20 research outputs found

    Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

    No full text
    Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability

    Christian Felix Weisse'ns Lieder und Fabeln für Kinder und junge Leute

    No full text
    The title-page continues Nach des Verfassers Wunsche gesammelt und herausgegeben von M. Samuel Gottlob Frisch. This fragile work with severed paper cover has five books, only the last of which includes Fabeln. That sections runs from 173 through 239. Weisse knew Gellert and Lessing as fellow students. According to German Wikopedia, Weiße zählt zu den bedeutenden Vertretern der Aufklärung und gilt als Begründer der deutschen Kinder- und Jugendliteratur. Among other accomplishments, he founded a magazine for children. He died in 1804. I tried several fables out. Der Arme Schuster (189) seems straight out of La Fontaine. Der Affe und der Stier (196) follows a familiar pattern: bother the mighty once or twice and you might get away lucky. Try it a third time, and you become the victim of your own stupidity! Die Katze und die Tauben (199) is a reworking of a familiar theme: the cat is a good friend to the birds until one day she gets to lick a bit of blood. The one copper engraving promised on the title-page seems to be missing. Most of the pages are uncut. Four pages of the beginning T of C have landed at the end of the book.Language note: GermanChristian Felix Weisse; M. Samuel Gottlob Frisc

    Designing role-based view for object-relational databases

    No full text
    In a federated database system, a view mechanism is crucial since it is used to define exportable subsets of data ; to perform a virtual restructuring d ataset; and to construct the integrated schema. The view service in federated databa se systems must be capable of retaining as much semantic information as possible. The object-oriented ( 0 - 0 ) model was considered the suitable canonical data model since it meets the original criteria for canonical model selection. However, with the emergence of stronger object-relational (0 -R ) model, the re is a clear argument for using an 0 - R canonical model in the federation. Hence, research should now focus on th e development of semantically powerful view mechanism for th e newer model. Meanwhile, the availability of real 0 -R technologies offers researchers the opportunity to develop different forms of view mechanisms. The concept of roles has been widely studied in 0 - 0 modelling and development. The role model represents some characteristics that the traditional 0-0 model lacked, such as object migration, multiple occurrences and context-dependent access. While many forms of 0-0 views were designed for the 0-0 canonical model, one option was to extend the 0-0 model to incorporate a role model. In a role model, the real entity is modelled in the form of a role rather than an object. An object represents the permanent properties of an entity is a root object; and an object represents the temporary properties of an entity is a role object. The contribution of this research is to design a view system that employees the concept of roles for the 0 -R canonical model in a federated database system. In this thesis, an examination of the current 0 -R metamodel is provided first in order to provide an environment for recognising the roleview metadata and measuring the view performance; then a Roleview Definition Language (RDL) is introduced, along with the semantics for defining virtual classes and generating virtua l extents; finally, a working prototype is provided to prove th e role-based view system is implementable and the syntax is semantically correct

    Path Queries on Compressed XML

    No full text
    Central to any XML query language is a path language such as XPath which operates on the tree structure of the XML document. We demonstrate in this paper that the tree structure can be effectively compressed and manipulated using techniques derived from symbolic model checking. Specifically, we show first that succinct representations of document tree structures based on sharing subtrees are highly effective. Second, we show that compressed structures can be queried directly and efficiently through a process of manipulating selections of nodes and partial decompression. We study both the theoretical and experimental properties of this technique and provide algorithms for querying our compressed instances using node-selecting path query languages such as XPath. We believe the ability to store and manipulate large portions of the structure of very large XML documents in main memory is crucial to the development of efficient, scalable native XML databases and query engines

    Determination of interface state density in high-k dielectric-silicon system from conductance-frequency measurements

    No full text
    Capacitance-voltage (C-V ) and conductance-frequency ( G-ω ) techniques were modified in order to take into account the leakage current flowing through the metal-oxide-semiconductor (MOS) structure. The results of measurements of interface state densities in several high −k dielectric – silicon systems, including transition metal (Hf) and rare-earth metal (Gd, Nd) oxides, ternary compounds (LaLuO₃) and silicate (LaSiOx), are presented. It was shown that the interface state densities can be as low as ( 1.5...2) × 10¹¹ eV⁻¹cm⁻² for Al-HfO₃-Si, Pt-Gd₂O₃-Si and Pt-LaLuO₃-Si systems if the dielectric layer is deposited onto (100) silicon wafer surface. The electrically active states are attributed presumably to silicon dangling bonds at the interface between dielectric and semiconductorThis work has been partly funded by the National Academy of Sciences of Ukraine in frames of the Complex Program of Fundamental Research “Nanosystems, nanomaterials and nanotechnologies”, project No.53/32/10 . Author is grateful to O. Buiu, S. Hall, M.C. Lemme, H.J. Osten, A. Laha, P.K. Hurley, K. Cherkaoui, S. Monaghan, H.D.B. Gottlob, and M. Schmidt for providing the samples for measurements, and to V.S. Lysenko and A.N. Nazarov for useful discussions and valuable comments

