates. In the early 1990s, they started to move up the supply chain and began to export the individual rare earth oxides and metals. By the late 1990s the Chinese exported higher value products, such as magnets, phosphors, polishing compounds, catalysts; and in the 21st century they supplied finished products including electric motors, computers, batteries, liquid-crystal displays (LCDs), TVs and monitors, mobile phones, iPods and compact fluorescent lamp (CFL) light bulbs. As they moved to higher value products, the Chinese slowly drove the various industrial producers and commercial enterprises in the US, Europe and Japan out of business by manipulating the rare earth commodity prices. Because of this, the technically trained rare earth engineers and scientists who worked in areas from mining to separations, to processing to production, to manufacturing of semifinished and final products, were laid-off and moved to other fields or they retired. However, in the past year the Chinese have changed their philosophy of the 1970s and 1980s of forming a rare earth cartel to control the rare earth markets to one in which they will no longer supply the rest of the world (ROW) with their precious rare earths, but instead will use them internally to meet the growing demand as the Chinese standard of living increases. To this end, they have implemented and occasionally increased export restrictions and added an export tariff on many of the high demand rare earth elements. Now the ROW is quickly trying to start up rare earth mines, e.g. Molycorp Minerals in the US and Lynas Corp. in Australia, to cover this shortfall in the worldwide market, but it will take about five years for the supply to meet the demand, even as other mines in the ROW become productive. Unfortunately, today there is a serious lack of technically trained

  19. Rare neuroendocrine tumours: results of the surveillance of rare cancers in Europe project.

    PubMed

    van der Zwan, Jan Maarten; Trama, Annalisa; Otter, Renée; Larrañaga, Nerea; Tavilla, Andrea; Marcos-Gragera, Rafael; Dei Tos, Angelo Paolo; Baudin, Eric; Poston, Graeme; Links, Thera

    2013-07-01

    Because of the low incidence, and limited opportunities for large patient volume experiences, there are very few relevant studies of neuroendocrine tumours (NETs). A large population-based database (including cancer patients diagnosed from 1978 to 2002 and registered in 76 population-based cancer registries [CRs]), provided by the project 'surveillance of rare cancers in Europe' (RARECARE) is used to describe the basic indicators of incidence, prevalence and survival of NETs, giving a unique overview on the burden of NETs in Europe. NETs at all cancer sites, excluding lung, were analysed in this study. In total over 20,000 incident cases of NETs were analysed and a data quality check upon specific NETs was performed. The overall incidence rate for NETs was 25/1,000,000 and was highest in patients aged 65 years and older with well differentiated endocrine carcinomas (non-functioning pancreatic and gastrointestinal) (40 per 1,000,000). We estimated that slightly more than 100,000 people were diagnosed with NETs and still alive in EU27 at the beginning of 2008. Overall, NETs had a 5 year relative survival of 50%; survival was low (12%) for poorly differentiated endocrine carcinoma, and relatively high (64%) for well differentiated carcinoma (not functioning of the pancreas and digestive organs). Within NETs, endocrine carcinoma of thyroid gland had the best 5-year relative survival (82%). Because of the complexity and number of the different disciplines involved with NETs (as they arise in many organs), a multidisciplinary approach delivered in highly qualified reference centres and an international network between those centres is recommended.

  20. Complex derivatives

    NASA Astrophysics Data System (ADS)

    Battiston, Stefano; Caldarelli, Guido; Georg, Co-Pierre; May, Robert; Stiglitz, Joseph

    2013-03-01

    The intrinsic complexity of the financial derivatives market has emerged as both an incentive to engage in it, and a key source of its inherent instability. Regulators now faced with the challenge of taming this beast may find inspiration in the budding science of complex systems.

  1. Designing Complexity

    ERIC Educational Resources Information Center

    Glanville, Ranulph

    2007-01-01

    This article considers the nature of complexity and design, as well as relationships between the two, and suggests that design may have much potential as an approach to improving human performance in situations seen as complex. It is developed against two backgrounds. The first is a world view that derives from second order cybernetics and radical…

  2. [Vulval tuberculosis: a rare case report].

    PubMed

    Amhager, N; Bouguern, H; Jayi, S; Bouchikhi, C; Belkheiri, M; Chaara, H; Bannani, A; Melhouf, M-A

    2007-02-01

    The authors report an observation of a rare case of vulvar tuberculosis in its hypertrophic form it is observed in a 16-years-old girl. The diagnosis was retained on a beam of arguments anamnestic, clinical, histological and evolutionary. A medical treatment based on antibacillar was founded supplemented of a surgical reduction for aesthetic concern. PMID:17293256

  3. Familial dyskeratotic comedones: A rare entity.

    PubMed

    Maddala, Raghu Ram; Ghorpade, Ashok; Polavarpu, Mercy; Adulkar, Satish A; Das, Manbendra

    2016-01-01

    Familial dyskeratotic comedones is an inherited disorder with distinctive clinical features and a disease course that is refractory to treatment. It is clinically characterized by numerous, discrete, disseminate, hyperkeratotic papules and comedones. On histopathology, it shows crater-like invaginations filled with keratinous material and evidence of dyskeratosis. We report here one family from central India with this rare disorder. PMID:26953840

  4. Crystalline rare-earth activated oxyorthosilicate phosphor

    DOEpatents

    McClellan, Kenneth J.; Cooke, D. Wayne

    2004-02-10

    Crystalline, transparent, rare-earth activated lutetium oxyorthosilicate phosphor. The phosphor consists essentially of lutetium yttrium oxyorthosilicate activated with a rare-earth metal dopant M and having the general formula Lu(.sub.2-x-z)Y.sub.x M.sub.z SiO.sub.5, wherein 0.00.ltoreq.x.ltoreq.1.95, wherein 0.001.ltoreq.z.ltoreq.0.02, and wherein M is selected from Sm, Tb, Tm, Eu, Yb, and Pr. The phosphor also consists essentially of lutetium gadolinium oxyorthosilicate activated with a rare-earth metal dopant M and having the general formula Lu(.sub.2-x-z)Gd.sub.x M.sub.z SiO.sub.5, wherein 0.00.ltoreq.x.ltoreq.1.95, wherein 0.001.ltoreq.z.ltoreq.0.02, and wherein M is selected from Sm, Tb, Tm, Eu, Yb, and Pr. The phosphor also consists essentially of gadolinium yttrium oxyorthosilicate activated with a rare-earth metal dopant M and having the general formula Gd(.sub.2-x-z)Y.sub.x M.sub.z SiO.sub.5, wherein 0.00.ltoreq.x.ltoreq.1.95, wherein 0.001.ltoreq.z.ltoreq.0.02, and wherein M is selected from Sm, Tb, Tm, Eu, Yb, and Pr. The phosphor may be optically coupled to a photodetector to provide a radiation detector.

  5. [A rare from of congenital cataract].

    PubMed

    Doden, W; Schnaudigel, O E

    1983-01-01

    In 1943 a 3 year-old-girl with hard star-like nuclear cataracts in both eyes underwent surgery. The white star-like nuclear remnants remained unchanged in the anterior chamber for more than 20 years. The son of this patient had the same rare cataract; surgery was performed on both eyes with practically the same results.

  6. Investing in Rare Books and Manuscripts

    PubMed Central

    Liebert, Herman W.

    1981-01-01

    The lecture treats the rapidly escalating values of rare books and manuscripts both as financial and as scholarly investments. The text suggests new areas for collecting which may be pursued in today's market with an eye to an increasing intellectual and monetary return. PMID:7324508

  7. What about the rare-earth elements

    Technology Transfer Automated Retrieval System (TEKTRAN)

    There is insufficient understanding of the nutritional physiology of pecan trees and orchards; thus, affecting nutmeat yield and quality, disease resistance and alternate bearing. An analysis of the rare-earth element composition of pecan and related hickory cousins found that they hyperaccumulate ...

  8. Malignant Myopericytoma of Shoulder: A Rare Lesion

    PubMed Central

    Moghadam, Reza Nafisi; Shabani, Masoud; Mortazavizadeh, Mohammad Reza; Zare, Saeedeh

    2016-01-01

    Myopericytoma is a soft tissue tumor with perivascular myoid differentiation. It accounts for 1% of the vascular tumors and involves mostly cutaneous or subcutaneous tissue of the limbs in adults. Malignant myopericytoma is exceedingly rare. A 15-year old girl presented with slowly progressive mass over left shoulder region. Histopathology and immunohistochemistry after complete excision revealed it as malignant myopericytoma. PMID:27398322

  9. Sporotrichoid lupus vulgaris: A rare presentation.

    PubMed

    Maheshwari, Anshul; Tiwari, Siddhi; Mathur, Deepak K; Bhargava, Puneet

    2015-01-01

    Lupus vulgaris is the most common presentation of cutaneous tuberculosis in India and can present as papular, nodular, plaque, ulcerative, vegetating, and tumid forms. Unusual variants include the frambesiform, gangrenous, ulcerovegetating, lichen simplex chronicus, myxomatous, and sporotrichoid types. We describe a rare sporotrichoid presentation of lupus vulgaris on the leg of a 28-year-old female of 12 years duration.

  10. 75 FR 47458 - TRICARE; Rare Diseases Definition

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-06

    ... Register (62 FR 627-631) clarifying the TRICARE exclusion of unproven drugs, devices and medical treatments... July 24, 2009 (74 FR 36639-36640). No comments were received on the proposed rule before the comment... Office of the Secretary 32 CFR Part 199 RIN 0720-AB26 TRICARE; Rare Diseases Definition AGENCY: Office...

  11. Masson's hemangioma: A rare intraoral presentation

    PubMed Central

    Narwal, Anjali; Sen, Rajeev; Singh, Virender; Gupta, Ambika

    2013-01-01

    An otherwise healthy 19-year-old female patient had painless swelling in her left buccal mucosa. No precipitating factors were identified. Pathological analysis demonstrated the mass to be a Masson's hemangioma, a papillary proliferation of thin-walled capillaries intimately associated with thrombus. A very rare tumor occurring in oral cavity with only 80 cases being published in literature until date. PMID:24124316

  12. Stamina and Clout Define This Rare Breed.

    ERIC Educational Resources Information Center

    Harrington-Lueker, Donna

    1991-01-01

    Takeover artists are a rare breed. Persons hired to put bankrupt school systems back on the road to academic solvency need stamina, clout, and plenty of experience. For all their state-given powers, takeover superintendents must identify key constituencies, build bridges, and promote belief in change from within. (MLH)

  13. Canine models of human rare disorders

    PubMed Central

    Hytönen, Marjo K.

    2016-01-01

    ABSTRACT Millions of children worldwide are born with rare and debilitating developmental disorders each year. Although an increasing number of these conditions are being recognized at the molecular level, the characterization of the underlying pathophysiology remains a grand challenge. This is often due to the lack of appropriate patient material or relevant animal models. Dogs are coming to the rescue as physiologically relevant large animal models. Hundreds of spontaneous genetic conditions have been described in dogs, most with close counterparts to human rare disorders. Our recent examples include the canine models of human Caffey (SLC37A2), van den Ende-Gupta (SCARF2) and Raine (FAM20C) syndromes. These studies demonstrate the pathophysiological similarity of human and canine syndromes, and suggest that joint efforts to characterize both human and canine rare diseases could provide additional benefits to the advancement of the field of rare diseases. Besides revealing new candidate genes, canine models allow access to experimental resources such as cells, tissues and even live animals for research and intervention purposes. PMID:27803843

  14. Aging in Rare Intellectual Disability Syndromes

    ERIC Educational Resources Information Center

    Dykens, Elisabeth M.

