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Sample records for julius von sachs

  1. Basic versus applied research: Julius Sachs (1832-1897) and the experimental physiology of plants.

    Science.gov (United States)

    Kutschera, Ulrich

    2015-01-01

    The German biologist Julius Sachs was the first to introduce controlled, accurate, quantitative experimentation into the botanical sciences, and is regarded as the founder of modern plant physiology. His seminal monograph Experimental-Physiologie der Pflanzen (Experimental Physiology of Plants) was published 150 y ago (1865), when Sachs was employed as a lecturer at the Agricultural Academy in Poppelsdorf/Bonn (now part of the University). This book marks the beginning of a new era of basic and applied plant science. In this contribution, I summarize the achievements of Sachs and outline his lasting legacy. In addition, I show that Sachs was one of the first biologists who integrated bacteria, which he considered to be descendants of fungi, into the botanical sciences and discussed their interaction with land plants (degradation of wood etc.). This "plant-microbe-view" of green organisms was extended and elaborated by the laboratory botanist Wilhelm Pfeffer (1845-1920), so that the term "Sachs-Pfeffer-Principle of Experimental Plant Research" appears to be appropriate to characterize this novel way of performing scientific studies on green, photoautotrophic organisms (embryophytes, algae, cyanobacteria).

  2. Art and science interactions - First Collide @CERN public lecture by Julius Von Bismarck

    CERN Multimedia

    CERN. Geneva

    2012-01-01

    Creative collisions between the arts and science have begun at CERN with the first Collide@CERN artist, Julius Von Bismarck starting his digital arts residency at the world's largest particle physics laboratory outside Geneva. He was chosen from 395 entries from 40 countries around the world from the Prix Ars Electronica Collide@CERN competition launched last September 2011. To mark this special occasion, the first Collide@CERN public lecture open to everyone will take place on March 21st 2012 at CERN's Globe of Science and Innovation, with a drinks reception at 18.45 and with presentations starting at 19.30. The event is free and will be opened by the Director General of CERN, Professor Rolf-Dieter Heuer and Gerfried Stocker, the Artistic Director of Ars Electronica, Linz, - CERN's international cultural partners for the digital arts Collide@CERN award known as Prix Ars Electronica Collide@CERN in recognition of our joint partnership. Julius Von Bismarck and his CERN science inspiration partner, the physic...

  3. Light and collisions: Julius von Bismark presents an update on his work after his CERN Residency

    CERN Multimedia

    2012-01-01

    On 27 June 2012, Julius von Bismarck, the first winner of the Prix Ars Electronica Collide@CERN, will give a special informal interim lecture for CERN on his ideas and work in progress.   Julius will disclose his personal reactions to his experiences at CERN, sharing with us how particle physics and the laboratory has started having an impact on his artistic practice. As he said when he won the prize at the first Collide@CERN public lecture: “For me, the Collide@CERN residency is a dream come true.” So has reality matched up with his dreams? And why in the first two weeks did he say: “For me already the residency is already a success.” What is his experience of the creative collisions between arts and science? There will be opportunities for the audience to ask questions, and the artist stresses that this will be a personal and informal presentation of ideas in progress. The lecture will take place in the Council Chamber (Room 503-1-001) from 4.3...

  4. Julius von Schlosser on Vasari: a translation from Die Kunstliteratur (1924

    Directory of Open Access Journals (Sweden)

    Karl Johns

    2010-06-01

    Full Text Available Although Julius Schlosser is well known by name and as a source for bibliographical references, very few art historians are familiar with the substance of his forty year teaching career which inspired the likes of Kris, Kurz, Bodonyi, Gombrich and many others. Die Kunstliteratur of 1924 became his fifth and final such handbook, and was published with the intention to elucidate the pre-history of the history of art as an academic discipline. It is natural that Giorgio Vasari has a place at the core of such a story. However, Schlosser possessed an unrivalled knowledge of the relevant written and theoretical sources, and his unusually consistent approach found Lorenzo Ghiberti to be the actual founder of the subject and Winckelmann to have finally overcome the relatively pernicious influence of Vasari. This chapter from the centre of his book therefore still today remains the best critical account of Vasari’s writings from a broader point of view.

  5. Goethe: A bipolar personality? Periodicity of affective states in Johann Wolfgang von Goethe as reflected by Paul Julius Möbius.

    Science.gov (United States)

    Steinberg, Holger; Schönknecht, Peter

    2018-01-01

    This paper aims to investigate the character and etiological basis of German poet Johann Wolfgang von Goethe's mental disorder. From 1898, German neuropsychiatrist Paul Julius Möbius developed the hypothesis that Goethe's work provided several hints for the notion that the German poet suffered from a distinct bipolar disorder. The paper investigates Möbius's psychopathographic study on Goethe and his hypothesis of a mood periodicity in Goethe against the mirror of modern concepts. Möbius came to the conclusion that Goethe's illness was bipolar in character and became visible at intervals of seven years and lasted for about two years. The majority of Möbius's contemporary psychiatric colleagues (Emil Kraepelin, Max Isserlin, Ernst Kretschmer, Josef Breuer) supported this view which has still not been convincingly challenged. In present-day terms, Möbius's hypothesis can be best mirrored as a subclinical foundation of mood disorder. Furthermore, with his extensive study, Möbius disproved the common notion that Goethe had suffered from an illness as the result of a syphilitic infection.

  6. Tay-Sachs - resources

    Science.gov (United States)

    The following organizations provide information on Tay-Sachs disease : US National Library of Medicine -- ghr.nlm.nih.gov/condition/tay-sachs-disease March of Dimes -- www.marchofdimes.org/complications/tay-sachs- ...

  7. Tay-Sachs Disease

    Science.gov (United States)

    Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too ... cells, causing mental and physical problems. . Infants with Tay-Sachs disease appear to develop normally for the first few ...

  8. Julius Petersen 1839-1910. A Biography

    DEFF Research Database (Denmark)

    Lützen, Jesper; Sabidussi, Gert; Toft, Bjarne

    1992-01-01

    A biography of the Danish mathematician Julius Petersen and an analysis of his contributions to the development of mathematics.......A biography of the Danish mathematician Julius Petersen and an analysis of his contributions to the development of mathematics....

  9. SAChES: Scalable Adaptive Chain-Ensemble Sampling.

    Energy Technology Data Exchange (ETDEWEB)

    Swiler, Laura Painton [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Ray, Jaideep [Sandia National Lab. (SNL-CA), Livermore, CA (United States); Ebeida, Mohamed Salah [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Huang, Maoyi [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Hou, Zhangshuan [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Bao, Jie [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Ren, Huiying [Pacific Northwest National Lab. (PNNL), Richland, WA (United States)

    2017-08-01

    We present the development of a parallel Markov Chain Monte Carlo (MCMC) method called SAChES, Scalable Adaptive Chain-Ensemble Sampling. This capability is targed to Bayesian calibration of com- putationally expensive simulation models. SAChES involves a hybrid of two methods: Differential Evo- lution Monte Carlo followed by Adaptive Metropolis. Both methods involve parallel chains. Differential evolution allows one to explore high-dimensional parameter spaces using loosely coupled (i.e., largely asynchronous) chains. Loose coupling allows the use of large chain ensembles, with far more chains than the number of parameters to explore. This reduces per-chain sampling burden, enables high-dimensional inversions and the use of computationally expensive forward models. The large number of chains can also ameliorate the impact of silent-errors, which may affect only a few chains. The chain ensemble can also be sampled to provide an initial condition when an aberrant chain is re-spawned. Adaptive Metropolis takes the best points from the differential evolution and efficiently hones in on the poste- rior density. The multitude of chains in SAChES is leveraged to (1) enable efficient exploration of the parameter space; and (2) ensure robustness to silent errors which may be unavoidable in extreme-scale computational platforms of the future. This report outlines SAChES, describes four papers that are the result of the project, and discusses some additional results.

  10. Perception Operation in Shakespeare's Julius Caesar

    Directory of Open Access Journals (Sweden)

    Fehmi TURGUT

    2015-12-01

    Full Text Available Perception Operation in Shakespeare's Julius Caesar Abstract Contemporary Shakespeare studies have gained a new perspective and created an unprecedented synergy in dramatic criticism with the introduction of Cultural Materialism and New Historicism as critical theories.  Within the contexts set by New Historicism and Cultural Materialism, Shakespeare's plays, through polyphonic discourses and dialogues, create environments constructed in the relationships of his characters with one another and with the society on the basis of political and ideological considerations. In Shakespeare's theatrical environments, his characters play their political and ideological roles in a way similar to what happens in the real world politics. In such political and ideological environments, analysing polyphonic discourses and dialogues, critical readers can come up with some political and ideological concepts to analyse and explain the ways things happen and the reasons for why they happen. This study argues that one of these concepts is perception operation/management which Shakespeare uses in Julius Caesar as a means of political and ideological propaganda in the same way as is used in the contemporary real world, which creates a close association between the play's original context and contemporary political context through contemporary interpretations. Hence, this study deals with the role of perception operation/management in Brutus' manipulating attempts at political resistance to Julius Caesar's ruling, which paved the way for Caesar's assassination.

  11. Kunstnik ja tema kodu : Carl Timoleon von Neff Piira ja Muuga mõisas / Ants Hein

    Index Scriptorium Estoniae

    Hein, Ants, 1952-

    2004-01-01

    Ateljeedest Euroopas alates 15. sajandist ja Eestis alates 19. sajandist. Pikemalt Julius Kleveri ja Otto Moelleri ateljeest. Maalikunstnik Carl Timoleon von Neffi elust ja loomingust, kunsti kollektsioneerimisest. Piira ja Muuga mõisahoonest, plaanid, sise- ja välisvaated

  12. Prenatal Diagnosis Of Tay-Sachs Disease

    Directory of Open Access Journals (Sweden)

    Özgür Özyüncü

    2010-04-01

    CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease.

  13. Gaudeamus. Het leven van Julius Röntgen (1855-1932). Componist en musicus

    NARCIS (Netherlands)

    Vis, G.N.M.

    2007-01-01

    Gaudeamus Het leven van Julius Röntgen (1855-1932) Componist en musicus Jurjen Vis shows in his thesis Gaudeamus. The life of Julius Röntgen (1855-1932) that already as a young child Julius Röntgen was a remarkable pianist and composer. He was hailed at that time as a second Mendelssohn. In 1874

  14. Enfermedad de Tay-Sachs

    Directory of Open Access Journals (Sweden)

    Albia Josefina Pozo Alonso

    Full Text Available La enfermedad de Tay-Sachs es un trastorno neurodegenerativo progresivo de herencia autosómica recesiva. Se debe a la deficiencia de la enzima β-hexosaminidasa A, que provoca una acumulación de gangliósidos GM2 en los lisosomas. Se incluye dentro de las esfingolipidosis. De las esfingolipidosis que presentan mancha rojo cereza en la mácula, la enfermedad de Tay-Sachs es la única en la que no se evidencia hepatoesplenomegalia. La variante más frecuente se inicia en la lactancia. Se presenta un lactante del sexo masculino al que se le realizó el diagnóstico de esta entidad a los 8 meses de edad. A partir de los 4 meses comenzó a presentar una reacción de sobresalto. A los 6 meses comenzó a perder habilidades previamente adquiridas y crisis epilépticas mioclónicas. Se constató una disminución de la actividad específica de la enzima hexosaminidasa A en leucocitos.

  15. Doctor Julius Robert Mayer and Energy Processes in Living Systems

    Science.gov (United States)

    Erlichson, Herman

    2007-01-01

    The overwhelming majority of important papers in physics are written by physicists. But the physician Julius Robert Mayer (1814-1878, see photo) did a valid theoretical calculation of the mechanical equivalent of heat just before Joule reported on his results from his well-known paddle-wheel experiments. Joule is well-known to physics people and…

  16. JULIUS CAESAR. PLUTARCH'S LIVES. AUTOBIOGRAPHY. LITERATURE CURRICULUM IV, TEACHER VERSION.

    Science.gov (United States)

    KITZHABER, ALBERT R.

    THIS 10TH-GRADE ENGLISH CURRICULUM GUIDE WAS PREPARED TO ASSIST TEACHERS IN THE PRESENTATION OF AN ENRICHED READING AND STUDY PROGRAM OF SHAKESPEARE'S "JULIUS CAESAR," GIVING SOME ATTENTION TO PLUTARCH'S BIOGRAPHIES OF CAESAR, BRUTUS, AND MARK ANTONY WHICH BEAR DIRECTLY ON SHAKESPEARE'S PLAY. AN INSTRUCTIONAL UNIT ON…

  17. JULIUS CAESAR. PLUTARCH'S LIVES. AUTOBIOGRAPHY. LITERATURE CURRICULUM IV, STUDENT VERSION.

    Science.gov (United States)

    KITZHABER, ALBERT R.

    THIS 10TH-GRADE STUDENT GUIDE POSED SOME QUESTIONS AND CLARIFIED OTHERS ON SHAKESPEARE'S "JULIUS CAESAR," AND PRESENTED SHORT SELECTIONS FROM PLUTARCH'S "LIVES" (ON CAESAR, BRUTUS, AND MARK ANTONY) WITH ACCOMPANYING DISCUSSION QUESTIONS. A UNIT OF AUTOBIOGRAPHICAL READINGS OF EARLY LIFE EXPERIENCES WAS ALSO OUTLINED. BY…

  18. Julius Hallervorden's wartime activities: implications for science under dictatorship.

    Science.gov (United States)

    Shevell, M I; Peiffer, J

    2001-08-01

    The eponym Hallervorden-Spatz syndrome recalls Julius Hallervorden's and Hugo Spatz's original description of this pediatric neurodegenerative disorder. Julius Hallervorden's important contribution to the practice of neuropathology over a long career cannot be underestimated. However, his work as a pathologist during the Third Reich put him in close proximity with the implementation of biologic solutions (i.e., euthanasia) targeting those individuals with significant intellectual or physical disabilities in chronic-care facilities. The Nazi program of active euthanasia provided a scientific opportunity to gain quick access to pathologic materials. This opportunity was recognized and used by Hallervorden to achieve personal scientific objectives and research efforts. These efforts resulted in a number of postwar scientific publications using materials obtained through the euthanasia program. The participation of distinguished academic physicians in such a program provides a cautionary tale of the potential results of ethical compromise and the effects of the abrogation of personal autonomy in the setting of a totalitarian dictatorship.

  19. The tragedy of Julius Caesar: power, ideal and treason

    Directory of Open Access Journals (Sweden)

    Luís Roberto Barroso

    2018-01-01

    Full Text Available This paper briefly revisits the plot of William Shakespeare’s play The Tragedy of Julius Caesar and seeks to reflect on power and human behavior at the dusk of the Roman Republic. The play, in fact, portrays the tragedy of Brutus, who, moved by idealism and the impetus to protect the Republic, betrayed Caesar and participated in the conspiracy to kill him. The article ends with considerations about love, ideal and treason.

  20. Ethical Issues with Genetic Testing for Tay-Sachs.

    Science.gov (United States)

    Clayton, Tricia

    Several genetic disorders are specific to Jewish heritage; one of the most devastating is Tay-Sachs disease.Tay-Sachs is a fatal hereditary disease, causing progressive neurological problems for which there is no cure. Ethical issues surrounding genetic testing for Tay-Sachs within the Jewish community continue to be complex and multifaceted. A perspective of Tay-Sachs, using rights-based ethics and virtue ethics as a theoretical framework, is explored.

  1. Shakespeare's "Julius Caesar": The Initial Classroom Presentation. An Introduction to Theatre, Volume 2. Revised Edition.

    Science.gov (United States)

    Hoetker, James; Englesman, Alan

    A set of lessons to introduce "Julius Caesar" to secondary school students unfamiliar with Shakespeare is provided in this teaching guide. Only a critical fraction of the play is covered in the lessons. First, a synopsis of a modern high school situation whose conflicts parallel those in "Julius Caesar" is presented; then,…

  2. Understanding Shakespeare's "Julius Caesar" Online: A Student Casebook to Issues, Sources, and Historical Documents.

    Science.gov (United States)

    Derrick, Thomas

    This casebook of materials about William Shakespeare's "Julius Caesar" will enrich students' understanding of the historical context of the play and encourage interpretations of its cultural meaning. Shakespeare's "Julius Caesar" reflects perennial cultural concerns about order and freedom, particularly as they clash in the…

  3. Tay-Sachs and Sandhoff Diseases

    Science.gov (United States)

    ... more common in these groups: Creole of northern Argentina Metis Indians in Saskatchewan, Canada Lebanese If you or your partner is part of these ethnic groups, or you have a family history of Tay-Sachs disease or Sandhoff disease, tell ...

  4. Legionum Urbs and the British Martyrs Aaron and Julius

    Directory of Open Access Journals (Sweden)

    Andrew Breeze

    2016-07-01

    Full Text Available The article focuses on the localization of the martyrdom of the British saints Aaron and Julius, known of solely from Gildas, writing in the early 530s. His remarks were taken up by Bede (d. 737, so that the two saints have never been forgotten, their cult surviving to this day. The author provides a detailed survey of discussion of Aaron and Julius over the centuries, and argues that their martyrdom was neither at Caerleon (in south-east Wales nor Chester (in north-west England, as suggested by numerous scholars, but at Leicester, another major city of Roman Britain. Working from epigraphic sources and taking into account ancient models of naming, the author attempts a reinterpretation of Legionum urbs in the original texts by emending it to Legorum urbs “city of the Legores,” the Celtic people of the Leicester region. The latter, by the time of Gildas, was occupied by the Angles, while the city itself was abandoned, which may explain Gildas’s remarks, otherwise unclear if one identifies Legionum urbs with Caerleon or Chester. The author adduces both historical and linguistic arguments for his proposal and shows that it sheds new light on the history of early British Christianity.

  5. Tay Sachs disease: an autopsy case report.

    Science.gov (United States)

    Jadhav, Meenal Vitthal; Landge, Meenal P; Sawaimoon, Satyakam K; Harke, Arun B; Deshmukh, Sanjay D

    2005-10-01

    This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons.

  6. The National Tay Sachs and Allied Diseases Association.

    Science.gov (United States)

    Zeitlin, Paula

    1986-01-01

    The National Tay-Sachs and Allied Diseases Association is involved in education, research, and prevention of Tay-Sachs, an inherited metabolic disorder which destroys the central nervous system, and over 30 related disorders. The group features a parent peer group network and a support group for carrier couples. (CL)

  7. National Tay-Sachs and Allied Diseases Association, Inc.

    Science.gov (United States)

    Exceptional Parent, 1977

    1977-01-01

    Reviewed are the history and organization, purpose and programs, and public services of the National Tay-Sachs and Allied Diseases Association, an organization geared toward eradicating Tay-Sachs disease (a hereditary disorder affecting primarily Jewish infants which generally leads to deterioration and death by the child's fifth year). (SBH)

  8. The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue

    Science.gov (United States)

    Tallman, John F.; Johnson, William G.; Brady, Roscoe O.

    1972-01-01

    The catabolism of Tay-Sachs ganglioside, N-acetylgalactosaminyl- (N-acetylneuraminosyl) -galactosylglucosylceramide, has been studied in lysosomal preparations from normal human brain and brain obtained at biopsy from Tay-Sachs patients. Utilizing Tay-Sachs ganglioside labeled with 14C in the N-acetylgalactosaminyl portion or 3H in the N-acetylneuraminosyl portion, the catabolism of Tay-Sachs ganglioside may be initiated by either the removal of the molecule of N-acetylgalactosamine or N-acetylneuraminic acid. The activity of the N-acetylgalactosamine-cleaving enzyme (hexosaminidase) is drastically diminished in such preparations from Tay-Sachs brain whereas the activity of the N-acetylneuraminic acid-cleaving enzyme (neuraminidase) is at a normal level. Total hexosaminidase activity as measured with an artificial fluorogenic substrate is increased in tissues obtained from patients with the B variant form of Tay-Sachs disease and it is virtually absent in the O-variant patients. The addition of purified neuraminidase and various purified hexosaminidases exerted only a minimal synergistic effect on the hydrolysis of Tay-Sachs ganglioside in the lysosomal preparations from the control or patient with the O variant of Tay-Sachs disease. Images PMID:4639018

  9. Julius – a template based supplementary electronic health record system

    Directory of Open Access Journals (Sweden)

    Klein Gunnar O

    2007-05-01

    Full Text Available Abstract Background EHR systems are widely used in hospitals and primary care centres but it is usually difficult to share information and to collect patient data for clinical research. This is partly due to the different proprietary information models and inconsistent data quality. Our objective was to provide a more flexible solution enabling the clinicians to define which data to be recorded and shared for both routine documentation and clinical studies. The data should be possible to reuse through a common set of variable definitions providing a consistent nomenclature and validation of data. Another objective was that the templates used for the data entry and presentation should be possible to use in combination with the existing EHR systems. Methods We have designed and developed a template based system (called Julius that was integrated with existing EHR systems. The system is driven by the medical domain knowledge defined by clinicians in the form of templates and variable definitions stored in a common data repository. The system architecture consists of three layers. The presentation layer is purely web-based, which facilitates integration with existing EHR products. The domain layer consists of the template design system, a variable/clinical concept definition system, the transformation and validation logic all implemented in Java. The data source layer utilizes an object relational mapping tool and a relational database. Results The Julius system has been implemented, tested and deployed to three health care units in Stockholm, Sweden. The initial responses from the pilot users were positive. The template system facilitates patient data collection in many ways. The experience of using the template system suggests that enabling the clinicians to be in control of the system, is a good way to add supplementary functionality to the present EHR systems. Conclusion The approach of the template system in combination with various local EHR

  10. Survey on serum acetylecholinesterase (SAChE activity in selected farming communities at risk of organophosphate exposure, Southern Ghana

    Directory of Open Access Journals (Sweden)

    Ato Kwamena Tetteh

    2017-12-01

    Material and Methods ― The study was cross-sectional, involving 963 participants who consented to being screened for serum acetylcholinesterase (SAChE activity, using the dry chemistry test strips. The SAChE activity was then categorized into normal, low or high risk of developing symptoms associated with OP poisoning. Results ― The total group included 54.5% females and 45.5% males. Majority were crop farmers (46.3% and students/pupils (30.8%. The remaining 22.9% consisted mainly of traders, teachers, fishermen/fish processors, drivers and dressmakers. Very low SAChE activity unit of 30 U/ml. By this, a significant majority had either low or high risk of developing OP poisoning (χ2=4.43, 95%CI: 4.12–4.65, p=0.014 compared with those with normal activity. Most of the participants were in the 10–19 years age group of which 15.6% were in the high risk category, while 13.6% had low risk of OP poisoning. Reduced SAChE activity was predominant among all age groups compared with those with normal activity of the enzyme. As well, 27.3% who were females had reduced SAChE activity rate <30 U/ml (high risk of OP poisoning. Similarly, 23.4% of males were also at high risk of OP poisoning. There was however no statistical significance between the sex with regards to the numbers at risk of OP poisoning (χ2=4.80, 95% CI: 4.25–4.75, p=0.160. Conclusion ― This study provides some evidence of exposure, deduced from reduced SAChE activity, which potentially puts participants at a high risk of developing symptoms associated with OP poisoning. A follow-up study might be able to suggest to physicians in Ghana considering diagnostics of OP poisoning, especially for clients from farming communities where pesticides are used extensively.

  11. Tay Sachs and Related Storage Diseases: Family Planning

    Science.gov (United States)

    Schneiderman, Gerald; And Others

    1978-01-01

    Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

  12. Karl Julius Lohnert - an unknown astronomer, experimental psychologist and teacher (German Title: Karl Julius Lohnert - ein unbekannter Astronom, experimenteller Psychologe und Lehrer)

    Science.gov (United States)

    Schmadel, Lutz D.; Guski-Leinwand, Susanne

    2011-08-01

    Karl Julius Lohnert (1885-1944) with his double biography as astronomer and psychologist is hardly known in both fields. As a student of astronomy in Heidelberg, Lohnert discovered a couple of minor planets and he dedicated one to his PhD supervisor, the famous Leipzig professor for philosophy, Wilhelm Wundt. This connection is discussed for the first time almost one century after the naming of (635) Vundtia. The paper elucidates some biographical stations of Lohnert.

  13. Julius Nyerere: The Intellectual Pan-Africanist and the Question of ...

    African Journals Online (AJOL)

    The question of African unity has dominated political and intellectual discourse for quite a while, yet the approach, mechanism and substance seem to be ever elusive. The rhetoric has raised so much dust it has blinded political leaders as to the concrete measures that need to be undertaken. To Julius Nyerere, the quest for ...

  14. Late-onset Tay-Sachs disease.

    Science.gov (United States)

    Barritt, Andrew W; Anderson, Stuart J; Leigh, P Nigel; Ridha, Basil H

    2017-10-01

    We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical deficits in attention, processing speed and memory. We suspected a form of GM 2 gangliosidosis, and white cell enzyme analysis showed markedly reduced enzymatic activity of β-hexosaminidase A. Genetic testing subsequently revealed two heterozygous pathogenic mutations in the HEXA gene (c.1499delT p.(Leu500fs) and c.805G>A p.(Gly269Ser)), confirming the very rare diagnosis of adult-onset Tay-Sachs disease. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  15. Thermische Verletzungen im Kindesalter: Eine retrospektive Kohortenstudie von 212 Fällen

    OpenAIRE

    Sperling, Patrik Leonhart

    2012-01-01

    Anhand einer retrospektiven Datenanalyse sollen Verteilungsmuster von Verbrennungen und Verbrühungen bezogen auf Alter und Geschlecht untersucht werden. Erfasst wurden 212 Patienten im Alter von 0 bis 16 Jahren betrachtet, die im Zeitraum vom 01.01.2004 bis zum 31.12.2009 auf Grund einer thermischen Verletzung stationär im Universitätsklinikum Würzburg der Julius-Maximilians-Universität Würzburg behandelt wurden. Den größten Anteil thermischer Verletzungen im Kindesalter stellen Verbrühungen ...

  16. Energy in the Kantowski–Sachs space-time using teleparallel ...

    Indian Academy of Sciences (India)

    Energy in the Kantowski–Sachs space-time using teleparallel geometry ... Kantowski–Sachs metric; teleparallelism; gravitational energy. Abstract. The purpose of this paper is to examine the energy content of the inflationary Universe described by Kantowski–Sachs space-time in quasilocal approach of teleparallel gravity ...

  17. A critique of Jeffrey D. Sachs's The end of poverty.

    Science.gov (United States)

    Henwood, Doug

    2006-01-01

    Jeffrey Sachs's The End of Poverty is a manifesto and how-to guide on ending extreme poverty around the world; it promotes the U.N. Millennium Development Goals. Sachs achieved fame with his policy package for the "stabilization" of Bolivia (which did nothing to relieve Bolivia's poverty), and became advisor to the Yeltsin government in Russia and to Poland, Slovenia, and Estonia as they began their transitions to capitalism (the last three mixed successes; Russia a thorough disaster). Sachs later became more prominent as a critic of development orthodoxy, and was economic advisor to the Jubilee 2000 movement. The End of Poverty is full of sharp critiques of Western imperialism, but his views on the rest of the development business are more conventional.

  18. Tay-Sachs disease in Jacob sheep.

    Science.gov (United States)

    Torres, Paola A; Zeng, Bai Jin; Porter, Brian F; Alroy, Joseph; Horak, Fred; Horak, Joan; Kolodny, Edwin H

    2010-12-01

    Autopsy studies of four Jacob sheep dying within their first 6-8 months of a progressive neurodegenerative disorder suggested the presence of a neuronal storage disease. Lysosomal enzyme studies of brain and liver from an affected animal revealed diminished activity of hexosaminidase A (Hex A) measured with an artificial substrate specific for this component of β-hexosaminidase. Absence of Hex A activity was confirmed by cellulose acetate electrophoresis. Brain lipid analyses demonstrated the presence of increased concentrations of G(M2)-ganglioside and asialo-G(M2)-ganglioside. The hexa cDNA of Jacob sheep was cloned and sequenced revealing an identical number of nucleotides and exons as in human HexA and 86% homology in nucleotide sequence. A missense mutation was found in the hexa cDNA of the affected sheep caused by a single nucleotide change at the end of exon 11 resulting in skipping of exon 11. Transfection of normal sheep hexa cDNA into COS1 cells and human Hex A-deficient cells led to expression of Hex S but no increase in Hex A indicating absence of cross-species dimerization of sheep Hex α-subunit with human Hex β-subunits. Using restriction site analysis, the heterozygote frequency of this mutation in Jacob sheep was determined in three geographically separate flocks to average 14%. This large naturally occurring animal model of Tay-Sachs disease is the first to offer promise as a means for trials of gene therapy applicable to human infants. Copyright © 2010 Elsevier Inc. All rights reserved.

  19. Pflege – eine Sache der ganzen Familie

    Directory of Open Access Journals (Sweden)

    Nicole Maly-Lukas

    2005-07-01

    Full Text Available Derzeit sind in der Bundesrepublik Deutschland ca. 2 Millionen Menschen pflegebedürftig. Etwa 1,4 Millionen werden im häuslichen Bereich – in der Regel von Familienmitgliedern gepflegt – z. T. mit professioneller Unterstützung. Die Familie ist also weiterhin „der größte Pflegedienst der Nation“. Und es sind hauptsächlich die Frauen, die sich für die Pflege von Familienmitgliedern verantwortlich fühlen. Gröning et al. möchten sich in ihrem Buch In guten wie in schlechten Tagen aber nicht auf die Belastungen der pflegenden Frauen beschränken. Sie stellen die Generationen- und Geschlechterbeziehungen, die einen großen Einfluss auf die familiäre Pflegebeziehung haben, in den Vordergrund. In dem Buch Pflegegeschichten kommen rund 40 pflegende Angehörige selbst zu Wort, indem sie ‚ihre‘ persönliche „Pflegegeschichte“ erzählen.

  20. Julius Thomsen and 19th-century speculations on the complexity of atoms

    DEFF Research Database (Denmark)

    Kragh, Helge

    1982-01-01

    In the history of chemistry, the Danish chemist Julius Thomsen (1826-1909) is best known for his contributions to thermochemistry. Throughout his life, he was a pronounced atomist and a tireless advocate of neo-Proutian views as to the constitution of matter. On many occasions, especially in his ...... as to the constitution of matter, the periodic system and the noble gases, may be seen as typical of this vigorous trend in fin de si cle chemistry....

  1. Planck 2015 results: XXI. The integrated Sachs-Wolfe effect

    DEFF Research Database (Denmark)

    Ade, P. A R; Aghanim, N.; Arnaud, M.

    2016-01-01

    This paper presents a study of the integrated Sachs-Wolfe (ISW) effect from the Planck 2015 temperature and polarization data release. This secondary cosmic microwave background (CMB) anisotropy caused by the large-scale time-evolving gravitational potential is probed from different perspectives....

  2. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.

    Science.gov (United States)

    Guetta, Esther; Peleg, Leah

    2008-01-01

    Tay-Sachs disease is an autosomal recessive storage disease caused by the impaired activity of the lysosomal enzyme hexosaminidase A. In this fatal disease, the sphingolipid GM2 ganglioside accumulates in the neurons. Due to high carrier rates and the severity of the disease, population screening and prenatal diagnosis of Tay-Sachs disease are routinely carried out in Israel. Laboratory diagnosis of Tay-Sachs is carried out with biochemical and DNA-based methods in peripheral and umbilical cord blood, amniotic fluid, and chorionic villi samples. The assay of hexosaminidase A (Hex A) activity is carried out with synthetic substrates, 4-methylumbelliferyl-6-sulfo-N-acetyl-beta-glucosaminide (4-MUGS) and 4-methylumbelliferil-N-acetyl-beta-glucosamine (4-MUG), and the DNA-based analysis involves testing for the presence of specific known mutations in the alpha-subunit gene of Hex A. Prenatal diagnosis of Tay-Sachs disease is accomplished within 24-48 h from sampling. The preferred strategy is to simultaneously carry out enzymatic analysis in the amniotic fluid supernatant or in chorionic villi and molecular DNA-based testing in an amniotic fluid cell-pellet or in chorionic villi.

  3. Choroidal Coloboma in a Case of Tay-Sachs Disease

    OpenAIRE

    Ahmed, Nasreen Raees; Tripathy, Koushik; Kumar, Vivek; Gogia, Varun

    2014-01-01

    Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

  4. Choroidal coloboma in a case of tay-sachs disease.

    Science.gov (United States)

    Ahmed, Nasreen Raees; Tripathy, Koushik; Kumar, Vivek; Gogia, Varun

    2014-01-01

    Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

  5. Distribution of a pseudodeficiency allele among Tay-Sachs carriers

    Energy Technology Data Exchange (ETDEWEB)

    Tomczak, J.; Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Boogen, C. (Univ. of Essen Medical School (Germany))

    1993-08-01

    Recently Triggs-Raine et al. (1992) identified a new mutation in the gene coding for the [alpha]-subunit of [beta]-hexosaminidase A (hex A), the enzyme whose deficiency causes Tay-Sachs disease. This mutation, a C[sub 739]-to-T transition in exon 7, results in an altered enzyme that is active (albeit at reduced levels) in cells but that has essentially no activity in serum. This so-called pseudodeficient allele was first detected in compound heterozygotes who also carried a Tay-Sachs disease allele and therefore had no detectable hex A in their serum but who were in good health. Carriers of this apparently benign mutation are generally indistinguishable from carriers of a lethal mutation by means of routine enzyme-based screening tests, because the product of the pseudodeficient allele is not detectable in serum and has decreased activity in cells. This suggests that some individuals who have been classified as Tay-Sachs carriers are actually carriers of the pseudodeficient allele and are not at risk to have a child affected with Tay-Sachs disease. The pseudodeficient allele may also be responsible for some inconclusive diagnoses, where leukocyte values fall below the normal range but are still above the carrier range. The fact that there are now two mutant alleles (the psuedodeficient and the adult) that are indistinguishable from the lethal infantile mutations by means of enzyme assay yet that are phenotypically very different and that together may account for as much as 12% of enzyme-defined carriers on the basis of the data here suggests that DNA analysis should be part of a comprehensive screening program. It will be particularly useful to identify the mutations in couples at risk, before they undergo prenatal diagnosis. DNA analysis will also resolve some inconclusive diagnoses.

  6. Choroidal Coloboma in a Case of Tay-Sachs Disease

    Directory of Open Access Journals (Sweden)

    Nasreen Raees Ahmed

    2014-01-01

    Full Text Available Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

  7. The white matter of the human cerebrum: part I The occipital lobe by Heinrich Sachs.

    Science.gov (United States)

    Forkel, Stephanie J; Mahmood, Sajedha; Vergani, Francesco; Catani, Marco

    2015-01-01

    This is the first complete translation of Heinrich Sachs' outstanding white matter atlas dedicated to the occipital lobe. This work is accompanied by a prologue by Prof Carl Wernicke who for many years was Sachs' mentor in Breslau and enthusiastically supported his work. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  8. The white matter of the human cerebrum: Part I The occipital lobe by Heinrich Sachs

    Science.gov (United States)

    Forkel, Stephanie J.; Mahmood, Sajedha; Vergani, Francesco; Catani, Marco

    2015-01-01

    This is the first complete translation of Heinrich Sachs' outstanding white matter atlas dedicated to the occipital lobe. This work is accompanied by a prologue by Prof Carl Wernicke who for many years was Sachs' mentor in Breslau and enthusiastically supported his work. PMID:25527430

  9. An inducible mouse model of late onset Tay-Sachs disease.

    Science.gov (United States)

    Jeyakumar, Mylvaganam; Smith, David; Eliott-Smith, Elena; Cortina-Borja, Mario; Reinkensmeier, Gabriele; Butters, Terry D; Lemm, Thorsten; Sandhoff, Konrad; Perry, V Hugh; Dwek, Raymond A; Platt, Frances M

    2002-08-01

    Mouse models of the G(M2) gangliosidoses, Tay-Sachs and Sandhoff disease, are null for the hexosaminidase alpha and beta subunits respectively. The Sandhoff (Hexb-/-) mouse has severe neurological disease and mimics the human infantile onset variant. However, the Tay-Sachs (Hexa-/-) mouse model lacks an overt phenotype as mice can partially bypass the blocked catabolic pathway and escape disease. We have investigated whether a subset of Tay-Sachs mice develop late onset disease. We have found that approximately 65% of the mice develop one or more clinical signs of the disease within their natural life span (n = 52, P disease at an earlier age (n = 21, P Tay-Sachs mice confirmed that pregnancy induces late onset Tay-Sachs disease. Onset of symptoms correlated with reduced up-regulation of hexosaminidase B, a component of the bypass pathway.

  10. Kantowski--Sachs cosmological models as big-bang models

    International Nuclear Information System (INIS)

    Weber, E.

    1985-01-01

    In the presence of a nonzero cosmological constant Λ, we classify the anisotropic cosmological models of the Kantowski--Sachs type by means of the quantities epsilon 2 0 , q 0 , summation 0 corresponding, respectively, to the relative root-mean-square deviation from isotropy, the deceleration parameter, and the density parameter of the perfect fluid at a given time t = t 0 . We obtain for Λ>0 a set of big-bang models of zero measure as well as a set of cosmological models of nonzero measure evolving toward the de Sitter solution

  11. Rapid identification of HEXA mutations in Tay-Sachs patients.

    Science.gov (United States)

    Giraud, Carole; Dussau, Jeanne; Azouguene, Emilie; Feillet, François; Puech, Jean-Philippe; Caillaud, Catherine

    2010-02-19

    Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency. The purpose of this study was to characterize the molecular abnormalities in patients with infantile or later-onset forms of the disease. The complete sequencing of the 14 exons and flanking regions of the HEXA gene was performed with a unique technical condition in 10 unrelated TSD patients. Eleven mutations were identified, including five splice mutations, one insertion, two deletions and three single-base substitutions. Four mutations were novel: two splice mutations (IVS8+5G>A, IVS2+4delAGTA), one missense mutation in exon 6 (c.621T>G (p.D207E)) and one small deletion (c.1211-1212delTG) in exon 11 resulting in a premature stop codon at residue 429. The c.621T>G missense mutation was found in a patient presenting an infantile form. Its putative role in the pathogenesis of TSD is suspected as residue 207 is highly conserved in human, mouse and rat. Moreover, structural modelling predicted changes likely to affect substrate binding and catalytic activity of the enzyme. The time-saving procedure reported here could be useful for the characterization of Tay-Sachs-causing mutations, in particular in non-Ashkenazi patients mainly exhibiting rare mutations. Copyright (c) 2010 Elsevier Inc. All rights reserved.

  12. Tay-Sachs disease with conspicuous cranial computerized tomographic appearances

    International Nuclear Information System (INIS)

    Watanabe, Kishichiro; Mukawa, Akio; Muto, Kazuhiko; Nishikawa, Jiro; Takahashi, Shigeko.