    Determination of interface state density in high-k dielectric-silicon system from conductance-frequency measurements

    No full text
    Capacitance-voltage (C-V ) and conductance-frequency ( G-ω ) techniques were modified in order to take into account the leakage current flowing through the metal-oxide-semiconductor (MOS) structure. The results of measurements of interface state densities in several high −k dielectric – silicon systems, including transition metal (Hf) and rare-earth metal (Gd, Nd) oxides, ternary compounds (LaLuO₃) and silicate (LaSiOx), are presented. It was shown that the interface state densities can be as low as ( 1.5...2) × 10¹¹ eV⁻¹cm⁻² for Al-HfO₃-Si, Pt-Gd₂O₃-Si and Pt-LaLuO₃-Si systems if the dielectric layer is deposited onto (100) silicon wafer surface. The electrically active states are attributed presumably to silicon dangling bonds at the interface between dielectric and semiconductorThis work has been partly funded by the National Academy of Sciences of Ukraine in frames of the Complex Program of Fundamental Research “Nanosystems, nanomaterials and nanotechnologies”, project No.53/32/10 . Author is grateful to O. Buiu, S. Hall, M.C. Lemme, H.J. Osten, A. Laha, P.K. Hurley, K. Cherkaoui, S. Monaghan, H.D.B. Gottlob, and M. Schmidt for providing the samples for measurements, and to V.S. Lysenko and A.N. Nazarov for useful discussions and valuable comments

    Lietuviškasis Adomo Gottlobo Casparini veiklos matas

    No full text
    Adamo Gottlobo Casparini (1715-1788) vargonų paveldas – ryškus vėlyvojo baroko epochos pėdsakas Lietuvos vargonų istorijoje. Straipsnyje nuosekliai plėtojamas teiginys, kad A. G. Casparini vargonų užsakymas ir jų statyba buvo ne išimtinis muzikinio gyvenimo įvykis, bet dėsninga kultūrinės raidos apraiška. Šiam teiginiui argumentuoti bei kultūrinei situacijai nušviesti yra analizuojami išlikę autentiški dokumentai (J. Adlungo, C. P. E. Bacho, J. D. Hollando, G. Forsterio veikalai bei raštai), apžvelgiamas Lietuvoje tuo metu besireiškiančių muzikos kūrėjų paveldas. Pateikiami duomenys apie Casparini vargondirbių giminę, plačiau pristatoma A. G. Casparini asmenybė. Įvertinami mažiau žinomi faktai, susiję su A. G. Casparini 1776 m. pastatytais Vilniaus Šv. Dvasios (dominikonų) bažnyčios vargonais. Daug dėmesio skirta Lietuvoje tuo metu gyvenusių Johanno Hollando (1746-1827) ir Dietricho Ewaldo von Grotthusso (1751-1786) kūrybai. Detaliai apibūdintos kultūrinės ir istorinės sąlygos bei aplinkybės, lėmusios A. G. Casparini veiklą Lietuvoje, akcentuota bendraeuropinės meninės integracijos intencija kaip reikšminga Lietuvos XVIII a. antrosios pusės muzikinės raidos apraiška. Ypatingai pažymėta, kad Casparini bei kitų to meto Lietuvoje kūrusių muzikų sąsajos su iškiliausiais Europos menininkais – XVIII a. Lietuvos muzikos paveldui išliekamąją vertę suteikiantis veiksnys.The organ heritage of Adam Gottlob Casparini (1715-1788) is a distinct late-Baroque mark in the history of Lithuanian organs. The paper develops with consistency the idea that the commission and production of A. G. Casparini’s organs were a regular manifestation of cultural development rather than an exceptional event of musical life. This idea is supported by and the cultural situation is based on analysis of authentic documents available (works of J. Adlung, C. P. E. Bach, J. D. Holland and G. Forster). The study also surveys the heritage of composers that were active in Lithuania at that time. The author provides information about the Casparini family of organ builders, focusing on A. G. Casparini’s personality in greater detail. The paper gives an evaluation of less familiar facts relating to the organ of the Church of the Holy Spirit (Dominican Church) in Vilnius built by A. G. Casparini in 1776. A lot of attention is devoted to the creative work of Johann Holland (1746-1827) and Dietrich Ewald von Grotthuss (1751-1786) who resided in Lithuania at that time. The author defines in detail the cultural and historical conditions that determined A. G. Casparini’s activities in Lithuania, emphasises the intent of pan-European artistic integration as a significant manifestation of Lithuania's musical development in the second half of the 18th c. It should be stressed in particular that relations of Casparini and other musicians who composed in Lithuania back them with the most outstanding European artists are a factor that grants a long term value to the 18th-c. Lithuanian music heritage