    2013-01-01

    This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

  15. Why trees and shrubs but rarely trubs?

    PubMed

    Scheffer, Marten; Vergnon, Remi; Cornelissen, J Hans C; Hantson, Stijn; Holmgren, Milena; van Nes, Egbert H; Xu, Chi

    2014-08-01

    An analysis of the maximum height of woody plant species across the globe reveals that an intermediate size is remarkably rare. We speculate that this may be due to intrinsic suboptimality or to ecosystem bistability with open landscapes favouring shrubs, and closed canopies propelling trees to excessive tallness. PMID:24951396

  16. Rare tumors of the rectum. Narrative review.

    PubMed

    Errasti Alustiza, José; Espín Basany, Eloy; Reina Duarte, Angel

    2014-11-01

    Most rectal neoplasms are adenocarcinomas, but there is a small percentage of tumors which are of other histological cell lines such as neuroendocrine tumors, sarcomas, lymphomas and squamous cell carcinomas, which have special characteristics and different treatments. We have reviewed these rare tumors of the rectum from a clinical and surgical point of view.

  17. Pulsatile neck mass: A rare cause

    PubMed Central

    Rao, Dattatreya P. V.; Ananthakrishna, Rajiv; Nanjappa, Manjunath C.

    2013-01-01

    A 20-year-old female presented with a pulsatile neck mass. On evaluation, she was found to have right cervical aortic arch, which is a rare anomaly. We highlight the conventional and Computed tomography angiography features of this vascular anomaly. PMID:23626449

  18. Masson's hemangioma: A rare intraoral presentation.

    PubMed

    Narwal, Anjali; Sen, Rajeev; Singh, Virender; Gupta, Ambika

    2013-07-01

    An otherwise healthy 19-year-old female patient had painless swelling in her left buccal mucosa. No precipitating factors were identified. Pathological analysis demonstrated the mass to be a Masson's hemangioma, a papillary proliferation of thin-walled capillaries intimately associated with thrombus. A very rare tumor occurring in oral cavity with only 80 cases being published in literature until date. PMID:24124316

  19. Rare Cell Capture in Microfluidic Devices

    PubMed Central

    Pratt, Erica D.; Huang, Chao; Hawkins, Benjamin G.; Gleghorn, Jason P.; Kirby, Brian J.

    2010-01-01

    This article reviews existing methods for the isolation, fractionation, or capture of rare cells in microfluidic devices. Rare cell capture devices face the challenge of maintaining the efficiency standard of traditional bulk separation methods such as flow cytometers and immunomagnetic separators while requiring very high purity of the target cell population, which is typically already at very low starting concentrations. Two major classifications of rare cell capture approaches are covered: (1) non-electrokinetic methods (e.g., immobilization via antibody or aptamer chemistry, size-based sorting, and sheath flow and streamline sorting) are discussed for applications using blood cells, cancer cells, and other mammalian cells, and (2) electrokinetic (primarily dielectrophoretic) methods using both electrode-based and insulative geometries are presented with a view towards pathogen detection, blood fractionation, and cancer cell isolation. The included methods were evaluated based on performance criteria including cell type modeled and used, number of steps/stages, cell viability, and enrichment, efficiency, and/or purity. Major areas for improvement are increasing viability and capture efficiency/purity of directly processed biological samples, as a majority of current studies only process spiked cell lines or pre-diluted/lysed samples. Despite these current challenges, multiple advances have been made in the development of devices for rare cell capture and the subsequent elucidation of new biological phenomena; this article serves to highlight this progress as well as the electrokinetic and non-electrokinetic methods that can potentially be combined to improve performance in future studies. PMID:21532971

  20. [Diaphragmatic bronchogenic cyst: a rare case report].

    PubMed

    Chatti, K; Bedioui, H; Saïd, W; Chelbi, M; Saies, O; Bouzani, A; Abdallah, N B; Zidi, B

    2003-07-01

    Retroperitoneal bronchogenic cysts are rare and those located in the diaphragm are exceptional. We describe an additional case of bronchogenic cyst of the left crus of diaphragm. Diagnosis of a diaphragmatic lesion was confirmed during laparotomy and complete resection was successful. Final diagnosis was done on pathology.

  1. Focal dermal hypoplasia: a rare case report.

    PubMed

    Srinivas, Sahana M; Hiremagalore, Ravi

    2015-01-01

    Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome. PMID:25657436

  2. Computer-Assisted Rare Book Cataloguing: Problems and Solutions.

    ERIC Educational Resources Information Center

    Steele, Victoria

    This study proposes answers to questions of how and why computers can be used to catalog rare books. Divided into two parts, the first examines the nature of rare book cataloging needs and considers problems associated with machine-readable rare book cataloging. The question of how rare book cataloging differs from standard cataloging is analyzed…

  3. Radioluminescence and thermoluminescence of rare earth element and phosphorus-doped zircon

    SciTech Connect

    Karali, T.; Can, N.; Townsend, P.D.; Rowlands, A.P.; Hanchar, J.M.

    2000-06-01

    The radioluminescence and thermoluminescence spectra of synthetic zircon crystals doped with individual trivalent rare earth element (REE) ions (Pr, Sm, Eu, Gd, Dy, Ho, Er, and Yb) and P are reported in the temperature range 25 to 673 K. Although there is some intrinsic UV/blue emission from the host lattice, the dominant signals are from the rare-earth sites, with signals characteristic of the REE{sup 3+} states. The shapes of the glow curves are different for each dopant, and there are distinct differences between glow peak temperatures for different rare-earth lines of the same element. Within the overall set of signals there are indications of linear trends in which some glow peak temperatures vary as a function of the ionic size of the rare earth ions. The temperature shifts of the peaks are considerable, up to 200{degree}, and much larger than those cited in other rare-earth-doped crystals of LaF{sub 3} and Bi{sub 4}Ge{sub 3}O{sub 12}. The data clearly suggest that the rare-earth ions are active both in the trapping and luminescence steps, and hence the TL occurs within localized defect complexes that include REE{sup 3+} ions.

  4. A genome-wide assessment of rare copy number variants in colorectal cancer

    PubMed Central

    Li, Zhenli; Yu, Dan; Gan, Meifu; Shan, Qiaonan; Yin, Xiaoyang; Tang, Shunli; Zhang, Shuai; Shi, Yongyong; Zhu, Yimin; Lai, Maode; Zhang, Dandan

    2015-01-01

    Colorectal cancer (CRC) is a complex disease with an estimated heritability of approximately 35%. However, known CRC-related common single nucleotide polymorphisms (SNPs) can only explain ~0.65% of the heritability. This “missing heritability” may be explained partially by rare copy number variants (CNVs). In this study, we performed a genome-wide scan using Illumina Human-Omni Express BeadChip, 694 sporadic CRC cases and 1641 controls were eventually included in our analysis after quality control. The global burden analysis revealed a 1.53-fold excess of rare CNVs in CRC cases compared with controls (P < 1 × 10−6), and the difference being more pronounced for genic rare CNVs and CNVs overlapped with coding regions (1.65-fold and 1.84-fold, respectively, both P < 1 × 10−6). Interestingly, both the cases in the lowest and middle tertile of age carried a higher burden of rare CNVs comparing to the highest tertile. Furthermore, 639 CNV-disrupted genes exclusive to CRC cases were found to be significantly enriched in gene ontology (GO) terms concerning nucleosome assembly and olfactory receptor activity. Our study was the first to evaluate the burden of rare CNVs in sporadic CRC and suggested that rare CNVs contributed to the missing heritability of CRC. PMID:26315111

  5. Peripheral neuropathy: the importance of rare subtypes

    PubMed Central

    Callaghan, Brian C.; Price, Ray S.; Chen, Kevin S.; Feldman, Eva L.

    2016-01-01

    Importance Peripheral neuropathy is a prevalent condition that usually warrants a thorough history and examination, but limited diagnostic evaluation. Rare localizations of peripheral neuropathy, however, often require more extensive diagnostic testing and different treatments. Objective To describe rare localizations of peripheral neuropathy, including the appropriate diagnostic evaluation and available treatments. Evidence Review References were identified from PubMed searches with an emphasis on systematic reviews and randomized clinical trials. Articles were also identified through the use of the author's own files. Search terms included common rare neuropathy localizations and their causes, as well as epidemiology, pathophysiology, diagnosis, and treatment. Findings Diffuse, non-length dependent neuropathies, multiple mononeuropathies, polyradiculopathies, plexopathies, and radiculoplexus neuropathies are rare peripheral neuropathy localizations that often require extensive diagnostic testing. Atypical neuropathy features, such as acute/subacute onset, asymmetry, and/or motor predominant signs, are frequently present. The most common diffuse, non-length dependent neuropathies are Guillain-Barre syndrome (GBS), chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN), and amyotrophic lateral sclerosis (ALS). Effective disease modifying therapies exist for many diffuse, non-length dependent neuropathies including GBS, CIDP, MMN, and some paraprotein-associated demyelinating neuropathies. Vasculitic neuropathy (multiple mononeuropathy) also has efficacious treatment options, but definitive evidence of a treatment effect for IgM anti-MAG neuropathy and diabetic amyoptrophy (radiculoplexus neuropathy) is lacking. Conclusions and Relevance Recognition of rare localizations of periperhal neuropathy is essential given the implications for diagnostic testing and treatment. Electrodiagnostic studies are an important early step in the

  6. Rare thoracic cancers, including peritoneum mesothelioma.

    PubMed

    Siesling, Sabine; van der Zwan, Jan Maarten; Izarzugaza, Isabel; Jaal, Jana; Treasure, Tom; Foschi, Roberto; Ricardi, Umberto; Groen, Harry; Tavilla, Andrea; Ardanaz, Eva

    2012-05-01

    Rare thoracic cancers include those of the trachea, thymus and mesothelioma (including peritoneum mesothelioma). The aim of this study was to describe the incidence, prevalence and survival of rare thoracic tumours using a large database, which includes cancer patients diagnosed from 1978 to 2002, registered in 89 population-based cancer registries (CRs) and followed-up to 31st December 2003. Over 17,688 cases of rare thoracic cancers were selected based on the list of the RACECARE project. Mesothelioma was the most common tumour (19 per million per year) followed by epithelial tumours of the trachea and thymus (1.3 and 1.7, respectively). The age standardised incidence rates of epithelial tumours of the trachea was double in Eastern and Southern Europe versus the other European regions: 2 per million per year. Epithelial tumours of the thymus had the lowest incidence in Northern and Eastern Europe and UK and Ireland(1) and somewhat higher incidence in Central and Southern Europe.(2) Highest incidence in mesothelioma was seen in UK and Ireland(23) and lowest in Eastern Europe.(4) Patients with tumours of the thymus had the best prognosis (1-year survival 85%, 66% at 5 years). Five year survival was lowest for the mesothelioma 5% compared to 14% of patients with tumours of the trachea. Mesothelioma was the most prevalent rare cancer (12,000 cases), followed by thymus (7000) and trachea (1400). Cancer Registry (CR) data play an important role in revealing the burden of rare thoracic cancers and monitoring the effect of regulations on asbestos use and smoking related policies.

  7. Bacterial Cell Surface Adsorption of Rare Earth Elements

    NASA Astrophysics Data System (ADS)

    Jiao, Y.; Park, D.; Reed, D.; Fujita, Y.; Yung, M.; Anderko, A.; Eslamimanesh, A.