    1985-01-01

    An autopsy case of a 3-year-old female infant with Tay-Sachs disease was presented. A cherry red spot in the fundus and a deficiency of N-acetyl-β-hexosaminidase A in the white blood cells were revealed soon after admission at the age of one year. Her parents and sister were found to be healthy carriers. The patient showed a typical clinical course with marked cranial swelling. In addition to the marked ballooning of neurons on light microscope, membranous cytoplasmic body (MCB) on electron microscope and abnormal accumulation of GM 2 ganglioside in the cerebral cortex by thin layer chromatography were confirmed in the autopsy specimens. In the late stage of her clinical course, the cranial computerized tomography (CT) demonstrated symmetric and deep-wavy hyperdense cerebral cortical zones, diffuse hypodensity and diminished volume of cerebral white matter, mild to moderate ventricular dilatation, and a small cerebellum and brainstem. These conspicuous appearances of the cranial CT seem to be characteristic of Tay-Sachs disease in the late stage, and they are derived from abnormal accumulation of GM 2 ganglioside in the cerebral cortex, and diffuse intense demyelination (dysmyelinating demyelination) of the cerebral white matter. (author)

  13. Gravitational, shear and matter waves in Kantowski-Sachs cosmologies

    Energy Technology Data Exchange (ETDEWEB)

    Keresztes, Zoltán; Gergely, László Á. [Department of Theoretical Physics, University of Szeged, Tisza Lajos krt 84-86, Szeged 6720 (Hungary); Forsberg, Mats; Bradley, Michael [Department of Physics, UmeåUniversity (Sweden); Dunsby, Peter K.S., E-mail: zkeresztes@titan.physx.u-szeged.hu, E-mail: forsberg.mats.a.b@gmail.com, E-mail: michael.bradley@physics.umu.se, E-mail: peter.dunsby@uct.ac.za, E-mail: gergely@physx.u-szeged.hu [Astrophysics, Cosmology and Gravity Centre (ACGC), University of Cape Town, Rondebosch 7701, Cape Town (South Africa)

    2015-11-01

    A general treatment of vorticity-free, perfect fluid perturbations of Kantowski-Sachs models with a positive cosmological constant are considered within the framework of the 1+1+2 covariant decomposition of spacetime. The dynamics is encompassed in six evolution equations for six harmonic coefficients, describing gravito-magnetic, kinematic and matter perturbations, while a set of algebraic expressions determine the rest of the variables. The six equations further decouple into a set of four equations sourced by the perfect fluid, representing forced oscillations and two uncoupled damped oscillator equations. The two gravitational degrees of freedom are represented by pairs of gravito-magnetic perturbations. In contrast with the Friedmann case one of them is coupled to the matter density perturbations, becoming decoupled only in the geometrical optics limit. In this approximation, the even and odd tensorial perturbations of the Weyl tensor evolve as gravitational waves on the anisotropic Kantowski-Sachs background, while the modes describing the shear and the matter density gradient are out of phase dephased by π /2 and share the same speed of sound.

  14. A Collection of Brain Sections of "Euthanasia" Victims: The Series H of Julius Hallervorden.

    Science.gov (United States)

    Wässle, Heinz

    2017-12-01

    Julius Hallervorden, a distinguished German neuropathologist, admitted on several occasions that he had received some five hundred brains of "euthanasia" victims from the Nazi killing centres for the insane. He investigated the brains in the summer of 1942; however, their traces were subsequently lost. The present study shows, that the Series H, which was part of the Hallervorden collection of brain sections in the Max Planck Institute for Brain Research, comprises the brain sections of the above mentioned five hundred euthanasia victims. The provenance of 105 patients could be reconstructed and 84 are for sure euthanasia victims. Most of them were killed in Bernburg or in Sonnenstein-Pirna. Hallervorden used the brain sections of Series H until 1956 for his studies and never publicly regretted this abuse of the brains of euthanasia victims. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Structural consequences of amino acid substitutions causing Tay-Sachs disease.

    Science.gov (United States)

    Ohno, Kazuki; Saito, Seiji; Sugawara, Kanako; Sakuraba, Hitoshi

    2008-08-01

    To determine the structural changes in the alpha-subunit of beta-hexosaminidase due to amino acid substitutions causing Tay-Sachs disease, we built structural models of mutant alpha-subunits resulting from 33 missense mutations (24 infantile and 9 late-onset), and analyzed the influence of each amino acid replacement on the structure by calculating the number of atoms affected and determining the solvent-accessible surface area of the corresponding amino acid residue in the wild-type alpha-subunit. In the infantile Tay-Sachs group, the number of atoms influenced by a mutation was generally larger than that in the late-onset Tay-Sachs group in both the main chain and the side chain, and residues associated with the mutations found in the infantile Tay-Sachs group tended to be less solvent-accessible than those in the late-onset Tay-Sachs group. Furthermore, color imaging determined the distribution and degree of the structural changes caused by representative amino acid substitutions, and that there were also differences between the infantile and late-onset Tay-Sachs disease groups. Structural study is useful for elucidating the basis of Tay-Sachs disease.

  16. 'Cherry red spot' in a patient with Tay-Sachs disease: case report.

    Science.gov (United States)

    Aragão, Ricardo Evangelista Marrocos de; Ramos, Régia Maria Gondim; Pereira, Felipe Bezerra Alves; Bezerra, Andreya Ferreira Rodrigues; Fernandes, Daniel Nogueira

    2009-01-01

    Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic.

  17. Kantowski-Sachs multidimensional cosmological models and dynamical dimensional reduction

    International Nuclear Information System (INIS)

    Demianski, M.; Rome Univ.; Golda, Z.A.; Heller, M.; Szydlowski, M.

    1988-01-01

    Einstein's field equations are solved for a multidimensional spacetime (KS) x Tsup(m), where (KS) is a four-dimensional Kantowski-Sachs spacetime and Tsup(m) is an m-dimensional torus. Among all possible vacuum solutions there is a large class of spacetimes in which the macroscopic space expands and the microscopic space contracts to a finite volume. We also consider a non-vacuum case and we explicitly solve the field equations for the matter satisfying the Zel'dovich equation of state. In non-vacuum models, with matter satisfying an equation of state p = γρ, O ≤ γ < 1, at a sufficiently late stage of evolution the microspace always expands and the dynamical dimensional reduction does not occur. (author)

  18. Atypical presentation of late-onset Tay-Sachs disease.

    Science.gov (United States)

    Deik, Andres; Saunders-Pullman, Rachel

    2014-05-01

    Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment. Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS. The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. Copyright © 2013 Wiley Periodicals, Inc.

  19. Tay-Sachs disease: current perspectives from Australia.

    Science.gov (United States)

    Lew, Raelia M; Burnett, Leslie; Proos, Anné L; Delatycki, Martin B

    2015-01-01

    Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-based TSD preconception genetic screening programs aim to screen, educate, and optimize reproductive choice for participants. These programs have demonstrated high uptake, low psychological morbidity, and have been shown to result in fewer than expected Jewish TSD-affected births over 18 years of operation. The majority of Jewish individuals of reproductive age outside of the high school screening program setting in Australia have not accessed screening. Recent recommendations advocate supplementing the community high school screening programs with general practitioner- and obstetrician-led genetic screening of Ashkenazi Jewish individuals for TSD and other severe recessive diseases for which this group is at risk. Massively parallel DNA sequencing is expected to become the testing modality of choice over the coming years.

  20. Tay-Sachs disease: current perspectives from Australia

    Directory of Open Access Journals (Sweden)

    Lew RM

    2015-01-01

    Full Text Available Raelia M Lew,1,7 Leslie Burnett,2,3,4 Anné L Proos,2 Martin B Delatycki5,6 1Department of Obstetrics and Gynecology, QEII Research Institute for Mothers and Infants, The University of Sydney, Australia; 2NSW Health Pathology North, Royal North Shore Hospital, St Leonards, Australia; 3SEALS, Prince of Wales Hospital, Randwick, Australia; 4Sydney Medical School-Northern, Royal North Shore Hospital E25, University of Sydney, Sydney, Australia; 5Department of Clinical Genetics, Austin Health, Heidelberg, Australia; 6Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Australia; 7Department of Obstetrics and Gynaecology, Dentistry and Health Sciences, Faculty of Medicine, The University of Melbourne, Melbourne, Australia Abstract: Tay-Sachs disease (TSD is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-based TSD preconception genetic screening programs aim to screen, educate, and optimize reproductive choice for participants. These programs have demonstrated high uptake, low psychological morbidity, and have been shown to result in fewer than expected Jewish TSD-affected births over 18 years of operation. The majority of Jewish individuals of reproductive age outside of the high school screening program setting in Australia have not accessed screening. Recent recommendations advocate supplementing the community high school screening programs with general practitioner- and obstetrician-led genetic screening of Ashkenazi Jewish individuals for TSD and other severe recessive diseases for which this group is at risk. Massively parallel DNA sequencing is expected to become the testing modality of choice over the coming years. Keywords: Tay-Sachs disease, genetic screening, Australia

  1. CMB anisotropies at all orders: the non-linear Sachs-Wolfe formula

    OpenAIRE

    Roldan, Omar

    2017-01-01

    We obtain the non-linear generalization of the Sachs-Wolfe + integrated Sachs-Wolfe (ISW) formula describing the CMB temperature anisotropies. Our formula is valid at all orders in perturbation theory, is also valid in all gauges and includes scalar, vector and tensor modes. A direct consequence of our results is that the maps of the logarithmic temperature anisotropies are much cleaner than the usual CMB maps, because they automatically remove many secondary anisotropies. This can for instan...

  2. Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.

    OpenAIRE

    Lane, A B; Young, E; Jenkins, T

    1980-01-01

    A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The individuals would not be detected as carriers of Tay-Sachs disease or Sandhoff disease in a population screening program.

  3. Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.

    Science.gov (United States)

    Lane, A B; Young, E; Jenkins, T

    1980-01-01

    A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The individuals would not be detected as carriers of Tay-Sachs disease or Sandhoff disease in a population screening program. PMID:7446530

  4. Tay-Sach disease with "cherry-red spot"--first reported case in Malaysia.

    Science.gov (United States)

    Chan, L Y; Balasubramaniam, S; Sunder, R; Jamalia, R; Karunakar, T V N; Alagaratnam, J

    2011-12-01

    We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.

  5. von Neumann Morgenstern Preferences

    DEFF Research Database (Denmark)

    Vind, Karl

    von Neumann Morgenstern utility is generalized to von Neumann Morgenstern preferences. The proof is an application of simple hyperplane theorems......von Neumann Morgenstern utility is generalized to von Neumann Morgenstern preferences. The proof is an application of simple hyperplane theorems...

  6. von Neumann Morgenstern Preferences

    DEFF Research Database (Denmark)

    Vind, Karl

    2000-01-01

    von Neumann Morgenstern utility is generalized to von Neumann Morgenstern preferences. The proof is an application of simple hyperplane theorems......von Neumann Morgenstern utility is generalized to von Neumann Morgenstern preferences. The proof is an application of simple hyperplane theorems...

  7. Dictator Perpetuus: Julius Caesar--did he have seizures? If so, what was the etiology?

    Science.gov (United States)

    Hughes, John R

    2004-10-01

    The "Dictator Perpetuus" of the Roman Empire, the great Julius Caesar, was not the one for whom the well-known cesarean operation was named; instead, this term is derived from a Latin word meaning "to cut." Caesar likely had epilepsy on the basis of four attacks that were probably complex partial seizures: (1) while listening to an oration by Cicero, (2) in the Senate while being offered the Emperor's Crown, and in military campaigns, (3) near Thapsus (North Africa) and (4) Corduba (Spain). Also, it is possible that he had absence attacks as a child and as a teenager. His son, Caesarion, by Queen Cleopatra, likely had seizures as a child, but the evidence is only suggestive. His great-great-great grandnephews Caligula and Britannicus also had seizures. The etiology of these seizures in this Julio-Claudian family was most likely through inheritance, with the possibility of sudden unexpected death in epilepsy (SUDEP) in his great grandfather and also his father. Our best evidence comes from the ancient sources of Suetonius, Plutarch, Pliny, and Appianus.

  8. From Julius Caesar to Sustainable Composite Materials: A Passage through Port Caisson Technology

    Directory of Open Access Journals (Sweden)

    Eduardo Cejuela

    2018-04-01

    Full Text Available The breakwater construction technique using floating concrete caissons is well-known nowadays as a widespread system. Yet do we really know its origin? Since Julius Caesar used this technology in Brindisi (Italy up to the Normandy landings in June 1944, not only has this technology been developed, but it has been a key item in several moments in history. Its development has almost always been driven by military requirements. The greatest changes have not been conceptual but point occurring, backed by the materials used. Parallelisms can be clearly seen in each new stage: timber, opus caementitium (Roman concrete, iron and concrete… However, nowadays, achieving a more sustainable world constitutes a major challenge, to which the construction of caissons breakwaters must contribute as a field of application of new eco-friendly materials. This research work provides a general overview from the origins of caissons until our time. It will make better known the changes that took place in the system and their adaptation to new materials, and will help in clarifying the future in developing technology towards composite sustainable materials and special concrete. If we understand the past, it will be easier to define the future.

  9. Julius König et les Principes Aristotéliciens

    Directory of Open Access Journals (Sweden)

    Marcel Guillaume

    2009-08-01

    Full Text Available In his posthumous book from 1914, “New foundations of logic, arithmetic andset theory”, Julius König develops his philosophy of mathematics. In a previous contribution, we attracted attention on the positive part (his truth and falsehood predicates being excluded of his “pure logic”: his “isology” being assimilated to mutual implication, it constitutes a genuine formalization of positive intuitionistic logic. König’s intention was to rebuild logic in such a way that the excluded third’s principle could no longer be logical. However, his treatment of truth and falsehood (boiling down to negation is purely classical. We explain here this discrepancy by the choice of the alleged more primitive notions to which the questioned notions of truth and falsehood have been reduced. Finaly, it turns out that the disjunctive and conjunctive forms of the principles of the excluded third and of contradiction have effectively been excluded, but none of their implicative forms.

  10. Kantowski-Sachs Einstein-æther perfect fluid models

    Energy Technology Data Exchange (ETDEWEB)

    Latta, Joey [Department of Mathematics and Statistics, Dalhousie University, Halifax, Nova Scotia, B3H 3J5 (Canada); Leon, Genly [Instituto de Física, Pontificia Universidad de Católica de Valparaíso, Casilla 4950, Valparaíso (Chile); Paliathanasis, Andronikos, E-mail: lattaj@mathstat.dal.ca, E-mail: genly.leon@pucv.cl, E-mail: anpaliat@phys.uoa.gr [Instituto de Ciencias Físicas y Matemáticas, Universidad Austral de Chile, Valdivia (Chile)

    2016-11-01

    We investigate Kantowski-Sachs models in Einstein-æ ther theory with a perfect fluid source using the singularity analysis to prove the integrability of the field equations and dynamical system tools to study the evolution. We find an inflationary source at early times, and an inflationary sink at late times, for a wide region in the parameter space. The results by A.A. Coley, G. Leon, P. Sandin and J. Latta ( JCAP 12 (2015) 010), are then re-obtained as particular cases. Additionally, we select other values for the non-GR parameters which are consistent with current constraints, getting a very rich phenomenology. In particular, we find solutions with infinite shear, zero curvature, and infinite matter energy density in comparison with the Hubble scalar. We also have stiff-like future attractors, anisotropic late-time attractors, or both, in some special cases. Such results are developed analytically, and then verified by numerics. Finally, the physical interpretation of the new critical points is discussed.

  11. Effective gene therapy in an authentic model of Tay-Sachs-related diseases.

    Science.gov (United States)

    Cachón-González, M Begoña; Wang, Susan Z; Lynch, Andrew; Ziegler, Robin; Cheng, Seng H; Cox, Timothy M

    2006-07-05

    Tay-Sachs disease is a prototypic neurodegenerative disease. Lysosomal storage of GM2 ganglioside in Tay-Sachs and the related disorder, Sandhoff disease, is caused by deficiency of beta-hexosaminidase A, a heterodimeric protein. Tay-Sachs-related diseases (GM2 gangliosidoses) are incurable, but gene therapy has the potential for widespread correction of the underlying lysosomal defect by means of the secretion-recapture cellular pathway for enzymatic complementation. Sandhoff mice, lacking the beta-subunit of hexosaminidase, manifest many signs of classical human Tay-Sachs disease and, with an acute course, die before 20 weeks of age. We treated Sandhoff mice by stereotaxic intracranial inoculation of recombinant adeno-associated viral vectors encoding the complementing human beta-hexosaminidase alpha and beta subunit genes and elements, including an HIV tat sequence, to enhance protein expression and distribution. Animals survived for >1 year with sustained, widespread, and abundant enzyme delivery in the nervous system. Onset of the disease was delayed with preservation of motor function; inflammation and GM2 ganglioside storage in the brain and spinal cord was reduced. Gene delivery of beta-hexosaminidase A by using adeno-associated viral vectors has realistic potential for treating the human Tay-Sachs-related diseases.

  12. [Tay-Sachs disease in non-Jewish infant in Israel].

    Science.gov (United States)

    Nadim, Nasser

    2012-01-01

    Tay-Sachs disease, also known as GM2 gangliosidosis or Hexosaminidase A deficiency is an autosomal recessive genetic fatal disorder. The disease is known to appear in East European Ashkenazi Jews, North African Jews, and Quebec French Canadians exclusively, but, with different frequency and type of mutation. Its most common variant is the infantile type Tay-Sachs disease. Juvenile and late-onset forms of the disease are infrequent and slowly progressive. At nearly 3 to 6 months old, a baby with Tay-Sachs progressively loses his motor skills and attentiveness. Startle responses and hyperreflexia become prominent, especially on eliciting deep patellar and Achilles reflexes, as a consequence of neurodegeneration of the upper motor neuron. Other systemic damage ensues gradually; seizures, blindness, spasticity of limbs, inability to swallow and breathe, and eventually the baby dies at 1-4 years of age. All Tay-Sachs patients have a "cherry red spot", easily seen in the macula area of the retina, using an ophthalmoscope. The "cherry red spot" is the only normal part of the retina in these sick babies. The case presented here emphasizes that Tay-Sachs disease is sometimes misdiagnosed at first visits even by an experienced clinician, because of his lack of awareness that this disease is not exclusively a Jewish disease.

  13. Julius Caesar Arantius (Giulio Cesare Aranzi, 1530-1589) and the hippocampus of the human brain: history behind the discovery.

    Science.gov (United States)

    Bir, Shyamal C; Ambekar, Sudheer; Kukreja, Sunil; Nanda, Anil

    2015-04-01

    Julius Caesar Arantius is one of the pioneer anatomists and surgeons of the 16th century who discovered the different anatomical structures of the human body. One of his prominent discoveries is the hippocampus. At that time, Arantius originated the term hippocampus, from the Greek word for seahorse (hippos ["horse"] and kampos ["sea monster"]). Arantius published his description of the hippocampus in 1587, in the first chapter of his work titled De Humano Foetu Liber. Numerous nomenclatures of this structure, including "white silkworm," "Ammon's horn," and "ram's horn" were proposed by different scholars at that time. However, the term hippocampus has become the most widely used in the literature.

  14. Proton MR spectroscopy in three children with Tay-Sachs disease.

    Science.gov (United States)

    Aydin, Kubilay; Bakir, Baris; Tatli, Burak; Terzibasioglu, Ege; Ozmen, Meral

    2005-11-01

    Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM(2) gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells. To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. Three children aged 10, 20 and 21 months were examined. On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio. The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease.

  15. Proton MR spectroscopy in three children with Tay-Sachs disease

    Energy Technology Data Exchange (ETDEWEB)

    Aydin, Kubilay; Bakir, Baris; Terzibasioglu, Ege [Istanbul University, Neuroradiology Division, Department of Radiology, Istanbul (Turkey); Tatli, Burak; Ozmen, Meral [Istanbul University, Department of Paediatric Neurology, Istanbul (Turkey)

    2005-11-01

    Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM{sub 2} gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells. To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. Three children aged 10, 20 and 21 months were examined. On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio. The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease. (orig.)

  16. Proton MR spectroscopy in three children with Tay-Sachs disease

    International Nuclear Information System (INIS)

    Aydin, Kubilay; Bakir, Baris; Terzibasioglu, Ege; Tatli, Burak; Ozmen, Meral

    2005-01-01

    Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM 2 gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells. To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. Three children aged 10, 20 and 21 months were examined. On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio. The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease. (orig.)

  17. Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.

    Science.gov (United States)

    Kodama, Takashi; Togawa, Tadayasu; Tsukimura, Takahiro; Kawashima, Ikuo; Matsuoka, Kazuhiko; Kitakaze, Keisuke; Tsuji, Daisuke; Itoh, Kohji; Ishida, Yo-Ichi; Suzuki, Minoru; Suzuki, Toshihiro; Sakuraba, Hitoshi

    2011-01-01

    To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex) B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-GM2 levels in the brain and plasma in Sandhoff mice were apparently increased compared with those in wild-type mice, and they decreased on intracerebroventricular administration of the modified Hex B. The lyso-GM2 levels in plasma of patients with Tay-Sachs disease and Sandhoff disease were increased, and the increase in lyso-GM2 was associated with a decrease in Hex A activity. Lyso-GM2 is expected to be a potential biomarker of Tay-Sachs disease and Sandhoff disease.

  18. [Sandhoff's and Tay-Sachs disease--based on our own cases].

    Science.gov (United States)

    Kokot, Witold; Raczyńska, Krystyna; Krajka-Lauer, Jarosława; Iwaszkiewicz-Bilikiewicz, Barbara; Wierzba, Jolanta

    2004-01-01

    The authors described two infant with Sandhoff's and Tay-Sachs disease. Tay-Sachs disease is well-known inherited disease leading to an accumulation of gangliosides in the brain and retina. Sandhoffs disease (GM2 gangliosidosis type 0) was diagnosed in an infant, in whom a progressive neurological disorder and cherry-red foveal spots were developed. In addition, to the general clinical examination, indirect ophthalnoscopy, blood white cells enzymatic examination are used to make definitive diagnosis. In this cases, the early eye fundus examination allowed us to make the proper diagnosis. The fundus change is characterized by the "cherry-red spot" in the central area.

  19. Planck 2015 results: XXI. The integrated Sachs-Wolfe effect

    International Nuclear Information System (INIS)

    Ade, P. A. R.; Aghanim, N.; Arnaud, M.; Ashdown, M.; Aumont, J.

    2016-01-01

    Here, this paper presents a study of the integrated Sachs-Wolfe (ISW) effect from the Planck 2015 temperature and polarization data release. This secondary cosmic microwave background (CMB) anisotropy caused by the large-scale time-evolving gravitational potential is probed from different perspectives. The CMB is cross-correlated with different large-scale structure (LSS) tracers: radio sources from the NVSS catalogue; galaxies from the optical SDSS and the infrared WISE surveys; and the Planck 2015 convergence lensing map. The joint cross-correlation of the CMB with the tracers yields a detection at 4σ where most of the signal-to-noise is due to the Planck lensing and the NVSS radio catalogue. In fact, the ISW effect is detected from the Planck data only at ≈3σ (through the ISW-lensing bispectrum), which is similar to the detection level achieved by combining the cross-correlation signal coming from all the galaxy catalogues mentioned above. We study the ability of the ISW effect to place constraints on the dark-energy parameters; in particular, we show that Ω Λ is detected at more than 3σ. This cross-correlation analysis is performed only with the Planck temperature data, since the polarization scales available in the 2015 release do not permit significant improvement of the CMB-LSS cross-correlation detectability. Nevertheless, the Planck polarization data are used to study the anomalously large ISW signal previously reported through the aperture photometry on stacked CMB features at the locations of known superclusters and supervoids, which is in conflict with ΛCDM expectations. We find that the current Planck polarization data do not exclude that this signal could be caused by the ISW effect. In addition, the stacking of the Planck lensing map on the locations of superstructures exhibits a positive cross-correlation with these large-scale structures. Finally, we have improved our previous reconstruction of the ISW temperature fluctuations by combining

  20. Black Hole Entropy from Bondi-Metzner-Sachs Symmetry at the Horizon.

    Science.gov (United States)

    Carlip, S

    2018-03-09

    Near the horizon, the obvious symmetries of a black hole spacetime-the horizon-preserving diffeomorphisms-are enhanced to a larger symmetry group with a three-dimensional Bondi-Metzner-Sachs algebra. Using dimensional reduction and covariant phase space techniques, I investigate this augmented symmetry and show that it is strong enough to determine the black hole entropy in any dimension.

  1. Shock absorption of below-knee prostheses : A comparison between the SACH and the Multiflex foot

    NARCIS (Netherlands)

    van Leeuwen, J. L.; Speth, L. A W M; Daanen, H. A M

    1990-01-01

    Shock waves were measured during walking on a treadmill on the metal tube of a below-knee KBM prosthesis, provided either with a SACH foot or with a Multiflex foot. Accelerations were measured in the axial direction and the dorso-ventral direction, about 160 mm proximal to the sole of the shoe. The

  2. 78 FR 24447 - Goldman Sachs Trust, et al.; Notice of Application

    Science.gov (United States)

    2013-04-25

    ... SECURITIES AND EXCHANGE COMMISSION [Investment Company Act Release No. 30471; 812-14075] Goldman Sachs Trust, et al.; Notice of Application April 19, 2013. AGENCY: Securities and Exchange Commission..., or cause more than 10% of the acquired company's voting stock to be owned by investment companies and...

  3. Tay-Sachs disease: high gene frequency in a non-Jewish population.

    Science.gov (United States)

    Kelly, T E; Chase, G A; Kaback, M M; Kumor, K; McKusick, V A

    1975-01-01

    A non-Amish "Pennsylvania Dutch" semi-isolate was found to have a high frequency of Tay-Sachs gene. This high frequency could be ascribed to founder effect and may represent, in microcosm, how this mechanism could have produced the high gene frequency among Ashkenazi Jews. PMID:803011

  4. Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment.

    Science.gov (United States)

    Shapiro, B E; Hatters-Friedman, S; Fernandes-Filho, J A; Anthony, K; Natowicz, M R

    2006-09-12

    The authors conducted a retrospective and brief prospective study of adverse effects of approximately 350 medications in 44 adults with late-onset Tay-Sachs disease (LOTS). Some medications were relatively safe, whereas others, particularly haloperidol, risperidone, and chlorpromazine, were associated with neurologic worsening.

  5. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening

    Energy Technology Data Exchange (ETDEWEB)

    Triggs-Raine, B.L.; Akerman, B.R.; Gravel, R.A. (McGill Univ.-Montreal Children' s Hospital Research Institute, Montreal, Quebec (Canada)); Mules, E.H.; Thomas, G.H.; Dowling, C.E. (Johns Hopkins School of Medicine, Baltimore, MD (United States)); Kaback, M.M.; Lim-Steele, J.S.T. (Univ. of California, San Diego, CA (United States)); Natowicz, M.R. (Eunice Kennedy Shriver Center for Mental Retardation, Waltham, MA (United States)); Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Navon, R.R. (Tel-Aviv Univ., Kfar-Sava (Israel)); Welch, J.P. (Dalhousie Univ., Halifax, Nova, Scotia (Canada)); Greenberg, C.R. (Univ. of Manitoba, Winnipeg (Canada))

    1992-10-01

    Deficiency of [beta]-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. The authors analyzed the HEXA gene of one pseudodeficient subject and identified both a C[sub 739]-to-T substitution that changes Arg[sub 247][yields]Trp on one allele and a previously identified Tay-Sachs disease mutation of the second allele. Six additional pseudodeficient subjects were found to have the C[sub 739]-to-T but for none of 36 Jewish enzyme-defined carries who did not have one of three known mutations common to this group. The C[sub 739]-to-T allele, together with a [open quotes]true[close quotes] Tay-Sachs disease allele, causes Hex A pseudodeficiency. Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C[sub 739]-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. This could prevent unnecessary or incorrect prenatal diagnoses. 40 refs., 3 figs., 4 tabs.

  6. Energy in the Kantowski–Sachs space-time using teleparallel ...

    Indian Academy of Sciences (India)

    Inflation is again considered to be one of the early phases of the Universe [10]. For testing gravitational energy–momentum tensor of the teleparallel theory in quasilocal approach and also in the. Hamiltonian structure of TEGR, it is intended to calculate the total energy of inflationary. Kantowski–Sachs-type Universe. Again ...

  7. Outcomes of arthroscopic "Remplissage": capsulotenodesis of the engaging large Hill-Sachs lesion

    Directory of Open Access Journals (Sweden)

    Mayo Lee

    2011-06-01

    Full Text Available Abstract Background A Hill-Sachs lesion of the humeral head after a shoulder dislocation is clinically insignificant in most cases. However, a sizable defect will engage with the anterior rim of the glenoid and cause instability even after anterior glenoid reconstruction. The purpose of this study was to evaluate the outcome of arthroscopic capsulotenodesis of the posterior capsule and infraspinatus tendon ("remplissage" to seal a large engaging Hill-Sachs lesion in an unstable shoulder. Methods This was a prospective follow-up study of patients who underwent arthroscopic surgery for recurrent shoulder instability with a large engaging Hill-Sachs lesion from 2007 to 2009. The clinical results were measured preoperatively and postoperatively with the Simple Shoulder test (SST and the Rowe score for instability. Results Eleven patients met the inclusion criteria of this study. The mean follow-up time was 30 months (range 24 to 35 months. At the last follow-up, significant improvement was observed in both scores with no recurrent dislocations. The mean SST improved from 6.6 to 11 (p Conclusions Arthroscopic remplissage for shoulder instability is an effective soft tissue technique to seal a large engaging Hill-Sachs lesion with respect to recurrence rate, range of motion and shoulder function.

  8. Three-dimensional computed tomography measurement accuracy of varying Hill-Sachs lesion size.

    Science.gov (United States)

    Ho, Anthony; Kurdziel, Michael D; Koueiter, Denise M; Wiater, J Michael

    2018-02-01

    The glenoid track concept has been proposed to correlate shoulder stability with bone loss. Accurate assessment of Hill-Sachs lesion size preoperatively may affect surgical planning and postoperative outcomes; however, no measurement method has been universally accepted. This study aimed to assess the accuracy and reliability of measuring Hill-Sachs lesion sizes using 3-dimensional (3D) computed tomography (CT). Nine polyurethane humerus bone substitutes were used to create Hill-Sachs lesions of varying sizes with a combination of lesion depth (shallow, intermediate, and deep) and width (small, medium, and large). Specimens were scanned with a clinical CT scanner for size measurements and a micro-CT scanner for measurement of true lesion size. Six evaluators repeated measurements twice in a 2-week interval. Scans were measured by use of 3D CT reconstructions for length, width, and Hill-Sachs interval and with use of 2D CT for depth. The interclass correlation coefficient evaluated interobserver and intraobserver variability and percentage error, and Student t-tests assessed measurement accuracy. Interclass correlation coefficient reliability demonstrated strong agreement for all variables measured (0.856-0.975). Percentage error between measured length and measured depth and the true measurement significantly varied with respect to both lesion depth (P = .003 and P = .005, respectively) and lesion size (P = .049 and P = .004, respectively). The 3D CT imaging is effective and reproducible in determining lesion size. Determination of Hill-Sachs interval width is also reliable when it is applied to the glenoid track concept. Measured values on 3D and 2-dimensional imaging using a conventional CT scanner may slightly underestimate true measurements. Copyright © 2017 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

  9. Sachês antimicrobianos em pós-colheita de manga

    Directory of Open Access Journals (Sweden)

    Eber Antonio Alves Medeiros

    2011-10-01

    Full Text Available Objetivou-se com este trabalho desenvolver sachês incorporados com óleos essenciais avaliando as propriedades físico-químicas e microbiológicas de mangas armazenadas em saco de papel contendo estes sachês em seu interior. Os óleos essenciais de orégano (Origanum vulgaris e capim-limão (Cymbopogon citratus foram incorporados em saches, e sua atividade antimicrobiana foi testada nos fungos Colletotrichum gloeosporides, Lasiodiplodia theobromae, Xanthomonas campestris pv. mangiferae indica, Alternaria alternata. Frutos de manga 'Tommy Atkins' foram acondicionados individualmente em sacos de papel contendo em seu interior um sachê antimicrobiano e mantidos a 25 °C ± 2 °C e UR 80% ± 5% por nove dias. Os parâmetros cor da epiderme, firmeza de polpa, sólidos solúveis, acidez titulável e pH sofreram pouca influência dos óleos essenciais de orégano e capim limão, indicando que a presença do óleo essencial não altera as características físico-químicas da polpa de manga. Os sachês ativos incorporados com óleos essenciais de orégano e capim limão apresentaram controle no crescimento dos microrganismos testados, sendo o capim-limão mais eficiente, reduzindo em aproximadamente 2 ciclos Log a contagem de mesófilos aeróbios e fungos filamentosos e leveduras em relação ao tratamento controle empregado.

  10. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

    Directory of Open Access Journals (Sweden)

    Roberto Rozenberg

    Full Text Available CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de São Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70% elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

  11. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.

    Science.gov (United States)

    Rozenberg, R; Pereira, L da V

    2001-07-05

    Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. Laboratory of Molecular Genetics--Institute of Biosciences--Universidade de São Paulo. 581 senior students from selected Jewish high schools. Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

  12. CMB anisotropies at all orders: the non-linear Sachs-Wolfe formula

    Energy Technology Data Exchange (ETDEWEB)

    Roldan, Omar, E-mail: oaroldan@if.ufrj.br [Instituto de Física, Universidade Federal do Rio de Janeiro, 21941-972, Rio de Janeiro, RJ (Brazil)

    2017-08-01

    We obtain the non-linear generalization of the Sachs-Wolfe + integrated Sachs-Wolfe (ISW) formula describing the CMB temperature anisotropies. Our formula is valid at all orders in perturbation theory, is also valid in all gauges and includes scalar, vector and tensor modes. A direct consequence of our results is that the maps of the logarithmic temperature anisotropies are much cleaner than the usual CMB maps, because they automatically remove many secondary anisotropies. This can for instance, facilitate the search for primordial non-Gaussianity in future works. It also disentangles the non-linear ISW from other effects. Finally, we provide a method which can iteratively be used to obtain the lensing solution at the desired order.

  13. CMB anisotropies at all orders: the non-linear Sachs-Wolfe formula

    International Nuclear Information System (INIS)

    Roldan, Omar

    2017-01-01

    We obtain the non-linear generalization of the Sachs-Wolfe + integrated Sachs-Wolfe (ISW) formula describing the CMB temperature anisotropies. Our formula is valid at all orders in perturbation theory, is also valid in all gauges and includes scalar, vector and tensor modes. A direct consequence of our results is that the maps of the logarithmic temperature anisotropies are much cleaner than the usual CMB maps, because they automatically remove many secondary anisotropies. This can for instance, facilitate the search for primordial non-Gaussianity in future works. It also disentangles the non-linear ISW from other effects. Finally, we provide a method which can iteratively be used to obtain the lensing solution at the desired order.

  14. Role of the physician in screening for carriers of Tay-Sachs disease.

    Science.gov (United States)

    Lowden, J. A.

    1978-01-01

    A screening test for carriers of Tay-Sachs disease has been available in Toronto for more than 6 years. In that time more than 11 000 Jewish residents have been tested. Most had requested testing after hearing about the screening program from friends or the media; few had been advised by their physicians to be tested. To sample the attitudes of physicians in Toronto towards carrier screening, we studied questionnaire responses of 42 physicians whose practices were composed largely of Jewish patients. Only 31% regularly advised their young adult Jewish patients to have a carrier screening test but 76% said they had patients who asked if they should be tested. Of the 14 (33%) who had had one or more patients with Tay-Sachs disease 6 did not advise carrier testing. There was a positive correlation between specialty training and support for the screening program. Methods for increasing physician advocacy of these programs are discussed. PMID:709448

  15. Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

    Science.gov (United States)

    Elstein, D; Doniger, G M; Simon, E; Korn-Lubetzki, I; Navon, R; Zimran, A

    2008-08-01

    To test neurocognitive function in patients with late-onset Tay-Sachs disease (LOTS) using a computerized system to assess whether cognition is a clinically relevant outcome measure of possible therapeutic intervention in LOTS. Ten adults with Tay-Sachs disease were administered at least one battery of the Mindstreams Neurotrax system for evaluation of cognitive function. Six sub-scores and a Global Cognitive Score (GCS) were tabulated. A disease specific severity score was also devised with six domains. Despite identical genotypes, all patients but the two oldest had > or = 3/6 sub-scores one standard deviation below normal mean (100); verbal and executive functions were most affected. The severity score measured other functions. Because of provocative findings on re-testing in patients exposed to miglustat, and despite the very small cohort, cognitive function may be an appropriate and clinically relevant outcome measure for future therapeutic interventions in LOTS.

  16. Quantum field theory of the universe in the Kantowski-Sachs space-time

    International Nuclear Information System (INIS)

    Shen, Y.; Tan, Z.

    1996-01-01

    In this paper, the quantum field theory of the universe in the Kantowski-Sachs space-time is studied. An analogue of proceedings in quantum field theory is applied in curved space-time to the Kantowski-Sachs space-time, obtaining the wave function of the universe satisfied the Wheeler-DeWitt equation. Regarding the wave function as a universe field in the minisuperspace, the authors can not only overcome the difficulty of the probabilistic interpretation in quantum cosmology, but also come to the conclusion that there is multiple production of universes. The average number of the produced universes from nothing is calculated. The distribution of created universe is given. It is the Planckian distribution

  17. Philipp Jacob Sachs von Lewenheimb (1627-1672) and his Role within Intellectual Network of the Czech Lands

    Czech Academy of Sciences Publication Activity Database

    Lelková, Iva

    2012-01-01

    Roč. 50, č. 26 (2012), s. 121-140 ISSN 0231-5955 Institutional support: RVO:67985955 Keywords : correspondence networks * learned society * Early Modern * observationes * scientific journal Subject RIV: AB - History

  18. Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.

    Science.gov (United States)

    Rozenberg, R; Kok, F; Burin, M G; Sá Miranda, M C; Vasques, C; Henriques-Souza, A M M; Giugliani, R; Vainzof, Mariz; Pereira, L V

    2006-06-01

    Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation with clinical course. Three patients were affected by the B1 subacute variant and were shown to carry the R178H mutation (the DN allele), which is also common among Portuguese patients. Two of them were compound heterozygotes, whereas the third presented with the mutation in both alleles. Since Brazil was a Portuguese colony for over two centuries, common ancestry might be the probable explanation. The fourth patient presented with a juvenile phenotype and carries the R499H mutation, which has been reported only once worldwide and is associated with residual enzyme activity, responsible for a slower clinical course. The fifth family, of an Ashkenazi Jewish background, showed an extensive intrafamilial clinical variability among three affected sibs presenting with muscle atrophy, ataxia, and psychiatric symptoms. They were first diagnosed as having atypical spinal muscular atrophy and, subsequently, spinocerebellar ataxia, but, recently, the diagnosis of late-onset Tay-Sachs disease was confirmed based on reduced plasma hexosaminidase A activity and the G269S/InsTATC1278 genotype. It is therefore highly recommended to test patients with a similar clinical history for Tay-Sachs disease. In the same family, one first cousin committed suicide at the age of 24 years, presenting with a clinical phenotype that suggested an undiagnosed case and highlighting the effect of the intrafamilial clinical variability in delaying a prompt diagnosis. It is now recognized that his parents are, in fact, a carrier couple. Additionally, another relative had been previously identified as a heterozygote in a Tay-Sachs disease screening program, but the information was not shared among the family. Since this information might anticipate diagnosis and genetic counseling, it is advisable that

  19. Substrate reduction therapy in the infantile form of Tay-Sachs disease.

    Science.gov (United States)

    Bembi, B; Marchetti, F; Guerci, V I; Ciana, G; Addobbati, R; Grasso, D; Barone, R; Cariati, R; Fernandez-Guillen, L; Butters, T; Pittis, M G

    2006-01-24

    Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.

  20. ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.

    Science.gov (United States)

    2005-10-01

    Tay-Sachs disease (TSD) is a severe progressive neurologic disease that causes death in early childhood. Carrier screening, should be offered before pregnancy to individuals and couples at high-risk, including those of Ashkenazi Jewish, French-Canadian, or Cajun descent and those with a family history consistent with TSD. If both partners are determined to be carriers of TSD, genetic counseling and prenatal diagnosis should be offered.

  1. Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay-Sachs disease.