    <em>SRPK3</em> Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability

    No full text
    \ua9 2024 The Author(s). Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. Objective: Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these disorders caused by genetic defects on the X chromosome, affecting about 2 out of 1,000 males. In syndromic form, it leads to a broad range of cognitive, behavioral, ocular, and physical disabilities. Methods: Employing exome or genome sequencing, here we identified 4 missense variants (c.475C &gt; G; p.H159D, c.1373C &gt; A; p.T458N, and c.1585G &gt; A; p.E529K, c.953C &gt; T; p.S318L) and a putative truncating variant (c.1413_1414del; p.Y471*) in the SRPK3 gene in 9 XLID patients from 5 unrelated families. To validate SRPK3 as a novel XLID gene, we established a knockout (KO) model of the SRPK3 orthologue in zebrafish. Results: The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Together, these data indicate a pathological role of SRPK3 in neurodevelopmental disorders. In post-fertilization day 5 larvae (free swimming stage), KO zebrafish exhibited severe deficits in eye movement and swim bladder inflation, mimicking uncontrolled ocular movement and physical clumsiness observed in human patients. In adult KO zebrafish, cerebellar agenesis and behavioral abnormalities were observed, recapitulating human phenotypes of cerebellar atrophy and intellectual disability. Interpretation: Overall, these results suggest a crucial role of SRPK3 in the pathogenesis of syndromic X-linked intellectual disability and provide new insights into brain development, cognitive and ocular dysfunction in both humans and zebrafish. ANN NEUROL 2024

    Implementation of Web Query Languages Reconsidered

    No full text
    Visions of the next generation Web such as the "Semantic Web" or the "Web 2.0" have triggered the emergence of a multitude of data formats. These formats have different characteristics as far as the shape of data is concerned (for example tree- vs. graph-shaped). They are accompanied by a puzzlingly large number of query languages each limited to one data format. Thus, a key feature of the Web, namely to make it possible to access anything published by anyone, is compromised. This thesis is devoted to versatile query languages capable of accessing data in a variety of Web formats. The issue is addressed from three angles: language design, common, yet uniform semantics, and common, yet uniform evaluation. % Thus it is divided in three parts: First, we consider the query language Xcerpt as an example of the advocated class of versatile Web query languages. Using this concrete exemplar allows us to clarify and discuss the vision of versatility in detail. Second, a number of query languages, XPath, XQuery, SPARQL, and Xcerpt, are translated into a common intermediary language, CIQLog. This language has a purely logical semantics, which makes it easily amenable to optimizations. As a side effect, this provides the, to the best of our knowledge, first logical semantics for XQuery and SPARQL. It is a very useful tool for understanding the commonalities and differences of the considered languages. Third, the intermediate logical language is translated into a query algebra, CIQCAG. The core feature of CIQCAG is that it scales from tree- to graph-shaped data and queries without efficiency losses when tree-data and -queries are considered: it is shown that, in these cases, optimal complexities are achieved. CIQCAG is also shown to evaluate each of the aforementioned query languages with a complexity at least as good as the best known evaluation methods so far. For example, navigational XPath is evaluated with space complexity O(q d) and time complexity O(q n) where q is the query size, n the data size, and d the depth of the (tree-shaped) data. CIQCAG is further shown to provide linear time and space evaluation of tree-shaped queries for a larger class of graph-shaped data than any method previously proposed. This larger class of graph-shaped data, called continuous-image graphs, short CIGs, is introduced for the first time in this thesis. A (directed) graph is a CIG if its nodes can be totally ordered in such a manner that, for this order, the children of any node form a continuous interval. CIQCAG achieves these properties by employing a novel data structure, called sequence map, that allows an efficient evaluation of tree-shaped queries, or of tree-shaped cores of graph-shaped queries on any graph-shaped data. While being ideally suited to trees and CIGs, the data structure gracefully degrades to unrestricted graphs. It yields a remarkably efficient evaluation on graph-shaped data that only a few edges prevent from being trees or CIGs
    corecore