    2015-12-01

    Rare earth elements (REE) play a critical role in many emerging clean energy technologies, including high-power magnets, wind turbines, solar panels, hybrid/electric vehicle batteries and lamp phosphors. In order to sustain demand for such technologies given current domestic REE shortages, there is a need to develop new approaches for ore processing/refining and recycling of REE-containing materials. To this end, we have developed a microbially-mediated bioadsorption strategy with application towards enrichment of REE from complex mixtures. Specifically, the bacterium Caulobacter crescentus was genetically engineered to display lanthanide binding tags (LBTs), short peptides that possess high affinity and specificity for rare earth elements, on its cell surface S-layer protein. Under optimal conditions, LBT-displayed cells adsorbed greater than 5-fold more REE than control cells lacking LBTs. Competition binding experiments with a selection of REEs demonstrated that our engineered cells could facilitate separation of light- from heavy- REE. Importantly, binding of REE onto our engineered strains was much more favorable compared to non-REE metals. Finally, REE bound to the cell surface could be stripped off using citrate, providing an effective and non-toxic REE recovery method. Together, this data highlights the potential of our approach for selective REE enrichment from REE containing mixtures.

  8. Identification of rare variants in Alzheimer’s disease

    PubMed Central

    Lord, Jenny; Lu, Alexander J.; Cruchaga, Carlos

    2014-01-01

    Much progress has been made in recent years in identifying genes involved in the risk of developing Alzheimer’s disease (AD), the most common form of dementia. Yet despite the identification of over 20 disease associated loci, mainly through genome wide association studies (GWAS), a large proportion of the genetic component of the disorder remains unexplained. Recent evidence from the AD field, as with other complex diseases, suggests a large proportion of this “missing heritability” may be due to rare variants of moderate to large effect size, but the methodologies to detect such variants are still in their infancy. The latest studies in the field have been focused on the identification of coding variation associated with AD risk, through whole-exome or whole-genome sequencing. Such variants are expected to have larger effect sizes than GWAS loci, and are easier to functionally characterize, and develop cellular and animal models for. This review explores the issues involved in detecting rare variant associations in the context of AD, highlighting some successful approaches utilized to date. PMID:25389433

  9. 'Rare biosphere' bacteria as key phenanthrene degraders in coastal seawaters.

    PubMed

    Sauret, Caroline; Séverin, Tatiana; Vétion, Gilles; Guigue, Catherine; Goutx, Madeleine; Pujo-Pay, Mireille; Conan, Pascal; Fagervold, Sonja K; Ghiglione, Jean-François

    2014-11-01

    By coupling DNA-SIP and pyrosequencing approaches, we identified Cycloclasticus sp. as a keystone degrader of polycyclic aromatic hydrocarbons (PAH) despite being a member of the 'rare biosphere' in NW Mediterranean seawaters. We discovered novel PAH-degrading bacteria (Oceanibaculum sp., Sneathiella sp.) and we identified other groups already known to possess this function (Alteromonas sp., Paracoccus sp.). Together with Cycloclasticus sp., these groups contributed to potential in situ phenanthrene degradation at a rate >0.5 mg l(-1) day(-1), sufficient to account for a considerable part of PAH degradation. Further, we characterized the PAH-tolerant bacterial communities, which were much more diverse in the polluted site by comparison to unpolluted marine references. PAH-tolerant bacteria were also members of the rare biosphere, such as Glaciecola sp. Collectively, these data show the complex interactions between PAH-degraders and PAH-tolerant bacteria and provide new insights for the understanding of the functional ecology of marine bacteria in polluted waters.

  10. Analysis of rare copy number variation in absence epilepsies

    PubMed Central

    Rosch, Richard E.; Valentin, Antonio; Makoff, Andrew; Robinson, Robert; Everett, Kate V.; Nashef, Lina; Pal, Deb K.

    2016-01-01

    Objective: To identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absence seizure generation and potentially a diagnostic continuum. Methods: We used high-density single-nucleotide polymorphism arrays to analyze genome-wide rare copy number variation (CNV) in a cohort of 144 children with AEs (95 CAE, 26 UAE, and 23 JAE). Results: We identified CNVs that are known risk factors for AE in 4 patients, including 3x 15q11.2 deletion. We also expanded the phenotype at 4 regions more commonly identified in other neurodevelopmental disorders: 1p36.33 duplication, 1q21.1 deletion, 22q11.2 duplication, and Xp22.31 deletion and duplication. Fifteen patients (10.5%) were found to carry rare CNVs that disrupt genes associated with neuronal development and function (8 CAE, 2 JAE, and 5 UAE). Four categories of protein are each disrupted by several CNVs: (1) synaptic vesicle membrane or vesicle endocytosis, (2) synaptic cell adhesion, (3) synapse organization and motility via actin, and (4) gap junctions. CNVs within these categories are shared across the AE subtypes. Conclusions: Our results have reinforced the complex and heterogeneous nature of the AEs and their potential for shared genetic mechanisms and have highlighted several pathways that may be important in epileptogenesis of absence seizures. PMID:27123475

  11. Cold agglutinin disease in fibrolamellar hepatocellular carcinoma: a rare association with a rare cancer variant.

    PubMed

    Al-Matham, Khalid; Alabed, Iehab; Zaidi, Syed Z A; Qushmaq, Khalid A

    2011-01-01

    Cold agglutinin disease (CAD) is a rare autoimmune hemolytic anemia. Although it can occur secondary to lymphoproliferative disorders and autoimmune or infectious diseases, CAD is rarely reported as secondary to solid tumors. We report a case of a woman aged 18 years diagnosed with a well-differentiated hepatocellular carcinoma of the fibrolamellar subtype, who was shown to have CAD also. Her general condition, including CAD, improved after targeted therapy with sorafenib for the hepatocellular carcinoma and only conservative measures for the CAD that consisted of avoidance of cold. In summary, although it is an extremely rare association and less common than lymphoproliferative disorders, CAD can be associated with solid tumors. PMID:21293066

  12. Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants

    PubMed Central

    Li, Xin; Battle, Alexis; Karczewski, Konrad J.; Zappala, Zach; Knowles, David A.; Smith, Kevin S.; Kukurba, Kim R.; Wu, Eric; Simon, Noah; Montgomery, Stephen B.

    2014-01-01

    Recent and rapid human population growth has led to an excess of rare genetic variants that are expected to contribute to an individual’s genetic burden of disease risk. To date, much of the focus has been on rare protein-coding variants, for which potential impact can be estimated from the genetic code, but determining the impact of rare noncoding variants has been more challenging. To improve our understanding of such variants, we combined high-quality genome sequencing and RNA sequencing data from a 17-individual, three-generation family to contrast expression quantitative trait loci (eQTLs) and splicing quantitative trait loci (sQTLs) within this family to eQTLs and sQTLs within a population sample. Using this design, we found that eQTLs and sQTLs with large effects in the family were enriched with rare regulatory and splicing variants (minor allele frequency < 0.01). They were also more likely to influence essential genes and genes involved in complex disease. In addition, we tested the capacity of diverse noncoding annotation to predict the impact of rare noncoding variants. We found that distance to the transcription start site, evolutionary constraint, and epigenetic annotation were considerably more informative for predicting the impact of rare variants than for predicting the impact of common variants. These results highlight that rare noncoding variants are important contributors to individual gene-expression profiles and further demonstrate a significant capability for genomic annotation to predict the impact of rare noncoding variants. PMID:25192044

  13. Actinides and Rare Earths Topical Conference (Code AC)

    SciTech Connect

    Tobin, J G

    2009-11-24

    Actinide and the Rare Earth materials exhibit many unique and diverse physical, chemical and magnetic properties, in large part because of the complexity of their f electronic structure. This Topical Conference will focus upon the chemistry, physics and materials science in Lanthanide and Actinide materials, driven by 4f and 5f electronic structure. Particular emphasis will be placed upon 4f/5f magnetic structure, surface science and thin film properties. For the actinides, fundamental actinide science and its role in resolving technical challenges posed by actinide materials will be stressed. Both basic and applied experimental approaches, including synchrotron-radiation-based investigations, as well as theoretical modeling and computational simulations, are planned to be part of the Topical Conference. Of particular importance are the issues related to the potential renaissance in Nuclear Fuels, including synthesis, oxidation, corrosion, intermixing, stability in extreme environments, prediction of properties via benchmarked simulations, separation science, environmental impact and disposal of waste products.

  14. Multiple Compond Odontomas in the Jaws: A Rare Case Report

    PubMed Central

    Sahni, Priya; Pereira, Treville; Zingade, Jyoti

    2015-01-01

    Odontomas are tumours of odontogenic origin. In these tumours both the epithelial and mesenchymal cells undergo differentiation to form enamel and dentin with variable amounts of cementum and pulp tissue. The odontomas represent a hamartoma rather than a neoplasm. When the enamel and dentin are laid down in an organized manner it is termed as a compound odontoma wherein the tumour forms a collection of small structures resembling teeth. On the other hand, an irregular mass with no similarity to teeth is termed as a complex odontoma. There are cases of extensive and multiple compound odontomas which have been identified in either of the jaws. The present case is rare with multiple compound odontomas involving both the jaws of 45-year-old male patient. A review of seven such cases reported so far has been presented. PMID:26816995

  15. Multiple Compond Odontomas in the Jaws: A Rare Case Report.

    PubMed

    Gujjar, Pavan Kumar; Sahni, Priya; Pereira, Treville; Zingade, Jyoti

    2015-12-01

    Odontomas are tumours of odontogenic origin. In these tumours both the epithelial and mesenchymal cells undergo differentiation to form enamel and dentin with variable amounts of cementum and pulp tissue. The odontomas represent a hamartoma rather than a neoplasm. When the enamel and dentin are laid down in an organized manner it is termed as a compound odontoma wherein the tumour forms a collection of small structures resembling teeth. On the other hand, an irregular mass with no similarity to teeth is termed as a complex odontoma. There are cases of extensive and multiple compound odontomas which have been identified in either of the jaws. The present case is rare with multiple compound odontomas involving both the jaws of 45-year-old male patient. A review of seven such cases reported so far has been presented.

  16. METHOD OF SEPARATING TETRAVALENT PLUTONIUM VALUES FROM CERIUM SUB-GROUP RARE EARTH VALUES

    DOEpatents

    Duffield, R.B.; Stoughton, R.W.

    1959-02-01

    A method is presented for separating plutonium from the cerium sub-group of rare earths when both are present in an aqueous solution. The method consists in adding an excess of alkali metal carbonate to the solution, which causes the formation of a soluble plutonium carbonate precipitate and at the same time forms an insoluble cerium-group rare earth carbonate. The pH value must be adjusted to bctween 5.5 and 7.5, and prior to the precipitation step the plutonium must be reduced to the tetravalent state since only tetravalent plutonium will form the soluble carbonate complex.

  17. Carney Complex

    MedlinePlus

    ... Screening guidelines may change over time as new technologies are developed and more is learned about Carney complex. It is important to talk with your doctor about appropriate screening tests. Learn more about what to expect when having ...

  18. Incorporating Non-Coding Annotations into Rare Variant Analysis

    PubMed Central

    Richardson, Tom G.; Campbell, Colin; Timpson, Nicholas J; Gaunt, Tom R.