    Science.gov (United States)

    Nakamura, Sadao; Saito, Yoshiaki; Ishiyama, Akihiko; Sugai, Kenji; Iso, Takashi; Inagaki, Masumi; Sasaki, Masayuki

    2015-01-01

    To clarify the evolution of an augmented startle reflex in Tay-Sachs disease and compare the temporal relationship between this reflex and brainstem evoked potentials. Clinical and electrophysiological data from 3 patients with Tay-Sachs disease were retrospectively collected. The augmented startle reflex appeared between the age of 3 and 17 months and disappeared between the age of 4 and 6 years. Analysis of brainstem auditory evoked potentials revealed that poor segregation of peak I, but not peak III, coincided with the disappearance of the augmented startle reflex. A blink reflex with markedly high amplitude was observed in a patient with an augmented startle reflex. The correlation between the augmented startle reflex and the preservation of peak I but not peak III supports the theory that the superior olivary nucleus is dispensable for this reflex. The blink reflex with high amplitudes may represent augmented excitability of reticular formation at the pontine tegmentum in Tay-Sachs disease, where the pattern generators for the augmented startle and blink reflexes may functionally overlap. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  2. Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.

    Directory of Open Access Journals (Sweden)

    Takashi Kodama

    Full Text Available To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2 levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-GM2 levels in the brain and plasma in Sandhoff mice were apparently increased compared with those in wild-type mice, and they decreased on intracerebroventricular administration of the modified Hex B. The lyso-GM2 levels in plasma of patients with Tay-Sachs disease and Sandhoff disease were increased, and the increase in lyso-GM2 was associated with a decrease in Hex A activity. Lyso-GM2 is expected to be a potential biomarker of Tay-Sachs disease and Sandhoff disease.

  3. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H

    1999-01-01

    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  4. Lars von Triers film

    DEFF Research Database (Denmark)

    Nielsen, Lisbeth Overgaard

    2007-01-01

    Afhandlingen undersøger Lars von Triers filmæstetik, som den kommer til udtryk i spillefilmene fra perioden 1984-2007. Afhandlingen analyserer de enkelte films stil, virkningsstrategi og betydningsdannelse.......Afhandlingen undersøger Lars von Triers filmæstetik, som den kommer til udtryk i spillefilmene fra perioden 1984-2007. Afhandlingen analyserer de enkelte films stil, virkningsstrategi og betydningsdannelse....

  5. Doença de Tay-Sachs em criança de raça negra Tay-Sachs disease in a Negro child

    Directory of Open Access Journals (Sweden)

    Sérgio Rosemberg

    1970-12-01

    Full Text Available É relatado um caso de doença de Tay-Sachs em criança da raça negra. O encontro desta entidade em indivíduos não judeus é bastante raro, sendo este o quinto caso descrito em criança negra. Os autores estudam alguns aspectos genéticos, chegando à conclusão de que o cálculo da freqüência do gene mutante é impossível devido ao pequeno número de casos e ao fato de que não há estimativas seguras quanto à taxa de nascimento de indivíduos negros na população, Em que pese o fato de o diagnóstico se assentar em bases puramente clínicas e anatômicas, prescindindo os autores de exames bioquímicos específicos, os dados apresentados são congruentes com os casos clássicos descritos na literatura.A case of Tay-Sachs diseases in a Negro child is reported. The occurrence of this disease in non-Jewish individuals is very rare and this is the fifth case of a Negro-child reported in the litterature. Some genetical aspects are studied and the authors conclude that the frequency calculation of the mutant gene is impossible due to the small number of cases and to the fact that there is reliable information regarding the rate of birth of Negro individuals in the general population. The diagnosis was based on ophtalmological and clinical data. No specific biochemical tests were performed but the data obtained are congruent with other cases reported in the litterature.

  6. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.

    Science.gov (United States)

    Hussein, Norita; Weng, Stephen F; Kai, Joe; Kleijnen, Jos; Qureshi, Nadeem

    2018-03-14

    Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review. To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 20 June 2017.Date of latest search of all other sources: 16 November 2017. Any randomised or quasi-randomised controlled trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle

  7. Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease

    Directory of Open Access Journals (Sweden)

    Jayesh Sheth

    2014-01-01

    Full Text Available Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52, resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified by us. The present study is aimed to determine additional mutations leading to Tay–Sachs disease in nine patients confirmed by the deficiency of β-hexosaminidase-A (C (D175A and c.805G>C (p.G269R in one case; and one small 1 bp deletion c.426delT (p.F142LfsX57 and one splice site mutation c.459+4A>C in the other two cases respectively. None of these mutations were detected in 100 chromosomes from healthy individuals of the same ethnic group. Three previously reported missense mutations, (i c.532C>T (p.R178C, (ii c.964G>T (p.D322Y, and (iii c.1385A>T (p.E462V; two nonsense mutations (i c.709C>T (p.Q237X and (ii c.1528C>T (p.R510X, one 4 bp insertion c.1277_1278insTATC (p.Y427IfsX5 and one splice site mutation c.459+5G>A were also identified in six cases. We observe from this study that novel mutations are more frequently observed in Indian patients with Tay–Sachs disease with clustering of ~73% of disease causing mutations in exons 5 to 12. This database can be used for a carrier rate screening in the larger population of the country.

  8. Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

    Science.gov (United States)

    Sheth, Jayesh; Mistri, Mehul; Datar, Chaitanya; Kalane, Umesh; Patil, Shekhar; Kamate, Mahesh; Shah, Harshuti; Nampoothiri, Sheela; Gupta, Sarita; Sheth, Frenny

    2014-01-01

    Tay-Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified by us. The present study is aimed to determine additional mutations leading to Tay-Sachs disease in nine patients confirmed by the deficiency of β-hexosaminidase-A (C (D175A) and c.805G>C (p.G269R) in one case; and one small 1 bp deletion c.426delT (p.F142LfsX57) and one splice site mutation c.459+4A>C in the other two cases respectively. None of these mutations were detected in 100 chromosomes from healthy individuals of the same ethnic group. Three previously reported missense mutations, (i) c.532C>T (p.R178C), (ii) c.964G>T (p.D322Y), and (iii) c.1385A>T (p.E462V); two nonsense mutations (i) c.709C>T (p.Q237X) and (ii) c.1528C>T (p.R510X), one 4 bp insertion c.1277_1278insTATC (p.Y427IfsX5) and one splice site mutation c.459+5G>A were also identified in six cases. We observe from this study that novel mutations are more frequently observed in Indian patients with Tay-Sachs disease with clustering of ~ 73% of disease causing mutations in exons 5 to 12. This database can be used for a carrier rate screening in the larger population of the country.

  9. [Dr Mavro Sachs (1817-1888): the first lecturer of Zagreb University].

    Science.gov (United States)

    Dugacki, Vladimir

    2010-01-01

    Mavro Sachs (Jánosháza, Hungary, 1817 % emdash; Rijeka, 1888.) was a Zagreb student since 1828. In 1846 he graduated in medicine from the University of Vienna and returned to Zagreb to be the city physician. In 1849, he started to teach forensic medicine at the School of Law of the Royal Academy of Sciences in Zagreb and continued teaching the same subject at the Zagreb University Faculty of Law in the capacity of docent (corresponds to lecturer in the British system). He also taught medical law at pharmaceutical studies of Zagreb University. From 1855 to 1860, he presided over the Jewish Community of Zagreb.

  10. Mechanism of interrupted saccades in patients with late-onset Tay-Sachs disease.

    Science.gov (United States)

    Optican, Lance M; Rucker, Janet C; Keller, Edward L; Leigh, R John

    2008-01-01

    In late-onset Tay-Sachs disease (LOTS), saccades are interrupted by one or more transient decelerations. Some saccades reaccelerate and continue on before eye velocity reaches zero, even in darkness. Intervals between successive decelerations are not regularly spaced. Peak decelerations of horizontal and vertical components of oblique saccades in LOTS is more synchronous than those in control subjects. We hypothesize that these decelerations are caused by dysregulation of the fastigial nuclei (FN) of the cerebellum, which fire brain stem inhibitory burst neurons (IBNs).

  11. Probleme mit „Modernisierung als Interpretationsrahmen von sozialer Arbeit und ‚Mütterlichkeit‘“ Problems with “Modernisierung als Interpretationsrahmen von sozialer Arbeit und ‘Mütterlichkeit’” (Modernization as Interpretive Structure for Social Work and ‘Motherliness’

    Directory of Open Access Journals (Sweden)

    Brita Rang

    2004-11-01

    Full Text Available Unverändert ist das bereits 1986 von Christoph Sachße vorgelegte Buch nun ein drittes Mal, allerdings in einem anderen Verlag erschienen. Gegenstand ist die Entstehung der modernen beruflichen Sozialarbeit, die – so die These –, aus einer Verbindung von bürgerlich-kommunaler Wohlfahrtspflege und bürgerlich-konservativer Frauenbewegung hervorging. Deren ethisches Konzept der ‚geistigen Mütterlichkeit‘ habe jedoch von Beginn an in einem Spannungsverhältnis zur zunehmenden Verberuflichung und Bürokratisierung der sozialen Arbeit im Ersten Weltkrieg und der Weimarer Republik gestanden.Christoph Sachße’s 1986 work has been published for the third time in an unaltered form, albeit with a different publisher. The object of study is the origin of modern occupational social work that—according to the thesis—developed from the alliance of middle-class/municipal welfare work and the middle-class/conservative women’s movement. Their ethical concept of ‘spiritual motherliness’, however, maintained a tense relationship to the increasing bureaucratization of social work and the incorporation thereof as a mode of occupation during World War I and the Weimar Republic.

  12. Generalized Bondi-Sachs equations for characteristic formalism of numerical relativity

    Science.gov (United States)

    Cao, Zhoujian; He, Xiaokai

    2013-11-01

    The Cauchy formalism of numerical relativity has been successfully applied to simulate various dynamical spacetimes without any symmetry assumption. But discovering how to set a mathematically consistent and physically realistic boundary condition is still an open problem for Cauchy formalism. In addition, the numerical truncation error and finite region ambiguity affect the accuracy of gravitational wave form calculation. As to the finite region ambiguity issue, the characteristic extraction method helps much. But it does not solve all of the above issues. Besides the above problems for Cauchy formalism, the computational efficiency is another problem. Although characteristic formalism of numerical relativity suffers the difficulty from caustics in the inner near zone, it has advantages in relation to all of the issues listed above. Cauchy-characteristic matching (CCM) is a possible way to take advantage of characteristic formalism regarding these issues and treat the inner caustics at the same time. CCM has difficulty treating the gauge difference between the Cauchy part and the characteristic part. We propose generalized Bondi-Sachs equations for characteristic formalism for the Cauchy-characteristic matching end. Our proposal gives out a possible same numerical evolution scheme for both the Cauchy part and the characteristic part. And our generalized Bondi-Sachs equations have one adjustable gauge freedom which can be used to relate the gauge used in the Cauchy part. Then these equations can make the Cauchy part and the characteristic part share a consistent gauge condition. So our proposal gives a possible new starting point for Cauchy-characteristic matching.

  13. Integrated Sachs-Wolfe effect in a quintessence cosmological model: Including anisotropic stress of dark energy

    International Nuclear Information System (INIS)

    Wang, Y. T.; Xu, L. X.; Gui, Y. X.

    2010-01-01

    In this paper, we investigate the integrated Sachs-Wolfe effect in the quintessence cold dark matter model with constant equation of state and constant speed of sound in dark energy rest frame, including dark energy perturbation and its anisotropic stress. Comparing with the ΛCDM model, we find that the integrated Sachs-Wolfe (ISW)-power spectrums are affected by different background evolutions and dark energy perturbation. As we change the speed of sound from 1 to 0 in the quintessence cold dark matter model with given state parameters, it is found that the inclusion of dark energy anisotropic stress makes the variation of magnitude of the ISW source uncertain due to the anticorrelation between the speed of sound and the ratio of dark energy density perturbation contrast to dark matter density perturbation contrast in the ISW-source term. Thus, the magnitude of the ISW-source term is governed by the competition between the alterant multiple of (1+3/2xc-circumflex s 2 ) and that of δ de /δ m with the variation of c-circumflex s 2 .

  14. Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.

    Science.gov (United States)

    Ozkara, Hatice Asuman; Sandhoff, Konrad

    2003-04-01

    Two homoallelic mutations have recently been identified in the alpha-subunit of hexosaminidase A (EC 3.2.1.52) causing the infantile form of Tay-Sachs disease in Turkish patients. Both of these mutations, a 12 bp deletion (1096-1107 or 1098-1108 or 1099-1109) in exon 10 and a point mutation (G1362 to A, Gly454 to Asp) in exon 12, are located in the catalytic domain of the hexosaminidase alpha-chain. In order to determine whether these mutations affect the function of the catalytic domain or result in an instable protein, both mutant cDNAs were overexpressed in COS-1 cells. As judged by Western blotting, transfections of wild-type cDNA produced pro-alpha-chain and mature alpha-chain in parallel with a fivefold increase in cellular hexosaminidase activity using the synthetic substrate 4-methylumbelliferyl beta-N-acetylglucosamine 6-sulfate (MUGS). However, both mutants produced only pro-alpha-chains, although no mature form or detectable hexosaminidase activity towards two different synthetic substrates was observed. These data are consistent with the biochemical phenotype of infantile Tay-Sachs disease. We conclude that the overexpressed mutant pro-alpha-chains were misfolded and could not undergo further proteolytic processing to the active form of the enzyme in the lysosome.

  15. Rhizostomeen von Manila

    NARCIS (Netherlands)

    Stiasny, G.

    1924-01-01

    Die hier beschriebene kleine Scyphomedusen-Sammlung wurde von Herrn Director P. B. Sivickis, Dept. of Zoology, University of Philippines, Manila, dem Rijksmuseum van Natuurlijke Historie in Leiden überwiesen. Das Material wurde im December 1922 in Manila-bay gefischt und befindet sich in bestem

  16. Schmetterlinge von Madeira

    NARCIS (Netherlands)

    Martin, K.

    1941-01-01

    Wer auf einer ozeanischen Insel Schmetterlinge sammeln will, darf seine Erwartungen nicht zu hoch spannen; aber dennoch waren meine Frau und ich sehr enttäuscht, als uns auf einer Reise nach Madeira von einer dort angesessenen, gebildeten Dame gesagt wurde, sie habe auf der Insel niemals einen

  17. Biologischer Anbau von Strauchbeeren

    OpenAIRE

    Schmid, Andi

    2004-01-01

    Das Merkblatt enthält auf Österreich angepasste, praxisnahe Informationen zur Produktion von hochwertigen Strauchbeeren wie Himbeeren, Brombeeren, Johannisbeeren, Stachelbeeren und Heidelbeeren. Weiterhin: übersichtliche Hinweise zur Planung, Standortwahl, Sortenauswahl, Bodenvorbereitung und Pflanzung, Bewässerung, Nährstoffversorgung, Witterungsschutz, Beikrautregulierung, Ernte und Lagerung. (Diese Publikation enthält spezifische Informationen für Österreich)

  18. "Cherry red spot" in a patient with Tay-Sachs disease: case report "Mácula em cereja" em paciente com doença de Tay-Sachs: relato de caso

    Directory of Open Access Journals (Sweden)

    Ricardo Evangelista Marrocos de Aragão

    2009-08-01

    Full Text Available Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzime hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called "cherry red spot" is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic.Tay-Sachs é uma doença autossômica recessiva, caracterizada pela deficiência da enzima hexosaminidase A levando ao acúmulo de esfingolipídios (GM2 em células neuronais que resulta em uma perda progressiva da função neurológica. O acúmulo de lipídios em células ganglionais da retina leva a uma aparência de mácula em cereja, característica do fundo de olho de pessoas acometidas. "Mácula em cereja" também pode ser vista em outras doenças neurometabólicas e em oclusão da artéria central da retina. Este trabalho relata o caso de um paciente com doença de Tay-Sachs em uma família com história de quatro óbitos por causas semelhantes sem diagnóstico.

  19. Regional neuro axonal injury detected by 1H 3 Tesla spectroscopic imaging in late onset Tay sachs

    International Nuclear Information System (INIS)

    Gagoski, Borjan Aleksandar; Eichler, Florian S.

    2010-01-01

    Late-onset Tay Sachs (LOTS) is a rare lysosomal storage disorder resulting from mutations of the subunit of the lysosomal enzyme β-hexosaminidase A, which catalyzes the degradation of GM2 ganglioside. We have applied the fast encoding spectroscopic imaging technique to LOTS patients to further investigate the neuro degenerative consequences of this disease.(Author)

  20. Exact Kantowski-Sachs and Bianchi types I and III cosmological models with a conformally invariant scalar field

    International Nuclear Information System (INIS)

    Accioly, A.J.

    1985-01-01

    Exact solutions of the Einstein-Conformally Invariant Scalar Field Equations are obtained for Kantowski-Sachs and Bianchi types I and III cosmologies. The presence of the conformally invariant scalar field is responsible for some interesting features of the solutions. In particular it is found that the Bianchi I model is consistent with the big-bang theory of cosmology. (Author) [pt

  1. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

    Science.gov (United States)

    Neudorfer, Orit; Pastores, Gregory M; Zeng, Bai J; Gianutsos, John; Zaroff, Charles M; Kolodny, Edwin H

    2005-02-01

    The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses. A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' alpha-subunit mutations (beta-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course. Twenty-one patients (current mean age: 27.0 years; range: 14-47 years) were identified. The pedigree revealed a relative with the "classic" infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the beta-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N = 1) or heterozygosity (N = 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N = 18) tested, regardless of disease stage. Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later

  2. Unverrichteter Sache

    Directory of Open Access Journals (Sweden)

    Jani Kirov

    2007-01-01

    Full Text Available Rezensiertes Werk: Adriaan Lanni, Law and Justice in the Courts of Classical Athens, Cambridge: Cambridge University Press 2006, 210 S., ISBN-13 978-0-521-85759-8; ISBN-10 0-521-85759-7

  3. Nutzerorientiertes Management von materiellen und immateriellen Informationsobjekten

    OpenAIRE

    Hübsch, Chris

    2001-01-01

    Schaffung einer stabilen, erweiterbaren und skalierbaren Infrastruktur für die Bereitstellung von Diensten im Umfeld von Bibliotheken und ähnlichen wissensanbietenden Einrichtungen unter Verwendung von XML-RPC und Python.

  4. Phenomenological dynamics of loop quantum cosmology in Kantowski-Sachs spacetime

    International Nuclear Information System (INIS)

    Chiou, D.-W.

    2008-01-01

    The fundamental theory and the semiclassical description of loop quantum cosmology (LQC) have been studied in the Friedmann-Robertson-Walker and Bianchi I models. As an extension to include both anisotropy and intrinsic curvature, this paper investigates the cosmological model of Kantowski-Sachs spacetime with a free massless scalar field at the level of phenomenological dynamics with the LQC discreteness corrections. The LQC corrections are implemented in two different improved quantization schemes. In both schemes, the big bang and big crunch singularities of the classical solution are resolved and replaced by the big bounces when the area or volume scale factor approaches the critical values in the Planck regime measured by the reference of the scalar field momentum. Symmetries of scaling are also noted and suggest that the fundamental spatial scale (area gap) may give rise to a temporal scale. The bouncing scenarios are in an analogous fashion of the Bianchi I model, naturally extending the observations obtained previously.

  5. Tay-Sachs disease: progression of changes on neuroimaging in four cases

    Energy Technology Data Exchange (ETDEWEB)

    Fukumizu, M; Yoshikawa, H; Kurokawa, T [National Center Hospital for Mental, Nervous, and Muscular Disorders, Tokyo (Japan). Div. of Child Neurology; Takashima, S [National Inst. of Neuroscience, National Center of Neurology and Psychiatry, Tokyo (Japan). Div. of Mental Retardation and Birth Defect Research; Sakuragawa, N [National Inst. of Neuroscience, National Center of Neurology and Psychiatry, Tokyo (Japan). Div. of Inherited Metabolic Disease

    1992-11-01

    The neuroradiological findings in four patients with Tay-Sachs disease are described in three phases of the clinical course. The basal ganglia and cerebral white matter show low density on computed tomography and high signal intensity on T2-weighted magnetic resonance imaging in the initial phase. The caudate nuclei are characteristically enlarged and protrude into the lateral ventricles in the first and second phases. The cerebral white matter shows low density on the CT which varies in extent from the second to third phases, and the whole brain becomes atrophic in the last phase. Thus, central nervous system involvement in the disease may begin in basal ganglia as well as in cerebral white matter. (orig.).

  6. Optical structures, algebraically special spacetimes, and the Goldberg-Sachs theorem in five dimensions

    International Nuclear Information System (INIS)

    Taghavi-Chabert, Arman

    2011-01-01

    Optical (or Robinson) structures are one generalization of four-dimensional shearfree congruences of null geodesics to higher dimensions. They are Lorentzian analogues of complex and CR structures. In this context, we extend the Goldberg-Sachs theorem to five dimensions. To be precise, we find a new algebraic condition on the Weyl tensor, which generalizes the Petrov type II condition, in the sense that it ensures the existence of such congruences on a five-dimensional spacetime, vacuum or under weaker assumptions on the Ricci tensor. This results in a significant simplification of the field equations. We discuss possible degenerate cases, including a five-dimensional generalization of the Petrov type D condition. We also show that the vacuum black ring solution is endowed with optical structures, yet fails to be algebraically special with respect to them. We finally explain the generalization of these ideas to higher dimensions, which has been checked in six and seven dimensions.

  7. Tay-Sachs disease: progression of changes on neuroimaging in four cases

    International Nuclear Information System (INIS)

    Fukumizu, M.; Yoshikawa, H.; Kurokawa, T.; Takashima, S.; Sakuragawa, N.

    1992-01-01

    The neuroradiological findings in four patients with Tay-Sachs disease are described in three phases of the clinical course. The basal ganglia and cerebral white matter show low density on computed tomography and high signal intensity on T2-weighted magnetic resonance imaging in the initial phase. The caudate nuclei are characteristically enlarged and protrude into the lateral ventricles in the first and second phases. The cerebral white matter shows low density on the CT which varies in extent from the second to third phases, and the whole brain becomes atrophic in the last phase. Thus, central nervous system involvement in the disease may begin in basal ganglia as well as in cerebral white matter. (orig.)

  8. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.

    Science.gov (United States)

    Shapiro, Barbara E; Logigian, Eric L; Kolodny, Edwin H; Pastores, Gregory M

    2008-08-01

    Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal storage disorder caused by a partial deficiency of beta-hexosaminidase A (HEXA) activity. Deficient levels of HEXA result in the intracellular accumulation of GM2-ganglioside, resulting in toxicity to nerve cells. Clinical manifestations primarily involve the central nervous system (CNS) and lower motor neurons, and include ataxia, weakness, spasticity, dysarthria, dysphagia, dystonia, seizures, psychosis, mania, depression, and cognitive decline. The prevalence of peripheral nervous system (PNS) involvement in LOTS has not been well documented, but it has traditionally been thought to be very low. We examined a cohort of 30 patients with LOTS who underwent clinical and electrophysiologic examination, and found evidence of a predominantly axon loss polyneuropathy affecting distal nerve segments in the lower and upper extremities in eight patients (27%).

  9. Hill-Sachs lesion location: does it play a role in engagement?

    Energy Technology Data Exchange (ETDEWEB)

    Gyftopoulos, Soterios; Wang, Annie; Babb, James [NYU Langone Medical Center, Department of Radiology, New York, NY (United States)

    2015-08-15

    To see if there is an association between engagement on physical examination (PE) and the location of the Hill-Sachs lesion (HSL) as assessed by the modified biceps angle. Sixty-two patients with a history of anterior shoulder dislocation, who underwent preoperative MRI and arthroscopy at our institution and were tested for engagement on PE, were collected. Two musculoskeletal radiologists reviewed the MR studies, noting the presence of an HSL and documenting the location of the HSL with the modified biceps angle. Statistical analysis included the Mann-Whitney (MW) test and ROC (receiver-operating characteristic) curve. Of 62 patients, there were 58 males and 4 females with a mean age of 30 (range 18-59 years). Twenty patients demonstrated engagement on PE, while 42 did not. All patients had evidence of an HSL on MRI and arthroscopy. The mean biceps angle for the engaging group was 151.5 ± 13.9 , and 142.4 ± 17.3 for the non-engaging group. The biceps angle was statistically significantly higher among patients who had engagement compared to those who did not (p = 0.027). Overall, diagnostic accuracy was highest for a biceps angle >149 , which resulted in a sensitivity of 70 % and specificity of 67 %. The modified biceps angle, as measured on MRI, was significantly higher in patients who demonstrated engagement on physical examination than in those who did not. This supports the theory that the location of the Hill-Sachs lesion may play a role in engagement and may be its most important characteristic when determining its significance. (orig.)

  10. Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS).

    Science.gov (United States)

    Rucker, J C; Shapiro, B E; Han, Y H; Kumar, A N; Garbutt, S; Keller, E L; Leigh, R J

    2004-11-23

    Late-onset Tay-Sachs disease (LOTS) is an adult-onset, autosomal recessive, progressive variant of GM2 gangliosidosis, characterized by involvement of the cerebellum and anterior horn cells. To determine the range of visual and ocular motor abnormalities in LOTS, as a prelude to evaluating the effectiveness of novel therapies. Fourteen patients with biochemically confirmed LOTS (8 men; age range 24 to 53 years; disease duration 5 to 30 years) and 10 age-matched control subjects were studied. Snellen visual acuity, contrast sensitivity, color vision, stereopsis, and visual fields were measured, and optic fundi were photographed. Horizontal and vertical eye movements (search coil) were recorded, and saccades, pursuit, vestibulo-ocular reflex (VOR), vergence, and optokinetic (OK) responses were measured. All patients showed normal visual functions and optic fundi. The main eye movement abnormality concerned saccades, which were "multistep," consisting of a series of small saccades and larger movements that showed transient decelerations. Larger saccades ended earlier and more abruptly (greater peak deceleration) in LOTS patients than in control subjects; these changes can be attributed to premature termination of the saccadic pulse. Smooth-pursuit and slow-phase OK gains were reduced, but VOR, vergence, and gaze holding were normal. Patients with late-onset Tay-Sachs disease (LOTS) show characteristic abnormalities of saccades but normal afferent visual systems. Hypometria, transient decelerations, and premature termination of saccades suggest disruption of a "latch circuit" that normally inhibits pontine omnipause neurons, permitting burst neurons to discharge until the eye movement is completed. These measurable abnormalities of saccades provide a means to evaluate the effects of novel treatments for LOTS.

  11. Bianchi - I, II, VIII, IX and Kantowski-Sachs-like cosmological models with perfect fluid and electromagnetic fields with conductivity current

    International Nuclear Information System (INIS)

    Portugal, R.

    1984-01-01

    Three processes of solutions of the Einstein-Maxwell equations for Bianchi - I, II, VIII, IX and Kantowski-Sachs-like cosmological models with perfect fluid in magnetohydrolodynamical regimem are presented. Diagonal Bianchi-like models are considered with two anisotropy direction in the maximum. Solutions are found for Bianchi-II and IX-like models with energy conditions to be analyzed. Solutions are found for Bianchi-IX and Kantowski-Sachs-Like models with positive electric conductivity and satisfering to the predominant energy conditions. Solutions are formed for isotropic Kantowski-Sachs-Like models satisfering to the equation of state p=λρ, 0 0, admiting, in addition to the perfect fluid, electric field only. It is shown that a class of Bertotti-Robinson-like solutions is unstable by perturbations and it is carried in Kantowski-Sachs-like models with non-null electric conductivity. (L.C.) [pt

  12. Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease.

    Science.gov (United States)

    Hayase, Tomomi; Shimizu, Jun; Goto, Tamako; Nozaki, Yasuyuki; Mori, Masato; Takahashi, Naoto; Namba, Eiji; Yamagata, Takanori; Momoi, Mariko Y

    2010-03-01

    We report the case of a girl with Tay-Sachs disease who had convulsions and deteriorated rapidly after an upper respiratory infection at the age of 11 months. At the age of 16 months, her seizures became intractable and magnetic resonance imaging of the brain showed high signal intensity on T2-weighted images and marked swelling in the white matter and basal nucelei of the right hemisphere. Her seizures and right hemisphere lesion improved with glycerol and dexamethasone treatment. When dexamethasone was discontinued, her symptoms worsened and lesions later appeared in the left hemisphere. Her cerebrospinal fluid showed elevated levels of the cytokines TNF-alpha and IL-5. It is considered that inflammation contributes to disease progression in Tay-Sachs disease.

  13. İki Kardeşte Görülen Tay-Sachs Hastalığı

    OpenAIRE

    KÜÇÜKÖDÜK, Ş.

    2010-01-01

    In view of two cases of autosomal recessive Tay-Sachs disease which affected two siblings, genetic consultation has been once more emphasized. The clinical features of this entity has been reviewed under the information obtained from recent literature. Otozomal resesif geçiş gösteren ve iki kardeşide etkiliyen Tay-Sachs hastalığında, genetik danışmanın önemi bir kez daha vurgulandı. Bu hastalığın klinik özellikleri literatür bilgilerinin ışığı altında gözden geçirildi....

  14. The pre-Anschluss Vienna School of Medicine - the physicians: Sigmund Freud (1856-1939), Julius Wagner-Jauregg (1857-1940) and Karel Wenckebach (1864-1940).

    Science.gov (United States)

    Shaw, Lily Bzl; Shaw, Robert A

    2016-05-01

    Three physicians are discussed. Sigmund Freud, probably the best-known member of the Vienna School of Medicine, was the path-breaking pioneer in psychoanalysis and psychotherapy. Julius Wagner-Jauregg was a psychiatrist who discovered the link between iodine deficiency and goitre and also developed malaria therapy to treat progressive paralysis caused by syphilis for which he was awarded the Nobel Prize. Karel Wenckebach, the pioneering Dutch cardiologist, is best known for the Wenckebach block. After the Anschluss, fate dealt very different hands to these three physicians. Freud fled to London where he soon died. Wagner-Jauregg, who had some pan-Germanic sympathies as well as views on eugenics, left a controversial legacy. The Dutch cardiologist Wenckebach died in Vienna shortly after his homeland had been invaded in 1940 by that of his hosts. © IMechE 2014.

  15. Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

    Energy Technology Data Exchange (ETDEWEB)

    Proia, R.L.; Yamanaka, S.; Johnson, M.D. [and others

    1994-09-01

    Tay-Sachs disease, the prototype of the G{sub M2} gangliosidoses, is a catastrophic neurodegenerative disorder of infancy. The disease is caused by mutations in the HEXA gene resulting in an absence of the lysosomal enzyme, {beta}-hexosaminidase A. As consequence of the enzyme deficiency, G{sub M2} ganglioside accumulates progressively, beginning early in fetal life, to excessive amounts in the central nervous system (CNS). Rapid mental and motor deterioration starting in the first year of life leads to death by 2 to 4 years of age. Through the targeted disruption of the Hexa gene in embryonic stem cells, we have produced mice with biochemical and neuropathologic features of Tay-Sachs disease. The mutant mice exhibited less than 1% of normal {beta}-hexosaminidase A activity and accumulated G{sub M2} ganglioside in their CNS in an age-dependent manner. The accumulated ganglioside was stored in neurons as membranous cytoplasmic bodies characteristically found in the neurons of Tay-Sachs disease patients. At three to five months of age the mutant mice showed no apparent defects in motor or memory function. These {beta}-hexosaminidase A deficient mice should be useful for devising strategies to introduce functional enzymes and genes into the CNS. This model may also be valuable for studying the biochemical and pathologic changes occurring during the course of the disease.

  16. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

    Science.gov (United States)

    Karimzadeh, Parvaneh; Jafari, Narjes; Nejad Biglari, Habibeh; Jabbeh Dari, Sayena; Ahmad Abadi, Farzad; Alaee, Mohammad-Reza; Nemati, Hamid; Saket, Sasan; Tonekaboni, Seyed Hasan; Taghdiri, Mohammad-Mahdi; Ghofrani, Mohammad

    2014-01-01

    GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A, B, and AB in reference to Wagnester Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease. 83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% had seizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures, pneumonia aspiration, or swallowing disorders. Neuro-imaging findings included bilateral thalamic involvement, brain atrophy, and hypo myelination in near half of our patients (48%). According to the results of this study, we suggest that cherry-red spots, hyperacusis, refractory seizures, and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.

  17. On the structure and applications of the Bondi-Metzner-Sachs group

    Science.gov (United States)

    Alessio, Francesco; Esposito, Giampiero

    This work is a pedagogical review dedicated to a modern description of the Bondi-Metzner-Sachs (BMS) group. Minkowski space-time has an interesting and useful group of isometries, but, for a generic space-time, the isometry group is simply the identity and hence provides no significant informations. Yet symmetry groups have important role to play in physics; in particular, the Poincaré group describing the isometries of Minkowski space-time plays a role in the standard definitions of energy-momentum and angular-momentum. For this reason alone it would seem to be important to look for a generalization of the concept of isometry group that can apply in a useful way to suitable curved space-times. The curved space-times that will be taken into account are the ones that suitably approach, at infinity, Minkowski space-time. In particular we will focus on asymptotically flat space-times. In this work, the concept of asymptotic symmetry group of those space-times will be studied. In the first two sections we derive the asymptotic group following the classical approach which was basically developed by Bondi, van den Burg, Metzner and Sachs. This is essentially the group of transformations between coordinate systems of a certain type in asymptotically flat space-times. In the third section the conformal method and the notion of “asymptotic simplicity” are introduced, following mainly the works of Penrose. This section prepares us for another derivation of the BMS group which will involve the conformal structure, and is thus more geometrical and fundamental. In the subsequent sections we discuss the properties of the BMS group, e.g. its algebra and the possibility to obtain as its subgroup the Poincaré group, as we may expect. The paper ends with a review of the BMS invariance properties of classical gravitational scattering discovered by Strominger, that are finding application to black hole physics and quantum gravity in the literature.

  18. Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

    Directory of Open Access Journals (Sweden)

    Mehul Mistri

    Full Text Available Tay Sachs disease (TSD is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. The mutations leading to Tay Sachs disease in India are yet unknown. We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene. The clinical inclusion criteria included neuroregression, seizures, exaggerated startle reflex, macrocephaly, cherry red spot on fundus examination and spasticity. Neuroimaging criteria included thalamic hyperdensities on CT scan/T1W images of MRI of the brain. Biochemical criteria included deficiency of hexosaminidase A (less than 2% of total hexosaminidase activity for infantile patients. Total leukocyte hexosaminidase activity was assayed by 4-methylumbelliferyl-N-acetyl-β-D-glucosamine lysis and hexosaminidase A activity was assayed by heat inactivation method and 4-methylumbelliferyl-N-acetyl-β-D-glucosamine-6-sulphate lysis method. The exons and exon-intron boundaries of the HEXA gene were bidirectionally sequenced using an automated sequencer. Mutations were confirmed in parents and looked up in public databases. In silico analysis for mutations was carried out using SIFT, Polyphen2, MutationT@ster and Accelrys Discovery Studio softwares. Fifteen families were included in the study. We identified six novel missense mutations, c.340 G>A (p.E114K, c.964 G>A (p.D322N, c.964 G>T (p.D322Y, c.1178C>G (p.R393P and c.1385A>T (p.E462V, c.1432 G>A (p.G478R and two previously reported mutations. c.1277_1278insTATC and c.508C>T (p.R170W. The mutation p.E462V was found in six unrelated families from Gujarat indicating a founder effect. A previously known splice site mutation c.805+1 G>C and another intronic mutation c.672+30 T>G of unknown significance were also identified. Mutations could not be identified in one family. We conclude that TSD patients from Gujarat should be screened for the common mutation p.E462V.

  19. Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

    Science.gov (United States)

    Mistri, Mehul; Tamhankar, Parag M; Sheth, Frenny; Sanghavi, Daksha; Kondurkar, Pratima; Patil, Swapnil; Idicula-Thomas, Susan; Gupta, Sarita; Sheth, Jayesh

    2012-01-01

    Tay Sachs disease (TSD) is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. The mutations leading to Tay Sachs disease in India are yet unknown. We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene. The clinical inclusion criteria included neuroregression, seizures, exaggerated startle reflex, macrocephaly, cherry red spot on fundus examination and spasticity. Neuroimaging criteria included thalamic hyperdensities on CT scan/T1W images of MRI of the brain. Biochemical criteria included deficiency of hexosaminidase A (less than 2% of total hexosaminidase activity for infantile patients). Total leukocyte hexosaminidase activity was assayed by 4-methylumbelliferyl-N-acetyl-β-D-glucosamine lysis and hexosaminidase A activity was assayed by heat inactivation method and 4-methylumbelliferyl-N-acetyl-β-D-glucosamine-6-sulphate lysis method. The exons and exon-intron boundaries of the HEXA gene were bidirectionally sequenced using an automated sequencer. Mutations were confirmed in parents and looked up in public databases. In silico analysis for mutations was carried out using SIFT, Polyphen2, MutationT@ster and Accelrys Discovery Studio softwares. Fifteen families were included in the study. We identified six novel missense mutations, c.340 G>A (p.E114K), c.964 G>A (p.D322N), c.964 G>T (p.D322Y), c.1178C>G (p.R393P) and c.1385A>T (p.E462V), c.1432 G>A (p.G478R) and two previously reported mutations. c.1277_1278insTATC and c.508C>T (p.R170W). The mutation p.E462V was found in six unrelated families from Gujarat indicating a founder effect. A previously known splice site mutation c.805+1 G>C and another intronic mutation c.672+30 T>G of unknown significance were also identified. Mutations could not be identified in one family. We conclude that TSD patients from Gujarat should be screened for the common mutation p.E462V.

  20. Von der Vielfalt einer Institution

    OpenAIRE

    Kabaum, Marcel; Buck, Marc Fabian

    2013-01-01

    Von der Vielfalt von Universitäten bzw. higher education institutions (HEIs) zu sprechen heißt, sich dem Dickicht an Komplexität zu stellen, das sich zwischen ihren Ideen und Realitäten ausbreitet. Der Text führt in den Sammelband "Ideen und Realitäten von Universitäten" ein und hebt die verschiedenen disziplinären Sichtweisen sowie die internationale Breite - Deutschland, Südamerika, USA, Afghanistan und China - der Beiträge hervor. (DIPF/Orig.)

  1. Alejandro Von Humboldt

    Directory of Open Access Journals (Sweden)

    Gerardo Paz Otero

    1965-09-01

    Full Text Available Diverso fue y sigue siéndolo, el destino de los dos hermanos Humboldt, Guillermo y Alejandro. Sino que se inicia con el nacimiento: Guillermo, el mayor, nace el 22 de junio de 1767 en Potsdam, residencia de los emperadores prusianos, la ciudad de los palacios imperiales, el imperio del militarismo germano; su cuna se meció cerca al palacete de Sans-Soussi, donde Federico el Grande forja ba el poderío de Prusia, cultivaba las ciencias y las artes, anfitrionaba a los intelectuales de Europa, y era "vasallo espiritual de Volta ire", según la aguda frase de Goethe. Alejandro viene al mundo dos años después (14 de septiembre de 1769 en Berlín, en la casa burguesa de la Jagerstrasse (calle del cazador que su madre Elizabeth von Humboldt heredara de su primer esposo.

  2. Three novel mutations in Iranian patients with Tay-Sachs disease.

    Science.gov (United States)

    Jamali, Solmaz; Eskandari, Nasim; Aryani, Omid; Salehpour, Shadab; Zaman, Talieh; Kamalidehghan, Behnam; Houshmand, Massoud

    2014-01-01

    Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations.

  3. Adeno-Associated Virus Gene Therapy in a Sheep Model of Tay-Sachs Disease.

    Science.gov (United States)

    Gray-Edwards, Heather L; Randle, Ashley N; Maitland, Stacy A; Benatti, Hector R; Hubbard, Spencer M; Canning, Peter F; Vogel, Matthew B; Brunson, Brandon L; Hwang, Misako; Ellis, Lauren E; Bradbury, Allison M; Gentry, Atoska S; Taylor, Amanda R; Wooldridge, Anne A; Wilhite, Dewey R; Winter, Randolph L; Whitlock, Brian K; Johnson, Jacob A; Holland, Merilee; Salibi, Nouha; Beyers, Ronald J; Sartin, James L; Denney, Thomas S; Cox, Nancy R; Sena-Esteves, Miguel; Martin, Douglas R

    2018-03-01

    Tay-Sachs disease (TSD) is a fatal neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A (HexA). TSD also occurs in sheep, the only experimental model of TSD that has clinical signs of disease. The natural history of sheep TSD was characterized using serial neurological evaluations, 7 Tesla magnetic resonance imaging, echocardiograms, electrodiagnostics, and cerebrospinal fluid biomarkers. Intracranial gene therapy was also tested using AAVrh8 monocistronic vectors encoding the α-subunit of Hex (TSD α) or a mixture of two vectors encoding both the α and β subunits separately (TSD α + β) injected at high (1.3 × 10 13 vector genomes) or low (4.2 × 10 12 vector genomes) dose. Delay of symptom onset and/or reduction of acquired symptoms were noted in all adeno-associated virus-treated sheep. Postmortem evaluation showed superior HexA and vector genome distribution in the brain of TSD α + β sheep compared to TSD α sheep, but spinal cord distribution was low in all groups. Isozyme analysis showed superior HexA formation after treatment with both vectors (TSD α + β), and ganglioside clearance was most widespread in the TSD α + β high-dose sheep. Microglial activation and proliferation in TSD sheep-most prominent in the cerebrum-were attenuated after gene therapy. This report demonstrates therapeutic efficacy for TSD in the sheep brain, which is on the same order of magnitude as a child's brain.

  4. Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.

    Science.gov (United States)

    Altarescu, Gheona; Brooks, Barry; Margalioth, Ehud; Eldar Geva, Talia; Levy-Lahad, Ephrat; Renbaum, Paul

    2007-07-01

    Preimplantation genetic diagnosis (PGD) for single gene defects is described for a family in which each parent is a carrier of both Tay-Sachs (TS) and Gaucher disease (GD). A multiplex fluorescent polymerase chain reaction protocol was developed that simultaneously amplified all four familial mutations and 10 informative microsatellite markers. In one PGD cycle, seven blastomeres were analysed, reaching a conclusive diagnosis in six out of seven embryos for TS and in five out of seven embryos for GD. Of the six diagnosed embryos, one was wild type for both TS and GD, and three were wild type for GD and carriers of TS. Two remaining embryos were compound heterozygotes for TS. Two transferable embryos developed into blastocysts (wt/wt and wt GD/carrier TS) and both were transferred on day 5. This single cycle of PGD resulted in a healthy live child. Allele drop-out (ADO) was observed in three of 34 reactions, yielding an 8% ADO rate. The occurrence of ADO in single cell analysis and undetected recombination events are primary causes of misdiagnosis in PGD and emphasize the need to use multiple polymorphic markers. So far as is known, this is the first report of concomitant PGD for two frequent Ashkenazi Jewish recessive disorders.

  5. Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-Sachs heterozygotes during pregnancy

    International Nuclear Information System (INIS)

    Nguyen, C.; Gold, R.J.M.; Mahuran, D.; Lowden, J.A.

    1981-01-01

    Tay-Sachs disease results from a loss of activity of hexosaminidase A (HEX A) in body tissues and fluids. Heterozygotes for the disease are usually identified by their relatively low ratio of heat-labile HEX A to total hexosaminidase. During pregnancy an intermediate isoenzyme (HEX I) increases in activity in serum and obscures the heterozygote status. HEX I does not increase in leucocytes, tears and other body tissues but because of technical difficulties in these assays the authors examined the feasibility of using a radioimmunoassay for HEX A. By univariate analysis, the heat denaturation assay gave a lower cost of misclassification for non-pregnant normals while RIA did so for pregnant normals. A combination of both tests led to reduced cost of misclassification compared to either alone. Bayesian analysis of bivariate gaussian density functions for heat denaturation and for radioimmunoassays of HEX isoenzymes was employed to calculate misclassification frequencies. Among the parameters examined, HEX A measured by RIA and % HEX A by heat-denaturation assay were the two having the best discriminatory power. (Auth.)

  6. High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up.

    Science.gov (United States)

    Curd, Helen; Lewis, Sharon; Macciocca, Ivan; Sahhar, Margaret; Petrou, Vicki; Bankier, Agnes; Lieberman, Sari; Levy-Lahad, Ephrat; Delatycki, Martin B

    2014-04-01

    The Melbourne high school Tay-Sachs disease (TSD) carrier screening program began in 1997. The aim of this study was to assess the outcomes of this screening program among those who had testing more than 5 years ago, to evaluate the long-term impact of screening. A questionnaire was used for data collection and consisted of validated scales and purposively designed questions. Questionnaires were sent to all carriers and two non-carriers for each carrier who were screened in the program between 1999 and 2005. Twenty-four out of 69 (34.8 %) carriers and 30/138 (21.7 %) non-carriers completed the questionnaire. Most participants (82 %) retained good knowledge of TSD and there was no evidence of a difference in knowledge between carriers and non-carriers. Most participants (83 %) were happy with the timing and setting of screening and thought that education and screening for TSD should be offered during high school. There was no difference between carriers and non-carriers in mean scores for the State Trait Anxiety Inventory and Decision Regret Scale. This evaluation indicated that 5-11 years post high school screening, those who were screened are supportive of the program and that negative consequences are rare.

  7. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population

    Energy Technology Data Exchange (ETDEWEB)

    McDowell, G.A.; Blitzer, M.G. (Univ. of Maryland School of Medicine, Baltimore, MD (United States)); Mules, E.H. (Kennedy Krieger Institute, Baltimore, MD (United States)); Fabacher, P. (Office of Public Health, Shreveport, LA (United States)); Shapira, E. (Tulane Univ. of School of Medicine, New Orleans, LA (United States))

    1992-11-01

    A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the [beta]-hexosaminidase A (Hex A) [alpha]-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of the [alpha]-subunit intron 9. To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers. A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion. Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population. In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families. 29 refs., 4 figs.

  8. Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.

    Science.gov (United States)

    Lew, Raelia M; Burnett, Leslie; Proos, Anné L; Barlow-Stewart, Kristine; Delatycki, Martin B; Bankier, Agnes; Aizenberg, Harry; Field, Michael J; Berman, Yemima; Fleischer, Ronald; Fietz, Michael

    2015-03-01

    Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective means of primary prevention of TSD, are cost effective and safe. However, in the broader Australian community TSD screening is not systematically performed and cases still occur in unscreened AJ individuals. In order to improve the effectiveness of Australian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk. We performed a systematic review of the relevant literature relating to AJ pre-conception and antenatal screening for TSD. The evidence was assessed using an established National Health and Medical Research Council evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost-benefit and cost-utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  9. Spontaneous appearance of Tay-Sachs disease in an animal model.

    Science.gov (United States)

    Zeng, B J; Torres, P A; Viner, T C; Wang, Z H; Raghavan, S S; Alroy, J; Pastores, G M; Kolodny, E H

    2008-01-01

    Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of beta-hexosaminidase A (Hex A). Deficiency of Hex A in TSD is caused by a defect of the alpha-subunit resulting from mutations of the HEXA gene. To date, there is no effective treatment for TSD. Animal models of genetic diseases, similar to those known to exist in humans, are valuable and essential research tools for the study of potentially effective therapies. However, there is no ideal animal model of TSD available for use in therapeutic trials. In the present study, we report an animal model (American flamingo; Phoenicopterus ruber) of TSD with Hex A deficiency occurring spontaneously in nature, with accumulation of G(M2)-ganglioside, deficiency of Hex A enzymatic activity, and a homozygous P469L mutation in exon 12 of the hexa gene. In addition, we have isolated the full-length cDNA sequence of the flamingo, which consists of 1581 nucleotides encoding a protein of 527 amino acids. Its coding sequence indicates approximately 71% identity at the nucleotide level and about 72.5% identity at the amino acid level with the encoding region of the human HEXA gene. This animal model, with many of the same features as TSD in humans, could represent a valuable resource for investigating therapy of TSD.

  10. Integrated Sachs-Wolfe effect versus redshift test for the cosmological parameters

    Science.gov (United States)

    Kantowski, R.; Chen, B.; Dai, X.

    2015-04-01

    We describe a method using the integrated Sachs-Wolfe (ISW) effect caused by individual inhomogeneities to determine the cosmological parameters H0, Ωm , and ΩΛ, etc. This ISW-redshift test requires detailed knowledge of the internal kinematics of a set of individual density perturbations, e.g., galaxy clusters and/or cosmic voids, in particular their density and velocity profiles, and their mass accretion rates. It assumes the density perturbations are isolated and embedded (equivalently compensated) and makes use of the newly found relation between the ISW temperature perturbation of the cosmic microwave background (CMB) and the Fermat potential of the lens. Given measurements of the amplitudes of the temperature variations in the CMB caused by such clusters or voids at various redshifts and estimates of their angular sizes or masses, one can constrain the cosmological parameters. More realistically, the converse is more likely, i.e., if the background cosmology is sufficiently constrained, measurement of ISW profiles of clusters and voids (e.g., hot and cold spots and rings) can constrain dynamical properties of the dark matter, including accretion, associated with such lenses and thus constrain the evolution of these objects with redshift.

  11. Kleben von Kunststoff mit Metall

    CERN Document Server

    Brockmann, W; Käufer, H

    1989-01-01

    Das Buch behandelt das Kleben von Kunststoffen mit Metallen in einer fur den Praktiker verstandlichen und umsetzbaren Form. Es leitet zu Klebeverfahren an, die optimale Ergebnisse hinsichtlich Qualitat, Dauerhaftigkeit und Wirtschaftlichkeit liefern.

  12. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

    Science.gov (United States)

    Chamoles, Néstor A; Blanco, Mariana; Gaggioli, Daniela; Casentini, Carina

    2002-04-01

    Tay-Sachs disease (TSD), Sandhoff disease (SD) and variants are caused by deficient activity of the lysosomal enzymes hexosaminidase A (HA) and total hexosaminidase (TH) (hexosaminidase A plus B), respectively. For diagnosis, these enzymes are usually measured in plasma or extracts of leukocytes. We describe methods for the assay of hexosaminidase A and total hexosaminidase activities in dried blood spots (DBSs) on filter paper. We studied 163 healthy controls, 9 Tay-Sachs patients, 4 Sandhoff patients, 18 obligate carriers and the newborn-screening cards from two patients with Tay-Sachs and one patient with Sandhoff disease. To tubes containing a 3-mm-diameter blood spot, we added elution liquid and substrate solution. After incubation at 37 degrees C, the amount of hydrolyzed product was compared with a calibrator to allow the quantification of enzyme activity. The described methodology is useful to distinguish patients with Tay-Sachs disease or Sandhoff disease from carriers and controls using samples that are sufficiently stable to be transported to the testing laboratory by mail. The diagnosis of both diseases from a newborn-screening card (NSC) was clearly demonstrated, even after storage for up to 38 months at room temperature. The newborn-screening card has been added to the biological materials that allow the identification of patients with Tay-Sachs disease and Sandhoff disease.

  13. Richard von Volkmann

    Science.gov (United States)

    Willy, Christian; Schneider, Peter; Engelhardt, Michael; Hargens, Alan R.

    2008-01-01

    Richard von Volkmann (1830–1889), one of the most important surgeons of the 19th century, is regarded as one of the fathers of orthopaedic surgery. He was a contemporary of Langenbeck, Esmarch, Lister, Billroth, Kocher, and Trendelenburg. He was head of the Department of Surgery at the University of Halle, Germany (1867–1889). His popularity attracted doctors and patients from all over the world. He was the lead physician for the German military during two wars. From this experience, he compared the mortality of civilian and war injuries and investigated the general poor hygienic conditions in civilian hospitals. This led him to introduce the “antiseptic technique” to Germany that was developed by Lister. His powers of observation and creativity led him to findings and achievements that to this day bear his name: Volkmann’s contracture and the Hueter-Volkmann law. Additionally, he was a gifted writer; he published not only scientific literature but also books of children’s fairy tales and poems under the pen name of Richard Leander, assuring him a permanent place in the world of literature as well as orthopaedics. PMID:18196438

  14. Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population

    Directory of Open Access Journals (Sweden)

    Anaita Udwadia-Hegde MD, DCH, MRCPCH

    2017-01-01

    Full Text Available Background: Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. Patient: We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental regression starting at the age of three, initially with motor followed by language regression. She is currently incapacitated with severe behavioral issues. Conclusion: This brief communication gives an insight into the efficacy of pharmacological chaperones. It also describes two unreported mutations in hexosaminidase A gene from the Indian population. After commencing Pyrimethamine, though initial benefits with increase in levels corresponded with briefly halting the motor regression, the observed increase was only transient and not associated with discernible beneficial neurological or psychiatric effects.

  15. Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.

    Science.gov (United States)

    Udwadia-Hegde, Anaita; Hajirnis, Omkar

    2017-01-01

    Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental regression starting at the age of three, initially with motor followed by language regression. She is currently incapacitated with severe behavioral issues. This brief communication gives an insight into the efficacy of pharmacological chaperones. It also describes two unreported mutations in hexosaminidase A gene from the Indian population. After commencing Pyrimethamine, though initial benefits with increase in levels corresponded with briefly halting the motor regression, the observed increase was only transient and not associated with discernible beneficial neurological or psychiatric effects.

  16. The effect of a combined glenoid and Hill-Sachs defect on glenohumeral stability: a biomechanical cadaveric study using 3-dimensional modeling of 142 patients.

    Science.gov (United States)

    Arciero, Robert A; Parrino, Anthony; Bernhardson, Andrew S; Diaz-Doran, Vilmaris; Obopilwe, Elifho; Cote, Mark P; Golijanin, Petr; Mazzocca, Augustus D; Provencher, Matthew T

    2015-06-01

    Bone loss in anterior glenohumeral instability occurs on both the glenoid and the humerus; however, existing biomechanical studies have evaluated glenoid and humeral head defects in isolation. Thus, little is known about the combined effect of these bony lesions in a clinically relevant model on glenohumeral stability. The purpose of this study was to determine the biomechanical efficacy of a Bankart repair in the setting of bipolar (glenoid and humeral head) bone defects determined via computer-generated 3-dimensional (3D) modeling of 142 patients with recurrent anterior shoulder instability. The null hypothesis was that adding a bipolar bone defect will have no effect on glenohumeral stability after soft tissue Bankart repair. Controlled laboratory study. A total of 142 consecutive patients with recurrent anterior instability were analyzed with 3D computed tomography scans. Two Hill-Sachs lesions were selected on the basis of volumetric size representing the 25th percentile (0.87 cm(3); small) and 50th percentile (1.47 cm(3); medium) and printed in plastic resin with a 3D printer. A total of 21 cadaveric shoulders were evaluated on a custom shoulder-testing device permitting 6 degrees of freedom, and the force required to translate the humeral head anteriorly 10 mm at a rate of 2.0 mm/s with a compressive load of 50 N was determined at 60° of glenohumeral abduction and 60° of external rotation. All Bankart lesions were made sharply from the 2- to 6-o'clock positions for a right shoulder. Subsequent Bankart repair with transosseous tunnels using high-strength suture was performed. Hill-Sachs lesions were made in the cadaver utilizing a plastic mold from the exact replica off the 3D printer. Testing was conducted in the following sequence for each specimen: (1) intact, (2) posterior capsulotomy, (3) Bankart lesion, (4) Bankart repair, (5) Bankart lesion with 2-mm glenoid defect, (6) Bankart repair, (7) Bankart lesion with 2-mm glenoid defect and Hill-Sachs lesion

  17. Magnification-temperature correlation: The dark side of integrated Sachs-Wolfe measurements

    International Nuclear Information System (INIS)

    LoVerde, Marilena; Hui, Lam; Gaztanaga, Enrique

    2007-01-01

    Integrated Sachs-Wolfe (ISW) measurements, which involve cross-correlating the microwave background anisotropies with the foreground large-scale structure (e.g. traced by galaxies/quasars), have proven to be an interesting probe of dark energy. We show that magnification bias, which is the inevitable modulation of the foreground number counts by gravitational lensing, alters both the scale dependence and amplitude of the observed ISW signal. This is true especially at high redshifts because (1) the intrinsic galaxy-temperature signal diminishes greatly back in the matter-dominated era, (2) the lensing efficiency increases with redshift and (3) the number count slope generally steepens with redshift in a magnitude limited sample. At z > or approx. 2, the magnification-temperature correlation dominates over the intrinsic galaxy-temperature correlation and causes the observed ISW signal to increase with redshift, despite dark energy subdominance--a result of the fact that magnification probes structures all the way from the observer to the sources. Ignoring magnification bias therefore can lead to (significantly) erroneous conclusions about dark energy. While the lensing modulation opens up an interesting high z window for ISW measurements, high redshift measurements are not expected to add much new information to low redshift ones if dark energy is indeed the cosmological constant. This is because lensing introduces significant covariance across redshifts. The most compelling reasons for pursuing high redshift ISW measurements are to look for potential surprises such as early dark energy domination or signatures of modified gravity. We conclude with a discussion of existing measurements, the highest redshift of which is at the margin of being sensitive to the magnification effect. We also develop a formalism which might be of more general interest: to predict biases in estimating parameters when certain physical effects are ignored in interpreting observations

  18. Updated tomographic analysis of the integrated Sachs-Wolfe effect and implications for dark energy

    Science.gov (United States)

    Stölzner, Benjamin; Cuoco, Alessandro; Lesgourgues, Julien; Bilicki, Maciej

    2018-03-01

    We derive updated constraints on the integrated Sachs-Wolfe (ISW) effect through cross-correlation of the cosmic microwave background with galaxy surveys. We improve with respect to similar previous analyses in several ways. First, we use the most recent versions of extragalactic object catalogs, SDSS DR12 photometric redshift (photo-z ) and 2MASS Photo-z data sets, as well as those employed earlier for ISW, SDSS QSO photo-z and NVSS samples. Second, we use for the first time the WISE × SuperCOSMOS catalog, which allows us to perform an all-sky analysis of the ISW up to z ˜0.4 . Third, thanks to the use of photo-z s , we separate each data set into different redshift bins, deriving the cross-correlation in each bin. This last step leads to a significant improvement in sensitivity. We remove cross-correlation between catalogs using masks which mutually exclude common regions of the sky. We use two methods to quantify the significance of the ISW effect. In the first one, we fix the cosmological model, derive linear galaxy biases of the catalogs, and then evaluate the significance of the ISW using a single parameter. In the second approach we perform a global fit of the ISW and of the galaxy biases varying the cosmological model. We find significances of the ISW in the range 4.7 - 5.0 σ thus reaching, for the first time in such an analysis, the threshold of 5 σ . Without the redshift tomography we find a significance of ˜4.0 σ , which shows the importance of the binning method. Finally we use the ISW data to infer constraints on the dark energy redshift evolution and equation of state. We find that the redshift range covered by the catalogs is still not optimal to derive strong constraints, although this goal will be likely reached using future datasets such as from Euclid, LSST, and SKA.

  19. Serial CT scans and MRI scans of Tay-Sachs disease

    International Nuclear Information System (INIS)

    Shimoizumi, Hideo; Miyao, Masutomo; Ichihashi, Koh; Sawa, Rituko; Yamamoto, Yoshifumi; Tanaka, Osamu; Yanagisawa, Masayoshi; Kamoshita, Shigehiko.

    1986-01-01

    Serial X-ray CT and MRI were performed on 2 cases of Tay-Sachs disease. Case 1 : a 3-year-10-month-old girl. Her developmental milestones were normal until the age of 6 months. At the age of 10 months, hypotonia and unduly sensitiveness to sounds were noticed. She had cherry red spots in both fundi, and the serum hexosaminidase A activity was low. Significant clinical features during the next 3 years included regression of developmental milestones to the level of one month, and myoclonic and generalised seizures. After 3 years she showed megalencephaly, unstable body temperature, and respiratory disorders. Case 2 : a 2-year-6-month-old boy. His developmental milestones were normal until the age of 5 months. Then he manifested hyperreaction to noises and further developments ceased. He started to deteriorate from the age of 1 year and 2 months, and had no head control at the age of 1 year and 6 months. Cherry red spots were detected and the serum hexsosaminidase A activity was low, too. X-ray CT at the early stage of cases 1 and 2 showed mild cerebral atrophy and high density areas in bilateral thalami and basal ganglia. At the late stage of Case 1, high density areas appeared in occipital and frontal white matters. MRI in both patients were strikingly similar. In their grey matters, linear light areas were demonstrated on IR images. Their white matters showed extensive dark (long T 1 ) areas on IR images, and extensive light (long T 2 ) areas on SE images. Bilateral thalami and basal ganglia were light on IR images and dark on SE images. The findings of MRI in our patients seemed to correlate well with pathological and biochemical changes in their brains. (author)

  20. Characterization of inducible models of Tay-Sachs and related disease.

    Science.gov (United States)

    Sargeant, Timothy J; Drage, Deborah J; Wang, Susan; Apostolakis, Apostolos A; Cox, Timothy M; Cachón-González, M Begoña

    2012-09-01

    Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system. The molecular events that lead to irreversible neuronal injury accompanied by gliosis are unknown; but gene transfer, when undertaken before neurological signs are manifest, effectively rescues the acute neurodegenerative illness in Hexb-/- (Sandhoff) mice that lack β-hexosaminidases A and B. To define determinants of therapeutic efficacy and establish a dynamic experimental platform to systematically investigate cellular pathogenesis of GM2 gangliosidosis, we generated two inducible experimental models. Reversible transgenic expression of β-hexosaminidase directed by two promoters, mouse Hexb and human Synapsin 1 promoters, permitted progression of GM2 gangliosidosis in Sandhoff mice to be modified at pre-defined ages. A single auto-regulatory tetracycline-sensitive expression cassette controlled expression of transgenic Hexb in the brain of Hexb-/- mice and provided long-term rescue from the acute neuronopathic disorder, as well as the accompanying pathological storage of glycoconjugates and gliosis in most parts of the brain. Ultimately, late-onset brainstem and ventral spinal cord pathology occurred and was associated with increased tone in the limbs. Silencing transgenic Hexb expression in five-week-old mice induced stereotypic signs and progression of Sandhoff disease, including tremor, bradykinesia, and hind-limb paralysis. As in germline Hexb-/- mice, these neurodegenerative manifestations advanced rapidly, indicating that the pathogenesis and progression of GM2 gangliosidosis is not influenced by developmental events in the maturing nervous system.

  1. Transient HEXA expression in a transformed human fetal Tay-Sachs disease neuroglial cell line

    Energy Technology Data Exchange (ETDEWEB)

    Fernandes, M.J.; Hechtman, P.; Kaplan, F. [McGill Univ., Quebec (Canada)] [and others

    1994-09-01

    Tay-Sachs disease (TSD) is a severe neurodegenerative disorder characterized by the accumulation of GM{sub 2} ganglioside in the neurons of the central cortex. The recessively inherited disorder results from deficiency of hexosaminidase A (Hex A), a heterodimer of an {alpha} and {beta} subunit encoded by the HEXA and HEXB genes. Expression of HEXA mutations in COS cells has several disadvantages including high endogenous hexosaminidase activity. We report a new transient expression system with very low endogenous Hex A activity. An SV40-transformed fetal TSD neuroglial cell line was assessed for transient expression of the HEXA gene. pCMV{alpha}, a vector incorporating the cytomegalovirus promoter with the human {alpha}-subunit cDNA insert, proved to be the most efficient expression vector. Transfection of 4x10{sup 6} cells with 5-20 {mu}g of plasmid resulted in 100 to 500-fold Hex A activity (4MUGS hydrolysis) relative to mock-transfected cells. Use of pCMV{beta}-Gal as a control for transfection efficiency indicated that 10-20% of cells were transfected. Hex A specific activity increased for at least 72 h post-transfection. This new transient expression system should greatly improve the characterization of mutations in which low levels of HEXA expression result in milder clinical phenotypes and permit studies on enzymatic properties of mutant forms of Hex A. Since the cells used are of CNS origin and synthesize gangliosides, it should also be possible to study, in culture, the metabolic phenotype associated with TSD.

  2. Molecular characterization of both alleles in an unusual Tay-Sachs disease BI variant

    Energy Technology Data Exchange (ETDEWEB)

    Coulter-Mackie, M.B. (Univ. of Western Ontario, London (Canada) Child Health Research Institute, Children' s Hospital of Western Ontario, London (Canada) Child Parent Resource Institute, London, Ontario (Canada))

    1994-06-01

    In a recent report, the authors described an exon 6 mutation in a Tay-Sachs B1 variant patient, first reported by Gordon et al. (1988), who displayed a typical B1 variant biochemical phenotype - i.e., (a) significant levels of hexosaminidase A (Hex A) activity in an assay with a neutral synthetic substrate, 4-methylumbelliferyl-[beta]-N-acetylglucosamide, and (b) <2% of control Hex A in a test on the sulfated substrate, 4-methylumbelliferyl-[beta]-N-acetylglucosamide-6-sulfate. The patient was found to carry a double mutation (G[sub 574][yields]C [val[sub 192][yields]leu] and G[sub 598][yields]A [val[sub 200][yields]met]) inherited from her mother. Only the 574 mutation produced a deleterious effect on Hex A activity in transfected COS0-1 cells, producing a B1 variant biochemical phenotype. The paternal allele apparently caused decreased abundance of mRNA, since no candidate paternal mutations were found in cloned reverse transcription-PCR (RT-PCR) products in the reported study. The biochemical phenotype of the original patient and the properties of the cDNA carrying the G[sub 574] [yields] C mutation in transient expression studies were compatible with a B1 variant mutation. The possibility remained that there might be some contribution from the paternal allele to the patient's phenotype. However, the paternal allele produces relatively low yields of a largely mis-spliced mRNA whose product would not be functional. Therefore, the G[sub 574] [yields] C (val[yields]leu) mutation in the maternal allele is clearly confirmed as a B1 variant mutation with all the ramifications for the substrate binding site and/or catalytic center that this implies.

  3. Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.

    Science.gov (United States)

    Lew, Raelia M; Proos, Anne L; Burnett, Leslie; Delatycki, Martin; Bankier, Agnes; Fietz, Michael J

    2012-12-10

    To evaluate the outcomes of preconception screening of Jewish Australians for Tay Sachs disease (TSD) carrier status on Jewish TSD-affected births. Epidemiological observational study involving a complete retrospective audit of infantile and intermediate TSD cases diagnosed in Sydney and Melbourne between 1 January 1995 and 31 December 2011 (Royal Children's Hospital Melbourne; Pacific Laboratory Medicine Services, Pathology North, NSW Health Pathology, Sydney; Victorian Clinical Genetics Services, Melbourne; and SA Pathology, Adelaide), and carrier frequency among Jewish high school students attending schools participating in TSD screening programs over the same period. Jewish TSD carrier frequency; and expected versus observed Jewish TSD-affected births. The 2006 Census indicated that most of the total 88,826 Jewish Australians live in Melbourne (46%) and Sydney (40%). The 7,756 Jewish high school students screened for TSD in Sydney and Melbourne during the study period had a carrier frequency of one in 31 (3.26%; 95% CI, 2.89%-3.68%).The estimated expected number of TSD-affected births in Melbourne and Sydney in 1995-2011 was 4.1 for Jewish births and 7.4 for other births (a ratio of Jewish to non-Jewish births of 1:2). The actual number was 12 (four in Sydney and eight in Melbourne), of which two were Jewish (a ratio of Jewish to non-Jewish births of 1:5). This finding of fewer than expected Jewish TSD cases coincided with a period during which screening programs were operating. There have been no Jewish TSD-affected children born to parents who were screened previously. Community education, appreciation of autosomal recessive inheritance and genetic carrier screening before pregnancy are the likely factors in our finding of fewer than expected Jewish babies with TSD. Ongoing outcome monitoring must continue.

  4. Characterization of inducible models of Tay-Sachs and related disease.

    Directory of Open Access Journals (Sweden)

    Timothy J Sargeant

    2012-09-01

    Full Text Available Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system. The molecular events that lead to irreversible neuronal injury accompanied by gliosis are unknown; but gene transfer, when undertaken before neurological signs are manifest, effectively rescues the acute neurodegenerative illness in Hexb-/- (Sandhoff mice that lack β-hexosaminidases A and B. To define determinants of therapeutic efficacy and establish a dynamic experimental platform to systematically investigate cellular pathogenesis of GM2 gangliosidosis, we generated two inducible experimental models. Reversible transgenic expression of β-hexosaminidase directed by two promoters, mouse Hexb and human Synapsin 1 promoters, permitted progression of GM2 gangliosidosis in Sandhoff mice to be modified at pre-defined ages. A single auto-regulatory tetracycline-sensitive expression cassette controlled expression of transgenic Hexb in the brain of Hexb-/- mice and provided long-term rescue from the acute neuronopathic disorder, as well as the accompanying pathological storage of glycoconjugates and gliosis in most parts of the brain. Ultimately, late-onset brainstem and ventral spinal cord pathology occurred and was associated with increased tone in the limbs. Silencing transgenic Hexb expression in five-week-old mice induced stereotypic signs and progression of Sandhoff disease, including tremor, bradykinesia, and hind-limb paralysis. As in germline Hexb-/- mice, these neurodegenerative manifestations advanced rapidly, indicating that the pathogenesis and progression of GM2 gangliosidosis is not influenced by developmental events in the maturing nervous system.

  5. Probing the integrated Sachs-Wolfe effect using embedded lens models

    Science.gov (United States)

    Chen, B.; Kantowski, R.

    2015-04-01

    The photometry profile of the integrated Sachs-Wolfe (ISW) effect, recently obtained by the Planck consortium by stacking patches of cosmic microwave background (CMB) sky maps around a large number of cosmic voids, contains a cold ring at about half the void's effective radius surrounded by a hot ring near the void's boundary. The source of the temperature structure is assumed to be the ISW effect but the exact cause of the ringed structure is not currently well understood, particularly the outer hot ring. Numerical simulations have suggested that hot/cold ring structures can be produced by motions associated with nonlinear growths of cosmic structures whose gravitational potentials produce the ISW effect. We have recently developed the embedded lens theory and the Fermat potential formalism which can be used to model the ISW effect caused by intervening individual lens inhomogeneities evolving arbitrarily. This theory only requires knowledge of the void's projected mass profile as a function of the passing CMB photons' impact radius and the rate of change of that mass distribution at passage. We present two simple embedded void lens models with evolving mass densities and investigate the ISW effect caused by these lenses. Both models possess expanding mass shells which produce hot rings around central cold regions, consistent with the recent observations. By adding a small overdensity at the void's center we can produce the slight positive temperature excess hinted at in Planck's photometric results. We conclude that the embedded lens theory and the Fermat potential formalism is well suited for modeling the ISW effect.

  6. Embedded Lensing Time Delays, the Fermat Potential, and the Integrated Sachs-Wolfe Effect

    Science.gov (United States)

    Chen, Bin; Kantowski, Ronald; Dai, Xinyu

    2015-05-01

    We derive the Fermat potential for a spherically symmetric lens embedded in a Friedman-Lemaître-Robertson-Walker cosmology and use it to investigate the late-time integrated Sachs-Wolfe (ISW) effect, i.e., secondary temperature fluctuations in the cosmic microwave background (CMB) caused by individual large-scale clusters and voids. We present a simple analytical expression for the temperature fluctuation in the CMB across such a lens as a derivative of the lens’ Fermat potential. This formalism is applicable to both linear and nonlinear density evolution scenarios, to arbitrarily large density contrasts, and to all open and closed background cosmologies. It is much simpler to use and makes the same predictions as conventional approaches. In this approach the total temperature fluctuation can be split into a time-delay part and an evolutionary part. Both parts must be included for cosmic structures that evolve and both can be equally important. We present very simple ISW models for cosmic voids and galaxy clusters to illustrate the ease of use of our formalism. We use the Fermat potentials of simple cosmic void models to compare predicted ISW effects with those recently extracted from WMAP and Planck data by stacking large cosmic voids using the aperture photometry method. If voids in the local universe with large density contrasts are no longer evolving we find that the time delay contribution alone predicts values consistent with the measurements. However, we find that for voids still evolving linearly, the evolutionary contribution cancels a significant part of the time delay contribution and results in predicted signals that are much smaller than recently observed.

  7. Aggregation und Management von Metadaten im Kontext von Europeana

    Directory of Open Access Journals (Sweden)

    Gerda Koch

    2017-09-01

    Full Text Available Mit dem In-Beziehung-Setzen und Verlinken von Daten im Internet wird der Weg zur Umsetzung des semantischen Webs geebnet. Erst die semantische Verbindung von heterogenen Datenbeständen ermöglicht übergreifende Suchvorgänge und späteres „Machine Learning“. Im Artikel werden die Aktivitäten der Europäischen Digitalen Bibliothek im Bereich des Metadatenmanagements und der semantischen Verlinkung von Daten skizziert. Dabei wird einerseits ein kurzer Überblick zu aktuellen Forschungsschwerpunkten und Umsetzungsstrategien gegeben, und darüber hinaus werden einzelne Projekte und maßgeschneiderte Serviceangebote für naturhistorische Daten, regionale Kultureinrichtungen und Audiosammlungen beschrieben.

  8. Pathological alterations typical of human Tay-Sachs disease, in the retina of a deep-sea fish

    Science.gov (United States)

    Fishelson, L.; Delarea, Yacov; Galil, Bella S.

    Micrographs of retinas from the deep-sea fish Cataetyx laticeps revealed visual cells containing membranous whorls in the ellipsoids of the inner segments resulting from stretching and modifications of the mitochondria membranes and their cristae. These pathological structures seem to be homologous to the whorls observed in retinas of human carriers of Tay-Sachs disease. This disease, a genetic disorder, is found in humans and some mammals. Our findings in fish suggest that the gene responsible can be found throughout the vertebrate evolutionary tree, possibly dormant in most taxa.

  9. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

    Science.gov (United States)

    Haghighi, Alireza; Rezazadeh, Jamileh; Shadmehri, Azam Ahmadi; Haghighi, Amirreza; Kornreich, Ruth; Desnick, Robert J

    2011-09-01

    The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation.

  10. John von Neumann selected letters

    CERN Document Server

    2005-01-01

    John von Neuman was perhaps the most influential mathematician of the twentieth century, especially if his broad influence outside mathematics is included. Not only did he contribute to almost all branches of mathematics and created new fields, but he also changed post-World War II history with his work on the design of computers and with being a sought-after technical advisor to many figures in the U.S. military-political establishment in the 1940s and 1950s. The present volume is the first substantial collection of (previously mainly unpublished) letters written by von Neumann to colleagues, friends, government officials, and others. The letters give us a glimpse of the thinking of John von Neumann about mathematics, physics, computer science, science management, education, consulting, politics, and war. Readers of quite diverse backgrounds will find much of interest in this fascinating first-hand look at one of the towering figures of twentieth century science.

  11. Automatisierung von HiL Tests

    OpenAIRE

    Asbach, Lennart; Ebrecht, Lars

    2010-01-01

    Automatisierung von HiL Tests. Darstellung und Bewertung einer praktischen Umsetzung. Das Poster zeigt die Motivation, die Durchführung, einen aktuellen Stand und einen Ausblick der Testautomatisierung im Bahnlabor RailSiTe. Als Beispiel dient der Konformitätstest von ETCS-Onboard Zugrechnern, um die Einführung von ETCS zu unterstützen.

  12. Homopteren von Java, gesammelt von Herrn Edw. Jacobson

    NARCIS (Netherlands)

    Melichar, L.

    1914-01-01

    Herr Edw. Jacobson hat auf Java in den Jahren 1908— 1910 Homopteren gesammelt und mir die Bearbeitung des gesammelten Materiales übertragen. Die Jacobson’sche Ausbeute ist insoferne bemerkenswert, als dieselbe viele Mikrohomopteren enthält, welche von nichtfachkundigen Sammlern gewöhnlich nicht

  13. Serial MR imaging and 1H-MR spectroscopy in monozygotic twins with Tay-Sachs disease.

    Science.gov (United States)

    Imamura, A; Miyajima, H; Ito, R; Orii, K O

    2008-10-01

    Four-year-old monozygotic female twins with early onset Tay-Sachs disease are described. The sisters showed similar slowly progressive clinical symptoms and deterioration, however the younger sister also demonstrated intractable myoclonus in the right leg. The serial MR images and (1)H-MR spectroscopy of the brain were obtained in both twins. MR images showed high intensity on T (2)-weighted image in the bilateral white matter, however there were no signal changes in the basal ganglia and thalamus during any of the phases. The ratio of N-acetylaspartate (NAA)/creatine (Cr) was decreased in the both white matter lesions and the corpus striatum, and that of myoinositol (mI)/Cr was increased in the damaged white matter on MR spectroscopy. The elevation of the lactate peak was clearly demonstrated in the left basal ganglia of the younger sister; however it was not shown in cerebral lesions of the elder sister. Changes in metabolites on MR spectroscopy were closely linked to the respective clinical features of each twin. Follow-up examination by (1)H-MR spectroscopy is useful for the evaluation of neuronal changes in children with Tay-Sachs disease.

  14. Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

    Science.gov (United States)

    Stepien, Karolina M; Lum, Su Han; Wraith, J Edmond; Hendriksz, Christian J; Church, Heather J; Priestman, David; Platt, Frances M; Jones, Simon; Jovanovic, Ana; Wynn, Robert

    2017-12-07

    Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic stem cell transplantation (HSCT) with variable outcome.We describe a case of a 23-year-old male patient who presented with a long-standing tremor since 7 years of age. He had gait ataxia, a speech stammer and swallowing problems. His condition had had a static course apart from his tremor that had been gradually deteriorating. Because of the deterioration in his neurological function, the patient had an uneventful, matched-sibling donor bone marrow transplant at the age of 15 years. Eight years post-HSCT, at the age of 23, he retains full donor engraftment, and his white cell beta-HexA of 191 nmol/mg/h is comparable to normal controls (in-assay control = 187). He continues to experience some intentional tremor that is tolerable for daily life and nonprogressive since HSCT. HSCT is a potential treatment option which might arrest neurodegeneration in patients with LOTS.

  15. Crystal Structure of Human [Beta]-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay-Sachs Disease

    Energy Technology Data Exchange (ETDEWEB)

    Mark, Brian L.; Mahuran, Don J.; Cherney, Maia M.; Zhao, Dalian; Knapp, Spencer; James, Michael N.G.

    2010-12-01

    In humans, two major {beta}-hexosaminidase isoenzymes exist: Hex A and Hex B. Hex A is a heterodimer of subunits {alpha} and {beta} (60% identity), whereas Hex B is a homodimer of {beta}-subunits. Interest in human {beta}-hexosaminidase stems from its association with Tay-Sachs and Sandhoff disease; these are prototypical lysosomal storage disorders resulting from the abnormal accumulation of G{sub M2}-ganglioside (G{sub M2}). Hex A degrades G{sub M2} by removing a terminal N-acetyl-D-galactosamine ({beta}-GalNAc) residue, and this activity requires the G{sub M2}-activator, a protein which solubilizes the ganglioside for presentation to Hex A. We present here the crystal structure of human Hex B, alone (2.4 {angstrom}) and in complex with the mechanistic inhibitors GalNAc-isofagomine (2.2 {angstrom}) or NAG-thiazoline (2.5 {angstrom}). From these, and the known X-ray structure of the G{sub M2}-activator, we have modeled Hex A in complex with the activator and ganglioside. Together, our crystallographic and modeling data demonstrate how {alpha} and {beta}-subunits dimerize to form either Hex A or Hex B, how these isoenzymes hydrolyze diverse substrates, and how many documented point mutations cause Sandhoff disease ({beta}-subunit mutations) and Tay-Sachs disease ({alpha}-subunit mutations).