    2016-01-01

    Background The success of collapsing methods which investigate the combined effect of rare variants on complex traits has so far been limited. The manner in which variants within a gene are selected prior to analysis has a crucial impact on this success, which has resulted in analyses conventionally filtering variants according to their consequence. This study investigates whether an alternative approach to filtering, using annotations from recently developed bioinformatics tools, can aid these types of analyses in comparison to conventional approaches. Methods & Results We conducted a candidate gene analysis using the UK10K sequence and lipids data, filtering according to functional annotations using the resource CADD (Combined Annotation-Dependent Depletion) and contrasting results with ‘nonsynonymous’ and ‘loss of function’ consequence analyses. Using CADD allowed the inclusion of potentially deleterious intronic variants, which was not possible when filtering by consequence. Overall, different filtering approaches provided similar evidence of association, although filtering according to CADD identified evidence of association between ANGPTL4 and High Density Lipoproteins (P = 0.02, N = 3,210) which was not observed in the other analyses. We also undertook genome-wide analyses to determine how filtering in this manner compared to conventional approaches for gene regions. Results suggested that filtering by annotations according to CADD, as well as other tools known as FATHMM-MKL and DANN, identified association signals not detected when filtering by variant consequence and vice versa. Conclusion Incorporating variant annotations from non-coding bioinformatics tools should prove to be a valuable asset for rare variant analyses in the future. Filtering by variant consequence is only possible in coding regions of the genome, whereas utilising non-coding bioinformatics annotations provides an opportunity to discover unknown causal variants in non

  19. Selective liquid chromatographic separation of yttrium from heavier rare earth elements using acetic acid as a novel eluent.

    PubMed

    Kifle, Dejene; Wibetoe, Grethe

    2013-09-13

    One of the major difficulties in the rare earth elements separation is purification of yttrium from heavy rare earth elements. Thus, an HPLC method using acetic acid as novel eluent was explored for selective separation of yttrium form the heavy rare earth elements. When acetic acid is used as a mobile phase yttrium eluted with the lighter lanthanides. This is contrary to its relative position amongst heavier lanthanides when eluents commonly used for separation of rare earth elements were employed. The shift in elution position of yttrium with acetic acid as eluent may reflect a relatively lower stability constant of the yttrium-AcOH complex (in the same order as for the lighter lanthanides) compared to the corresponding AcOH complexes with heavy lanthanides, enabling selective separation of yttrium from the latter. The method was successfully used for selective separation of yttrium in mixed rare earth sample containing about 80% of yttrium and about 20% of heavy rare earth oxides. Thus, the use of AcOH as eluent is an effective approach for separating and determining the trace amounts of heavy rare earth elements in large amounts of yttrium matrix. Separation was performed on C18 column by running appropriate elution programs. The effluent from the column was monitored with diode array detector at absorbance wavelength of 658nm after post column derivatization with Arsenazo III.

  20. FRIB - Facility for Rare Isotope Beams

    SciTech Connect

    Bollen, G.

    2010-04-30

    FRIB, the US's 'Facility for Rare Isotope Beams' to be built at Michigan State University (MSU), will be based on a 400 kW, 200 MeV/u heavy ion driver linac. Once completed, FRIB will offer world-unique opportunities for rare isotope science. It will provide a wide variety of high-quality beams of unstable isotopes at unprecedented intensities, opening exciting research perspectives with fast, stopped, and reaccelerated beams. New experiments will become possible to explore nuclear structure very far from stability and to provide information critical for the explanation of the element abundances observed in the universe. Special isotopes that are important for the study of fundamental symmetries and to allow for new applications of isotopes to meet societal needs will at become available at high intensities.

  1. Primary renal teratoma: a rare entity

    PubMed Central

    2013-01-01

    Abstract Teratomas are neoplasms that arise from pluripotent cells and can differentiate along one or more embryonic germ lines. Renal teratoma is an exceedingly rare condition. Teratomas commonly arise in the gonads, sacrococcygeal region, pineal gland, and retroperitoneum. They present mainly as an abdominal mass with few other symptoms. Majority of the tumors are benign, situated on the left side and para renal, occasional lesions are bilateral. If diagnosed early, they are amenable to curative excision. Renal teratomas are rare and most have been dismissed as cases of teratoid nephroblastomas or retroperitoneal teratomas secondarily invading the kidney. The differentiation between these two neoplasms in the kidney is often problematic. We present a case of intrarenal immature teratoma in a six-month-old baby girl. Virtual slides The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1746249869599954. PMID:23800134

  2. Rare Earth Additions in Continuously Cast Steel

    NASA Astrophysics Data System (ADS)

    Wilson, William G.; Heaslip, L. J.; Sommerville, I. D.

    1985-09-01

    Rare earth (lanthanide metals) addiiions to continuously cast steel are particularly advantageous because of their ability to refine as-cast structures, reduce segregation and increase hot ductility at temperatures just below that of solidification. The complete shape control of sulfides in steels containing Rare Earth Metals (REM), whether continuously cast or ingot cast, is primarily responsible for improvements in ductility related mechanical properties, weldability, fatigue resistance and resistance to hydrogen damage. Complete sulfide shape control can be obtained with REM additions at sulfur levels as high as.020%. The greatest improvements, however, are obtained with REM additions to low sulfur steels. However, to achieve full operational advantages afforded by REM, nozzle blockage problems must be circumvented. Water model studies indicate a possible solution.

  3. Rare-earth pneumoconiosis: a new case

    SciTech Connect

    Sulotto, F.; Romano, C.; Berra, A.; Botta, G.C.; Rubino, G.F.; Sabbioni, E.; Pietra, R.

    1986-01-01

    A new case of rare-earth (RE) pneumoconiosis is described. The subject had worked as a photoengraver for 13 years and had not been exposed for 17 years. Chest X-ray showed a diffuse nodular pattern (q 2/3-ILO/1980). The patient was asymptomatic despite a restrictive spirometric impairment. The diagnosis derived from the finding, in the bronchoalveolar lavage fluid, of abnormal levels of La, Ce, Nd, Sm, Tb, Yb, and Lu. The presence of these elements was demonstrated by two methods: the neutron activation analysis and (as regards Ce alone) the X-ray energy spectrometry of mineral particles observed with electron microscope. Abnormal levels of rare earths were demonstrated also in the nails, suggesting an absorption of the RE from the lung.

  4. Knuckle pads – a rare finding

    PubMed Central

    Gengenbacher, Michael; Bianchi, Stefano

    2012-01-01

    Knuckle pads are rare harmless subcutaneous nodules that must be differentiated from joint disease of the proximal interphalangeal or rarely of the metacarpophalangeal joints as well as from other masses of the paraarticular tissues. We present a case of an otherwise healthy 36-year-old woman presenting with bilateral knuckle pads located at the dorsal aspect of the proximal interphalangeal joints. No predisposition to a specific musculoskeletal disorder was noted. Ultrasound revealed well-delimited subcutaneous hypoechoic masses without internal flow signals at color Doppler. Histology showed proliferation of myofibroblasts with a decrease of elastic filaments in the deep dermis. The clinical picture, the family history in addition to the histology allowed us to make the diagnosis of knuckle pads. We present the ultrasound findings of knuckle pads and discuss the differential diagnosis of a “swelling” in the dorsal region of proximal interphalangeal joints and metacarpophalangeal joints. PMID:26672439

  5. The discovery of medicines for rare diseases

    PubMed Central

    Swinney, David C; Xia, Shuangluo

    2015-01-01

    There is a pressing need for new medicines (new molecular entities; NMEs) for rare diseases as few of the 6800 rare diseases (according to the NIH) have approved treatments. Drug discovery strategies for the 102 orphan NMEs approved by the US FDA between 1999 and 2012 were analyzed to learn from past success: 46 NMEs were first in class; 51 were followers; and five were imaging agents. First-in-class medicines were discovered with phenotypic assays (15), target-based approaches (12) and biologic strategies (18). Identification of genetic causes in areas with more basic and translational research such as cancer and in-born errors in metabolism contributed to success regardless of discovery strategy. In conclusion, greater knowledge increases the chance of success and empirical solutions can be effective when knowledge is incomplete. PMID:25068983

  6. Penile Sarcoma: Report of a Rare Malignancy

    PubMed Central

    Kumar, Vijay; Chaturvedi, Arun; Vishnoi, Jeevan Ram; Dontula, Prashant

    2016-01-01

    Penile cancer is an uncommon malignancy. Squamous cell carcinoma constitutes approximately 95% of all histology. Non-squamous malignancies are rare in penis. Sarcomas of penis are rarer among them. Spindle cell sarcoma is one of the extremely rare sarcoma of penis. To best of our knowledge, only two cases have been reported so far, one in English literature and other in Japanese. We are presenting this uncommon case of spindle cell sarcoma of penis, which was diagnosed with microscopy with its characteristic immunohistochemistry. The disease had an aggressive course with multiple recurrences in a short duration despite margin negative resection. Disease responded poorly with the chemotherapy and patient succumbed to the disease. PMID:27630937

  7. A rare cause for primary amenorrhoea

    PubMed Central

    Ameen, Kaderthambi Hajamohideen Noorul; Pinninti, Rakesh

    2012-01-01

    Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault's syndrome. Perrault syndrome is a rare autosomal recessive condition affecting both females and males; only females have gonadal dysgenesis associated with sensorineural deafness, which is present in both sexes. We present a case of sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features and normal karyotype. There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus. We report this case for its rarity and add to the spectrum of the disease that remains undetermined. PMID:23162364

  8. The rare isotope accelerator (RIA) facility project

    SciTech Connect

    Christoph Leemann

    2000-08-01

    The envisioned Rare-Isotope Accelerator (RIA) facility would add substantially to research opportunities for nuclear physics and astrophysics by combining increased intensities with a greatly expanded variety of high-quality rare-isotope beams. A flexible superconducting driver linac would provide 100 kW, 400 MeV/nucleon beams of any stable isotope from hydrogen to uranium onto production targets. Combinations of projectile fragmentation, target fragmentation, fission, and spallation would produce the needed broad assortment of short-lived secondary beams. This paper describes the project's background, purpose, and status, the envisioned facility, and the key subsystem, the driver linac. RIA's scientific purposes are to advance current theoretical models, reveal new manifestations of nuclear behavior, and probe the limits of nuclear existence [3]. Figures 1 and 2 show, respectively, examples of RIA research opportunities and the yields projected for pursuing them. Figure 3 outlines a conceptual approach for delivering the needed beams.

  9. A Rare Case of Synchronous Saree Cancer

    PubMed Central

    Naveen, N; Kumar, M Kamal; Babu, Ramesh K; Dhanraj, Prema

    2014-01-01

    Skin cancers are rather uncommon malignancies comprising less than 1% of all the cancers in India. Saree cancer is a rare type of squamous cell carcinoma (SCC). Saree and dhoti are traditional male and female costumes respectively, which is unique to the Indian subcontinent. Constant wear of this clothing tightly around the waist results in changes in pigmentation and scaling of the skin, acanthosis, scar and ulceration and subsequent, gradual malignant changes. The process of repeated trauma over a long time and consequent interference with the healing process may rationalise the reason for malignant transformation. Few papers have been published on saree cancer, in main stream medical journals. We are presenting a rare case of saree cancer in a 68-year-old woman, with two distant bilateral ulceroproliferative growths in loin (Synchronous), along the waistline, which showed well-differentiated SCC on biopsy. Wide excision with rhomboid transposition flap was done bilaterally. PMID:25538441

  10. Rare decays experimental summary and prospects

    SciTech Connect

    Littenberg, L.