  16. Influence of defect size and localization on the engagement of reverse Hill-Sachs lesions.

    Science.gov (United States)

    Moroder, Philipp; Runer, Armin; Kraemer, Manuel; Fierlbeck, Johann; Niederberger, Alfred; Cotofana, Sebastian; Vasvari, Imre; Hettegger, Bernhard; Tauber, Mark; Hurschler, Christof; Resch, Herbert

    2015-03-01

    Reverse Hill-Sachs (RHS) lesions can cause recurrent posterior shoulder instability because of engagement with the posterior glenoid rim; however, the effect of defect size and localization have yet to be determined. Both size and localization are critical for the engagement of an RHS defect with the posterior glenoid rim. Controlled laboratory study. Ten RHS defects with predefined extent and localization were created through an anterolateral rotator cuff sparing approach in 10 fresh-frozen cadaveric shoulder specimens using a custom-made saw guide. Computed tomography scans of all specimens were completed, and standardized measurements were performed to determine the size (alpha angle) and localization (beta angle) of the defect as well as a combination of both parameters (gamma angle). Internal rotation motions were imposed on the shoulder joint in different arm positions and with varying amount of posterior translation by means of a robot-assisted shoulder simulator. The association between engagement of the defects and the defined parameters (alpha, beta, and gamma angles) was analyzed. In 0° of abduction, a cutoff value between engaging and nonengaging defects of 37.5° for the alpha angle (100% sensitivity; 75% specificity; area under the curve [AUC], 0.875; P = .055) and 36.5° for the beta angle (100% sensitivity; 25% specificity; AUC, 0.708; P = .286) was determined. The gamma angle showed the highest discriminatory power (AUC, 0.938; P = .025) with a cutoff value of 85.5° rendering 100% sensitivity and 75% specificity in the prediction of engagement. An increase in the applied posterior translation force decreased the degrees of internal rotation necessary before engagement occurred. No engagement occurred during internal rotation with the arm in 60° of abduction or 60° of flexion. The size and localization of RHS defects are both critical factors for engagement. The combination of both parameters in terms of the gamma angle measurement might be a

  17. Properties of von Neumann entropy

    Indian Academy of Sciences (India)

    disentangled) as seen by moving observers, is used to investigate the properties of von Neumann entropy, as a measure of spin–momentum entanglement. To do so, we partition the total Hilbert space into momentum and spin subspaces so that the ...

  18. von Hippel-Lindau disease

    DEFF Research Database (Denmark)

    Binderup, Marie Louise Mølgaard; Gimsing, Steen; Kosteljanetz, Michael

    2013-01-01

    Endolymphatic sac tumours (ELSTs) of the inner ear occur in 16% of patients with the hereditary tumor syndrome von Hippel-Lindau disease (vHL). ELSTs of all sizes can cause irreversible hearing loss which can, however, be prevented through early diagnosis and treatment. We aim to emphasize the ch...

  19. Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program.

    Science.gov (United States)

    Gason, Alexandra A; Aitken, MaryAnne; Delatycki, Martin B; Sheffield, Edith; Metcalfe, Sylvia A

    2004-01-01

    Tay Sachs disease is a recessively inherited neurodegenerative disorder, for which carrier screening programs exist worldwide. Education for those offered a screening test is essential in facilitating informed decision-making. In Melbourne, Australia, we have designed, developed, and evaluated a computer-based instructional resource for use in the Tay Sachs disease carrier screening program for secondary school students attending Jewish schools. The resource entitled "Genetics in the Community: Tay Sachs disease" was designed on a platform of educational learning theory. The development of the resource included formative evaluation using qualitative data analysis supported by descriptive quantitative data. The final resource was evaluated within the screening program and compared with the standard oral presentation using a questionnaire. Knowledge outcomes were measured both before and after either of the educational formats. Data from the formative evaluation were used to refine the content and functionality of the final resource. The questionnaire evaluation of 302 students over two years showed the multimedia resource to be equally effective as an oral educational presentation in facilitating participants' knowledge construction. The resource offers a large number of potential benefits, which are not limited to the Tay Sachs disease carrier screening program setting, such as delivery of a consistent educational message, short delivery time, and minimum financial and resource commitment. This article outlines the value of considering educational theory and describes the process of multimedia development providing a framework that may be of value when designing genetics multimedia resources in general.

  20. [Friedrich Ludwig von Maydelli pildid Baltimaade ajaloost = Friedrich Ludwig von Maydells Baltische Geschichte in Bildern = Friedrich Ludwig von Maydell ́s Baltic history in images] / Ulrike Plath

    Index Scriptorium Estoniae

    Plath, Ulrike, 1972-

    2014-01-01

    Arvustus: Friedrich Ludwig von Maydelli pildid Baltimaade ajaloost = Friedrich Ludwig von Maydells Baltische Geschichte in Bildern = Friedrich Ludwig von Maydell ́s Baltic history in images. Eesti kunstimuuseum, Kadrioru kunstimuuseum. Tallinn 2013

  1. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.

    Science.gov (United States)

    Miklyaeva, Elena I; Dong, Weijia; Bureau, Alexandre; Fattahie, Roya; Xu, Yongqin; Su, Meng; Fick, Gordon H; Huang, Jing-Qi; Igdoura, Suleiman; Hanai, Nobuo; Gravel, Roy A

    2004-03-19

    Tay-Sachs disease is an autosomal recessive neurodegenerative disease resulting from a block in the hydrolysis of GM2 ganglioside, an intermediate in ganglioside catabolism. The mouse model of Tay-Sachs disease (Hexa -/-) has been described as behaviorally indistinguishable from wild type until at least 1 year of age due to a sialidase-mediated bypass of the metabolic defect that reduces the rate of GM2 ganglioside accumulation. In this study, we have followed our mouse model to over 2 years of age and have documented a significant disease phenotype that is reminiscent of the late onset, chronic form of human Tay-Sachs disease. Onset occurs at 11-12 months of age and progresses slowly, in parallel with increasing storage of GM2 ganglioside. The disease is characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, possible visual impairment, and, late in the disease, muscle weakness, clasping of the limbs, and myoclonic twitches of the head. Immunodetection of GM2 ganglioside showed that storage varies widely in different regions, but is most intense in pyriform cortex, hippocampus (CA3 field, subiculum), amygdala, hypothalamus (paraventricular supraoptic, ventromedial and arcuate nuclei, and mammilary body), and the somatosensory cortex (layer V) in 1- to 2-year-old mutant mice. We suggest that the Tay-Sachs mouse model is a phenotypically valid model of disease and may provide for a reliable indicator of the impact of therapeutic strategies, in particular geared to the late onset, chronic form of human Tay-Sachs disease.

  2. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: Evidence against a single defect within this ethnic group

    Energy Technology Data Exchange (ETDEWEB)

    Myerowitz, R. (National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD (USA))

    1988-06-01

    Tay-Sachs disease is an inherited disorder in which the {alpha} chain of the lysosomal enzyme {beta}-N-acetylhexosaminidase A bears the mutation. Ashkenazi Jews are found to be carriers for a severe type of Tay-Sachs disease, the classic form, 10 times more frequently than the general population. Ashkenazi Jewish patients with classic Tay-Sachs disease have appeared to be clinically and biochemically identical, and the usual assumption has been that they harbor the same {alpha}-chain mutation. The author has isolated the {alpha}-chain gene from an Ashkenazi Jewish patient, GM2968, with classic Tay-Sachs disease and compared its nucleotide sequences with that of the normal {alpha}-chain gene in the promoter region, exon and splice junction regions, and polyadenylylation signal area. Only one difference was observed between these sequences. The alteration is presumed to be functionally significant and to result in aberrant mRNA splicing. Utilizing the polymerase chain reaction to amplify the region encompassing the mutation, the author developed an assay to screen patients and heterozygote carriers for this mutation. Surprisingly, in each of two Ashkenazi patients, only one {alpha}-chain allele harbored the splice junction mutation. Only one parent of each of these patients was positive for the defect. Another Ashkenazi patient did not bear this mutation at all nor did either of the subject's parents. The data are consistent with the presence of more than one mutation underlying the classic form of Tay-Sachs disease in the Ashkenazi Jewish population.

  3. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: Evidence against a single defect within this ethnic group

    International Nuclear Information System (INIS)

    Myerowitz, R.

    1988-01-01

    Tay-Sachs disease is an inherited disorder in which the α chain of the lysosomal enzyme β-N-acetylhexosaminidase A bears the mutation. Ashkenazi Jews are found to be carriers for a severe type of Tay-Sachs disease, the classic form, 10 times more frequently than the general population. Ashkenazi Jewish patients with classic Tay-Sachs disease have appeared to be clinically and biochemically identical, and the usual assumption has been that they harbor the same α-chain mutation. The author has isolated the α-chain gene from an Ashkenazi Jewish patient, GM2968, with classic Tay-Sachs disease and compared its nucleotide sequences with that of the normal α-chain gene in the promoter region, exon and splice junction regions, and polyadenylylation signal area. Only one difference was observed between these sequences. The alteration is presumed to be functionally significant and to result in aberrant mRNA splicing. Utilizing the polymerase chain reaction to amplify the region encompassing the mutation, the author developed an assay to screen patients and heterozygote carriers for this mutation. Surprisingly, in each of two Ashkenazi patients, only one α-chain allele harbored the splice junction mutation. Only one parent of each of these patients was positive for the defect. Another Ashkenazi patient did not bear this mutation at all nor did either of the subject's parents. The data are consistent with the presence of more than one mutation underlying the classic form of Tay-Sachs disease in the Ashkenazi Jewish population

  4. Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

    Science.gov (United States)

    Colaianni, Alessandra; Chandrasekharan, Subhashini; Cook-Deegan, Robert

    2010-04-01

    Genetic testing for Tay-Sachs and Canavan disease is particularly important for Ashkenazi Jews, because both conditions are more frequent in that population. This comparative case study was possible because of different patenting and licensing practices. The role of DNA testing differs between Tay-Sachs and Canavan diseases. The first-line screening test for Tay-Sachs remains an enzyme activity test rather than genotyping. Genotyping is used for preimplantation diagnosis and confirmatory testing. In contrast, DNA-based testing is the basis for Canavan screening and diagnosis. The HEXA gene for Tay-Sachs was cloned at the National Institutes of Health, and the gene was patented but has not been licensed. The ASPA gene for Canavan disease was cloned and patented by Miami Children's Hospital. Miami Children's Hospital did not inform family members and patient groups that had contributed to the gene discovery that it was applying for a patent, and pursued restrictive licensing practices when a patent issued in 1997. This led to intense controversy, litigation, and a sealed, nonpublic 2003 settlement that apparently allowed for nonexclusive licensing. A survey of laboratories revealed a possible price premium for ASPA testing, with per-unit costs higher than for other genetic tests in the Secretary's Advisory Committee on Genetics, Health, and Society case studies. The main conclusion from comparing genetic testing for Tay-Sachs and Canavan diseases, however, is that patenting and licensing conducted without communication with patients and advocates cause mistrust and can lead to controversy and litigation, a negative model to contrast with the positive model of patenting and licensing for genetic testing of cystic fibrosis.

  5. [Knowledge of German neurologists on migraine around 1890. Paul Julius Möbius and his 1894 monograph Die Migräne].

    Science.gov (United States)

    Schobeß, C; Steinberg, H

    2013-08-01

    Paul Julius Möbius (1853-1907), a Leipzig-based author and editor on a vast majority of subjects, has often been acknowledged as a leading 19th-century German neurologist. His impact on the development of knowledge on migraine has likewise been pointed to. This study compares the monograph published by Möbius on the illness in 1894 with contemporary publications and with present day best practice to establish if the author really made an essential contribution to the problem of migraine. As a representative of the central theory Möbius assumed that migraine was caused by aberrations in the brain. At the same time he made it clear that due to very limited diagnostic options this was only a hypothesis. Apart from a genetic factor and these cerebral changes, for Möbius the general state of health was a decisive factor and prevention and change in lifestyle therefore played a crucial role in his therapeutic recommendations. Basically there were only few differences between the views of Möbius and his colleagues, the major dissimilarity being that Möbius postulated a merely suggestive impact but no physical effect of electrotherapy. Although Möbius's monograph on migraine lacks originality, it provides a concise, easy to understand and stylistically impressive overview on the state of knowledge at that time. Therefore, the book can be considered as a benchmark publication of German speaking neurology around 1890 on migraine and it is highly recommended to present day headache and migraine researchers as well as historians of psychiatry and neurology.

  6. La fotografía de Julius Shulman y la construcción de la imagen de la arquitectura del sur de California

    Directory of Open Access Journals (Sweden)

    Daniel Díez Martínez

    2014-10-01

    Full Text Available A Julius Shulman le correspondió, casi en exclusiva, la labor de cronista gráfico de la arquitectura moderna en el sur de California. Consciente de la dificultad de hacer ver al público la belleza de estas construcciones, Shulman desarrolló un lenguaje propio con un marcado sentido escenográfico, un encuentro entre la fotografía arquitectónica clásica y la publicidad contemporánea inspirada en la cultura pop en la que la colocación de los muebles en intervalos estratégicos, la iluminación, la elección y actitud de los modelos o la vegetación estaban cuidadosamente estudiados para guiar la vista del espectador hacia la arquitectura y el estilo de vida que de esta se desprendía. El artículo propone una visión transversal de la fotografía de Shulman y establece lazos entre su obra y la tensión política que se respiraba en los Estados Unidos de la Guerra Fría. Gracias a las “escenas” capturadas en sus fotografías, la arquitec­tura moderna californiana quedaría por siempre asociada al contexto creado por el fotógrafo, dando lugar a imágenes que el tiempo ha elevado a la categoría de iconos culturales del siglo XX. Como la arquitectura que retrataba, la fotografía se convirtió en una exaltación de la modernidad entendida como una nueva era de bienestar, prosperidad y progreso.

  7. Ernst Julius Öpik's (1916) note on the theory of explosion cratering on the Moon's surface—The complex case of a long-overlooked benchmark paper

    Science.gov (United States)

    Racki, Grzegorz; Koeberl, Christian; Viik, Tõnu; Jagt-Yazykova, Elena A.; Jagt, John W. M.

    2014-10-01

    High-velocity impact as a common phenomenon in planetary evolution was ignored until well into the twentieth century, mostly because of inadequate understanding of cratering processes. An eight-page note, published in Russian by the young Ernst Julius Öpik, a great Estonian astronomer, was among the key selenological papers, but due to the language barrier, it was barely known and mostly incorrectly cited. This particular paper is here intended to serve as an explanatory supplement to an English translation of Öpik's article, but also to document an early stage in our understanding of cratering. First, we outline the historical-biographical background of this benchmark paper, and second, a comprehensive discussion of its merits is presented, from past and present perspectives alike. In his theoretical research, Öpik analyzed the explosive formation of craters numerically, albeit in a very simple way. For the first time, he approximated relationships among minimal meteorite size, impact energy, and crater diameter; this scaling focused solely on the gravitational energy of excavating the crater (a "useful" working approach). This initial physical model, with a rational mechanical basis, was developed in a series of papers up to 1961. Öpik should certainly be viewed as the founder of the numerical simulation approach in planetary sciences. In addition, the present note also briefly describes Nikolai A. Morozov as a remarkable man, a forgotten Russian scientist and, surprisingly, the true initiator of Öpik's explosive impact theory. In fact, already between 1909 and 1911, Morozov probably was the first to consider conclusively that explosion craters would be circular, bowl-shaped depressions even when formed under different impact angles.

  8. An Expressionist Approach to JuliusCaesar%表现主义视域下的《裘里斯·凯撒》探析

    Institute of Scientific and Technical Information of China (English)

    仪爱松; 姜德成

    2014-01-01

    JuliusCaesaris a tradegy in which William Shakespeare starts to focus on the shocking effects of political and social events upon the audiences. Engaging multiple means to highlight the tragic environment and externalize characters’ mentality and sub-consciousness, Shakespeare is skillful in controlling both readers and audiences’ emotion and responses upon tragedy. From the perspective of Expressionism, this paper makes an approach to the forward-looking artistic achievement of Shakespeare in the play.%莎士比亚的悲剧《裘里斯·凯撒》迈出了其文学上“向内转”的第一步。剧中,莎翁借助异象、音效、鬼魂、幻觉以及预言等多种表现手段异化社会事件,外化人物的心理和潜意识,诉诸读者、观众的感观,其对于人性的探索得到深刻体现,产生强烈的悲剧效果,这与表现主义戏剧在本质上有异曲同工之处。从外部世界的异化与内心世界的外化两个方面分析探索剧中的表现主义因子,释解悲剧的心理诉求与表现主义艺术手段在剧中的结合,有助于了解作者前瞻性的戏剧表现艺术尝试。

  9. Pflege – eine Sache der ganzen Familie Care—An Issue for the Whole Family

    Directory of Open Access Journals (Sweden)

    Nicole Maly-Lukas

    2005-07-01

    Full Text Available Derzeit sind in der Bundesrepublik Deutschland ca. 2 Millionen Menschen pflegebedürftig. Etwa 1,4 Millionen werden im häuslichen Bereich – in der Regel von Familienmitgliedern gepflegt – z. T. mit professioneller Unterstützung. Die Familie ist also weiterhin „der größte Pflegedienst der Nation“. Und es sind hauptsächlich die Frauen, die sich für die Pflege von Familienmitgliedern verantwortlich fühlen. Gröning et al. möchten sich in ihrem Buch In guten wie in schlechten Tagen aber nicht auf die Belastungen der pflegenden Frauen beschränken. Sie stellen die Generationen- und Geschlechterbeziehungen, die einen großen Einfluss auf die familiäre Pflegebeziehung haben, in den Vordergrund. In dem Buch Pflegegeschichten kommen rund 40 pflegende Angehörige selbst zu Wort, indem sie ‚ihre‘ persönliche „Pflegegeschichte“ erzählen.At this time in the Federal Republic of Germany around two million people are in need of care. Around 1.4 million of these are cared for at home—for the most part by family members—partly with professional support. The family thus continues to be “the largest nursing service in the nation.” And it is mostly women who feel responsible for the care of family members. The editors do not wish to limit themselves only to the pressures on the care-giving women in their book In guten wie in schlechten Tagen (In Sickness and in Health. They place in the foreground generational and gendered relationships that have a great influence on familial nursing relationships. In the book Pflegegeschichten (Nursing Stories around 40 care-giving relatives speak for themselves by telling their “own” personal “nursing stories.”

  10. Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.

    Science.gov (United States)

    Liu, Zhong; Zhao, Rui

    2016-09-01

    Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers. This TSD patient-derived hiPSC line may serve as a valuable in vitro tool for disease modeling and drug test. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  11. Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient

    Directory of Open Access Journals (Sweden)

    Zhong Liu

    2016-09-01

    Full Text Available Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD. The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers. This TSD patient-derived hiPSC line may serve as a valuable in vitro tool for disease modeling and drug test.

  12. Time-dependent automorphism-inducing diffeomorphisms, open algebras and the generality of the Kantowski-Sachs vacuum geometry

    Science.gov (United States)

    Christodoulakis, T.; Papadopoulos, G. O.

    2002-10-01

    Following the spirit of a previous work of ours, we investigate the group of those general coordinate transformations (GCTs) which preserve manifest spatial homogeneity. In contrast to the case of Bianchi type models, here we permit an isometry group of motions G4 = SO(3) ⊗ Tr, where Tr is the translations group, along the radial direction, while SO(3) acts multiply transitively on each hypersurface of simultaneity Σt. The basis 1-forms cannot be invariant under the action of the entire isometry group and hence produce an open Lie algebra. In order for these GCTs to exist and have a nontrivial, well-defined action, certain integrability conditions have to be satisfied; their solutions, exhibiting the maximum expected 'gauge' freedom, can be used to simplify the generic, spatially homogeneous, line element. In this way an alternative proof of the generality of the Kantowski-Sachs (KS) vacuum is given, while its most general, manifestly homogeneous, form is explicitly presented.

  13. Shock, diaschisis and von Monakow

    Directory of Open Access Journals (Sweden)

    Eliasz Engelhardt

    2013-07-01

    Full Text Available The concept of shock apparently emerged in the middle of the 18th century (Whyett as an occurrence observed experimentally after spinal cord transection, and identified as "shock" phenomenon one century later (Hall. The concept was extended (Brown-Séquard and it was suggested that brain lesions caused functional rupture in regions distant from the injured one ("action à distance". The term "diaschisis" (von Monakow, proposed as a new modality of shock, had its concept broadened, underpinned by observations of patients, aiming at distinguishing between symptoms of focal brain lesions and transitory effects they produced, attributable to depression of distant parts of the brain connected to the injured area. Presently, diaschisis is related mainly to cerebrovascular lesions and classified according to the connection fibers involved, as proposed by von Monakow. Depression of metabolism and blood flow in regions anatomically separated, but related by connections with the lesion, allows observing diaschisis with neuroimaging.

  14. Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease.

    Science.gov (United States)

    Seyrantepe, Volkan; Demir, Secil Akyildiz; Timur, Zehra Kevser; Von Gerichten, Johanna; Marsching, Christian; Erdemli, Esra; Oztas, Emin; Takahashi, Kohta; Yamaguchi, Kazunori; Ates, Nurselin; Dönmez Demir, Buket; Dalkara, Turgay; Erich, Katrin; Hopf, Carsten; Sandhoff, Roger; Miyagi, Taeko

    2018-01-01

    Tay-Sachs disease is a severe lysosomal storage disorder caused by mutations in Hexa, the gene that encodes for the α subunit of lysosomal β-hexosaminidase A (HEXA), which converts GM2 to GM3 ganglioside. Unexpectedly, Hexa -/- mice have a normal lifespan and show no obvious neurological impairment until at least one year of age. These mice catabolize stored GM2 ganglioside using sialidase(s) to remove sialic acid and form the glycolipid GA2, which is further processed by β-hexosaminidase B. Therefore, the presence of the sialidase (s) allows the consequences of the Hexa defect to be bypassed. To determine if the sialidase NEU3 contributes to GM2 ganglioside degradation, we generated a mouse model with combined deficiencies of HEXA and NEU3. The Hexa -/- Neu3 -/- mice were healthy at birth, but died at 1.5 to 4.5months of age. Thin-layer chromatography and mass spectrometric analysis of the brains of Hexa -/- Neu3 -/- mice revealed the abnormal accumulation of GM2 ganglioside. Histological and immunohistochemical analysis demonstrated cytoplasmic vacuolation in the neurons. Electron microscopic examination of the brain, kidneys and testes revealed pleomorphic inclusions of many small vesicles and complex lamellar structures. The Hexa -/- Neu3 -/- mice exhibited progressive neurodegeneration with neuronal loss, Purkinje cell depletion, and astrogliosis. Slow movement, ataxia, and tremors were the prominent neurological abnormalities observed in these mice. Furthermore, radiographs revealed abnormalities in the skeletal bones of the Hexa -/- Neu3 -/- mice. Thus, the Hexa -/- Neu3 -/- mice mimic the neuropathological and clinical abnormalities of the classical early-onset Tay-Sachs patients, and provide a suitable model for the future pre-clinical testing of potential treatments for this condition. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Von Hippel–Lindau disease

    Directory of Open Access Journals (Sweden)

    Juhara Haron

    2017-04-01

    Full Text Available Von Hippel–Lindau (VHL disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB on magnetic resonance imaging (MRI. Multiple benign pancreatic and renal cysts were also noted in both patients.

  16. Microfinance als Geflecht von Anreizproblemen

    OpenAIRE

    Schmidt, Reinhard H.; Tschach, Ingo E.

    2001-01-01

    Während sich die Entwicklungsfinanzierung in Theorie und Praxis generell mit dem Finanzwesen in Entwicklungs- und Transformationsländern befasst, steht im Teilgebiet der Microfinance die Frage im Vordergrund, wie in diesen Ländern der Zugang ärmerer Bevölkerungsgruppen und speziell von Klein- und Kleinstunternehmer(innen), Kleinbauern und sonstigen wirtschaftlich Selbständigen aus eher niedrigen sozialen Schichten zu Kredit und anderen Finanzdiensleistungen verbessert werden kann. Obwohl es e...

  17. Moose von Inselbergen in Benin

    OpenAIRE

    Frahm, Jan-Peter; Porembski, Stefan

    1998-01-01

    Acht Leber- und zehn Laubmoosarten werden von Inselbergen aus Benin angegeben. Fünf der Lebermoose (Acrolejeunea emergens, Riccia atropurpurea, R. congoana, R. discolor, R. moenkemeyeri) und alle Laubmoose (Archidium ohioense, Brachymenium acuminatum, B. exile, Bryum arachnoideum, B. argenteum, Bryum deperssum, Garckea moenkemeyeri, Hyophila involuta, Philonotis mniobryoides und Weissia cf. edentula) werden neu für Benin angegeben. Eight liverworts and ten mosses are reported from inselber...

  18. Entwicklung und Anwendung von Methoden zur Bestimmung von Selen-Spezies in human-biologischem Material

    OpenAIRE

    Jäger, Thomas

    2014-01-01

    Selen ist essentieller Bestandteil von mehr als 25 physiologisch wichtigen menschlichen Enzymen. Der tägliche Bedarf wird überwiegend in Form von organischen Selenverbindungen wie Selenmethionin oder Selenocystein aus der Nahrung aufgenommen. Weitere Expositionswege sind die Einnahme von Nahrungsergänzungsmitteln zur Selensupplementation sowie die inhalative oder dermale Aufnahme von in erster Linie anorganischen Selenverbindungen oder elementarem Selen an Arbeitsplätzen der Selen-verarbeiten...

  19. Dr. von Braun Briefing Walt Disney

    Science.gov (United States)

    1965-01-01

    Dr. von Braun began his association with Walt Disney in the 1950s when the rocket scientist appeared in three Disney television productions related to the exploration of space. Years later, Dr. von Braun invited Disney and his associates to tour the Marshall Space Flight Center (MSFC) in Huntsville, Alabama. This photograph is dated April 13, 1965. From left are R.J. Schwinghamer from the MSFC, Disney, B.J. Bernight, and Dr. von Braun.

  20. Wohnquartiersbeschreibung: ein Instrument zur Regionalisierung von Nachbarschaften

    OpenAIRE

    Hoffmeyer-Zlotnik, Jürgen H. P.

    2001-01-01

    'Ausgehend von der Annahme, daß soziale Differenzierung sich in räumlicher Differenzierung niederschlägt, bietet eine Beschreibung der Struktur des näheren Wohnumfeldes die Möglichkeit, das Wohnquartier als Handlungsraum und Sozialisationsinstanz zur Interpretation von Umfragedaten zu nutzen. Das vorliegende Instrumentarium erlaubt es, das Wohnquartier unabhängig von Zensusdaten über Merkmale, die in der eigenen Umfrage erhoben werden, zu charakterisieren.' (Autorenreferat) 'The general hy...

  1. Von Willebrand disease protects against arterial thrombosis

    NARCIS (Netherlands)

    Sanders, Y.V.; Eikenboom, J.C.; De Wee, E.M.; Van Der Bom, J.G.; Cnossen, M.H.; Degenaar-Dujardin, M.E.; Fijnvandraat, K.; Kamphuisen, P.W.; Laros-Van Gorkum, B.A.; Meijer, K.; Mauser -Bunschoten, E.P.; Leebee k, F.W.

    Background and Aims: Von Willebrand disease (VWD) is caused by reduced levels of or dysfunctional von Willebrand factor (VWF) and is characterized by a bleeding tendency. It is well known that individuals with high VWF levels have a higher risk for arterial thrombosis. Although it has never been

  2. Research, design and education, Von Humboldt revisited

    NARCIS (Netherlands)

    Bax, M.F.T.; Doevendans, C.H.; Trum, H.M.G.J.; Langenhuizen, Anja; Ouwerkerk, Marieke van; Rosemann, Jurgen

    2001-01-01

    This paper is a result of reflection on the interrelation design-research-cultivation, and on the interpretation of Von Humboldt's maxim: 'Einheit von Forschung und Lehre', which governed the academic world in the past two centuries. It is argued that 'Forschung' should be interpreted as 'Research

  3. Diffusion von Leerstelleninseln auf Cu(111)

    NARCIS (Netherlands)

    Verheij, Laurens K.; Schlößer, Dietmar; Rosenfeld, Georg

    1998-01-01

    Die zufällige Bewegung von Leerstelleninseln wurde bisher vorwiegend in einem Bild beschrieben, das von der Diffusion einzelner Atome ausgeht. In diesem Bild kann man Inseldiffusion durch die Einstein-Beziehung für Brownsche Bewegung ((Δ r)2 = 4 D Δ t) beschreiben. Für die Diffusionskonstante D wird

  4. Molecular characterization of a novel HEXA mutation at the +3 position of intron 8 in a Tay-Sachs disease patient

    Energy Technology Data Exchange (ETDEWEB)

    Richard, M.; Triggs-Raine, B. [Univ. of Manitoba, Winnipeg (Canada); Natowicz, M. [E.K. Shriver Center, Waltham, MA (United States)

    1994-09-01

    Tay-Sachs disease is an autosomal recessive lysosomal storage disorder resulting from mutations in the HEXA gene that cause a deficiency in the activity of that enzyme {beta}-hexosaminidase A (Hex A). This deficiency leads to the build-up of G{sub M2} ganglioside, resulting in neurodegeneration and death. Biochemical analysis of a non-Jewish patient with a late-infantile form of Tay-Sachs disease revealed a substantial level of Hex A activity (38.4%) when 4-MUG was used as the substrate. However, when a substrate (4-MUGS) specific for the {alpha}-subunit of Hex A ({alpha}{beta}) was used, almost no activity was detected in the HEXA gene of the patient using SSCP analysis followed by sequencing. The first mutation, a G533A substitution in exon 5, is previously described and associated with the B1 form of Tay-Sachs disease. The second mutation is a novel a-to-g base change at the +3 position of intron 8. This was confirmed using the AIRS method, whereby a MaeIII site was created in the presence of the mutation. Normal and patient mRNA was reverse transcribed and exons 7 to 9 were PCR-amplified from the cDNA. An abnormally sized amplification product detected only in the patient cDNA was sequenced; exon 8 had been deleted and exons 7 and 9 were spliced together. A substantial level of normally-sized PCR product was also detected in the patient`s cDNA. Experiments are in progress to determine if this is produced from the allele harboring the G533A mutation. Given that previous mutations of this type have been associated with 97-100% abnormal splicing, this mutation is likely to be the cause, together with the G533A mutation, of Tay-Sachs disease in this patient.

  5. Area density of localization-entropy II: double cone-localization and quantum origin of the Bondi-Metzner-Sachs symmetry

    Energy Technology Data Exchange (ETDEWEB)

    Schroer, Bert

    2006-04-15

    The holographic encoding is generalized to subalgebras of QFT localized in double cones. It is shown that as a result of this radically different spacetime encoding the modular group acts geometrically on the holographic image. As a result we obtain a formula for localization entropy which is identical to the previously derived formula for the wedge-localized subalgebra. The symmetry group in the holographic encoding turns out to be the Bondi-Metzner-Sachs group. (author)

  6. Von Hippel-Lindau Disease

    Directory of Open Access Journals (Sweden)

    Hes Frederik J

    2005-11-01

    Full Text Available Abstract A germline mutation in the Von-Hippel Lindau (VHL gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-α (HIF1-α. Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for VHL is an indication for genetic counselling and periodical examination.

  7. Jacob Stael von Holstein ja palladionism eesti arhitektuuris / Ants Hein

    Index Scriptorium Estoniae

    Hein, Ants, 1952-

    2005-01-01

    Sõjaväeinsenerist ja arhitektist Jacob Stael von Holsteinist (1628, Pärnu-1679), tema kavandatud hoonetest ja rollist 17. sajandi II poole arhitektuuris. Fabian von Ferseni Toompeal Lossiplatsil asunud elamust (lammutati 1894) ja Maardu mõisahoonest, Hans von Ferseni Mäo mõisahoonest Järvamaal, Otto Wilhelm von Ferseni majast Toompeal, Axel von Roseni majast Tallinnas Pikk t. 28 (1670-74), Otto Reinhold von Taube majast Tartus (hävinud), J. S. von Holsteini enda hoonetest: majast Tallinnas Toompea 1, Anija mõisahoonest, elamust Riias jm. Bibliograafia lk. 452

  8. The von Meyenburg complex; Der von Meyenburg Komplex

    Energy Technology Data Exchange (ETDEWEB)

    Schwab, S.A.; Bautz, W.; Uder, M.; Kuefner, M.A. [Erlangen-Nuernberg Univ., Erlangen (Germany). Inst. fuer Radiologie

    2008-07-01

    The von Meyenburg complex (VMC) describes bile duct hamartomas and presents a rare, benign incidental finding in liver imaging. We report on a 61-year-old man, who was referred for a follow up study 14 years after remission of Hodgkin's disease. Computed tomography (CT) revealed multiple hypodense lesions throughout the liver, primary suggesting recurrent Hodgkin's disease. Previous CT-examinations, which were obtained at a later date, showed those lesions in identical distribution and morphology over the years, leading to diagnosis of multiple bile duct hamartomas (VMC). Making imaging-based diagnosis of VMC including ultrasound, CT and magnetic resonance imaging is a challenging task for the radiologist. Based on literature research findings, the impact of different modalities in the diagnostic work-up of VMC is discussed. (orig.)

  9. Neues über das Tertiär von Java und die mesozoischen Schichten von West-Borneo

    NARCIS (Netherlands)

    Martin, K.

    1888-01-01

    Die Monographie, welche unter dem Titel Die Fossilien von Java herausgegeben wird ¹), ist so weit fortgeschritten, dass sich aus den in ihr beschriebenen Gastropoden bereits eine Anzahl von Schlussfolgerungen ableiten lässt, welche für die in Bearbeitung begriffene, geologische Karte von Java von

  10. Memory effects of transformation textures in steel and its prediction by the double Kurdjumov–Sachs relation

    International Nuclear Information System (INIS)

    Tomida, T.; Wakita, M.; Yasuyama, M.; Sugaya, S.; Tomota, Y.; Vogel, S.C.

    2013-01-01

    The phenomenon that the transformation texture near the initial texture reproduces after the phase transformation cycle such as ferrite (α, body-centered cubic) → austenite (γ, face-centered cubic) → α is called a texture memory. In this study, the texture change in a 0.1% C–1% Mn hot-rolled steel sheet during the α → γ → α transformation cycle was studied via neutron diffraction and the transformation texture prediction based on a variant selection rule that we call the double Kurdjumov–Sachs (K–S) relation. The texture change observed by neutron diffraction, which clearly showed the texture memory, could be quantitatively reproduced by the proposed variant selection rule adopted into the calculation method based on the spherical harmonics expansion of orientation distribution functions. Therefore, it is most likely that the texture memory in steel is caused by the preferential selection of those K–S variants that reduce the interfacial energy between a precipitate and two adjoining parent phase grains at the same time, which we call the double K–S relation

  11. A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease.

    Science.gov (United States)

    Martino, S; Marconi, P; Tancini, B; Dolcetta, D; De Angelis, M G Cusella; Montanucci, P; Bregola, G; Sandhoff, K; Bordignon, C; Emiliani, C; Manservigi, R; Orlacchio, A

    2005-08-01

    Therapy for neurodegenerative lysosomal Tay-Sachs (TS) disease requires active hexosaminidase (Hex) A production in the central nervous system and an efficient therapeutic approach that can act faster than human disease progression. We combined the efficacy of a non-replicating Herpes simplex vector encoding for the Hex A alpha-subunit (HSV-T0alphaHex) and the anatomic structure of the brain internal capsule to distribute the missing enzyme optimally. With this gene transfer strategy, for the first time, we re-established the Hex A activity and totally removed the GM2 ganglioside storage in both injected and controlateral hemispheres, in the cerebellum and spinal cord of TS animal model in the span of one month's treatment. In our studies, no adverse effects were observed due to the viral vector, injection site or gene expression and on the basis of these results, we feel confident that the same approach could be applied to similar diseases involving an enzyme defect.

  12. Tay–Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum–associated degradation

    Science.gov (United States)

    Dersh, Devin; Iwamoto, Yuichiro; Argon, Yair

    2016-01-01

    Loss of function of the enzyme β-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay–Sachs disease (TSD). It has been proposed that mutations in the α chain of HexA can impair folding, enzyme assembly, and/or trafficking, yet there is surprisingly little known about the mechanisms of these potential routes of pathogenesis. We therefore investigated the biosynthesis and trafficking of TSD-associated HexA α mutants, seeking to identify relevant cellular quality control mechanisms. The α mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type α. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA β chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum (ER) to the cytosol and are degraded by the proteasome, indicating that they are cleared via ER-associated degradation (ERAD). Leveraging these discoveries, we observed that manipulating the cellular folding environment or ERAD pathways can alter the kinetics of mutant α degradation. Additionally, growth of patient fibroblasts at a permissive temperature or with chemical chaperones increases cellular Hex activity by improving mutant α folding. Therefore modulation of the ER quality control systems may be a potential therapeutic route for improving some forms of TSD. PMID:27682588

  13. Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

    Science.gov (United States)

    Mehta, Nikita; Lazarin, Gabriel A; Spiegel, Erica; Berentsen, Kathleen; Brennan, Kelly; Giordano, Jessica; Haque, Imran S; Wapner, Ronald

    2016-09-01

    Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses the reliability of EA in comparison with HEXA sequence analysis in non-AJ populations. Five hundred eight Hispanic and African American patients (516 samples) had EA of their leukocytes performed and 12 of these patients who tested positive by EA ("carriers") had subsequent HEXA gene sequencing performed. Of the 508 patients, 25 (4.9%) were EA positive and 40 (7.9%) were inconclusive. Of the 12 patients who were sequenced, 11 did not carry a pathogenic variant and one carried a likely deleterious mutation (NM_000520.4(HEXA):c.1510C>T). High inconclusive rates and poor correlation between positive/inconclusive enzyme results and identification of pathogenic mutations suggest that ethnic-specific recalibration of reference ranges for EA may be necessary. Alternatively, HEXA gene sequencing could be performed.

  14. Mortality incidence estimation using federal death certificate and natality data with an application to Tay-Sachs disease.

    Science.gov (United States)

    Jalal, Kabir; Carter, Randy L

    2015-09-01

    For confidentiality reasons, US federal death certificate data are incomplete with regards to the dates of birth and death for the decedents, making calculation of total lifetime of a decedent impossible and thus estimation of mortality incidence difficult. This paper proposes the use of natality data and an imputation-based method to estimate age-specific mortality incidence rates in the face of this missing information. By utilizing previously determined probabilities of birth, a birth date and death date are imputed for every decedent in the dataset. Thus, the birth cohort of each individual is imputed, and the total on-study time can be calculated. This idea is implemented in two approaches for estimation of mortality incidence rates. The first is an extension of a person-time approach, while the second is an extension of a life table approach. Monte Carlo simulations showed that both approaches perform well in comparison to the ideal complete data methods, but that the person-time method is preferred. An application to Tay-Sachs disease is demonstrated. It is concluded that the imputation methods proposed provide valid estimates of the incidence of death from death certificate data without the need for additional assumptions under which usual mortality rates provide valid estimates. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  15. Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia.