    1996-12-31

    I review the status and future prospects of searches for forbidden and highly kaon suppressed decays. This workshop comes as we are poised at the threshold of a new generation of rare K decay experiments. There are new experiments running or about to run at KEK, BNL, FNAL, and CERN. In another year or so these will be joined by the KLOE experiment at DA{Phi}NE. The good news is that it`s a very exciting time. The bad news, at least for a reviewer, is that there aren`t too many new results. Thus I`ll be giving a little more attention than usual to what the experimenters expect to do. My discussion of rare K decays covers processes that are forbidden in the Standard Model, those that highly suppressed and to a smaller extent, those that are merely discouraged.

  11. Rare Occurrence of Lip Spindle Cell Lipoma

    PubMed Central

    Girgis, Sandra; Cheng, Leo

    2015-01-01

    Spindle cell lipoma (SCL) is a rare distinct variant of lipoma, which presents as a painless, circumscribed, slow-growing, superficial lesion on the lip and can mimic a minor salivary gland tumour. We present a slow growing lower lip lesion and its management. Case Report. A 38-year-old female gave an eight-year history of a slow-growing mass on her lower lip with intermittent change in size. She presented with a submucosal nodule and thin overlying mucosa adjacent to the vermilion border. Surgical excision was carried as the diagnostic and therapeutic approach. Conclusion. Lip SCL is rare, and surgical excision is advocated in order to exclude underlying pathology and minor salivary gland tumours. PMID:25815220

  12. Angiolipoma: rare cause of adult ileoileal intussusception.

    PubMed

    Esnakula, Ashwini K; Sinha, Archana; Fidelia-Lambert, Marie; Tammana, Venkata S

    2013-03-26

    Intussusception in adults is rare and more common in the paediatric population. Clinically, most adult patients have chronic non-specific symptoms due to partial obstruction. In contrast, most paediatric patients present with the classic triad of abdominal pain, vomiting and blood in stool. Adult intussusception is commonly associated with an organic aetiology, most likely a benign or malignant neoplasm as a lead point of intussusception. We describe a case of a 29-year-old woman with subacute presentation due to ileoileal intussusception secondary to a polypoid submucosal angiolipoma. Angiolipoma is a benign lesion composed of mature adipose tissue and thin-walled capillaries. The presence of thin-walled vessels differentiates it from a lipoma. Angiolipomas of the small intestine are extremely rare with very few reported cases. This case not only demonstrates an unusual benign lesion as a cause of intussusception, but also illustrates an atypical clinical presentation in adults with intussusception.

  13. Primary Labial Tuberculosis: A Rare Presentation

    PubMed Central

    Gupta, A; Narwal, A; Singh, H

    2014-01-01

    Tuberculosis is one of the oldest scorches of mankind that has not left this world even today. The disease is more common in the developing countries. Oral tuberculosis has been considered in 0.1-5% of all tuberculous infections. Mostly, the oral tuberculous lesions are secondary to pulmonary tuberculosis, but rarely primary lesions may occur. Primary lesions occur due to direct inoculation of the microorganism into the oral mucosa and mainly seen in the young individuals. Tongue is the most common oral site involved. Of all the sites involved, labial involvement is extremely rare. This case report intends to throw light on one such unique case, where a young male patient presented with a primary tubercular lesion of the lip. The lesion resolved immediately after anti tubercular therapy. PMID:24669346

  14. Primary labial tuberculosis: a rare presentation.

    PubMed

    Gupta, A; Narwal, A; Singh, H

    2014-01-01

    Tuberculosis is one of the oldest scorches of mankind that has not left this world even today. The disease is more common in the developing countries. Oral tuberculosis has been considered in 0.1-5% of all tuberculous infections. Mostly, the oral tuberculous lesions are secondary to pulmonary tuberculosis, but rarely primary lesions may occur. Primary lesions occur due to direct inoculation of the microorganism into the oral mucosa and mainly seen in the young individuals. Tongue is the most common oral site involved. Of all the sites involved, labial involvement is extremely rare. This case report intends to throw light on one such unique case, where a young male patient presented with a primary tubercular lesion of the lip. The lesion resolved immediately after anti tubercular therapy. PMID:24669346

  15. A rare case of thyroid storm.

    PubMed

    McMillen, Brock; Dhillon, Manvinder Shelley; Yong-Yow, Sabrina

    2016-04-18

    Thyroid storm is a rare and life-threatening state of thyroid hormone excess. Rapid recognition of thyroid storm is key to decreasing the morbidity and mortality of this condition. Clinical manifestations of thyroid storm include unexplained weight loss, hyperactivity and irritability. The most common causes of thyrotoxicosis are Graves' disease, toxic multinodular goitre and toxic adenoma. We present a rare case of thyroid storm induced by dual nivolumab and ipilimumab immunotherapy in a patient receiving treatment for advanced melanoma. In this case, our patient was admitted for thyroid storm 1 month after initiating treatment with nivolumab and ipilimumab immunotherapy. The patient was treated with β-blockers, antithyroid medications and systemic steroids resulting in an improvement in thyroid function testing and symptoms.

  16. Fourth ventricle meningiomas: a rare entity.

    PubMed

    Pichierri, Angelo; Ruggeri, Andrea; Morselli, Carlotta; Delfini, Roberto

    2011-08-01

    Fourth ventricle meningiomas (FVMs) are rare, often misdiagnosed, lesions. To the best of our knowledge, 47 cases have been reported in the literature: we describe our series of three cases treated at our Institution, focusing on some diagnostic tips and intraoperative features of these tumours. Our three patients have a history of headache. Gait disturbances, vomiting and/or diplopia complicated the clinical picture before the referral at our Department. The operations were uneventful, and the patients fully recovered from neurological symptoms. They are free of recurrence at a median follow-up of 19 years. FVMs are rare lesions, which are difficult to differentiate preoperatively from the much more common ependymomas. A preoperative distinction would be extremely advantageous: indeed, although both tumours share similar radiological and clinical patterns, they clearly differ as to surgical difficulty and outcome. In fact, meningiomas are comparatively easier to remove, granting better clinical results.

  17. Applying complement therapeutics to rare diseases.

    PubMed

    Reis, Edimara S; Mastellos, Dimitrios C; Yancopoulou, Despina; Risitano, Antonio M; Ricklin, Daniel; Lambris, John D

    2015-12-01

    Around 350 million people worldwide suffer from rare diseases. These may have a genetic, infectious, or autoimmune basis, and several include an inflammatory component. Launching of effective treatments can be very challenging when there is a low disease prevalence and limited scientific insights into the disease mechanisms. As a key trigger of inflammatory processes, complement has been associated with a variety of diseases and has become an attractive therapeutic target for conditions involving inflammation. In view of the clinical experience acquired with drugs licensed for the treatment of rare diseases such as hereditary angioedema and paroxysmal nocturnal hemoglobinuria, growing evidence supports the safety and efficacy of complement therapeutics in restoring immune balance and preventing aggravation of clinical outcomes. This review provides an overview of the candidates currently in the pharmaceutical pipeline with potential to treat orphan diseases and discusses the molecular mechanisms triggered by complement involved with the disease pathogenesis.

  18. Penile Sarcoma: Report of a Rare Malignancy.

    PubMed

    Rajan, Shiv; Kumar, Vijay; Chaturvedi, Arun; Vishnoi, Jeevan Ram; Dontula, Prashant

    2016-07-01

    Penile cancer is an uncommon malignancy. Squamous cell carcinoma constitutes approximately 95% of all histology. Non-squamous malignancies are rare in penis. Sarcomas of penis are rarer among them. Spindle cell sarcoma is one of the extremely rare sarcoma of penis. To best of our knowledge, only two cases have been reported so far, one in English literature and other in Japanese. We are presenting this uncommon case of spindle cell sarcoma of penis, which was diagnosed with microscopy with its characteristic immunohistochemistry. The disease had an aggressive course with multiple recurrences in a short duration despite margin negative resection. Disease responded poorly with the chemotherapy and patient succumbed to the disease. PMID:27630937

  19. Oral lymphangioma: A rare case report

    PubMed Central

    Bhayya, Harsha; Pavani, D.; Avinash Tejasvi, M. L.; Geetha, P.

    2015-01-01

    Lymphangiomas are benign hamartomatous tumors of the lymphatic channels which present as developmental malformations arising from sequestration of lymphatic tissue that do not communicate with the rest of the lymphatic channels. Lymphatic vessels are filled with a clear protein-rich fluid containing few lymph cells. It can also occur in association with hemangioma. The onset of lymphangiomas are either at birth (60% to 70%) or up to two years of age (90%) and rare in adults. Lymphangiomas have marked predilection for the head and neck region (50-70%). The most common location in the mouth is the dorsum of tongue, followed by lips, buccal mucosa, soft palate, and floor of the mouth. On tongue, they may present as a localized or a diffused growth which may enlarge to cause macroglossia, impaired speech and difficulty in mastication. Herewith, we present a rare case of lymphangioma of tongue leading to macroglossia in a 8-year-old boy. PMID:26681873

  20. Nonfrequent but well-documented, rare and very rare HLA alleles observed in the Croatian population.

    PubMed

    Grubic, Z; Burek Kamenaric, M; Maskalan, M; Stingl Jankovic, K; Zunec, R

    2014-12-01

    The aim of the study was to evaluate the presence of nonfrequent, rare and very rare alleles among Croats and to estimate whether they are associated with specific alleles at other human leukocyte antigen (HLA) loci. This retrospective study included the typing results from the last 10 years; total number of individuals included was approximately 45,000. Among 17 alleles so far observed only once in our population, 6 (A*24:41, B*07:02:28, B*35:03:03, B*39:40N, DRB1*13:23 and DRB1*14:111) belong to very rare alleles, 2 (B*44:16 and DRB1*01:31) belong to rare alleles according to the 'Rare Alleles Detector' tool ( www.allelefrequencies.net), while for the B*35:101:01 allele published data exist only in the IMGT/HLA database. The remaining eight HLA alleles observed only once among Croats are considered as frequent according to the 'Rare Alleles Detector'. Those 17 HLA alleles are not declared as common well defined (CWD) alleles in the CWD allele catalogue 2.0.0. Haplotype analysis of nonfrequent alleles detected in our sample supports the idea that different populations, although similar in some aspects regarding HLA allele and haplotype distribution, still have some unique characteristics. This is the case for A*01:02, B*39:10 and DRB1*13:32 which form haplotypes unreported to date among our subjects.

  1. Rare earth element systematics in hydrothermal fluids

    SciTech Connect

    Michard, A. )

    1989-03-01

    Rare earth element concentrations have been measured in hydrothermal solutions from geothermal fields in Italy, Dominica, Valles Caldera, Salton Sea and the Mid-Atlantic Ridge. The measured abundances show that hydrothermal activity is not expected to affect the REE balance of either continental or oceanic rocks. The REE enrichment of the solutions increases when the pH decreases. High-temperature solutions (> 230{degree}C) percolating through different rock types may show similar REE patterns.

  2. A Rare Hydrocephalus Complication: Cortical Blindness.

    PubMed

    Ünal, Emre; Göçmen, Rahşan; Işıkay, Ayşe İlksen; Tekşam, Özlem

    2015-01-01

    Cortical blindness related to bilateral occipital lobe infarction is an extremely rare complication of hydrocephalus. Compression of the posterior cerebral artery, secondary to tentorial herniation, is the cause of occipital infarction. Particularly in children and mentally ill patients, cortical blindness may be missed. Therefore, early diagnosis and treatment of hydrocephalus is important. We present herein a child of ventricular shunt malfunction complicated by cortical blindness. PMID:27411424

  3. Impact of rare diseases in oral health

    PubMed Central

    Molina-García, Ana; Castellanos-Cosano, Lizett; Posada-de la Paz, Manuel

    2016-01-01

    Background Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade. Material and Methods Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with “oral health”. The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disease) and other alterations (mouth breathing, parafunctional habits, etc). A bias analysis of the variable caries was conducted. Results Six RD were selected through our inclusion and exclusion criteria (hypogammaglobulinemia, Rett syndrome, Marfan syndrome, Prader-Willi syndrome, cystic fibrosis and Cri du chat syndrome) in a total of 8 publications, of which four trials were classified as high risk of bias and one of them as medium risk. There were not trials with low risk of bias. Conclusions The main statistically significant differences found by Syndrome compared to a control group were in Hypogammaglobulinemia with a greater tendency to enamel hypoplasia and dry mouth. The Rett syndrome had, as well, a greater tendency to an anterior open bite, ogival palate, bruxism, mouth breathing and tongue thrusting. Prader-Willi syndrome had a tendency of dental erosion, and Cri du chat syndrome showed a higher association to Tannerella forsythia. Key words:Rare diseases, oral health. PMID:27475682

  4. Concerning the Facility for Rare Isotope Beams

    ScienceCinema

    Symons, James

    2016-07-12

    James Symons, Nuclear Science Division Director at Lawrence Berkeley Lab, and Daniela Leitner, head of operations at Berkeley Lab's 88-Inch Cyclotron, discuss major contributions to the new Facility for Rare Isotope Beams (FRIB) at Michigan State University, including ion source, which will based on the VENUS source built for the 88-Inch Cyclotron, and the GRETA gamma-ray detector now under construction there.

  5. A Case of Pleuroparenchymal Metastasis: Rare Aetiology

    PubMed Central

    Sharma, Radhika; Narasimhan, Meenakshi; Shanmuganathan, Aruna; Rajendran, Adhithyan

    2016-01-01

    A phyllodes tumour is a malignancy of both mesenchymal and epithelial origin affecting the breast. The malignant course of this breast tumour causing lung metastasis is rare. Here we report a treated case of borderline phyllodes tumour that presented with pleuroparenchymal metastasis. Our case highlights the possibility of recurrence of borderline phyllodes tumour as pleuroparenchymal metastasis even after a long disease free interval. PMID:27190865

  6. Phenotypic extremes in rare variant study designs.

    PubMed

    Peloso, Gina M; Rader, Daniel J; Gabriel, Stacey; Kathiresan, Sekar; Daly, Mark J; Neale, Benjamin M

    2016-06-01

    Currently, next-generation sequencing studies aim to identify rare and low-frequency variation that may contribute to disease. For a given effect size, as the allele frequency decreases, the power to detect genes or variants of interest also decreases. Although many methods have been proposed for the analysis of such data, study design and analytic issues still persist in data interpretation. In this study we present sequencing data for ABCA1 that has known rare variants associated with high-density lipoprotein cholesterol (HDL-C). We contrast empirical findings from two study designs: a phenotypic extreme sample and a population-based random sample. We found differing strengths of association with HDL-C across the two study designs (P=0.0006 with n=701 phenotypic extremes vs P=0.03 with n=1600 randomly sampled individuals). To explore this apparent difference in evidence for association, we performed a simulation study focused on the impact of phenotypic selection on power. We demonstrate that the power gain for an extreme phenotypic selection study design is much greater in rare variant studies than for studies of common variants. Our study confirms that studying phenotypic extremes is critical in rare variant studies because it boosts power in two ways: the typical increases from extreme sampling and increasing the proportion of relevant functional variants ascertained and thereby tested for association. Furthermore, we show that when combining statistical evidence through meta-analysis from an extreme-selected sample and a second separate population-based random sample, power is lower when a traditional sample size weighting is used compared with weighting by the noncentrality parameter. PMID:26350511

  7. Advanced sialoendoscopy techniques, rare findings, and complications.

    PubMed

    Nahlieli, Oded

    2009-12-01

    This article presents and discusses advanced minimally invasive sialoendoscopy and combined methods: endoscopy, endoscopic-assisted techniques, and external-lithotripsy combined procedures. It also presents rare situations and complications encountered during sialoendoscopic procedures. Sialoendoscopy is a relatively novel technique, which adds significant new dimensions to the surgeon's armamentarium for management of inflammatory salivary gland diseases. Because of the rapid development in minimally invasive surgical techniques, surgeons are capable of more facilely treating complicated inflammatory and obstructive conditions of the salivary glands.

  8. A Rare Hydrocephalus Complication: Cortical Blindness.

    PubMed

    Ünal, Emre; Göçmen, Rahşan; Işıkay, Ayşe İlksen; Tekşam, Özlem

    2015-01-01

    Cortical blindness related to bilateral occipital lobe infarction is an extremely rare complication of hydrocephalus. Compression of the posterior cerebral artery, secondary to tentorial herniation, is the cause of occipital infarction. Particularly in children and mentally ill patients, cortical blindness may be missed. Therefore, early diagnosis and treatment of hydrocephalus is important. We present herein a child of ventricular shunt malfunction complicated by cortical blindness.

  9. A Rare Case of Imitation Injury

    PubMed Central

    Srivastava, Paakhi; Gupta, Rishab; Varshney, Mohit; Sharan, Pratap

    2014-01-01

    The impact of media on cognitions and behaviors of adolescents is well-known. High frequency of exposure to media may distort the reality testing among predisposed youth, hence the rise in risk taking behaviors among this population. We present a rare manifestation of risk taking behavior in an adolescent who injected mercury in his body after exposure to a Hollywood film. The results of investigations and possible explanation to understand risk taking behavior in the present case are discussed. PMID:24860231

  10. Systematic variation of rare earths in monazite

    USGS Publications Warehouse

    Murata, K.J.; Rose, H.J.; Carron, M.K.

    1953-01-01

    Ten monazites from widely scattered localities have been analyzed for La, Ce, Pr, Nd, Sm, Gd, Y and Th by means of a combined chemical and emission spectrographic method. The analytical results, calculated to atomic percent of total rare earths (thorium excluded), show a considerable variation in the proportions of every element except praseodymium, which is relatively constant. The general variation trends of the elements may be calculated by assuming that the monazites represent different stages in a fractional precipitation process, and by assuming that there is a gradational increase in the precipitability of rare earth elements with decreasing ionic radius. Fractional precipitation brings about an increase in lanthanum and cerium, little change in praseodymium, and a decrease in neodymium, samarium, gadolinium, and yttrium. Deviations from the calculated lines of variation consist of a simultaneous, abnormal increase or decrease in the proportions of cerium, praseodymium, and neodymium with antipathetic decrease or increase in the proportions of the other elements. These deviations are ascribed to abnormally high or low temperatures that affect the precipitability of the central trio of elements (Ce, Pr, Nd) relatively more than that of the other elements. The following semiquantitative rules have been found useful in describing the composition of rare earths from monazite: 1. 1. The sum of lanthanum and neodymium is very nearly a constant at 42 ?? 2 atomic percent. 2. 2. Praseodymium is very nearly constant at 5 ?? 1 atomic percent. 3. 3. The sum of Ce, Sm, Gd, and Y is very nearly a constant at 53 ?? 3 atomic percent. No correlation could be established between the content of Th and that of any of the rare earth elements. ?? 1953.

  11. FIBULAR HEMIMELIA: A RARE CASE REPORT.

    PubMed

    Sisay, Samuel; Admassie, Daniel

    2015-07-01

    Fibular hemimelia is a rare congenital absence of the fibula that may occur as an isolated anomaly or as a part of a malformation syndrome. Shortening of the extremity is obvious at birth with leg-length discrepancy. On plain radiograph of the leg and foot, significant deficiency or absence of the fibula can be seen. In this case report, a 6 year old boy with fibular hemimelia is presented. Radiological diagnosis and differential diagnosis are discussed. PMID:26677527

  12. Extradural spinal meningioma: Revisiting a rare entity

    PubMed Central

    Bettaswamy, Guruprasad; Ambesh, Paurush; Das, Kuntal Kanti; Sahu, Rabi; Srivastava, Arun; Mehrotra, Anant; Jaiswal, Awadhesh; Jaiswal, Sushila; Behari, Sanjay

    2016-01-01

    Spinal meningiomas are mostly intradural in location although at times these are associated with some extradural extensions. Purely extradural spinal meningiomas (EDSMs) are however, extremely rare and when present, may cause diagnostic dilemma preoperatively. Only seven cases of pure EDSM have been reported till date. In this paper, we describe two cases of EDSM affecting the cervical spine and present their clinical profiles, radiological findings, operative management, and follow-up data, along with a review of the literature. PMID:27041890

  13. Horseshoe Appendix: An Extremely Rare Appendiceal Anomaly.

    PubMed

    Singh, Ch Gyan; Nyuwi, Kuotho T; Rangaswamy, Raju; Ezung, Yibenthung S; Singh, H Manihar

    2016-03-01

    Appendiceal anomalies are extremely rare malformations that are usually found incidentally. Agenesis and duplication of the appendix has been well documented however, the cases of horseshoe appendix reported is very limited, only four cases reported so far. Here, we report a four and half-year-old who underwent interval appendectomy. Intraoperatively both the ends of the appendix were found to be communicating with the cecum with two separate base or stump located at a sagital disposal- the so called "horseshoe appendix".

  14. Instabilities of rare rotating cold molecular clouds

    SciTech Connect

    Nekrasov, A. K.

    2009-03-15

    New electromagnetic streaming instabilities of rare rotating molecular clouds induced by the relative drift of ions, electrons, and dust grains in the equilibrium state are studied. The cases of a weak and strong collisional coupling of neutrals and ions in the perturbed state are involved. The dust grains are considered as unmagnetized having weak collisional coupling with neutrals in perturbations. The compressibility is taken into account. Axisymmetric perturbations with growth rates much larger than the rotation frequency are found.

  15. [Pneumomediastinum during a dermatomyositis: a rare entity].

    PubMed

    Majdoub, Senda; Zemni, Houcem; Zaghouani, Houneida; Ben Salem, Halima Houda; Amara, Habib; Bakir, Dajla; Kraeim, Chakib

    2016-01-01

    Dermatomyositis is a connective characterized by inflammation of skeletal muscle with cutaneous manifestations. Their etiologies, still unknown, associate environmental and genetic factors. Among lung complications described, interstitial pneumopathies are common complications. Other complications are rarely reported as pneumomediastinum. We report a case of pneumomediastinum with aeric in massive skin dissection occurred in a patient with dermatomyositis. We will discuss the frequency, causes and pathophysiology of the disease according to the literature. PMID:27200145

  16. Concerning the Facility for Rare Isotope Beams

    SciTech Connect

    Symons, James

    2009-01-01

    James Symons, Nuclear Science Division Director at Lawrence Berkeley Lab, and Daniela Leitner, head of operations at Berkeley Lab's 88-Inch Cyclotron, discuss major contributions to the new Facility for Rare Isotope Beams (FRIB) at Michigan State University, including ion source, which will based on the VENUS source built for the 88-Inch Cyclotron, and the GRETA gamma-ray detector now under construction there.