    Science.gov (United States)

    Laberge, A-M; Watts, C; Porter, K; Burke, W

    2010-01-01

    The objective of this study was to identify factors involved in the success of 2 well-established population-based carrier screening programs - Tay-Sachs disease (TSD) in Ashkenazi Jews and beta-thalassemia in Sardinia and Cyprus - and to assess the potential for success of a population-based cystic fibrosis (CF) carrier screening strategy using these factors. We performed a literature review and key informant interviews. Factors involved in the success of TSD and beta-thalassemia carrier screening programs include disease characteristics (well-defined population at risk, severe disease with predictable course, availability of effective treatment), test characteristics (high sensitivity, straightforward interpretation of results), and community characteristics (involvement of community, support of families and advocacy groups, consensus in favor of avoiding affected births). Current CF screening strategies include few of the factors listed above. Unlike TSD and beta-thalassemia, the purpose of current CF carrier screening strategies is informed reproductive decision-making, without an explicit goal of reducing disease incidence. When compared to TSD and beta-thalassemia, CF is a less favorable candidate for population-based carrier screening. Because of its different purpose, CF carrier screening will require different measures of success than those used for TSD and beta-thalassemia carrier screening, and a consensus on the value or success of CF carrier screening may be difficult to achieve.

  16. Initial-boundary-value problem of the self-gravitating scalar field in the Bondi-Sachs gauge

    International Nuclear Information System (INIS)

    Frittelli, Simonetta; Gomez, Roberto

    2007-01-01

    It is shown that, in the Bondi-Sachs gauge that fixes the speed of incoming light rays to the value 1, the Einstein equations coupled to a scalar field in spherical symmetry are cast into a symmetric-hyperbolic system of equations for the scalar field, lapse and shift as fundamental variables. In this system of equations, the lapse and shift are incoming characteristic fields, and the scalar field has three components: incoming, outgoing and static. A constraint-preserving boundary condition is prescribed by imposing the projection of the Einstein equation normal to the boundary at the outer value of the radial coordinate. The boundary condition specifies one of the two incoming metric fields. The remaining incoming metric field and the incoming scalar field component need to be specified arbitrarily. Numerical simulations of the scattering of the scalar field by a black hole in the nonlinear regime are presented that illustrate interesting facts about black-hole physics and the behavior of the characteristic variables of the problem

  17. Eine Analyse des Zusammenhangs zwischen dem Konsum von Alkopops und dem Problemverhalten von Jugendlichen

    OpenAIRE

    Metzner, Cornelia Beate Isabel

    2007-01-01

    Zielsetzung: In dieser Arbeit wird untersucht, ob bei Jugendlichen ein Zusammenhang zwischen dem Konsum von Alkopops einerseits und dem sonstigen Alkoholtrinkverhalten, dem Konsum von Zigaretten und illegalen Drogen sowie weiteren Risikoverhaltensweisen andererseits besteht, ferner ob sich Unterschiede im Verhalten von Jungen und Mädchen ergeben. Theoretischer und empirischer Hintergrund: �Alkopops�, d. h. Mischgetränke diverser Hersteller aus Likör bzw. Schnaps und Limonade sowie wein- ...

  18. Analytik von Minorlipiden: Ferulasäureester von Phytosterolen (gamma-Oryzanol) in Reis

    OpenAIRE

    Miller, Andreas

    2005-01-01

    Ferulasäureestern von Phytosterolen (γ-Oryzanol) werden antioxidative und cholesterinsenkende Eigenschaften zugeschrieben. Bisher beschriebene Methoden zur Analytik von γ-Oryzanol in Reis erforderten eine aufwendige Aufreinigung des Probenextrakts. In dieser Arbeit wurde basierend auf der on-line LC-GC eine Methode entwickelt, die die simultane Bestimmung von γ-Oryzanol-Gehalt und Sterylferulat-Verteilung ohne Aufreinigung des Probenextrakts erlaubt. Mit Hilfe der Technik wurden die natürlich...

  19. Redoxspeziation von endlagerrelevanten Elementen mit Hilfe von Trennmethoden gekoppelt an ein Massenspektrometer mit induktiv gekoppeltem Plasma

    OpenAIRE

    Graser, Carl-Heinrich

    2015-01-01

    Im Rahmen dieser Arbeit wurden Redoxspeziationsanalysen von Eisen, Neptunium und Plutonium per CE-SF-ICP-MS durchgeführt. Durch Optimierung der Trennparameter konnten Trennungen der Pu Oxidationsstufen III bis VI und Trennungen der Np Oxidationsstufen IV bis VI binnen 15 Minuten mit einer Nachweisgrenze von 10-12 M durchgeführt werden. Die Trennung der Fe Oxidationsstufen II und III gelang in weniger als 5 Minuten mit einer Nachweisgrenze von 5-10-8 M.

  20. THE DIGITAL VON FAHRENHEID PYRAMID

    Directory of Open Access Journals (Sweden)

    M. Bura

    2017-08-01

    Full Text Available 3D Scanners Lab from Digital Humanities Laboratory at the University of Warsaw initiated the scientific project, the purpose of which was to call attention to systematically penetrated and devastated pyramid-shaped tomb from the XVIII/XIX century, of family von Fahrenheid in Rapa in Banie Mazurskie commune (NE Poland. By conducting a series of non-invasive studies, such as 3D inventory using terrestrial laser scanning (TLS, thermal imaging, georadar measurements (around and inside the tomb and anthropological research of mummified remains as well - the complete dataset was collected. Through the integration of terrestrial (TLS and airborne laser scanning (ALS authors managed to analyse the surroundings of Fahrenheid pyriamid and influence of some objects (like trees on the condition and visibility of the Pyramids in the landscape.

  1. Die Wirkung von Desacetylcefotaxin, einem Metaboliten von Cefotaxim, in vitro und auf die experimentelle Infektion mit Escherichia coli

    OpenAIRE

    Wirbelauer, J.; Hof, H.; Hacker, Jörg

    2009-01-01

    Die MHK-Werte von Desacetylcefotaxim gegen verschiedene, z. T. ampicillinresistente Stämme von Escherichia coH, die mit Hilfe einer Agardilutionsmethode erhoben wurden, waren höher als die von Cefotaxim und Ceftriaxon, jedoch niedriger als die von Cefoxitin. In einem Modell der systemischen Infektion der Maus mit einem plasmidtragenden, betalactamaseproduzierenden Stamm von E. coli führte die Therapie mit Desacetylcefotaxim zu einer starken Reduktion der Keime pro Leber. Im Vergleich zur Ther...

  2. VON WISPR Family Processors: Volume 1

    National Research Council Canada - National Science Library

    Wagstaff, Ronald

    1997-01-01

    ...) and the background noise they are embedded in. Processors utilizing those fluctuations such as the von WISPR Family Processors discussed herein, are methods or algorithms that preferentially attenuate the fluctuating signals and noise...

  3. Von Onlineplattformen und mittelalterlichen Märkten

    Directory of Open Access Journals (Sweden)

    Claudius Gräbner

    2017-12-01

    Full Text Available Mit der zunehmenden Digitalisierung und Vernetzung ökonomischer Systeme haben plattformbasierte Interaktionsbeziehungen stark an Bedeutung gewonnen. Hier werden zwei oder mehr Nutzungsgruppen durch eine dritte Seite, die Plattform, zusammengebracht. Die Interaktion wird in solchen zweiseitigen Märkten von den Plattformbetreibern kontrolliert. Kreditkartensysteme, Softwaremärkte oder werbefinanzierte Online-Communities stellen typische Beispiele dar. Da die Analyse von zweiseitigen Märkten mit Gleichgewichtsmodellen aufgrund der algebraischen Struktur des Problems in der Regel nicht praktikabel ist, präsentieren wir im vorliegenden Beitrag ein agentenbasiertes Modell, welches in einem kürzlich erschienenen Artikel ausführlicher diskutiert wird. Anhand von illustrativen Beispielen verdeutlichen wir die Implikationen eines agentenbasierten Ansatzes für die Innovationsökonomik im Allgemeinen und das Studium von Technologieentwicklung im Besonderen.

  4. Johann Friedrich Wilhelm Adolf von Baeyer

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 19; Issue 6. Johann Friedrich Wilhelm Adolf von Baeyer: A Pioneer of Synthetic Organic Chemistry. Gopalpur Nagendrappa. General Article Volume 19 Issue 6 June 2014 pp 489-522 ...

  5. Titanisierung von Implantatoberflächen

    Science.gov (United States)

    Zimmermann, Hanngörg; Heinlein, Markus; Guldner, Norbert W.

    Titan gilt seit Jahrzehnten als einer der wichtigsten Implantatwerkstoffe in der Medizin. Neben den guten mechanischen Eigenschaften (Leichtigkeit, hohe Festigkeit etc.), besitzen Titanimplantate vor allem eine hervorragende Körperverträglichkeit, so dass die Implantate optimal in den humanen Organismus integriert werden [1]. Ist jedoch aufgrund der Anforderungen an das Implantat eine hohe Flexibilität und/ oder Elastizität gefragt, so scheidet der Werkstoff Titan aufgrund seiner spröden und unflexiblen Materialeigenschaften aus. Die Folge ist der Einsatz von Implantatmaterialien, sowohl künstlichen als auch biologischen Ursprungs, welche nicht selten eine unzureichende Biokompatibilität aufweisen und somit zu Fremdköper- und immunologischen Reaktionen und Einkapselung des Implantates führen können. Die Erhöhung der Körperverträglichkeit, eine Adaption an das biologische Umfeld und eine hohe Biokompatibilität sind demzufolge die wichtigsten Eigenschaften bei der bedarfsgerechten Herstellung von Implantaten und Implantatoberflächen. Zur Gestaltung von innovativen, biokompatiblen Oberflächen stehen unterschiedliche technische Lösungsansätze zur Verfügung. Zum einen besteht die Möglichkeit, geeignete Oberflächeneigenschaften aus dem Grundmaterial selbst zu optimieren. Dies geschieht unter anderem durch Modifikation der Werkstoffoberflächen in Form von Texturierungen und Oberflächenrauhigkeiten. Zum anderen können die Oberflächeneigenschaften unabhängig von denen des Trägermaterials gestaltet werden. Durch Funktionalisierung der Oberflächen mit geeigneten Beschichtungen oder der Zugabe von Medikamenten (Drug Eluting) werden die Kunststoffimplantate dahingehend verändert, dass eine Steigerung der Körperakzeptanz erreicht wird. Die Titanbeschichtung von Implantatoberflächen kombiniert die positiven Materialeigenschaften von Titan und Polymer.

  6. 50th birthday of Christian von Ferber

    Directory of Open Access Journals (Sweden)

    2011-06-01

    Full Text Available On May 15, 2011 Christian von Ferber - member of the Editorial Board of "Condensed Matter Physics" and renowned expert in the fields of soft matter physics and complex systems - celebrated his 50th birthday. The Editorial board of CMP, colleagues and friends warmy congratulate Christian von Ferber and wish him and his family continuing good health and to enjoy many adventures and discoveries in his future scientific travels!

  7. The classification problem for von Neumann factors

    DEFF Research Database (Denmark)

    Sasyk, R.; Törnquist, Asger Dag

    2009-01-01

    We prove that it is not possible to classify separable von Neumann factors of types II, II or III, 0 ≤ λ ≤ 1, up to isomorphism by a Borel measurable assignment of "countable structures" as invariants. In particular the isomorphism relation of type II factors is not smooth. We also prove...... that the isomorphism relation for von Neumann II factors is analytic, but is not Borel....

  8. Hullud päevad von Krahlis

    Index Scriptorium Estoniae

    2006-01-01

    Von Krahli Teatris mängitakse neil päevi neli korda Peeter Jalaka lavastuses Tõnu Kõrvitsa kammeroopereid "Tuliaed" ja "Mu luiged, mu mõtted", mille aluseks on luuletaja Marie Heibergi saatus. Libreto autor on Maarja Kangro. Kammerooperid tulevad lavale Von Krahli Teatri ja Nargen Opera koostöös. Esitavad Kädy Plaas, Helen Lokuta, Nargen Opera koor ja Tallinna Kammerorkester, dirigent Tõnu Kaljuste

  9. Bedeutung von Umwelt- und Organismusfaktoren bei Autoaggressionen

    OpenAIRE

    Rohmann, Ulrich H.; Elbing, Ulrich; Hartmann, Hellmut

    1988-01-01

    In der vorliegenden Arbeit werden übergeordnete Hypothesen zu autoaggressiven Verhaltensweisen formuliert, wobei prozeßhafte Abläufe von umweltbezogenen und organischen Variablen angenommen werden. Eine solche dynamische Beziehung hat ihre Bedeutung sowohl für verursachende als auch aufrechterhaltende Faktoren. In einer Querschnittuntersuchung lassen sich Korrelationen von Tageszeit- und Tätigkeitscharakteristiken (umweltbezogene Variablen) zur Autoaggressionshäufigkeit und Pulsfrequenz (Orga...

  10. Visualisierung von typisierten Links in Linked Data

    Directory of Open Access Journals (Sweden)

    Georg Neubauer

    2017-09-01

    Full Text Available Das Themengebiet der Arbeit behandelt Visualisierungen von typisierten Links in Linked Data. Die wissenschaftlichen Gebiete, die im Allgemeinen den Inhalt des Beitrags abgrenzen, sind das Semantic Web, das Web of Data und Informationsvisualisierung. Das Semantic Web, das von Tim Berners Lee 2001 erfunden wurde, stellt eine Erweiterung zum World Wide Web (Web 2.0 dar. Aktuelle Forschungen beziehen sich auf die Verknüpfbarkeit von Informationen im World Wide Web. Um es zu ermöglichen, solche Verbindungen wahrnehmen und verarbeiten zu können sind Visualisierungen die wichtigsten Anforderungen als Hauptteil der Datenverarbeitung. Im Zusammenhang mit dem Sematic Web werden Repräsentationen von zuhammenhängenden Informationen anhand von Graphen gehandhabt. Der Grund des Entstehens dieser Arbeit ist in erster Linie die Beschreibung der Gestaltung von Linked Data-Visualisierungskonzepten, deren Prinzipien im Rahmen einer theoretischen Annäherung eingeführt werden. Anhand des Kontexts führt eine schrittweise Erweiterung der Informationen mit dem Ziel, praktische Richtlinien anzubieten, zur Vernetzung dieser ausgearbeiteten Gestaltungsrichtlinien. Indem die Entwürfe zweier alternativer Visualisierungen einer standardisierten Webapplikation beschrieben werden, die Linked Data als Netzwerk visualisiert, konnte ein Test durchgeführt werden, der deren Kompatibilität zum Inhalt hatte. Der praktische Teil behandelt daher die Designphase, die Resultate, und zukünftige Anforderungen des Projektes, die durch die Testung ausgearbeitet wurden.

  11. Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

    Science.gov (United States)

    Dersh, Devin; Iwamoto, Yuichiro; Argon, Yair

    2016-12-01

    Loss of function of the enzyme β-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay-Sachs disease (TSD). It has been proposed that mutations in the α chain of HexA can impair folding, enzyme assembly, and/or trafficking, yet there is surprisingly little known about the mechanisms of these potential routes of pathogenesis. We therefore investigated the biosynthesis and trafficking of TSD-associated HexA α mutants, seeking to identify relevant cellular quality control mechanisms. The α mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type α. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA β chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum (ER) to the cytosol and are degraded by the proteasome, indicating that they are cleared via ER-associated degradation (ERAD). Leveraging these discoveries, we observed that manipulating the cellular folding environment or ERAD pathways can alter the kinetics of mutant α degradation. Additionally, growth of patient fibroblasts at a permissive temperature or with chemical chaperones increases cellular Hex activity by improving mutant α folding. Therefore modulation of the ER quality control systems may be a potential therapeutic route for improving some forms of TSD. © 2016 Dersh et al. This article is distributed by The American Society for Cell Biology under license from the author(s). Two months after publication it is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License (http://creativecommons.org/licenses/by-nc-sa/3.0).

  12. Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.

    Science.gov (United States)

    Osher, Etty; Fattal-Valevski, Aviva; Sagie, Liora; Urshanski, Nataly; Sagiv, Nadav; Peleg, Leah; Lerman-Sagie, Tally; Zimran, Ari; Elstein, Deborah; Navon, Ruth; Valevski, Avi; Stern, Naftali

    2015-04-17

    Late Onset Tay- Sachs disease (LOTS) is a rare neurodegenerative lysosomal storage disease which results from mutations in the gene encoding the α subunit (HEXA) of β-hexosaminidase enzyme (HexA). At the present time, no effective treatment exists for LOTS and other neurodegenerative diseases involving the central nerve system (CNS). Pyrimethamine (PMT) was previously shown to act as a HexA chaperone in human fibroblasts in vitro carrying some (e.g., αG269S), but not all LOTS-related mutations. The present study assessed the effect of cyclic, low dose and long term pyrimethamine treatment on HexA in subjects with LOTS. In an open label trial in 4 LOTS patients, PMT was initiated at an average daily dose of ~2.7 mg and administered cyclically guided by blood lymphocyte HexA activity for a mean duration of 82.8 (±22.5; SD) weeks (~1.5 year). HexA activity rose in all subjects, with a mean peak increase of 2.24 folds (±0.52; SD) over baseline activity (range 1.87-3). The mean treatment time required to attain this peak was of 15.7 (±4.8; SD) weeks. Following increase in activity, HexA gradually declined with the continued use of PMT, which was then stopped, resulting in the return of HexA activity to baseline. A second cycle of PMT treatment was then initiated, resulting again in an increase in HexA activity. Three of the patients experienced a measurable neuropsychiatric deterioration whereas one subject remained entirely stable. Cyclic low dose of PMT can increase HexA activity in LOTS patients. However, the observed increase is repeatedly transient and not associated with discernible beneficial neurological or psychiatric effects.

  13. A Drosophila protein family implicated in pheromone perception is related to Tay-Sachs GM2-activator protein.

    Science.gov (United States)

    Starostina, Elena; Xu, Aiguo; Lin, Heping; Pikielny, Claudio W

    2009-01-02

    Low volatility, lipid-like cuticular hydrocarbon pheromones produced by Drosophila melanogaster females play an essential role in triggering and modulating mating behavior, but the chemosensory mechanisms involved remain poorly understood. Recently, we showed that the CheB42a protein, which is expressed in only 10 pheromone-sensing taste hairs on the front legs of males, modulates progression to late stages of male courtship behavior in response to female-specific cuticular hydrocarbons. Here we report that expression of all 12 genes in the CheB gene family is predominantly or exclusively gustatory-specific, and occurs in many different, often non-overlapping patterns. Only the Gr family of gustatory receptor genes displays a comparable variety of gustatory-specific expression patterns. Unlike Grs, however, expression of all but one CheB gene is sexually dimorphic. Like CheB42a, other CheBs may therefore function specifically in gustatory perception of pheromones. We also show that CheBs belong to the ML superfamily of lipid-binding proteins, and are most similar to human GM2-activator protein (GM2-AP). In particular, GM2-AP residues involved in ligand binding are conserved in CheBs but not in other ML proteins. Finally, CheB42a is specifically secreted into the inner lumen of pheromone-sensing taste hairs, where pheromones interact with membrane-bound receptors. We propose that CheB proteins interact directly with lipid-like Drosophila pheromones and modulate their detection by the gustatory signal transduction machinery. Furthermore, as loss of GM2-AP in Tay-Sachs disease prevents degradation of GM2 gangliosides and results in neurodegeneration, the function of CheBs in pheromone response may involve biochemical mechanisms critical for lipid metabolism in human neurons.

  14. A Drosophila Protein Family Implicated in Pheromone Perception Is Related to Tay-Sachs GM2-Activator Protein*

    Science.gov (United States)

    Starostina, Elena; Xu, Aiguo; Lin, Heping; Pikielny, Claudio W.

    2009-01-01

    Low volatility, lipid-like cuticular hydrocarbon pheromones produced by Drosophila melanogaster females play an essential role in triggering and modulating mating behavior, but the chemosensory mechanisms involved remain poorly understood. Recently, we showed that the CheB42a protein, which is expressed in only 10 pheromone-sensing taste hairs on the front legs of males, modulates progression to late stages of male courtship behavior in response to female-specific cuticular hydrocarbons. Here we report that expression of all 12 genes in the CheB gene family is predominantly or exclusively gustatory-specific, and occurs in many different, often non-overlapping patterns. Only the Gr family of gustatory receptor genes displays a comparable variety of gustatory-specific expression patterns. Unlike Grs, however, expression of all but one CheB gene is sexually dimorphic. Like CheB42a, other CheBs may therefore function specifically in gustatory perception of pheromones. We also show that CheBs belong to the ML superfamily of lipid-binding proteins, and are most similar to human GM2-activator protein (GM2-AP). In particular, GM2-AP residues involved in ligand binding are conserved in CheBs but not in other ML proteins. Finally, CheB42a is specifically secreted into the inner lumen of pheromone-sensing taste hairs, where pheromones interact with membrane-bound receptors. We propose that CheB proteins interact directly with lipid-like Drosophila pheromones and modulate their detection by the gustatory signal transduction machinery. Furthermore, as loss of GM2-AP in Tay-Sachs disease prevents degradation of GM2 gangliosides and results in neurodegeneration, the function of CheBs in pheromone response may involve biochemical mechanisms critical for lipid metabolism in human neurons. PMID:18952610

  15. Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.

    Science.gov (United States)

    Martin, Dianna C; Mark, Brian L; Triggs-Raine, Barbara L; Natowicz, Marvin R

    2007-03-01

    The assessment of risk for Tay-Sachs disease (TSD) in individuals of French Canadian background living in New England is an important health issue. In preliminary studies of the enzyme-defined carrier frequency for TSD among Franco-Americans in New England, we found frequencies (1:53) higher than predicted from the incidence of infantile TSD in this region. We have now further evaluated the risk for TSD in the Franco-American population of New England. Using a fluorescence-based assay for beta-hexosaminidase activity, we determined the carrier frequencies for TSD in 2783 Franco-Americans. DNA analysis was used to identify mutations causing enzyme deficiency in TSD carriers. We determined the enzyme-defined carrier frequency for TSD as 1:65 (95% confidence interval 1:49 to 1:90). DNA-based analysis of 24 of the enzyme-defined carriers revealed 21 with sequence changes: 9 disease-causing, 4 benign, and 8 of unknown significance. Six of the unknowns were identified as c.748G>A p.G250S, a mutation we show by expression analysis to behave similarly to the previously described c.805G>A p.G269S adult-onset TSD mutation. This putative adult-onset TSD c.748G>A p.G250S mutation has a population frequency similar to the common 7.6 kb deletion mutation that occurs in persons of French Canadian ancestry. We estimate the frequency of deleterious TSD alleles in Franco-Americans to be 1:73 (95% confidence interval 1:55 to 1:107). These data provide a more complete data base from which to formulate policy recommendations regarding TSD heterozygosity screening in individuals of French Canadian background.

  16. Fermat Potentials of Embedded Lensing, the Integrated Sachs-Wolfe Effect, and Weak-Lensing of CMB by Cosmic Voids

    Science.gov (United States)

    Chen, Bin; Kantowski, R.; Dai, X.

    2014-01-01

    We have developed an accurate gravitational lens theory for an inhomogeneity embedded in an otherwise homogeneous universe, which to the lowest order is applicable to any mass distribution. We derive the Fermat potential for a spherically symmetric lens embedded in a FLRW cosmology and use it to investigate the late-time integrated Sachs-Wolfe effect (ISW) caused by individual large scale inhomogeneities, in particular, cosmic voids. We present a simple analytical expression for the CMB temperature fluctuation across such a lens as the derivative of the lens Fermat potential. Our formalism is applicable to both linear and nonlinear density evolution scenarios, to arbitrarily large density contrasts, and to all open and closed background cosmologies. Our results are particularly useful for modeling ISW effects extracted through stacking large numbers of cosmic voids and clusters (that is, the aperture photometry method). For structures co-expanding with the background cosmology, i.e., for time-independent density contrasts, we find that the gravitational lensing time delay alone can produce fluctuations of the order of seen in recent observations by WMAP and Planck. We revisit the possibility of explaining the non-Gaussian cold spot on the south hemisphere via the Rees-Sciama effect of a large cosmic void using constraints obtained from the most recent void catalogs and our new void-lensing formalism, and compare it with other explanations such as a collapsing cosmic texture. We also study the remapping of primordial CMB anisotropies, the weak-lensing shear, and magnification caused by void lensing.

  17. Traumatic glenohumeral bone defects and their relationship to failure of arthroscopic Bankart repairs: significance of the inverted-pear glenoid and the humeral engaging Hill-Sachs lesion.

    Science.gov (United States)

    Burkhart, S S; De Beer, J F

    2000-10-01

    Our goal was to analyze the results of 194 consecutive arthroscopic Bankart repairs (performed by 2 surgeons with an identical suture anchor technique) in order to identify specific factors related to recurrence of instability. Case series. We analyzed 194 consecutive arthroscopic Bankart repairs by suture anchor technique performed for traumatic anterior-inferior instability. The average follow-up was 27 months (range, 14 to 79 months). There were 101 contact athletes (96 South African rugby players and 5 American football players). We identified significant bone defects on either the humerus or the glenoid as (1) "inverted-pear" glenoid, in which the normally pear-shaped glenoid had lost enough anterior-inferior bone to assume the shape of an inverted pear; or (2) "engaging" Hill-Sachs lesion of the humerus, in which the orientation of the Hill-Sachs lesion was such that it engaged the anterior glenoid with the shoulder in abduction and external rotation. There were 21 recurrent dislocations and subluxations (14 dislocations, 7 subluxations). Of those 21 shoulders with recurrent instability, 14 had significant bone defects (3 engaging Hill-Sachs and 11 inverted-pear Bankart lesions). For the group of patients without significant bone defects (173 shoulders), there were 7 recurrences (4% recurrence rate). For the group with significant bone defects (21 patients), there were 14 recurrences (67% recurrence rate). For contact athletes without significant bone defects, there was a 6.5% recurrence rate, whereas for contact athletes with significant bone defects, there was an 89% recurrence rate. (1) Arthroscopic Bankart repairs give results equal to open Bankart repairs if there are no significant structural bone deficits (engaging Hill-Sachs or inverted-pear Bankart lesions). (2) Patients with significant bone deficits as defined in this study are not candidates for arthroscopic Bankart repair. (3) Contact athletes without structural bone deficits may be treated by

  18. ˝FLUMINENSIA˝ VON FRAN KURELAC

    Directory of Open Access Journals (Sweden)

    Leopoldina Veronika Banaš

    1990-01-01

    Full Text Available Das Buch "Fluminensia" (1862 von Fran Kurelac enthält die für die Schulfestlichkeiten geschriebenen Reden, Gelegenheitsgedichte - Ehrengedichte den bedeutenden und verdienstvollen Zeitgenossen gewidmet: dem Bischof von Senj und Modrus" Mirko Ožegović, Bartol Zmajic von Bakar, dem kroatischen Ban Josip Jelačić u.a. Danach folgen Aufrufe ("Proglasi" aus stürmischem 1848, gerichtet auf die Granzlandbewohner, Deutscher, ungarische Kroaten, Rumänen und Slawonier. Die Aufrufe wurden von Kurelac im Namen der Banalregierung beschrieben. Am Ende des Buches steht eine sprachwissenschaftliche Abhandlung über die ubstantivbiegung. Die für die Schulfestlichkeiten geschreibenen Reden sind wissenschaftliche Inhalte, essaystisch-didaktisch gestalltet, mit der Meldung über die Bedeutung der Wisenschaft, über die Bedeutung und Rolle der Sprache und des Buches für den Fortschritt des Volkes. Der Verfasser widmete dieses Buch seinen ehemaligen Schülern. "Fluminensia" nimmt eine wichtige Stelle in literarischer und sprachwissenschaftlicher Schöpfung auf dem Gebiet von Rijeka und Kroatien im 19. Jahrhundert ein.

  19. Privatiserung von Geschichte. Probleme einer differenzierten Aufarbeitung

    Directory of Open Access Journals (Sweden)

    Birthe Kundrus

    2000-11-01

    Full Text Available Ausgangspunkt der Untersuchung von Vera Neumann ist die These, daß im Krieg Erlebtes und Erlittenes in den Wiederaufbau- und Wirtschaftswunderjahren Westdeutschlands einem Thematisierungstabu unterlegen sei. Anhand von 50 Interviews, die in den 80er Jahren im Rahmen des von Lutz Niethammer geleiteten Projekts „Lebensgeschichte und Sozialgeschichte im Ruhrgebiet 1930–1960“ (LUSIR entstanden sind und die sie jetzt anhand der Tonbandprotokolle und Abschriften ein zweites Mal auswertet, möchte die Historikerin diese Verschüttungen aufspüren. Im Anschluß an Niethammers These der „Privatisierung von Geschichte“ will sie zeigen, daß seelische und körperliche Kriegsfolgen wie Deprivations- und Überlastungsgefühle, der Verlust von Angehörigen und Kriegsbeschädigungen „privatisiert“, d.h. an die Familien übertragen wurden. Dort seien dann in erster Linie die weiblichen Familienmitglieder mit der Versorgungs- und Pflegearbeit konfrontiert worden. An vier Fallbeispiele schließt sich eine detaillierte Auswertung des gesamten Interviewmaterials an. Diesen Teilen folgt ein Abschnitt zur staatlichen Kriegsopferversorgung in der frühen Bundesrepublik.

  20. A new von Mises probabilistic formula for quartet invariants

    International Nuclear Information System (INIS)

    Giacovazzo, C.; Camalli, M.; Spagna, R.

    1989-01-01

    Von Mises formulas for quartet invariants, even is useful in most cases of practical interest, suffer from some systematic errors. A new von Mises formula is suggested with better theoretical features. (orig.)

  1. Kerttu Wagner. Die historischen romane von Jaan Kross / Wolfgang Drechsler

    Index Scriptorium Estoniae

    Drechsler, Wolfgang, 1963-

    2001-01-01

    Arvustus: Wagner, Kerttu. Die historischen Romane von Jaan Kross : am Beispiel einer Untersuchung der deutschen und englischen Übersetzungen von "Professor Martensi ärasõit" (1984). Frankfurt am Main [etc.] : P. Lang, 2001.

  2. IAS 25, Bilanzierung von Finanzinvestitionen (Accounting for Investments)

    OpenAIRE

    Steiner, Manfred

    1997-01-01

    IAS 25, Bilanzierung von Finanzinvestitionen (Accounting for Investments). - In: Rechnungslegung nach International Accounting Standards (IAS) / hrsg. von Jörg Baetge ... - Stuttgart : Schäffer-Poeschel, 1997. - S. 923-953

  3. Borel reductibility and classification of von neumann algebras

    DEFF Research Database (Denmark)

    Sasyk, R.; Törnquist, Asger Dag

    2009-01-01

    We announce some new results regarding the classification problem for separable von Neumann algebras. Our results are obtained by applying the notion of Borel reducibility and Hjorth's theory of turbulence to the isomorphism relation for separable von Neumann algebras....

  4. Medien und Berufsvorstellungen von Kindern: eine experimentelle Studie zum Einfluss von Kinderbüchern auf das Berufsspektrum von Kindergartenkindern

    OpenAIRE

    Brüggemann, Tim; Gehrau, Volker; Handrup, Jutta

    2015-01-01

    "Der Beitrag thematisiert zunächst den Stand der beruflichen Orientierung von Jugendlichen sowie die pädagogischen Bemühungen beim Übergang Schule-Beruf, insbesondere im Hinblick auf eine Erweiterung des häufig engen Spektrums von Berufen, die bei der Berufswahl berücksichtig werden. Dabei richten sich die Bestrebungen, diesem Problem entgegenzuwirken, bislang vor allem auf Jugendliche. Anschließend wird anhand vorliegender Ergebnisse aus der Medienforschung diskutiert, in welcher Weise Masse...

  5. Doença de von Willebrand e anestesia Enfermedad de von Willebrand y anestesia Von Willebrand's disease and anesthesia

    Directory of Open Access Journals (Sweden)

    Fabiano Timbó Barbosa

    2007-06-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: A doença de von Willebrand ocorre devido à mutação no cromossomo 12 e é caracterizada por deficiência qualitativa ou quantitativa do fator de von Willebrand. A diversidade de mutações leva ao aparecimento das mais variadas manifestações clínicas possibilitando a divisão dos pacientes em vários tipos e subtipos clínicos. A coagulopatia se manifesta basicamente através da disfunção plaquetária associada à diminuição dos níveis séricos do fator VIII coagulante. O objetivo dessa revisão foi mostrar os cuidados relacionados aos pacientes portadores da doença de von Willebrand durante o período perioperatório. CONTEÚDO: Foram definidas as características da doença de von Willebrand quanto à fisiopatologia, à classificação, ao diagnóstico laboratorial, ao tratamento atual e aos cuidados com o manuseio do paciente no período perioperatório. CONCLUSÕES: A doença de von Willebrand é o distúrbio hemorrágico hereditário mais comum, porém ela é subdiagnosticada pela complexidade da própria doença. A correta classificação do paciente, o uso apropriado da desmopressina e a transfusão do fator de von Willebrand são medidas fundamentais para a realização do procedimento anestésico bem-sucedido.JUSTIFICATIVA Y OBJETIVOS: La enfermedad de von Willebrand ocurre debido a la mutación en el cromosoma 12 y se caracteriza por la deficiencia cualitativa o cuantitativa del factor de von Willebrand. La diversidad de mutaciones conlleva al aparecimiento de las más variadas manifestaciones clínicas posibilitando la división de los pacientes en varios tipos y subtipos clínicos. La coagulopatía se manifiesta básicamente a través de la disfunción plaquetaria asociada con la disminución de los niveles séricos del factor VIII coagulante. El objetivo de esa revisión fue mostrar los cuidados relacionados con las pacientes portadoras de la enfermedad de von Willebrand durante el per

  6. Gemeinsam hilfreich oder einsam lästig? Beurteilung von praktikumsbegleitenden Weblogs von angehenden Lehrpersonen

    Directory of Open Access Journals (Sweden)

    Nives Egger

    2017-02-01

    Full Text Available Weblogs werden an Hochschulen vermehrt zur Unterstützung von Lern- und Reflexionsprozessen eingesetzt, in der Lehrer/innenbildung auch zunehmend während der berufspraktischen Ausbildung. Die Studierenden beurteilen den Einsatz von Weblogs jedoch unterschiedlich. Dabei ist wenig bekannt, welchen Einfluss die Vergabe und das Erhalten von Peerfeedback auf den Beurteilungsprozess von praktikumsbegleitenden Weblogs sowie auf den Umfang von Blogpostings haben. Im folgenden Beitrag wird dieser Frage mittels einer Befragung von 74 angehenden Lehrpersonen nachgegangen, die praktikumsbegleitende Weblogs mit oder ohne Peerfeedback nutzten, um über herausfordernde Ereignisse im Praktikum zu reflektieren. Die Ergebnisse zeigen, dass Studierende, die Peerfeedback erhielten und andere Blogbeiträge kommentierten, den Weblogeinsatz nützlicher einschätzen sowie eine höhere Motivation und positivere Einstellung gegenüber den Einsatz von Weblogs aufweisen als Studierende, die ohne Peerfeedback bloggen. Keinen Einfluss hat Peerfeedback auf den Umfang der Blogbeiträge und auf die dafür aufgewendete Zeit.

  7. Von Willebrand protein binds to extracellular matrices independently of collagen.

    OpenAIRE

    Wagner, D D; Urban-Pickering, M; Marder, V J

    1984-01-01

    Von Willebrand protein is present in the extracellular matrix of endothelial cells where it codistributes with fibronectin and types IV and V collagen. Bacterial collagenase digestion of endothelial cells removed fibrillar collagen, but the pattern of fibronectin and of von Willebrand protein remained undisturbed. Exogenous von Willebrand protein bound to matrices of different cells, whether rich or poor in collagen. von Willebrand protein also decorated the matrix of cells grown in the prese...

  8. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

    Science.gov (United States)

    Shapiro, Barbara E; Pastores, Gregory M; Gianutsos, John; Luzy, Cécile; Kolodny, Edwin H

    2009-06-01

    To evaluate the safety and efficacy of miglustat in patients with GM2 gangliosidosis. A randomized, multicenter, open-label, 12-month study involving patients aged 18 years or older, randomized 2:1 to miglustat (200 mg TID) or "no miglustat treatment." This study was followed by 24 months of extended treatment during which all patients received miglustat. Primary efficacy endpoints were change in eight measures of isometric muscle strength in the limbs and isometric grip strength, evaluated at baseline, and months 12 and 36. Secondary efficacy endpoints included gait, balance, disability, and other neurological assessments. Safety evaluations included adverse event reporting. Thirty patients (67% male, age range 18-56 years) with late-onset Tay-Sachs disease were enrolled; 20 were randomized to miglustat and 10 to "no miglustat treatment." Muscle and grip strength generally decreased over the study period. No differences were observed between the two groups in any efficacy measure, either during the 12-month randomized phase or the full 36 months. The most common treatment-related adverse events were decrease in weight and diarrhea. Miglustat treatment was not shown to lead to measurable benefits in this cohort of patients with late-onset Tay-Sachs disease. The observed safety profile was consistent with that of the approved dose (100 mg TID) in type 1 Gaucher disease.

  9. In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease.

    Science.gov (United States)

    Kato, Atsushi; Nakagome, Izumi; Nakagawa, Shinpei; Kinami, Kyoko; Adachi, Isao; Jenkinson, Sarah F; Désiré, Jérôme; Blériot, Yves; Nash, Robert J; Fleet, George W J; Hirono, Shuichi

    2017-11-15

    The affinity of a series of iminosugar-based inhibitors exhibiting various ring sizes toward Hex A and their essential interactions with the enzyme active site were investigated. All the Hex A-inhibiting iminosugars tested formed hydrogen bonds with Arg178, Asp322, Tyr421 and Glu462 and had the favorable cation-π interaction with Trp460. Among them, DMDP amide (6) proved to be the most potent competitive inhibitor with a K i value of 0.041 μM. We analyzed the dynamic properties of both DMDP amide (6) and DNJNAc (1) in aqueous solution using molecular dynamics (MD) calculations; the distance of the interaction between Asp322 and 3-OH and Glu323 and 6-OH was important for stable interactions with Hex A, reducing fluctuations in the plasticity of the active site. DMDP amide (6) dose-dependently increased intracellular Hex A activity in the G269S mutant cells and restored Hex A activity up to approximately 43% of the wild type level; this effect clearly exceeded the border line treatment for Tay-Sachs disease, which is regarded as 10-15% of the wild type level. This is a significantly greater effect than that of pyrimethamine, which is currently in Phase 2 clinical trials. DMDP amide (6), therefore, represents a new promising pharmacological chaperone candidate for the treatment of Tay-Sachs disease.

  10. [Anja Wilhelmi. Lebensweltlen von Frauen der deutschen Oberschicht im Baltikum (1800-1939). Eine Untersuchung anhand von Autobiographien] / Alexander Ewig

    Index Scriptorium Estoniae

    Ewig, Alexander, 1980-

    2011-01-01

    Arvustus: Wilhelmi, Anja. Lebenswelten von Frauen der deutschen Oberschicht im Baltikum (1800-1939). Eine Untersuchung anhand von Autobiographien. (Veröffentlichungen des Nordost-Instituts, 10.) (Wiesbaden : HArrassowitz 2008)

  11. Gasification of liquid manure; Vergasung von Guelle

    Energy Technology Data Exchange (ETDEWEB)

    Gudenau, H.W.; Hoberg, H.; Hirsch, U. [Technische Hochschule Aachen (Germany). Inst. fuer Eisenhuettenkunde

    1996-12-31

    The potential of thermal use of liquid manure is investigated. It is recommended to separate the liquid and solid fraction. While the liquid fraction can be used as fertilizer, the solid fraction can be used for generating a fuel gas for combined heat and power generation. (orig) [Deutsch] Die Untersuchungen haben ergeben, dass in der thermischen Verwertung von Guelle ein bisher nur wenig genutztes Potential vorliegt. Die zum Anbau von Getreide notwendige Duengung kann durch Separation von Guelle in Fest- und Duennfraktion effektiver und kostenguenstiger durchgefuehrt werden. Der Naehrstoffgehalt des Guellefeststoffs sollte durch thermische Aufbereitung aufkonzentriert werden, so dass eine Vermarktung auch mit laengeren Transpoertwegen darstellbar ist. Die bei der thermischen Behandlung gewonnene Waerme kann prozessintern genutzt und ueberschuessige Waerme an Abnehmer in der naeheren Umgebung geliefert werden. Genauso besteht die Moeglichkeit, ein Brenngas zu erzeugen und die Energie mit Kraft-Waerme-Kopplung zu nutzen. (orig)

  12. Gasification of liquid manure; Vergasung von Guelle

    Energy Technology Data Exchange (ETDEWEB)

    Gudenau, H W; Hoberg, H; Hirsch, U [Technische Hochschule Aachen (Germany). Inst. fuer Eisenhuettenkunde

    1997-12-31

    The potential of thermal use of liquid manure is investigated. It is recommended to separate the liquid and solid fraction. While the liquid fraction can be used as fertilizer, the solid fraction can be used for generating a fuel gas for combined heat and power generation. (orig) [Deutsch] Die Untersuchungen haben ergeben, dass in der thermischen Verwertung von Guelle ein bisher nur wenig genutztes Potential vorliegt. Die zum Anbau von Getreide notwendige Duengung kann durch Separation von Guelle in Fest- und Duennfraktion effektiver und kostenguenstiger durchgefuehrt werden. Der Naehrstoffgehalt des Guellefeststoffs sollte durch thermische Aufbereitung aufkonzentriert werden, so dass eine Vermarktung auch mit laengeren Transpoertwegen darstellbar ist. Die bei der thermischen Behandlung gewonnene Waerme kann prozessintern genutzt und ueberschuessige Waerme an Abnehmer in der naeheren Umgebung geliefert werden. Genauso besteht die Moeglichkeit, ein Brenngas zu erzeugen und die Energie mit Kraft-Waerme-Kopplung zu nutzen. (orig)

  13. Spectral theory and quotients in Von Neumann algebras | West ...

    African Journals Online (AJOL)

    In this note we consider to what extent the functional calculus and the spectral theory in von Neumann algebras are preserved by the taking of quotients relative to two-sided ideals of the von Neumann algebra. Keywords:von Neumann algebra, functional calculus, spectral theory, quotient algebras. Quaestiones ...

  14. Der Einfluss von sozialer Ungleichheit und kulturellen Unterschieden auf die Wahrnehmung von finanziellen und Arbeitsplatzrisiken: Überlegungen zur Risikogesellschaft

    OpenAIRE

    Abbott, David; Quilgars, Deborah; Jones, Anwen

    2006-01-01

    Der vorliegende Artikel beruht auf Daten einer Studie, die sich mit der Frage beschäftigt, wie verschiedene soziale und kulturelle Gruppen die Risiken von Einkommens- und Arbeitsplatzverlust wahrnehmen und darauf reagieren. Autoren wie LASH, DOUGLAS und LUPTON betonten die Bedeutung von Gruppenzugehörigkeit und sozialen Kategorien für die Strukturierung der Reaktionsweisen auf verschiedene Risikoarten. Sie sprechen daher lieber von Risikokulturen als von der Risikogesellschaft. Trotzdem erken...

  15. Bewertung von Fahrzeuggeräuschen

    Science.gov (United States)

    Genuit, Klaus; Schulte-Fortkamp, Brigitte; Fiebig, André; Haverkamp, Michael

    Bei der Wahrnehmung und Beurteilung eines Automobils sind unzählige Merkmale und Eigenschaften von Bedeutung. Dabei können Merkmale objektiv-technisch beschrieben werden, wie Angaben zur Motorisierung, Höchstgeschwindigkeit, Drehmoment, zulässige Zuladung, Verbrauch usw. Daneben sind weitere Eigenschaften von Bedeutung, die sich einer einfachen objektiv-technischen Beschreibung entziehen. Hier sind Begriffe zu nennen, wie Sicherheit, allgemeine Qualitätsanmutung, Design, Ergonomie, Komfort, Haptik, Fahrdynamik, Zuverlässigkeit, die deutlich schwieriger objektiv erfassbar und beschreibbar sind (Abb. 4.1).

  16. Asymptotic analysis of a von Koch beam

    International Nuclear Information System (INIS)

    Carpinteri, Alberto; Pugno, Nicola; Sapora, Alberto

    2009-01-01

    Fractal geometry is used in diverse research areas, being an useful tool in describing the mechanical behaviour of natural and man-made structures. In this paper, the structural behaviour of a von Koch cantilever beam is analyzed in the small deformations regime. Analytical recursive formulae for the strain energy scaling are derived, which have been found in good agreement with numerical simulations. Energy considerations suggest a peculiar scaling for the beam rigidity in order to prevent compliance divergence. The results are then extended to evaluate the stiffness matrix of a von Koch beam.

  17. Von Mumien, Cyborgs und Röntgenbildern

    Directory of Open Access Journals (Sweden)

    Regina Schleicher

    2004-03-01

    Full Text Available Unter dem Titel Techniken der Reproduktion liegt ein Sammelband vor, der die Beiträge einer Tagung an der Universität Paderborn vom Dezember 2001 enthält. In enger Verknüpfung verschiedener disziplinärer Perspektiven werden Schlaglichter auf eine Vielzahl von Themen geworfen, die sich mit dem Begriff „Reproduktion“ verbinden. Dabei wird deutlich, wie eng die Geschichte der Medien und die Entwicklung von Technologien der biologischen Fortpflanzung miteinander verzahnt sind.

  18. Die Verteilung und Eigenschaften von Bodenformen in der Deutschen Bucht, eine Rekonstruktion der Karten von Ulrich (1973)

    DEFF Research Database (Denmark)

    Winter, Christian; Lefebvre, Alice; Benninghoff, Markus

    2015-01-01

    Entstehung, Gestalt und Dynamik von Bodenformen in vergleichsweise kleinen Untersuchungsgebieten ist die Arbeit von ULRICH (1973) über die Verteilung von Bodenformen in der Deutschen Bucht bis heute die einzige verfügbare zusammenhängende Darstellung für die deutsche Nordseeküste. Die analogen Karten und die...

  19. Evaluation von Bildungssoftware im Spannungsfeld von Objektivität und praktischer Anwendung

    Directory of Open Access Journals (Sweden)

    Cornelia Biffi

    2002-05-01

    Full Text Available Das Angebot an Bildungs- bzw. Lernsoftware umfasst eine breite Palette von sehr unterschiedlichen Produkten. Eigentliche Unterrichtssoftware, die speziell für den Unterricht hergestellt und auf Lehrmittel und Curriculum abgestimmt ist, gibt es kaum. Im Projekt «Lernsoftware Evaluation» des Pestalozzianums Zürich ermitteln Lehrpersonen die Qualität von Bildungssoftware, indem sie diese im Unterricht einsetzen und anhand eines Kriterienrasters beurteilen. Eine Analyse der in der Evaluation generierten Daten belegt die Problematik des Anspruchs einer objektiven Qualitätsbeurteilung. Es werden die Probleme bei der Anwendung von Kriterienraster und Beurteilungsmodus aufgezeigt und ermittelt, worin die subjektiven Qualitätsmassstäbe der Evaluierenden begründet sind. Diese Ausführungen sind Teil eines Forschungsprojekts für die Weiterentwicklung einer theoretisch fundierten, aber dennoch praxisnahen Evaluation von Bildungssoftware.

  20. Von der Medienwirkungsbehauptung zur erziehungswissenschaftlichen Medienrezeptionsforschung. Vorschlag zur Analyse von Filmkommunikaten

    Directory of Open Access Journals (Sweden)

    Barbara Drinck

    2001-04-01

    Full Text Available Im Hinblick auf die Erforschung spezifischer Zusammenhänge von Medienkonsum und der Herausbildung von Einstellungen und Handlungen wird eine konstruktivistische Theorieorientierung plausibilisiert, indem zunächst auf den Stand der Medienwirkungsforschung eingegangen und vor dem Hintergrund einer begründeten Kritik des Wirkungsverständnisses auf die Notwendigkeit einer medienrezeptionswissenschaftlichen Forschungsalternative hingewiesen wird. Weiterhin wird der Stand der (erziehungswissenschaftlichen Medienrezeptionsforschung erörtert. Sodann werden Elemente einer konstruktivistischen Methodologie von Medienrezeptionsforschung beschrieben, die am Beispiel der Rezeption von Filmen konkretisiert werden. Dabei wird das Konzept des Kommunikates (S.J. Schmidt als Ausgangspunkt genommen, ein Vorschlag für eine Beschreibungssprache für (Film- Kommunikate entwickelt und eine Adaption des Ansatzes filmischer Narration zur Sprache gebracht.

  1. Erzeugung gleichverteilter Stichproben von Lozenge-Teilungen mittels Kopplung von Markovketten

    OpenAIRE

    Keller, Peter

    2011-01-01

    Aus dem Inhalt: 1 Einleitung 2 Eigenschaften der Lozengeteilungen 3 Coupling From The Past (CFTP) 4 Simulation von uniform verteilten Lozengeteilungen 5 Programmlisting und Diskussion der Implementierung 6 Ausblick A Anhang

  2. Der Briefwechsel zwischen Alexander von Humboldt und Karl Ernst von Baer

    Directory of Open Access Journals (Sweden)

    Thomas Schmuck

    2012-10-01

    Full Text Available Zusammenfassung Der kurze, nicht vollständig erhaltene Briefwechsel zwischen Alexander von Humboldt und Karl Ernst von Baer behandelt sehr verschiedene Themen: Politik, Kriegsgefahr, den Wissenschaftsbetrieb, Auszeichnungen und Tagungen, Embryologie und Cholera. Gemeinsam mit Briefen und Reden ergibt sich dabei ein differenziertes Bild der Beurteilung der beiden Wissenschaftler durch den jeweils anderen. Während Baer sich als Bewunderer Humboldts erweist, erscheint umgekehrt Humboldts Einschätzung Baers als ambivalent. Abstract The short, not completely preserved correspondence between Alexander von Humboldt and Karl Ernst von Baer deals with a wide range of subjects: politics and the danger of war, academic activities, scientific awards and conferences, aspects of embryology and the cholera. Letters to third persons and speeches, together with the correspondence between Humboldt and Baer show a differentiated pattern of mutual appraisal: While Baer always remained an admirer of the elder naturalist, Humboldt’s estimation was characterized by ambivalence.

  3. Untersuchungen zur Entwicklung von Satellitengalaxien

    Science.gov (United States)

    Seidel, Björn

    2002-01-01

    Gleichgewichtsmodelle ein- und zweikomponentiger Satellitengalaxien werden erzeugt und die Gezeiteneinwirkungen der als starres äußeres Potential angenommenen Milchstraße auf sie betrachtet. Eine erste Reihe von Simulationen mit anfänglich kugelsymmetrischen einkomponentigen Satelliten zeigt, daß sich nach elliptischer Deformation ein Balken und Schweife ungleicher Länge ausbilden, deren Aussehen sich periodisch ändert. Mithilfe von Vergleichssimulationen wurden folgende Phänomene am Satelliten entdeckt: (1) Hochdichtebereiche in den Schweifen, (2) Niedrigdichtebereiche um den Kern bzw. Balken und (3) ein oft verdeckter Balken. Analysiert wird das Erscheinungsbild in Zeitabhängigkeit. Die Teilchen gehen dem Kern über den Balken verloren und bewegen sich entlang gewisser stets gleich aussehender charakteristischer Strukturen in die Schweife. Nach einer Herleitung allgemeiner Größen des mehrkomponentigen Kingprofils werden drei stabile Standardmodelle zweikomponentiger Satellitengalaxien mit Massenverhältnis 1:10 (baryonische zu dunkle Materie) und unterschiedlicher Verteilung der dunklen und sichtbaren Materie gefunden. Ohne die Allgemeinheit der Ergebnisse zu beeinträchtigen, wurde dabei die Große Magellanische Wolke als Grundlage der Modelle genommen. Nach geeigneter Wahl der Bahn, zu der der Gezeitenradius des verwendeten dreikomponentigen Milchstraßenpotentials sowohl analytisch als auch numerisch berechnet wird, werden Simulationen der Modelle analysiert. Hauptaugenmerk ist das unterschiedliche Verhalten der Komponenten. Hauptergebnisse: (1) Es ist möglich, große Anteile dunkler, jedoch nur geringe sichtbarer Materie abzulösen. Dunkle und sichtbare Materie können unterschiedliche morphologische Strukturen bilden. (2) Je nach Konzentration der Komponenten ist die Eigengravitation der Teilchen mehr oder weniger für das Aussehen bestimmend. (3) Die Kernauflösung des Satelliten findet im Perigalaktikum (PG), sein Zerfall aber erst im

  4. A note on derivations of Murray–von Neumann algebras

    Science.gov (United States)

    Kadison, Richard V.; Liu, Zhe

    2014-01-01

    A Murray–von Neumann algebra is the algebra of operators affiliated with a finite von Neumann algebra. In this article, we first present a brief introduction to the theory of derivations of operator algebras from both the physical and mathematical points of view. We then describe our recent work on derivations of Murray–von Neumann algebras. We show that the “extended derivations” of a Murray–von Neumann algebra, those that map the associated finite von Neumann algebra into itself, are inner. In particular, we prove that the only derivation that maps a Murray–von Neumann algebra associated with a factor of type II1 into that factor is 0. Those results are extensions of Singer’s seminal result answering a question of Kaplansky, as applied to von Neumann algebras: The algebra may be noncommutative and may even contain unbounded elements. PMID:24469831

  5. A note on derivations of Murray-von Neumann algebras.

    Science.gov (United States)

    Kadison, Richard V; Liu, Zhe

    2014-02-11

    A Murray-von Neumann algebra is the algebra of operators affiliated with a finite von Neumann algebra. In this article, we first present a brief introduction to the theory of derivations of operator algebras from both the physical and mathematical points of view. We then describe our recent work on derivations of Murray-von Neumann algebras. We show that the "extended derivations" of a Murray-von Neumann algebra, those that map the associated finite von Neumann algebra into itself, are inner. In particular, we prove that the only derivation that maps a Murray-von Neumann algebra associated with a factor of type II1 into that factor is 0. Those results are extensions of Singer's seminal result answering a question of Kaplansky, as applied to von Neumann algebras: The algebra may be noncommutative and may even contain unbounded elements.

  6. Soolopartiid Von Krahli katuse all / Kristi Eberhart

    Index Scriptorium Estoniae

    Eberhart, Kristi

    2007-01-01

    Von Krahli Teatri kolmest lavastusest: "Erki ja Tiina" (lavastaja Mart Kangro, tantsivad Erki Laur ja Tiina Tauraite), "Faust" (J. W. Goethe ainetel tekst ja lavastus Taavi Eelmaa, muusika ja laulud Chalice, osades Jarek Kasar ja Rein Pakk), "Hamletid" (William Shakespeare'i ainetel kontseptsiooni, lavastuse, koreograafia, kujunduse, valguse autor Sasha Pepeljajev, video- ja helikunstnik Taavet Jansen. Esitaja Juhan Ulfsak)

  7. Alexander von Humboldt and Coenraad Jacob Temminck

    NARCIS (Netherlands)

    Raat, A.J.P.

    1976-01-01

    INTRODUCTION In the archives of the Rijksmuseum van Natuurlijke Historie in Leiden there is a map with three letters written by Alexander von Humboldt (17691859) to the first director of the Museum, Coenraad Jacob Temminck (1778-1858). The map, the hard cover of John Gould's "Synopsis of the birds

  8. Differential functional von Foerster equations with renewal

    Directory of Open Access Journals (Sweden)

    H.Leszczyński

    2008-06-01

    Full Text Available Natural iterative methods converge to the exact solution of a differential-functional von Foerster-type equation which describes a single population dependent on its past time and state densities as well as on its total size. On the lateral boundary we impose a renewal condition.

  9. Wege zur Entdeckung von Communities in Folksonomies

    OpenAIRE

    Jäschke, Robert; Hotho, Andreas; Schmitz, Christoph; Stumme, Gerd

    2006-01-01

    Ein wichtiger Baustein des neu entdeckten World Wide Web - des "Web 2.0" - stellen Folksonomies dar. In diesen Systemen können Benutzer gemeinsam Ressourcen verwalten und mit Schlagwörtern versehen. Die dadurch entstehenden begrifflichen Strukturen stellen ein interessantes Forschungsfeld dar. Dieser Artikel untersucht Ansätze und Wege zur Entdeckung und Strukturierung von Nutzergruppen ("Communities") in Folksonomies.

  10. Hans von Engel and the ICPIG Conference

    International Nuclear Information System (INIS)

    Franklin, R.

    2000-01-01

    The history of the, organized by Hans von Engel, International Conference on Phenomena in Ionized Gases is presented: Oxford (1953), Delft (1955), Venice (1957), Uppsala (1959), Munich (1961), Oxford (1971) and Berlin (1977). Some organizational aspects, financial support and remarkable events like international prizes in field of plasma physics are given

  11. Guido von Pirquet: Austrian pioneer of astronautics

    Science.gov (United States)

    Sykora, F.

    1977-01-01

    The works of Guido von Pirquet, Austrian pioneer of rocketry, were assessed. Major emphasis was given to Pirquet's calculation of the route to Venus which in fact was followed by the first Russian rocket to Venus. Of interest also is Pirquet's valuable construction of a space station and his analysis of interstellar space flight.

  12. Ueberreste vorweltlicher Proboscidier von Java und Banka

    NARCIS (Netherlands)

    Martin, K.

    1884-01-01

    Junghuhn führte in seinem Werke über Java nur einen einzigen Wirbelthierrest, Carcharias megalodon, an (7, IV, pag. 97); es war ihm nicht gelungen bei seinem ersten Aufenthalte auf der Insel Reste von Säugethieren zu finden, so eifrig er auch darnach in den Höhlen des Tertiaergebirges suchte (7, IV,

  13. Active Von Willebrand Factor, thrombocytopenia and thrombosis

    NARCIS (Netherlands)

    Hulstein, J.J.J.

    2006-01-01

    Platelets and von Willebrand factor (VWF) are unable to interact in circulation. To induce an interaction, a conversion of VWF to a platelet-binding conformation is required. At higher shear stresses, the first step in thrombus formation is binding of VWF to the subendothelium. This results in

  14. Ueber eine Anomalie von Acromitus flagellatus (Stiasny)

    NARCIS (Netherlands)

    Stiasny, G.

    1934-01-01

    Bei erneuter Durchsicht des reichhaltigen Materiales von Acromitus flagellatus (Stiasny) in der Scyphomedusen-Sammlung des Rijksmuseum van Natuurlijke Historie in Leiden (vergl. meine Mitteilungen daruber, 1920, Uebersichtstabelle III und 1921, p. 131/136) fand ich ein Exemplar, das eine

  15. Von Kalifornien nach Taxham / Katri Soe

    Index Scriptorium Estoniae

    Soe, Katri, 1971-

    2005-01-01

    Neljas osa magistritööst "Von Kalifornien nach Taxham: Formen und Strukturen der Kommunikation in Peter Handkes Romanen "Der kurze Brief zum langen Abschied" und "In einer dunklen Nacht ging ich aus meinem stillen Haus"" (Tartu, 2000. Juhendaja: Claus Sommerhage)

  16. Von der lernenden Region zur "Smart Region“

    OpenAIRE

    Poschwatta, Wolfgang

    2004-01-01

    Von der lernenden Region zur "Smart Region“ / M. Hilpert, W. Poschwatta. - In: Nabizadeh-Araghi, Nima : Auf dem Weg zur "Smart Region" : regionale Entwicklung am Beispiel der Pistazienproduktion im Iran. - Augsburg : Müllerdruck, 2004. - S. 5-9. - (Terra facta ; 2)

  17. Tay-Sachs Disease

    Science.gov (United States)

    ... better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms. Specific research on the gangliodisoses including expanding the use of ...

  18. Tay-Sachs Disease

    Science.gov (United States)

    ... During the next months — or even years — the baby will progressively lose the ability to see, hear, and move. A red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things. By ...

  19. Classification of Kantowski-Sachs and Bianchi Type III Space-Times According to Their Killing Vector Fields in Teleparallel Theory of Gravitation

    International Nuclear Information System (INIS)

    Shabbir, Ghulam; Khan, Suhail

    2010-01-01

    In this paper we classify Kantowski-Sachs and Bianchi type III space-times according to their teleparallel Killing vector fields using direct integration technique. It turns out that the dimension of the teleparallel Killing vector fields are 4 or 6, which are the same in numbers as in general relativity. In case of 4 the teleparallel Killing vector fields are multiple of the corresponding Killing vector fields in general relativity by some function of t. In the case of 6 Killing vector fields the metric functions become constants and the Killing vector fields in this case are exactly the same as in general relativity. Here we also discuss the Lie algebra in each case. (general)

  20. Orientation relationship in various 9% Cr ferritic/martensitic steels-EBSD comparison between Nishiyama-Wassermann, Kurdjumov-Sachs and Greninger-Troiano

    International Nuclear Information System (INIS)

    Barcelo, F.; Bechade, J. L.; Fournier, B.

    2010-01-01

    EBSD measurements were carried out on four different martensitic steels (T91, P92, EM10 and Eurofer) in various metallurgical conditions (nine different microstructural states). The usual orientation relationships (ORs) between the parent austenitic phase and the resulting martensite in martensitic steels are those of Nishiyama-Wassermann (NW) and Kurjumov-Sachs (KS). The present study first proposes a methodology based on the combined analysis of the misorientation distribution, the pole figures (PFs) and the angle/axis pairs. This methodology leads to the conclusion that neither NW nor KS relationships are able to account for all the features observed whatever the material under study. A third OR proposed by Greninger and Troiano (GT) proves to describe the relationship between austenite and ferrite in all four different martensitic steels much more accurately. (authors)

  1. Crystallographic Structure of Human β-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of GM2 Ganglioside Hydrolysis

    Science.gov (United States)

    Lemieux, M. Joanne; Mark, Brian L.; Cherney, Maia M.; Withers, Stephen G.; Mahuran, Don J.; James, Michael N. G.

    2010-01-01

    Lysosomal β-hexosaminidase A (Hex A) is essential for the degradation of GM2 gangliosides in the central and peripheral nervous system. Accumulation of GM2 leads to severely debilitating neurodegeneration associated with Tay-Sachs disease (TSD), Sandoff disease (SD) and AB variant. Here, we present the X-ray crystallographic structure of Hex A to 2.8 Å resolution and the structure of Hex A in complex with NAG-thiazoline, (NGT) to 3.25 Å resolution. NGT, a mechanism-based inhibitor, has been shown to act as a chemical chaperone that, to some extent, prevents misfolding of a Hex A mutant associated with adult onset Tay Sachs disease and, as a result, increases the residual activity of Hex A to a level above the critical threshold for disease. The crystal structure of Hex A reveals an αβ heterodimer, with each subunit having a functional active site. Only the α-subunit active site can hydrolyze GM2 gangliosides due to a flexible loop structure that is removed post-translationally from β, and to the presence of αAsn423 and αArg424. The loop structure is involved in binding the GM2 activator protein, while αArg424 is critical for binding the carboxylate group of the N-acetyl-neuraminic acid residue of GM2. The β-subunit lacks these key residues and has βAsp452 and βLeu453 in their place; the β-subunit therefore cleaves only neutral substrates efficiently. Mutations in the α-subunit, associated with TSD, and those in the β-subunit, associated with SD are discussed. The effect of NGT binding in the active site of a mutant Hex A and its effect on protein function is discussed. PMID:16698036

  2. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

    Science.gov (United States)

    Gort, Laura; de Olano, Natalia; Macías-Vidal, Judit; Coll, M A Josep

    2012-09-10

    The GM2 gangliosidoses are autosomal recessive lysosomal storage diseases caused by a deficiency of the β-hexosaminidase A enzyme. This enzyme is composed of two polypeptide chains designated the α- and β- subunits and it interacts with the GM2 activator protein. The HEXA and HEXB genes encode the α-subunit and the β-subunit, respectively. Mutations in these genes are causative of Tay-Sachs disease (HEXA) and Sandhoff disease (HEXB). We analyzed the complete HEXA gene in 34 Spanish patients with Tay-Sachs disease and the HEXB gene in 14 Spanish patients with Sandhoff disease. We identified 27 different mutations, 14 of which were novel, in the HEXA gene and 14 different mutations, 8 of which unreported until now, in the HEXB gene, and we attempted to correlate these mutations with the clinical presentation of the patients. We found a high frequency of c.459+5G>A (IVS4+5G>A) mutation in HEXA affected patients, 22 of 68 alleles, which represent the 32.4%. This is the highest percentage found of this mutation in a population. All patients homozygous for mutation c.459+5G>A presented with the infantile form of the disease and, as previously reported, patients carrying mutation p.R178H in at least one of the alleles presented with a milder form. In HEXB affected patients, the novel deletion c.171delG accounts for 21.4% of the mutant alleles (6/28). All patients with this deletion showed the infantile form of the disease. The Spanish GM2 gangliosidoses affected patients show a great mutational heterogeneity as seen in other inherited lisosomal diseases in this country. Copyright © 2012. Published by Elsevier B.V.

  3. Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.

    Science.gov (United States)

    Rountree, J S Shane; Butters, Terry D; Wormald, Mark R; Boomkamp, Stephanie D; Dwek, Raymond A; Asano, Naoki; Ikeda, Kyoko; Evinson, Emma L; Nash, Robert J; Fleet, George W J

    2009-03-01

    N-Acetylhexosaminidases are of considerable importance in mammals and are involved in various significant biological processes. In humans, deficiencies of these enzymes in the lysosome, resulting from inherited genetic defects, cause the glycolipid storage disorders Tay-Sachs and Sandhoff diseases. One promising therapy for these diseases involves the use of beta-N-acetylhexosaminidase inhibitors as chemical chaperones to enhance the enzyme activity above sub-critical levels. Herein we describe the synthesis and biological evaluation of a potent inhibitor, 2-acetamido-1,4-imino-1,2,4-trideoxy-L-arabinitol (LABNAc), in a high-yielding 11-step procedure from D-lyxonolactone. The N-benzyl and N-butyl analogues were also prepared and found to be potent inhibitors. The enantiomers DABNAc and NBn-DABNAc were synthesised from L-lyxonolactone, and were also evaluated. The L-iminosugar LABNAc and its derivatives were found to be potent noncompetitive inhibitors of some beta-N-acetylhexosaminidases, while the D-iminosugar DABNAc and its derivatives were found to be weaker competitive inhibitors. These results support previous work postulating that D-iminosugar mimics inhibit D-glycohydrolases competitively, and that their corresponding L-enantiomers show noncompetitive inhibition of these enzymes. Molecular modelling studies confirm that the spatial organisation in enantiomeric inhibitors leads to a different overlay with the monosaccharide substrate. Initial cell-based studies suggest that NBn-LABNAc can act as a chemical chaperone to enhance the deficient enzyme's activity to levels that may cause a positive pharmacological effect. LABNAc, NBn-LABNAc, and NBu-LABNAc are potent and selective inhibitors of beta-N-acetylhexosaminidase and may be useful as therapeutic agents for treating adult Tay-Sachs and Sandhoff diseases.

  4. Wir zeigen andere Bilder von Frauen ...

    Directory of Open Access Journals (Sweden)

    Bettina Rulofs

    2010-03-01

    Full Text Available Der vorliegende Beitrag beleuchtet die Bedeutung der Geschlechterordnung im Prozess der sportmedialen Kommunikation. Im Kern geht es um die Frage, inwiefern im Prozess der medialen Vermittlung von Sport traditionelle Geschlechterstereotype aufrechterhalten werden oder Möglichkeiten der Irritation solcher Stereotype bestehen. Dazu werden verschiedene Ebenen des massenmedialen Kommunikationsprozesses in den Blick genommen: die Medienprodukte, die Öffentlichkeitsarbeit und Selbst-Präsentation der Sportler/innen, die Medienrezeption und die Herstellungsprozesse von Medien in den Sportredaktionen. This article illustrates the relevance of gender in processes of sports media communication. The question in focus is in what way traditional gender stereotypes are perpetuated in the process of media communication in sport and how such stereotypes can be irritated. Therefore different levels of mass media communication are considered: the media products, the public relations of athletes and the presentation of themselves as athletes, the media-reception and the production processes in sport departments of media institutions.

  5. The Molecular Genetics of von Willebrand Disease

    Directory of Open Access Journals (Sweden)

    Ergül Berber

    2012-12-01

    Full Text Available Quantitative and/or qualitative deficiency of von Willebrand factor (vWF is associated with the most common inherited bleeding disease von Willebrand disease (vWD. vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and environmental factors contribute to its complexity. vWD also has a complex molecular pathogenesis. Some vWF gene mutations are associated with the affected vWF biosynthesis and multimerization, whereas others are associated with increased clearance and functional impairment. Moreover, in addition to a particular mutation, type O blood may result in the more severe phenotype. The present review aimed to provide a summary of the current literature on the molecular genetics of vWD.

  6. The molecular genetics of von Willebrand disease.

    Science.gov (United States)

    Berber, Ergül

    2012-12-01

    Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and environmental factors contribute to its complexity. vWD also has a complex molecular pathogenesis. Some vWF gene mutations are associated with the affected vWF biosynthesis and multimerization, whereas others are associated with increased clearance and functional impairment. Moreover, in addition to a particular mutation, type O blood may result in the more severe phenotype. The present review aimed to provide a summary of the current literature on the molecular genetics of vWD. None declared.

  7. von Neumann's hypothesis concerning coherent states

    International Nuclear Information System (INIS)

    Zak, J

    2003-01-01

    An orthonormal basis of modified coherent states is constructed. Each member of the basis is an infinite sum of coherent states on a von Neumann lattice. A single state is assigned to each unit cell of area h (Planck constant) in the phase plane. The uncertainties of the coordinate x and the square of the momentum p 2 for these states are shown to be similar to those for the usual coherent states. Expansions in the newly established set are discussed and it is shown that any function in the kq-representation can be written as a sum of two fixed kq-functions. Approximate commuting operators for x and p 2 are defined on a lattice in phase plane according to von Neumann's prescription. (leeter to the editor)

  8. Theodor von Grotthuss’ Contribution to Electrochemistry

    International Nuclear Information System (INIS)

    Pauliukaite, Rasa; Juodkazytė, Jurga; Ramanauskas, Rimantas

    2017-01-01

    Freiherr Christian Johann Dietrich Theodor von Grotthuss (1785-1822) lived and worked in Lithuania. Inspired by Volta's pile he proposed the first theory of water electrolysis, which was published in 1805 in Rome. Michael Faraday acknowledged T. Grotthuss for this theory in his further investigations of electrolysis processes. Having studied in Germany and France Grotthuss brought science to province by establishing his laboratory in Gedučiai village in his mother's real estate. Lithuanian scientists are proud that life of Theodor von Grotthuss was related to this country. Many events to remember this prominent scientist are organised in Vilnius and other places. His works and example provided a good basis for further development of electrochemical science in Lithuania. Grotthuss insights into the mechanism of proton transport still are of great relevance to such areas of modern science as membrane biochemistry, energy conversion and storage.

  9. Inattentional blindness and the von Restorff effect.

    Science.gov (United States)

    Schmidt, Stephen R; Schmidt, Constance R

    2015-02-01

    Sometimes we fail to notice distinctive or unusual items (inattentional blindness), while other times we remember distinctive items more than expected items (the von Restorff effect). A three-factor framework is presented and tested in two experiments in an attempt to reconcile these seemingly contradictory phenomena. Memory for different types of unexpected stimuli was tested after an easy or difficult Stroop color-naming task. Highly arousing taboo words were well remembered even when the difficult Stroop task limited attentional resources. However, a conceptual isolation effect was only observed when the nature of the category change was highlighted by the Stroop task, the Stroop task was easy, and/or the isolated targets enjoyed a retrieval advantage relative to comparison targets. As proposed in the three-factor framework, the arousing qualities of the stimuli, the attentional demands of the primary task, and the relevance of isolated features at encoding and retrieval combine to produce inattentional blindness and the von Restorff effect.

  10. Verbesserung der Symmetrie von Hirnaufnahmen entlang der Sagittalebene

    Science.gov (United States)

    Ens, Konstantin; Wenzel, Fabian; Fischer, Bernd

    Die lokale Symmetrie von Hirnscans entlang der Sagittalebene zu ermitteln und zu modizifieren, ist für eine Reihe neurologischer Anwendungen interessant. Beispielsweise kann der voxelweise Vergleich von rechter und linker Hirnhälfte nur dann Aufschluss über die Lokalisierung von Läsionen geben, wenn durch Transformation ein Hirnscan eine möglichst hohe Symmetrie aufweist. Ein weiteres Anwendungsgebiet ist die Visualisierung von medialen Hirnschnitten, für die die Trennfläche beider Hirnhälfte möglichst eben sein sollte. Diese Arbeit stellt die Entwicklung eines Verfahrens vor, mit dessen Hilfe die Symmetrie von Hirnaufnahmen entlang der Sagittalebene verbessert werden kann. Dies geschieht unter Verwendung von aktiven Konturen, die mit Hilfe einer neuartigen Kostenfunktion gesteuert werden. Experimente am Ende der Arbeit mit strukturellen Kernspinaufnahmen demonstrieren die Leistungsfähigkeit des Verfahrens.

  11. Rohlin flows on Von Neumann algebras

    CERN Document Server

    Masuda, Toshihiko

    2016-01-01

    The authors will classify Rohlin flows on von Neumann algebras up to strong cocycle conjugacy. This result provides alternative approaches to some preceding results such as Kawahigashi's classification of flows on the injective type II_1 factor, the classification of injective type III factors due to Connes, Krieger and Haagerup and the non-fullness of type III_0 factors. Several concrete examples are also studied.

  12. Marktorientierte Vertriebs-Reorganisation von Energieversorgungsunternehmen

    OpenAIRE

    Beutin, Nikolas; Scholl, Michael; Fürst, Andreas

    2003-01-01

    Seit der Liberalisierung des Energiemarktes im Jahre 1998 sehen sich Energieversorgungsunternehmen (EVUs) einer veränderten Markt- und Wettbewerbssituation gegenüber. Neben Risiken, wie dem Eintritt von Wettbewerbern in das vormals geschützte Gebiet, eröffnete sich ihnen hierdurch aber auch die Chance, außerhalb des eigenen Netzbereiches neue Kunden zu gewinnen. Um sowohl dem Margenverfall als auch der direkten Vergleichbarkeit mit ...

  13. La Medea de Lars von Trier

    Directory of Open Access Journals (Sweden)

    Iratxe Fresneda Delgado

    2013-04-01

    Full Text Available El presente artículo analiza el modo en el que Lars von Trier recrea para el cine el estereotipo de Medea. Mediante el análisis fílmico de la película y apoyándose en los estudios culturales, el texto se interroga acerca de la importancia y el poder potencial del cine a la hora recuperar el antiguo mito y demostrar su vigencia. El análisis amplía horizontes para la compresión de los mecanismos que articulan el entramado de significados de la película, donde Von Trier aporta una nueva visión del arquetipo de Medea uniéndola, a la tradición pictórica del Romanticismo. Una influencia que habita en las posteriores obras del director danés, donde el paisaje, la naturaleza, se erige en elemento catalizador de las pulsiones humanas, en su cómplice y testigo.This paper explores the way that Lars von Trier’s film recreates the stereotype of Medea. Using film analysis and based on cultural studies the article asks about the importance and potential power of cinema to recover the ancient myth and show their effects. The analysis expands horizons for the understanding of the mechanisms that link the network of meanings of the film, where the author offers a new vision of Medea's archetype attaching it to the pictorial tradition tied to the Romanticism. An influence that can be seen in the later works of Lars von Trier, where the landscape, the nature, stands as a catalyst of human drives, as his accomplice and witness.

  14. Visuelle Analyse von E-mail-Verkehr

    OpenAIRE

    Mansmann, Florian

    2003-01-01

    Diese Arbeit beschreibt Methoden zur visuellen geographischen Analyse von E-mail Verkehr.Aus dem Header einer E-mail können Hostadressen und IP-Adressen herausgefiltert werden. Anhand einer Datenbank werden diesen Host- und IP-Adressen geographische Koordinaten zugeordnet.Durch eine Visualisierung werden in übersichtlicher Art und Weise mehrere tausend E-mail Routen dargestellt. Zusätzlich dazu wurden interktive Manipulationsmöglichkeiten vorgestellt, welche eine visuelle Exploration der Date...

  15. Zur Kenntnis von Gnetum neglectum Bl

    NARCIS (Netherlands)

    Markgraf, F.

    1960-01-01

    Gnetum neglectum war nicht nur, wie der Name andeutet, bis zu Blumes Zeit übersehen worden, sondern es wurde von Späteren wiederum verkannt, wie ich in Bull. J. B. Buitenzorg 3. Ser. 10 (1930) 474 näher ausgeführt habe. Die echte Art taucht verhältnismässig selten in den Herbarien auf. Sie ist eine

  16. Von Medien, Übertragungen und Automaten

    Directory of Open Access Journals (Sweden)

    Alessandro Barberi

    2013-12-01

    Full Text Available Im Zuge der Debatten zum Medialen Habitus wurde vielfach betont, dass die >Theorie der Praxispraxeologischen Medientheorie< des Medialen Habitus avant la lettre gesprochen werden kann. Dieser Artikel untersucht – ausgehend von den Debatten zur "Medienkompetenz" – wie Bourdieu Sprache, Sprechen und Diskurs, sowie Akteure, Felder und Habitus als Medien begreift und betont dabei die Nützlichkeit der Bourdieuschen Bildungssoziologie im Rahmen einer sozialwissenschaftlichen Grundlegung der Medienpädagogik.

  17. Portrait of Dr. Von Braun with Walt Disney, 1954.

    Science.gov (United States)

    1954-01-01

    Marshall Center Director Dr. Wernher Von Braun is pictured with Walt Disney during a visit to the Marshall Space Flight Center in 1954. In the 1950s, Dr. Von Braun while working in California on the Saturn project, also worked with Disney studios as a technical director in making three films about Space Exploration for television. Disney's tour of Marshall in 1965 was Von Braun's hope for a renewed public interest in the future of the Space Program at NASA.

  18. Gespiegelte Planeten – Die Anordnung der Pyramiden von Gizeh

    OpenAIRE

    Jelitto, Hans

    2000-01-01

    Antike Bauwerke wurden wiederholt auf astronomische Zusammenhänge hin untersucht, so z. B. ihre Ausrichtung in Bezug auf die Bewegung von Sonne oder Sternen. Vor diesem Hintergrund wurden für die Pyramiden von Gizeh drei ungewöhnliche Gleichungen entdeckt, die die Pyramidengrößen mit einer Genauigkeit von ca. 0,1 % festlegen. Gleichzeitig legen diese drei Gleichungen nahe, die drei Pyramiden in der Reihenfolge Mykerinos-, Chefren- und Cheopspyramide den inneren drei Planeten unseres Sonnensys...