  17. Psittacosis: Rare Respiratory Problem in Children.

    PubMed

    Ijaz, Iftikhar; Naz, Samia; Naz, Farrah; Qamar, Sobia; Nazar, Mobeen

    2016-08-01

    Psittacosis is a rare disease particularly in children with usual presentation of respiratory and constitutional symptoms. The cases may remain undiagnosed or diagnosis may be delayed because of lack of awareness among the paediatricians and physicians. Early diagnosis is very important as this is potentially curable and preventable disease. An interesting case of psittacosis is being reported here, which has been treated successfully with azithromycin. PMID:27539767

  18. Tuberculosis, a rare cause of haematuria.

    PubMed

    Silverman, Joshua Anton; Patel, Kunal; Hotston, Matthew

    2016-01-01

    Tuberculosis of the bladder is a rare pathology in the western world and often not considered as a differential when seeing patients with common urological presentations. This case illustrates a 69-year-old woman in rural England who presented with visible haematuria and was subsequently diagnosed with tuberculosis of the bladder. The case aims to highlight the significance of early diagnosis and treatment, which in turn may help prevent disease progression and organ dysfunction. PMID:27440856

  19. Intrathymic epidermoid cyst: a very rare condition.

    PubMed

    Monaco, Francesco; Barone, Mario; Monaco, Maurizio

    2015-03-01

    A 65-year-old man presented with a nonspecific thymic neoplasm following blunt thoracic trauma. The lesion increased in size over 12 years, to reach 47 mm in diameter. After thymectomy, the lesion was described as an epidermoid lining cyst composed of thickened stratified squamous epithelium. We assume that this rare pathological condition was caused by skin tissue islands and fat migrating into the mediastinum.

  20. SEPARATION OF RARE EARTHS BY SOLVENT EXTRACTION

    DOEpatents

    Peppard, D.F.; Mason, G.W.

    1960-10-11

    A process is given for separating lanthanide rare earths from each other from an aqueous mineral acid solution, e.g., hydrochloric or nitric acid of a concentration of above 3 M, preferably 12 to 16 M, by extraction with a water- immiscible alkyl phosphate, such as tributyl phosphate or a mixture of mono-, di- and tributyl phosphate, and fractional back-extraction with mineral acid whereby the lanthanides are taken up by the acid in the order of increasing atomic number.

  1. Eosinophilic Fasciitis: A Rare Skin Sclerosis

    PubMed Central

    Servy, Amandine; Clérici, Thierry; Malines, Caroline; Le Parc, Jean-Marie; Côté, Jean-François

    2011-01-01

    Eosinophilic fasciitis (Schulman's syndrome) is a rare disease with specific clinical symptoms such as the groove sign which facilitate diagnosis. We report a typical case of eosinophilic fasciitis in an otherwise healthy 49-year-old man who presented with “prayer and groove signs”. Histological analysis showed sclerosis and eosinophilic infiltration of the fascia. The patient was successfully treated with systemic corticotherapy and Cyclosporine. A short review of the clinicopathological features of the lesions is presented. PMID:21151540

  2. Carney complex: Clinical and genetic 2010 update.

    PubMed

    Vezzosi, D; Vignaux, O; Dupin, N; Bertherat, J

    2010-12-01

    First described in the mid 1980s, Carney complex is a rare dominantly heritable multiple endocrine neoplasia syndrome that affects endocrine glands as the adrenal cortex, the pituitary and the thyroid. It is associated with many other nonendocrine tumors, including cardiac myxomas, testicular tumors, melanotic schwannoma, breast myxomatosis, and abnormal pigmentation or myxomas of the skin. The Carney complex gene 1 was identified 10 years ago as the regulatory subunit 1A of protein kinase A (PRKAR1A) located at 17q22-24. An inactivating heterozygous germ line mutation of PRKAR1A is observed in about two-thirds of Carney complex patients. This last decade many progresses have been done in the knowledge of this rare disease and its genetics. This review outlines the current state of this knowledge on Carney complex. PMID:20850710

  3. Social media methods for studying rare diseases.

    PubMed

    Schumacher, Kurt R; Stringer, Kathleen A; Donohue, Janet E; Yu, Sunkyung; Shaver, Ashley; Caruthers, Regine L; Zikmund-Fisher, Brian J; Fifer, Carlen; Goldberg, Caren; Russell, Mark W

    2014-05-01

    For pediatric rare diseases, the number of patients available to support traditional research methods is often inadequate. However, patients who have similar diseases cluster "virtually" online via social media. This study aimed to (1) determine whether patients who have the rare diseases Fontan-associated protein losing enteropathy (PLE) and plastic bronchitis (PB) would participate in online research, and (2) explore response patterns to examine social media's role in participation compared with other referral modalities. A novel, internet-based survey querying details of potential pathogenesis, course, and treatment of PLE and PB was created. The study was available online via web and Facebook portals for 1 year. Apart from 2 study-initiated posts on patient-run Facebook pages at the study initiation, all recruitment was driven by study respondents only. Response patterns and referral sources were tracked. A total of 671 respondents with a Fontan palliation completed a valid survey, including 76 who had PLE and 46 who had PB. Responses over time demonstrated periodic, marked increases as new online populations of Fontan patients were reached. Of the responses, 574 (86%) were from the United States and 97 (14%) were international. The leading referral sources were Facebook, internet forums, and traditional websites. Overall, social media outlets referred 84% of all responses, making it the dominant modality for recruiting the largest reported contemporary cohort of Fontan patients and patients who have PLE and PB. The methodology and response patterns from this study can be used to design research applications for other rare diseases.

  4. Rare tumors of the internal auditory canal.

    PubMed

    Dazert, Stefan; Aletsee, Christoph; Brors, Dominik; Mlynski, Robert; Sudhoff, Holger; Hildmann, Henning; Helms, Jan

    2005-07-01

    The study was performed to identify the incidence and histology of rare tumors with growth restricted to the internal auditory canal (IAC) that are different from vestibular schwannoma (VS). Furthermore, the question was addressed whether a preoperative diagnosis would be possible in these cases. A series of 351 patients that were operated on for IAC tumors through a transtemporal or translabyrinthine approach was investigated retrospectively. Cases with a tumor entity other than VS were analyzed for symptoms, radiological diagnosis, intraoperative findings and postoperative histolopatology to determine if a differential diagnosis to the common VS can be established prior to surgery. In 15 out of 351 cases (4.3%), uncommon processes of the IAC were determined by histology (6 lipomas, 3 hemangiomas, 2 neurofibromas, 2 menigiomas, 1 facial neuroma and 1 case of bilateral malignant lymphoma). The symptoms and the clinical manifestations were typical for patients with VS so that a preoperative differential diagnosis was not possible in the majority of cases. An analysis of the operation reports revealed that in 10 out of the 15 cases the surgeon suspected an unusual tumor of the IAC during surgery. The results of the present investigation suggest that rare lesions of the IAC can be expected in less than 5% of the cases and that preoperative diagnosis of rare IAC tumors is difficult. Intraoperative findings such as adhesion to cranial nerves and consistency of the tumor often indicate unusual processes, but histological analysis of the removed tissue is essential for the definite diagnosis. PMID:15947938

  5. Contraception, pregnancy and rare respiratory diseases.

    PubMed

    Lara, Beatriz; Fornet, Inocencia; Goya, María; López, Francisco; De Miguel, José Ramón; Molina, María; Morales, Pilar; Quintana, Esther; Salicrú, Sabina; Suárez, Elena; Usetti, Piedad; Zurbano, Felipe

    2012-10-01

    Three percent of rare diseases are pneumopathies. Improvements in survival and quality of life have led to a new situation where patients with rare respiratory diseases want to plan their reproductive lives. The intention of this review is to present the experience accumulated in the field of the reproductive health of these women. In several rare respiratory diseases, a genetic base has been identified. The combination of preimplantation genetic diagnosis, assisted reproduction and molecular biology techniques enable embryos to be studied genetically before being transplanted into the uterus. Therefore, the risk for transmitting a certain disease or chromosome alteration may be avoided in high-risk couples, and prenatal diagnoses may be done by chorionic villus sampling or amniocentesis. As a general rule, contraceptive methods should be personalized by evaluating the general state of female patients as well as their possibilities for pregnancy, complications and the future possibility of lung transplantation. In lymphangioleiomyomatosis and primary pulmonary hypertension, pregnancy is considered a contraindication. In the former, there is a very high risk for pneumothorax and loss of lung function. In the latter, mortality reaches 33%. In cystic fibrosis, it is estimated that each year 4% of patients become pregnant and there is no observed loss in lung function. There are special circumstances in childbirth that should be considered as well as specific anesthesia risks. The present review suggests that the decision about contraceptive methods, pregnancy as a contraindication or conditions for managing a pregnancy should be both individualized and multidisciplinary. PMID:22771004

  6. A Network Approach to Rare Disease Modeling

    NASA Astrophysics Data System (ADS)

    Ghiassian, Susan; Rabello, Sabrina; Sharma, Amitabh; Wiest, Olaf; Barabasi, Albert-Laszlo

    2011-03-01

    Network approaches have been widely used to better understand different areas of natural and social sciences. Network Science had a particularly great impact on the study of biological systems. In this project, using biological networks, candidate drugs as a potential treatment of rare diseases were identified. Developing new drugs for more than 2000 rare diseases (as defined by ORPHANET) is too expensive and beyond expectation. Disease proteins do not function in isolation but in cooperation with other interacting proteins. Research on FDA approved drugs have shown that most of the drugs do not target the disease protein but a protein which is 2 or 3 steps away from the disease protein in the Protein-Protein Interaction (PPI) network. We identified the already known drug targets in the disease gene's PPI subnetwork (up to the 3rd neighborhood) and among them those in the same sub cellular compartment and higher coexpression coefficient with the disease gene are expected to be stronger candidates. Out of 2177 rare diseases, 1092 were found not to have any drug target. Using the above method, we have found the strongest candidates among the rest in order to further experimental validations.

  7. Is heterostyly rare on oceanic islands?

    PubMed Central

    Watanabe, Kenta; Sugawara, Takashi

    2015-01-01

    Heterostyly has been considered rare or absent on oceanic islands. However, there has been no comprehensive review on this issue. Is heterostyly truly rare on oceanic islands? What makes heterostyly rare on such islands? To answer these questions, we review the reproductive studies on heterostyly on oceanic islands, with special emphasis on the heterostylous genus Psychotria in the Pacific Ocean as a model system. Overall, not many reproductive studies have been performed on heterostylous species on oceanic islands. In Hawaiian Psychotria, all 11 species are thought to have evolved dioecy from distyly. In the West Pacific, three species on the oceanic Bonin and Lanyu Islands are distylous (Psychotria homalosperma, P. boninensis and P. cephalophora), whereas three species on the continental Ryukyu Islands show various breeding systems, such as distyly (P. serpens), dioecy (P. rubra) and monoecy (P. manillensis). On some other Pacific oceanic islands, possibilities of monomorphy have been reported. For many Psychotria species, breeding systems are unknown, although recent studies indicate that heterostylous species may occur on some oceanic islands. A shift from heterostyly to other sexual systems may occur on some oceanic islands. This tendency may also contribute to the rarity of heterostyly, in addition to the difficulty in colonization/autochthonous evolution of heterostylous species on oceanic islands. Further investigation of reproductive systems of Psychotria on oceanic islands using robust phylogenetic frameworks would provide new insights into plant reproduction on oceanic islands. PMID:26199401

  8. Rare Case of Rhizomelic Chondrodysplasia Punctata

    PubMed Central

    Mahale, Yashwant; Kadu, Vikram V.; Chaudhari, Amit

    2015-01-01

    Introduction: Rhizomelic chondrodysplasia punctata (RCDP) is a very rare disease. It impairs the normal development of many parts of the body. The features of this disorder include bony abnormalities, severe mental retardation, joint contractures, cataract and recurrent respiratory infections and breathing problems. Seizures and Distinctive facial features including prominent forehead, depressed nasal bridge and small nose is also associated with this pathology. Being rare, this is very difficult to diagnose when presented at OPD. Proper history and meticulous examination is extremely necessary. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with RCDP. Case Report: 5 yrs old male child presented with chest infection and periarticular swelling of all the small and large joints. The patient was walking with limp. History elicited that the child was born of a consanguineous marriage. The child was delivered at home. Birth weight was 2.4 kgs. He repeatedly had upper respiratory tract infections and was taking treatment for the same. He was further investigated in the form of clinical, biochemical and radiological assessment which stated that the patient was suffering from RCDP. Conclusion: This is a rare presentation. Though this is not curable, management of RCDP is symptomatic and supportive and may include physiotherapy and orthopedic procedures (in later stages) to improve function. The child may also undergo cataract surgery to improve vision. PMID:27299065

  9. Complex networks: Patterns of complexity

    NASA Astrophysics Data System (ADS)

    Pastor-Satorras, Romualdo; Vespignani, Alessandro

    2010-07-01

    The Turing mechanism provides a paradigm for the spontaneous generation of patterns in reaction-diffusion systems. A framework that describes Turing-pattern formation in the context of complex networks should provide a new basis for studying the phenomenon.

  10. Selective Extraction of Americium(III) over Europium(III) with the Pyridylpyrazole Based Tetradentate Ligands: Experimental and Theoretical Study.

    PubMed

    Wang, Jieru; Su, Dongping; Wang, Dongqi; Ding, Songdong; Huang, Chao; Huang, Huang; Hu, Xiaoyang; Wang, Zhipeng; Li, Shimeng

    2015-11-16

    1,3-Bis[3-(2-pyridyl)pyrazol-1-yl]propane (Bippp) and 1,2-bis[3-(2-pyridyl)pyrazyl-1-methyl]benzene (Dbnpp), the pyridylpyrazole based tetradentate ligands, were synthesized and characterized by MS, NMR, and FT-IR. The solvent extraction and complexation behaviors of Am(III) and Eu(III) with the ligands were investigated experimentally and theoretically. In the presence of 2-bromohexanoic acid, the two ligands can effectively extract Am(III) over Eu(III) and other rare earth(III) metals (RE(III)) in HNO3 solution with the separation factors (SFAm/RE) ranging from 15 to 60. Slope analyses showed that both Am(III) and Eu(III) were extracted as monosolvated species, which agrees well with the results observed from X-ray crystallography and MS analyses. The stability constants (log K) obtained from UV-vis titration for Eu(III) complexes with Bippp and Dbnpp are 4.75 ± 0.03 and 4.45 ± 0.04, respectively. Both UV-vis titration and solvent extraction studies indicated that Bippp had stronger affinity for Eu(III) than Dbnpp, which is confirmed by density functional theory (DFT) calculations. DFT calculations revealed that the AmL(NO3)3 (L = Bippp and Dbnpp) complexes are thermodynamically more stable in water than their Eu(III) analogues, which is caused by greater covalency of the Am-N than Eu-N bonds. Theoretical studies gave an insight into the nature of the M(III)-ligand bonding interactions. PMID:26517736

  11. Accepting risk in the acceleration of drug development for rare cancers.

    PubMed

    Ashley, David; Thomas, David; Gore, Lia; Carter, Rob; Zalcberg, John R; Otmar, Renée; Savulescu, Julian

    2015-04-01

    Rare cancers collectively contribute a disproportionate fraction of the total burden of cancer. The oncology community is increasingly facing small numbers of patients with each cancer subtype, requiring cooperation and collaboration to complete multicentre trials that advance knowledge and patient care. At the same time, new insights into the biology of rare cancers have led to an explosion in knowledge and development of targeted agents. These insights and techniques are set to revolutionise the care of patients with cancer. However, drug development strategies and the availability of new agents for rare cancers are at risk of stalling owing to the ever-increasing complexity and costs of clinical trials. Finding solutions to these problems is imperative to the future of cancer care. We propose that a greater degree of risk sharing is needed than is currently accepted to enable the use of new methods with confidence, and to keep pace with scientific advancement. PMID:25846099

  12. Rare combination of anomalies and its management with conservative and effective approach

    PubMed Central

    Thangarajan, Saravanan Thirumalai; Choudhury, Minati; Padmanabhan, T. V.; Shanmuganathan, N.

    2016-01-01

    Transverse vaginal septum is a rare anomaly that results from incomplete fusion of urogenital sinus, and the vaginal parts of the Mullerian duct. Cervical atresia/dysgenesis is still a rare uterovaginal anomaly that can be congenital or acquired leading to fertility problems. Transverse vaginal septum when it coexists with cervical dysgenesis, it becomes a rare combination where management becomes highly complex. This case report deals with interdisciplinary role of conservative surgical management and custom made prosthetic appliances in the management of transverse vaginal septum and cervical atresia at an early stage and perhaps this goes to be the first-line treatment option with the expertise in laparoscopic surgery along with prosthetic management. PMID:27110080

  13. A rare case of oligoastrocytoma with atypical symptoms initially diagnosed as multiple sclerosis: A case report

    PubMed Central

    GAO, JIGUO; TI, YANLI; MENG, HONGMEI; ZHAO, TENG; ZHOU, CHUNKUI; ZHU, LIJUN; FANG, SHAOKUAN

    2016-01-01

    Oligoastrocytoma (OA) is an extremely rare tumor that may be difficult to diagnose, as it mimics multiple sclerosis (MS) clinically and radiologically. OA and MS are both space-occupying lesions. The symptoms of OA are complex and depend on tumor location and size. The clinical symptoms of OA are frequently not typical of glioma; therefore, OA is associated with a high misdiagnosis rate. We herein share our experience with diagnosing a rare OA case with atypical symptoms, which was initially diagnosed as MS, while stereotactic biopsy provided the final diagnosis. Due to the rarity and high misdiagnosis rate of OAs, it is suggested that clinical physicians update their knowledge regarding brain tumor classification and increase their awareness of rare tumor occurrence. PMID:26893863

  14. Anthropogenic Cycles of Rare Earth Elements

    NASA Astrophysics Data System (ADS)

    Du, X.; Graedel, T. E.

    2009-12-01

    This research will develop quantitatively resolved anthropogenic cycles and in-use stocks for the rare earth metals specifically cerium, lanthanum and dysprosium in Japan, China, and the U.S. for the year of 2007. Rare earth elements (REE) is a group of 17 scare metals widely used in a growing number of emerging technologies and have been in high demand for emerging technologies as raw materials during past the three decades. New market participants from newly industrializing countries, primarily China, have had strong impacts on the demand of share. Consequently, the importance to sustain a reliable, steady, uninterrupted supply on global market triggered comprehensive research to recognize and understand the life cycles of rare earths. Moreover, because China plays a dominant role in mining production since 1990, it requires the assessment for the countries, which are almost completely dependent on imports from China with respect to rare earth resources. The study aims to analyze the flows and stocks of rare earth elements individually as elemental form in spite of their natural geological co-occurrence and mixed composition in applications. By applying the method of Material Flow Analysis (MFA) work has been done on evaluating current and historical flows of specific technologically significant materials, for example, copper, zinc, nickel, etc., determining the stocks available in different types of reservoirs (e.g., lithosphere, in-use) and the flows among the reservoirs, developing scenarios of possible futures of metal use, and assessing the environmental and policy implications of the results. Therefore, REE as a new target deserves inclusion because of its potential demand-supply conflict and importance to secure the competitive advantage of technical innovation in future. This work will generate a quantitatively resolved anthropogenic life cycle and in-use stocks for REE for the main target countries for a chosen year, 2007, providing flows and stocks from

  15. Complex chimerism

    PubMed Central

    Ma, Kimberly K.; Petroff, Margaret G.; Coscia, Lisa A.; Armenti, Vincent T.; Adams Waldorf, Kristina M.

    2013-01-01

    Thousands of women with organ transplantation have undergone successful pregnancies, however little is known about how the profound immunologic changes associated with pregnancy might influence tolerance or rejection of the allograft. Pregnant women with a solid organ transplant are complex chimeras with multiple foreign cell populations from the donor organ, fetus, and mother of the pregnant woman. We consider the impact of complex chimerism and pregnancy-associated immunologic changes on tolerance of the allograft both during pregnancy and the postpartum period. Mechanisms of allograft tolerance are likely dynamic during pregnancy and affected by the influx of fetal microchimeric cells, HLA relationships (between the fetus, pregnant woman and/or donor), peripheral T cell tolerance to fetal cells, and fetal minor histocompatibility antigens. Further research is necessary to understand the complex immunology during pregnancy and the postpartum period of women with a solid organ transplant. PMID:23974274

  16. Complex limbal choristoma in nevus sebaceous syndrome.

    PubMed

    Nema, Nitin; Singh, Kuldeep; Verma, Amit

    2012-01-01

    Excision of an epibulbar choristoma followed by amniotic membrane grafting was performed on a 3-month-old baby who presented with nevus sebaceous syndrome. Upon histopathologic examination, the excised mass was seen to be a complex choristoma, a rare ocular tumor. Amniotic membrane transplantation is currently the most acceptable modality of treatment of limbal choristoma, with good cosmetic outcome.

  17. Insights into Biological Complexity from Simple Foundations.

    PubMed

    Albergante, L; Liu, D; Palmer, S; Newman, T J

    2016-01-01

    We discuss an overtly "simple approach" to complex biological systems borrowing selectively from theoretical physics. The approach is framed by three maxims, and we show examples of its success in two different applications: investigating cellular robustness at the level of gene regulatory networks and quantifying rare events of DNA replication errors. PMID:27193550

  18. Realizing Wisdom Theory in Complex Learning Networks

    ERIC Educational Resources Information Center

    Kok, Ayse

    2009-01-01

    The word "wisdom" is rarely seen in contemporary technology and learning discourse. This conceptual paper aims to provide some clear principles that answer the question: How can we establish wisdom in complex learning networks? By considering the nature of contemporary calls for wisdom the paper provides a metatheoretial framework to evaluate the…

  19. Rare earth abundances and Rb-Sr systematics of basalts, gabbro, anorthosite and minor granitic rocks from the Indian Ocean Ridge System, Western Indian Ocean

    USGS Publications Warehouse

    Hedge, C.E.; Futa, K.; Engel, C.G.; Fisher, R.L.

    1979-01-01

    Basalts dredged from the Mid-Indian Ocean Ridge System have rare earth, Rb, and Sr concentrations like those from other mid-ocean ridges, but have slightly higher Sr87/Sr86 ratios. Underlying gabbroic complexes are similar to the basalts in Sr87/Sr86, but are poorer K, Rb, and in rare earths. The chemical and isotopic data, as well as the geologic relations suggest a cumulate origin for the bulk of the gabbroic complexes. ?? 1979 Springer-Verlag.

  20. Graph distance for complex networks

    NASA Astrophysics Data System (ADS)

    Shimada, Yutaka; Hirata, Yoshito; Ikeguchi, Tohru; Aihara, Kazuyuki

    2016-10-01

    Networks are widely used as a tool for describing diverse real complex systems and have been successfully applied to many fields. The distance between networks is one of the most fundamental concepts for properly classifying real networks, detecting temporal changes in network structures, and effectively predicting their temporal evolution. However, this distance has rarely been discussed in the theory of complex networks. Here, we propose a graph distance between networks based on a Laplacian matrix that reflects the structural and dynamical properties of networked dynamical systems. Our results indicate that the Laplacian-based graph distance effectively quantifies the structural difference between complex networks. We further show that our approach successfully elucidates the temporal properties underlying temporal networks observed in the context of face-to-face human interactions.