  19. Saage tuttavaks : Elisabeth ja Karl von Hoerschelmann / Mai Levin

    Index Scriptorium Estoniae

    Levin, Mai, 1942-

    2004-01-01

    Kuraator M. Levin kuni 10. X 2004 Adamson-Ericu muuseumis avatud näitusest "Tuntud ja tundmatud Elisabeth von Rosendorff-Hoerschelmann ja Karl von Hoerschelmann". Enamik töid on kunstnike laste Konstantin Hoerschelmanni ja Anna Röder-Hoerschelmanni omand. Elisabeth Rosendorff (1898-1984) sündis Virumaal Maidlas eesti perekonnas, Karl von Hoerschelmann (1899-1951) Sevastoopolis saksa perekonnas

  20. Arbeitszeiten von Professorinnen und Professoren in Deutschland 2016

    OpenAIRE

    Weihs, Claus; Hernández Rodríguez, Tanja; Doeckel, Maximilian; Marty, Christoph; Wormer, Holger

    2018-01-01

    In dieser Studie werden belastbare Prognoseintervalle der wöchentlichen Gesamtarbeitszeit von Universitätsprofessorinnen und -professoren aus Daten einer Umfrage aus dem Jahre 2016 und a-priori Informationen aus früheren Studien bestimmt. Neben der Gesamtarbeitszeit werden auch Teilarbeitszeiten zum Beispiel für Lehre und Forschung ermittelt. Die Ergebnisse von frequentistischer und Bayesianischer Analyse werden verglichen. Aus den gültigen Fragebögen von aktiven Vollzeit arbeitenden Universi...

  1. Untersuchungen zur Farbreaktion von Amilorid, Chlorhexidin und Proguanil mit Hypobromit

    OpenAIRE

    Huth, Silke

    2004-01-01

    Bei der Reaktion von Amiloridhydrochlorid (1· HCl) mit Brom in alkalischer Lösung wird ein gelbbraunes Dehydrierungsprodukt erhalten, daß als 3-(3-Amino-1,2,4-oxadiazol-5-yl)-5-chlor-2,6-pyrazindiamin (6) identifiziert werden konnte. Durch Vergleich von Massen- und NMR-Spektren der Verbindung 6 mit Spektren von 1· HCl und Referenzsubstanzen I-III konnte auf die verbindung 6 geschlossen werden. Die Struktur wurde durch eine Röntgenstrukturanalyse abgesichert. Erhitzen von Amiloridhydrochlorid ...

  2. Chancen und Gefahren von Global-Marketing-Konzepten

    OpenAIRE

    Berndt, Ulrike

    1990-01-01

    Chancen und Gefahren von Global-Marketing-Konzepten. - Augsburg : Förderges. Marketing, 1990. - 57, XII S. - Zugl: Augsburg, Univ., Diplomarb. - (Arbeitspapiere zur Schriftenreihe Schwerpunkt Marketing ; 29)

  3. A bicategorical approach to Morita equivalence for von Neumann algebras

    International Nuclear Information System (INIS)

    Brouwer, R. M.

    2003-01-01

    We relate Morita equivalence for von Neumann algebras to the ''Connes fusion'' tensor product between correspondences. In the purely algebraic setting, it is well known that rings are Morita equivalent if they are equivalent objects in a bicategory whose 1-cells are bimodules. We present a similar result for von Neumann algebras. We show that von Neumann algebras form a bicategory, having Connes's correspondences as 1-morphisms, and (bounded) intertwiners as 2-morphisms. Further, we prove that two von Neumann algebras are Morita equivalent iff they are equivalent objects in the bicategory. The proofs make extensive use of the Tomita-Takesaki modular theory

  4. Der Einfluß der Ablauforganisation auf die Effizienz von Entscheidungen: Eine empirische Untersuchung am Beispiel von Bilanzanalysen

    OpenAIRE

    Gemünden, Hans Georg

    1987-01-01

    Der vorliegende Beitrag widmet sich einem in der Organisationstheorie stark vernachlässigten Problem: der Ablauforganisation von Entscheidungen. Am Beispiel von Bilanzanalysen wird empirisch geprüft, in welcher Weise eine Gliederung des Prozesses nach Verrichtungen oder Objekten die Qualität der Analyse beeinflußt. Hierzu wird ein validiertes Konzept zur Messung der Qualität von Bilanzanalysen entwickelt. Es wird gezeigt, wie man mittels prozeßbegleitender experimenteller Organisationsforschu...

  5. Beeinflussung der Wirkung von Ernährungsinformation durch Framing: Analyse am Beispiel von Folsäure

    OpenAIRE

    Lensch, Kathrin; Hartmann, Monika; Simons, Johannes

    2011-01-01

    Die Bereitstellung und verbrauchergerechte Aufbereitung von Informationen stellt eine Möglichkeit dar, Konsumenten darin zu unterstützen, Gesundheitsaspekte vermehrt in das Kauf- und Essverhalten zu integrieren. In der Verhaltensökonomik gelten Framing-Effekte als wichtige Bestimmungsfaktoren für die Wahrnehmung von Informationen. Im Rahmen des vorliegenden Beitrags werden Framing-Effekte am Beispiel von Ernährungsinformationen über Folsäure mit Hilfe eines Experiments untersucht. Die Ergebni...

  6. Philologie im Horizont der Geschichtlichkeit von Sprache und Text: zum Tagungsband von Wulf Oesterreicher und Maria Selig

    Directory of Open Access Journals (Sweden)

    Olaf Müller

    2016-03-01

    Full Text Available Wulf Oesterreicher und Maria Selig, Hrsg., Geschichtlichkeit von Sprache und Text: Philologien – Disziplingenese – Wissenschaftshistoriographie (Paderborn: Wilhelm Fink, 2014, 332 S.

  7. The bystander effect model of Brenner and Sachs fitted to lung cancer data in 11 cohorts of underground miners, and equivalence of fit of a linear relative risk model with adjustment for attained age and age at exposure

    International Nuclear Information System (INIS)

    Little, M P

    2004-01-01

    Bystander effects following exposure to α-particles have been observed in many experimental systems, and imply that linearly extrapolating low dose risks from high dose data might materially underestimate risk. Brenner and Sachs (2002 Int. J. Radiat. Biol. 78 593-604; 2003 Health Phys. 85 103-8) have recently proposed a model of the bystander effect which they use to explain the inverse dose rate effect observed for lung cancer in underground miners exposed to radon daughters. In this paper we fit the model of the bystander effect proposed by Brenner and Sachs to 11 cohorts of underground miners, taking account of the covariance structure of the data and the period of latency between the development of the first pre-malignant cell and clinically overt cancer. We also fitted a simple linear relative risk model, with adjustment for age at exposure and attained age. The methods that we use for fitting both models are different from those used by Brenner and Sachs, in particular taking account of the covariance structure, which they did not, and omitting certain unjustifiable adjustments to the miner data. The fit of the original model of Brenner and Sachs (with 0 y period of latency) is generally poor, although it is much improved by assuming a 5 or 6 y period of latency from the first appearance of a pre-malignant cell to cancer. The fit of this latter model is equivalent to that of a linear relative risk model with adjustment for age at exposure and attained age. In particular, both models are capable of describing the observed inverse dose rate effect in this data set

  8. Von den Liven von Oesel / August Ludwig Schlözer

    Index Scriptorium Estoniae

    Schlözer, August Ludwig

    2008-01-01

    Avaldatud Eberhard Winkleri initsiatiivil A. L. Schlözeri teose põhjal: Gesammelte Nachrichten von den Ueberresten der Liven, in Livland und Kurland. (1770), mis moodustab osa teosest: Schlözer, August Ludwig. M. Johann Joseph Haigold's Beylagen zum Neuveränderten Russland. Zweiter Theil. Riga und Leipzig, 1770

  9. Aino Lepik von Wiren / Aino Lepik von Wiren ; interv. Kadi Alatalu

    Index Scriptorium Estoniae

    Lepik von Wirén, Aino, 1961-

    2007-01-01

    Heinrich Marga eksiilvalitsuse (20.06.1990-7.10.1992) kohtuminister Aino Lepik von Wiren pagulaslapse elust Rootsis, haridusest ja elukutse valikust, tööst eksiilvalitsuses, tööleasumisest Eestisse 1992. aastal, seadusandlikust tegevusest ning aluse panekust välismaalaste- ja kodakondsuspoliitikale, naiste võimalustest poliitilisse tippu tõusmiseks, kodu- ja väliseestlaste vastandamisest

  10. Ööklubi Club von Überlingen = Club von Überlingen

    Index Scriptorium Estoniae

    2008-01-01

    Ööklubi Club von Überlingen (Madara 22A, Tallinn) sisekujundusest. Sisearhitekt: Taavi Aunre (Boom.ee OÜ). Taavi Aunrest, tema tähtsamad tööd. I-II korruse plaan, 11 värv. vaadet, foto T. Aunrest

  11. Polychaeten aus den Zoologischen Museen von Leiden und Amsterdam I

    NARCIS (Netherlands)

    Augener, H.

    1933-01-01

    In der vorliegenden Arbeit ist die Untersuchung eines sehr umfangreichen Polychaeten-Materials niedergelegt, das mir von Herrn Prof. Dr. E. D. van Oort in Leiden und Herrn Prof. Dr. L. F. de Beaufort in Amsterdam zur Bearbeitung übergeben wurde. Von diesem Material ist der dem Museum in Leiden

  12. [Hans Jakob Christoffel von Grimmelshausen. Saksa Simplicissimuse seiklused] / Meelis Friedenthal

    Index Scriptorium Estoniae

    Friedenthal, Meelis, 1973-

    2011-01-01

    Tutvustus: Grimmelshausen, Hans Jakob Christoffel von. Saksa Simplicissimuse seiklused, teisisõnu: ühe veidra vagabundi elulugu, kel Melchior Sternfels von Fuchshaim nimeks, et kus ja mis moel ta siia ilma sündis ning mida siin nägi, õppis, oma nahal tunda sai ja kannatas, nagu sellestki, miks ta siinsest ilmast vabatahtlikult loobub. [Tallinn] : Pegasus, c2010

  13. Von Neumann algebras as complemented subspaces of B(H)

    DEFF Research Database (Denmark)

    Christensen, Erik; Wang, Liguang

    2014-01-01

    Let M be a von Neumann algebra of type II1 which is also a complemented subspace of B( H). We establish an algebraic criterion, which ensures that M is an injective von Neumann algebra. As a corollary we show that if M is a complemented factor of type II1 on a Hilbert space H, then M is injective...

  14. An accurate von Neumann's law for three-dimensional foams

    NARCIS (Netherlands)

    Hilgenfeldt, Sascha; Kraynik, Andrew M.; Koehler, Stephan A.; Stone, Howard A.

    2001-01-01

    The diffusive coarsening of 2D soap froths is governed by von Neumann's law. A statistical version of this law for dry 3D foams has long been conjectured. A new derivation, based on a theorem by Minkowski, yields an explicit analytical von Neumann's law in 3D which is in very good agreement with

  15. Erfahrungen an der Schnittstelle von Medienarbeit und Praxisforschung

    Directory of Open Access Journals (Sweden)

    Peter Holzwarth

    2007-11-01

    Full Text Available Der Beitrag reflektiert die Verbindung von praktischer Medienarbeit und Forschung am Beispiel eines internationalen EU-Forschungsprojekts zum Thema Medien und Migration. Neben didaktischen Prinzipien und Konzepten für die aktive Medienarbeit im Forschungskontext geht es um die Kooperation von medienpädagogischer Begleitung (MB und wissenschaftlicher Begleitung (WB sowie um deren spezifische Kompetenzen.

  16. Die baltischen Kapitulationen von 1710 : Kontext, Wirkungen, Interpretationen / Marten Seppel

    Index Scriptorium Estoniae

    Seppel, Marten, 1979-

    2015-01-01

    Arvustus: Die baltischen Kapitulationen von 1710 : Kontext, Wirkungen, Interpretationen, hrsg. von Karsten Brüggemann, Mati Laur und Pärtel Piirimäe, Queleln und Studien zur baltischen Geschichte, Bd 23 (Köln u.a: Böhlau Verlag, 2014)

  17. [Precocious puberty and von Recklinghausen's disease].

    Science.gov (United States)

    Barg, Ewa; Wikiera, Beata; Basiak, Aleksander; Głab, Ewa

    2006-01-01

    Von Recklinghausen's disease belongs to a group of neurocutaneous syndromes and is characterised by skin, nerve and bone abnormalities. We present a case of von Recklinghausen's disease and precocious puberty in 7-year-old boy. At the age of three café au lait spots on the skin and an incranial tumour situated near the optic chiasm--qualified as inoperable--were discovered. At the age of 7 first signs of precocious puberty appeared (pubic hair P3 and enlargement of the testes (15 ml) and penis). Laboratory measurements included: LH 7.5 mIU/ml, FSH 1.1 mIU/ml, testosterone 183 ng/ml, assessment of bone age: 9 years. The response to LHRH stimulation was characteristic for true precocious puberty (LH 15.9 mIU/ml and FSH 1.5 mIU/ml after 30 minutes). The MRI of the brain showed a tumour of the suprasellar region with compression of pituitary stalk. True precocious puberty was diagnosed. Treatment with Diphereline was introduced. At present the boy is 9 years old and has been treated with Diphereline for 16 months. The volume of the testicles has decreased to 7 ml and loss of pubic hair was noted. The MRI does not show any progression in tumour growth. The authors would like to underline the need of close observation of children with von Reclinghausen disease with regard to possibility of uncovering true precocious puberty which is critical for rapid diagnosis and introduction of correct treatment.

  18. Unlawfulness of environmental zones; Rechtswidrigkeit von Umweltzonen

    Energy Technology Data Exchange (ETDEWEB)

    Balbach, Jan

    2016-07-01

    The author examines the new findings on the effectiveness of the environmental zones and, in this context, questions their legitimacy. In addition, the efforts of the European and German legislators are analyzed in order to reduce the particulate matter pollution. In addition, legal protection against the exceeding of limits for particulate matter is critically appreciated. [German] Der Autor beleuchtet die neuen Erkenntnisse zur Wirksamkeit der Umweltzonen und hinterfragt vor diesem Hintergrund deren Rechtmaessigkeit. Darueber hinaus werden die Bemuehungen des europaeischen und deutschen Gesetzgebers analysiert, um die Feinstaubbelastung zu senken. Zudem wird der Rechtsschutz gegen die Ueberschreitung von Feinstaubgrenzwerten kritisch gewuerdigt.

  19. A Metabiography of Alexander von Humboldt

    Directory of Open Access Journals (Sweden)

    Nicolaas A. Rupke

    2006-04-01

    Full Text Available Article in English.The author's recently published monograph on Alexander von Humboldt describes the multiple images of this great cultural icon. The book is a metabiographical study that shows how from the middle of the nineteenth century to the present day Humboldt has served as a nucleus of crystallisation for a variety of successive socio-political ideologies, each producing its own distinctive representation of him. The historiographical implications of this biographical diversity are profound and support current attempts to understand historical scholarship in terms of memory cultures.

  20. Die Biopsie von Knochen- und Weichteiltumoren

    OpenAIRE

    Fuchs, B

    2008-01-01

    Technisch stellt die Biopsie von Knochen- und Weichteiltumoren einen simplen Akt dar, intellektuell aber ist die Planung einer Biopsie höchst anspruchsvoll. Zu häufig werden heutzutage immer noch Biopsien unsachgemäss durchgeführt, so dass die Behandlung - im besten Fall - erschwert wird. Eine unsachgemäss durchgeführte Biopsie führt häufig zu negativen funktionellen Konsequenzen für den Patienten, im schlimmsten Fall kann es die Prognose direkt beeinträchtigen. Aus diesem Grund soll...

  1. Die Altäre von Selinunt

    OpenAIRE

    Voigts, Clemens

    2014-01-01

    In der Dissertation wurden die Altäre von Selinunt, einer griechischen Kolonie auf Sizilien, mit den Methoden der Bauforschung untersucht. Die neun behandelten Brandopferaltäre sind monumentale Quaderbauten, die bis zu 20 m Länge erreichen. Sie stammen aus der Blütezeit Selinunts, dem 6. und 5. Jh. v. Chr. Die Bauten waren bereits im 19. und 20. Jh. freigelegt worden und wurden nun in Bauaufnahmen dokumentiert, zeichnerisch rekonstruiert und zeitlich eingeordnet. Dabei ließ sich an ihnen eine...

  2. Alexander von Humboldt’s footnotes

    OpenAIRE

    Werner, Anja

    2015-01-01

    Alexander von Humboldts Fußnoten waren ihrer Zeit weit voraus, obwohl sie kaum den heutigen akademischen Standards entsprechen. Dieser Artikel untersucht die Fußnoten in Humboldts Essai politique sur l‘île de Cuba (1826). Zwar ist es nicht immer leicht, die manchmal recht geheimnisvollen Verweise zu entschlüsseln, dennoch lohnt sich der Versuch: Humboldts Fußnoten geben nicht nur Auskunft über seine umfassenden Netzwerke des Wissens. Sie verweisen auch auf Auseinandersetzungen verschiedener G...

  3. [Heinz von zur Mühlen. Das Bürgertum Fordert Blut. Ein Bolschewistiches Flugblatt von 1918] / Paul Kaegbein

    Index Scriptorium Estoniae

    Kaegbein, Paul

    2007-01-01

    Arvustus: Heinz von zur Mühlen. Das Bürgertum Fordert Blut. Ein Bolschewistiches Flugblatt von 1918. In : Ostseeprovinzen, baltische Staaten und das Nationale. Münster : LIT, 2005, lk. 403-414. 1918. aastast pärit lendlehest, mille käekirja järgi otsustades on kirjutanud Viktor Kingissepp

  4. Guy von Dardel 1919-2009

    CERN Multimedia

    2009-01-01

    Guy von Dardel, a well-known figure at CERN and in the international particle physics community, passed away on 28 August. Guy von Dardel came to CERN when it was founded in 1954 and was a full-time staff member until 1964, performing several experiments and working on technical developments. These included the first measurement of the neutral pion’s life-time. Called to Lund University in 1964, he became professor there in 1965 and director of the 1.2 GeV electron accelerator. In the late 1960s, he performed an experiment at CERN’s PS that measured the decays of the Λ. Then, in the early 1970s, he involved the Lund group in a series of experiments at the Intersecting Storage Rings (ISR), where he measured the production of various types of particles. In particular, he participated in a series of experiments that observed the production of a high abundance of particles with large transverse momenta. This required an explanation...

  5. Translational Medicine Advances in von Willebrand Disease

    Science.gov (United States)

    Lillicrap, David

    2014-01-01

    Following the recognition of von Willebrand disease (VWD) in 1926 and the cloning of the gene for von Willebrand factor (VWF) in 1985, significant advances have been made in our fundamental knowledge of both the disease and the protein. Some of this new knowledge has also begun to impact the clinical management of VWD. First, the progressive increase in our understanding of the molecular genetic basis of VWD has resulted in rational applications of molecular testing to complement the current range of phenotypic tests for VWD. These molecular genetic strategies are most effectively directed at the prenatal diagnosis of type 3 VWD and confirmatory testing for types 2B and 2N disease. In contrast, the use of molecular testing to clarify the diagnosis of type 1 VWD is of marginal benefit, at best. In terms of VWD therapies, a new recombinant VWF concentrate has recently completed successful clinical trials and is now awaiting more widespread application. There have even been some pre-clinical successes with VWF gene transfer although the clinical rationale for this therapeutic strategy needs careful consideration. Much more remains to be learnt about the biology of VWF and further translational advances for the enhancement of VWD care will inevitably be realized. PMID:23809112

  6. Die Krakauer Kirche von Karmeliten und Karmelitaninnen

    Directory of Open Access Journals (Sweden)

    Józef Szymon Wronski

    2004-12-01

    Full Text Available 1. Die Klosterkirche der unbeschuhten Karmelitinnen Zum Heiligen Josef. Ein glücklicher Auftakt und somit die charakteristische Einführung in das 20. Jh. für den Kirchenbau von Krakau war die Errichtung der Karmeliterinnen St. Josephs-Kirche an der Lobzowska-Straße 40, in der die Architekten (Tadeusz Stryjeński (1849-1943 - Projektant der Kirche und Franciszek Mączyński (1874-1947 - Ausführer des Bauprojektes mit eigenen Verbesserungen die historisch- eklektizistischen Formen d.h. die mittelalterlichen Formen vor allem des sog. Übergangsstils vereinfachten. Die Kirche, die in den Jahren 1903-1905 errichtet wurde, steht inmitten vom Baukomplex des Klosters, dessen Grundriss das Quadrat ist49. Der Kirchenbau ist ein dem Gesamtbau des Klosters eingefügter Längsraum. Hinter dem Chor liegt das Oratorium des Konvents. Das Material Backstein (mit Verwendung von Stein erinnert an die Baukunst eines der besten Architekten jener Zeit, nämlich Teodor Talowskis (1857-1910, der viele Kirchen in Südpolen, aber auch viele Bürgerhäuser nicht nur in Krakau im ausgehenden 19. Jh. baute. Die Architektur der Karmeliterinnen St. Josephs-Kirche ist immer noch im Malerischen begriffen. Aber die Vereinfachung der historischen Formen führt zu ihrer „Beruhigung” und dadurch zur Wuchtigkeit des Ausdrucks. Bemerkenswert ist die in dieser Zeit (in der Anlage noch seltene ausgewogene Proportionierung des Baukörpers. Das methodische Prinzip jener Zeit ist der Kontrast. Im Kontrast zu den gedrungenen und wuchtigen Formen des Baukörpers stehen z.B. die sich verjüngenden obeliskenförmigen und pylonenartigen Türmchen, die nicht nur die Eingangsfassade der Kirche flankieren, sondern auch an den Ecken des Querhauses der Kirche stehen. Die ingravierten weißen Steine an der Fassade in der Zahl von Zehn erinnern an das Gebot des Karmelterinnenordens: Bete täglich den Rosenkranz und sind zugleich ein Vanitativmotiv. 2. Die Klosterkirche der unbeschuhten

  7. Suitability of tracers; Eignung von Tracern

    Energy Technology Data Exchange (ETDEWEB)

    Klotz, D. [GSF - Forschungszentrum fuer Umwelt und Gesundheit GmbH, Neuherberg (Germany). Inst. fuer Hydrologie

    1999-02-01

    Hydrological tracer techniques are a means of making statements on the direction and speed of underground water. One of the simpler tasks is to find out whether there is hydrological communication between two given points. This requires a determination of the direction of flow, which places less exacting demands on the properties of the tracer than does the task of determining the flow velocity of underground water. Tracer methods can serve to infer from flow velocity the distance (flow) velocity, which is defined as the ratio between the distance between two points located in flow direction and the actual time it takes water to flow from one to the other. [Deutsch] Mit Hilfe der hydrologischen Markierungstechniken koennen Aussagen ueber die Richtung und die Geschwindigkeit von Bewegungen des unterirdischen Wassers gemacht werden. Der einfachere Fall liegt vor, wenn festgestellt werden soll, ob zwischen zwei Punkten eine hydrologische Verbindung besteht. Bei dieser Fliessrichtungsbestimmung sind die Forderungen an die Eigenschaften der einzusetzenden Tracer geringer als bei der Bestimmung der Geschwindigkeit des unterirdischen Wassers. Von den Geschwindigkeiten des unterirdischen Wassers ist die Abstands-(Fliess)geschwindigkeit, die definiert ist durch das Verhaeltnis aus dem Abstand und der wahren Fliesszeit zwischen zwei in Bewegungsrichtung gelegenen Punkten, durch Tracermethoden zu bestimmen. (orig.)

  8. Kontextualisierung von Queer Theory Contextualizing Queer Theory

    Directory of Open Access Journals (Sweden)

    Anna Voigt

    2008-03-01

    Full Text Available Christine M. Klapeer legt in diesem Einführungsband dar, aus welchen politischen und theoretischen Kontexten heraus sich ‚queer‘ zu einem Begriff mit besonderem politischem und theoretischem Gehalt entwickelt hat. Wesentlich zielt sie dabei auf eine kritische Kontextualisierung von „queer theory”. Die Autorin geht zunächst auf das Gay Liberation Movement ein, grenzt die Queer Theory vom Poststrukturalismus, von feministischen Theorien und den Lesbian and Gay Studies ab, beleuchtet Eckpunkte queeren Denkens und zeichnet schließlich die Entwicklungen in Österreich sowohl politisch-rechtlich als auch bewegungsgeschichtlich und in der Wissenschaftslandschaft nach.Christine M. Klapeer’s introductory volume demonstrates the manner in which ‘queer’ grew out of various political and theoretical contexts to become a term with special political and theoretical content. She focuses primarily on a critical contextualization of “queer theory.” The author begins by approaching the Gay Liberation Movement and then distinguishes Queer Theory from poststructuralism, from feminist theories, and from Lesbian and Gay Studies. She continues on to illuminate the key aspects of queer thought and concludes by sketching the development in Austria in terms of politics and the law, the history of movements, and within the landscape of knowledge.

  9. Ludwig Leichhardt und Alexander von Humboldt

    Directory of Open Access Journals (Sweden)

    Aliya-Katarina Südfels

    2012-10-01

    Full Text Available Zusammenfassung Im Juli des Jahres 1841 kommt es zu einem Treffen zwischen zwei Männern, das zunächst belanglos erscheint, sich aber Jahre später als wichtige historische Begebenheit herausstellen wird. In seinem Pariser Büro empfängt der 71jährige Naturforscher Alexander von Humboldt den jungen Preußen Ludwig Leichhardt. Der angehende Naturwissenschaftler erhofft sich Zuspruch und Empfehlung des berühmten Alexander von Humboldts. Die Unterredung ist kurz und verläuft für Leichhardt ergebnislos. Es wird das einzige Treffen der beiden Naturwissenschaftler bleiben. Aus heutiger Sicht unverständlich, da Ludwig Leichhardt und Alexander von Humboldt mehr verband, als ihre Leidenschaft für die Naturwissenschaften. Viel zu wenig ist sich bis jetzt den biographischen Analogien und den vergleichbaren geographischen Leistungen der beiden Preußen gewidmet worden. Abstract During July 1841 a meeting between two men takes place, which seems to have been extraneous, but turns out to be a significant historical incident. 71 year old natural scientist Alexander von Humboldt welcomes young Ludwig Leichhardt from Prussia in his office in Paris. The prospective young scientist expects help and references from famous Alexander von Humboldt. The conversation is short and ends from Leichhardt’s point of view without results. Unfortunately this is going to be the only meeting between the two scientists even though the two Prussians have more in common than their passion for the natural sciences. Way too seldomly have biographical analogy and geographical productivity of the two men been compared. Résumé En juillet 1841 une rencontre entre deux hommes a lieu, qui au premier abord semble sans importance, mais qui des années plus tard est considéré comme un événement historique majeur. Dans son bureau parisien, le naturaliste Alexandre de Humboldt, alors âgé de 71 ans, reçoit le jeune Prussien Ludwig Leichhardt. Le jeune scientifique en devenir

  10. Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

    Science.gov (United States)

    Zeesman, Susan; McCready, Elizabeth; Sadikovic, Bekim; Nowaczyk, Małgorzata Jm

    2015-01-01

    Malsegregation of chromosomes during reproduction can result in uniparental disomy when associated with trisomy rescue, monosomy rescue or gamete complementation. Pathogenicity stemming from uniparental disomy in liveborns results from imprinting disorders or autozygosity for autosomal recessive disorders. We report on a girl with Prader-Willi syndrome and Tay-Sachs disease resulting from maternal uniparental disomy of chromosome 15. The child also had an isochromosome Xq. To further characterize the etiology of the aberrant chromosome 15 and the isochromosome Xq, SNP loci from both chromosomes were assessed in the proband and parents, and genome-wide DNA methylation analysis was performed. SNP and DNA methylation analysis confirmed maternal uniparental heterodisomy around the Prader-Willi locus, while the region around the HEXA locus showed maternal uniparental isodisomy. This result is consistent with trisomy rescue of a maternal meiosis l error in a chromosome 15 with two meiotic recombinations. SNP analysis of the X chromosomes is consistent with a maternal origin for the isochromosome. © 2014 Wiley Periodicals, Inc.

  11. Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

    Science.gov (United States)

    Zampieri, Stefania; Montalvo, Annalisa; Blanco, Mariana; Zanin, Irene; Amartino, Hernan; Vlahovicek, Kristian; Szlago, Marina; Schenone, Andrea; Pittis, Gabriela; Bembi, Bruno; Dardis, Andrea

    2012-05-15

    Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the deficient activity of hexosaminidase A due to mutations in the HEXA gene. Up to date there is no information regarding the molecular genetics of TSD in Argentinean patients. In the present study we have studied 17 Argentinean families affected by TSD, including 20 patients with the acute infantile form and 3 with the sub-acute form. Overall, we identified 14 different mutations accounting for 100% of the studied alleles. Eight mutations were novel: 5 were single base changes leading to drastic residue changes or truncated proteins, 2 were small deletions and one was an intronic mutation that may cause a splicing defect. Although the spectrum of mutations was highly heterogeneous, a high frequency of the c.459+5G>A mutation, previously described in different populations was found among the studied cohort. Haplotype analysis suggested that in these families the c.459+5G>A mutation might have arisen by a single mutational event. Copyright © 2012 Elsevier B.V. All rights reserved.

  12. CD31-Expression am Primärtumor und Nachweis hämatogen disseminierter Tumorzellen im Knochenmark von Brustkrebspatientinnen

    OpenAIRE

    Eisenmann, Petra

    2005-01-01

    Der Nachweis von disseminierten Tumorzellen im Knochenmark von Patientinnen mit primärem Mammakarzinom ist ein wichtiger prognostischer Parameter. In der vorliegenden Arbeit wurde der Nachweis von CD31 am Primärtumor Mammakarzinom mit dem Auftreten von Mikrometastasen im Knochenmark korreliert. Ferner wurde die prognostische Bedeutung von disseminierten Tumorzellen im Knochenmark und die prognostische Bedeutung von CD31 evaluiert. Bei 50 Patientinnen des Gesamtkollektivs von 195 (25,6%) wu...

  13. Clarifying the link between von Neumann and thermodynamic entropies

    Science.gov (United States)

    Deville, Alain; Deville, Yannick

    2013-01-01

    The state of a quantum system being described by a density operator ρ, quantum statistical mechanics calls the quantity - kTr( ρln ρ), introduced by von Neumann, its von Neumann or statistical entropy. A 1999 Shenker's paper initiated a debate about its link with the entropy of phenomenological thermodynamics. Referring to Gibbs's and von Neumann's founding texts, we replace von Neumann's 1932 contribution in its historical context, after Gibbs's 1902 treatise and before the creation of the information entropy concept, which places boundaries into the debate. Reexamining von Neumann's reasoning, we stress that the part of his reasoning implied in the debate mainly uses thermodynamics, not quantum mechanics, and identify two implicit postulates. We thoroughly examine Shenker's and ensuing papers, insisting upon the presence of open thermodynamical subsystems, imposing us the use of the chemical potential concept. We briefly mention Landau's approach to the quantum entropy. On the whole, it is shown that von Neumann's viewpoint is right, and why Shenker's claim that von Neumann entropy "is not the quantum-mechanical correlate of thermodynamic entropy" can't be retained.

  14. Die Rolle von RANK-Ligand und Osteoprotegerin bei Osteoporose

    Directory of Open Access Journals (Sweden)

    Hofbauer LC

    2004-01-01

    Full Text Available Receptor activator of nuclear factor (NF- κB ligand (RANKL, sein zellulärer Rezeptor RANK und der Decoy-Rezeptor Osteoprotegerin (OPG stellen ein essentielles Zytokinsystem für die Zellbiologie von Osteoklasten dar. Verschiedene Untersuchungen belegen die Bedeutung von Störungen des OPG/RANKL/RANK-Systems bei der Pathogenese metabolischer Knochenerkrankungen. In dieser Arbeit werden die wichtigsten Störungen des OPG/RANKL/RANK-Systems bei verschiedenen Osteoporoseformen dargestellt. Östrogenrezeptor- (ER- Agonisten wie 17 β-Östradiol, Raloxifen und Genistein stimulieren die osteoblastäre Produktion von OPG durch Aktivierung von ER- α in vitro, während Lymphozyten von Patientinnen mit Östrogenmangel RANKL überexprimieren. Die parenterale Gabe von OPG vermag den mit Östrogenmangel assoziierten Knochenverlust im Tiermodell und in einer kleineren klinischen Studie zu verhindern. Glukokortikoide und Immunsuppressiva steigern gleichzeitig die RANKL-Expression und hemmen die OPG-Produktion in osteoblastären Zellen in vitro. Glukokortikoide sind auch in vivo imstande, die OPG-Serumspiegel deutlich zu reduzieren. Dagegen hemmen biomechanische Reize in vitro die RANKL-Produktion und steigern die OPG-Produktion. Ein Fehlen dieser biomechanischen Reize bei längerer Immobilisierung kann daher den RANKL/OPG-Quotienten steigern, während die tierexperimentelle Immobilisierungs-Osteoporose durch die parenterale Gabe von OPG gemildert werden kann.

  15. Das Geschäftsmodell von Retail Banken im Wandel der Digitalisierung

    OpenAIRE

    Messikommer, Cédric

    2016-01-01

    Der Prozess der Digitalisierung führt in unterschiedlichen Branchen zu tiefgreifenden Veränderungen. Dazu gehört auch der Finanzsektor, dessen Umfeld von erodierenden Margen und Tiefstzinsen geprägt ist. Die Digitalisierung hat weitreichende Auswirkungen auf die Geschäftsmodelle von Banken und speziell von Retail Banken. Deren Basisdienstleistungen werden zunehmend von neuen Mitbewerbern mit modernster Internet-Technologie angeboten. Damit sind wesentliche Teile der Wertschöpfungskette von Re...

  16. Strukturbasierte Entwicklung von Assaysystemen und Charakterisierung von orthosterischen und allosterischen Kinaseinhibitoren

    OpenAIRE

    Klüter, Sabine

    2010-01-01

    Die Proteinkinasen stellen eine wichtige Enzymklasse für die Regulation der Signaltransduktion dar. Sie steuern diese diffizil regulierten, intrazellulären Signalkaskaden durch Übertragung der ?-Phosphatgruppe von ATP auf andere Proteine. Fehlregulationen dieser komplexen Stoffwechselwege können Krankheiten wie Krebs, Diabetes oder Autoimunkrankheiten verursachen. Somit gehören die Kinasen in den letzten Jahren zu den wichtigsten Zielproteinen der Pharmaindustrie. Die klassi...

  17. Der Effekt von Akupunktur in der Prävention von Prüfungsangst

    OpenAIRE

    Krüger, Peter

    2017-01-01

    Prüfungsangst ist ein weit verbreitetes gesellschaftliches Phänomen, das bisher in nur wenigen wissenschaftlichen Ansätzen untersucht wurde. Die Zahl der Studenten, die Gehirn - Doping zur Leistungssteigerung und zur Minimierung von Prüfungsangst nutzen, steigt stetig an. In bisherigen Studien wurde Akupunktur an Herz 7 als vielversprechende Behandlungsalternative dargestellt. Basierend auf diesen Ergebnissen, wurde in dieser Arbeit untersucht, ob eine Einzelpunktakupunktur an Herz 7 die ...

  18. [Albert Reder Ritter von Schellmann (1826-1904)].

    Science.gov (United States)

    Schmidt, G; Holubar, K

    1990-01-01

    Albert Reder von Schellmann (1826-1904) was an important syphilidologist of the Vienna Medical School in the second half of the nineteenth century. He went in for the dualistic concept of the origin of syphilis and ulcer caused by soft chancre. In 1870 - Reder became head of a third dermato-syphilidologic department in the "Josephinum" in Vienna, where military surgeons got their medical education. At the same time the two full professorships of dermatosyphilidology in the Vienna General Hospital were held by Ferdinand von Hebra (1816-1880) and Carl Ludwig Sigmund von Ilanor (1810-1883).

  19. Speziation von Gadolinium-MRT-Kontrastmitteln in Umweltmatrizes

    OpenAIRE

    Lindner, Uwe

    2017-01-01

    Gd-Kontrastmittel werden in der Medizin für die Magnetresonanztomographie (MRT) benötigt, um einen besseren Bildkontrast zu erzielen. Nach der Anwendung gelangen diese Arzneimittel über das Abwasser in die Klärwerke und von dort in die jeweiligen anliegenden Oberflächengewässer. Somit wird es notwendig, den Verbleib der Gd-MRT-Kontrastmittel in der Umwelt zu verfolgen und aufzuklären. In dieser Arbeit werden für die Analyse von Umweltproben Methoden zur Speziesanalytik von Gd-Kontrastmitteln ...

  20. Modernisation of ventilation systems; Modernisierung von Lueftungsanlagen

    Energy Technology Data Exchange (ETDEWEB)

    Richter, W. [Technische Univ. Dresden (Germany). Inst. fuer Thermodynamik und Technische Gebaeudeausruestung

    1997-12-31

    When redeveloping buildings it is common to use window constructions with air-tight rabbets which obviate the inflow of fresh air almost entirely. This leads to the well-known structural-physics and hygienic consequences. As an added effect, the distinctly enhanced thermal insulation results in changes in dynamic heat loss. The paper focuses on the issues of how to safeguard the inflow of fresh air, and the heating capacity of radiators. (MSK) [Deutsch] Da die bei Gebaeudesanierungen eingesetzten fugendichten Fensterkonstruktionen die Nachstroemmoeglichkeiten fuer die Zuluft fast ganz unterbinden, fuehrt das zu den bekannten bauphysikalischen und hygienischen Konsequenzen. Dazu kommen veraenderte dynamische Waermverlustverhaeltnisse aufgrund der deutlich verbesserten Waermedaemmung. Im Folgenden wird schwerpunktmaessig auf die Probleme Zuluftsicherung und Waermeleistung von Heizkoerpern eingegangen.

  1. Of von Willebrand factor and platelets.

    Science.gov (United States)

    Bryckaert, Marijke; Rosa, Jean-Philippe; Denis, Cécile V; Lenting, Peter J

    2015-01-01

    Hemostasis and pathological thrombus formation are dynamic processes that require multiple adhesive receptor-ligand interactions, with blood platelets at the heart of such events. Many studies have contributed to shed light on the importance of von Willebrand factor (VWF) interaction with its platelet receptors, glycoprotein (GP) Ib-IX-V and αIIbβ3 integrin, in promoting primary platelet adhesion and aggregation following vessel injury. This review will recapitulate our current knowledge on the subject from the rheological aspect to the spatio-temporal development of thrombus formation. We will also discuss the signaling events generated by VWF/GPIb-IX-V interaction, leading to platelet activation. Additionally, we will review the growing body of evidence gathered from the recent development of pathological mouse models suggesting that VWF binding to GPIb-IX-V is a promising target in arterial and venous pathological thrombosis. Finally, the pathological aspects of VWF and its impact on platelets will be addressed.

  2. Ex-ante Evaluation von Investitionsalternativen

    Directory of Open Access Journals (Sweden)

    Matthias Müller

    2017-12-01

    Full Text Available Der Beitrag zeigt, wie mit Hilfe der Methode der agentenbasierten Modellierung und Simulation (ABMS ein Beitrag zur ex-ante Policy-Beratung geleistet werden kann. Anhand eines exemplarischen Anwendungsfalls, der VISIBLE Simulationsumgebung („Virtual Simulation Lab for the Analysis of Investments in Learning and Education“, diskutieren wir die Konsequenzen unterschiedlicher Kooperationsförderinstrumente für Wissensdiffusionsprozesse in Netzwerken am Beispiel der Region Heilbronn-Franken. Die Simulationsergebnisse zeigen, dass die strukturelle Konfiguration eines regionalen Innovationssystems eine zentrale Bedeutung für die Gestaltung von Kooperationsfördermaßnahmen hat und dass Interventionen, die darauf abzielen, Wissenstransfer zwischen den Akteuren anzuregen, genau die entgegengesetzten Wirkungen entfalten können.

  3. Budke, Alexandra; Kanwischer, Detlef; Pott, Andreas (Hg.), Internetgeographien : Beobachtungen zum Verhältnis von Internet, Raum und Gesellschaft / [rezensiert von] Helmut Klüter

    OpenAIRE

    Klüter, Helmut

    2009-01-01

    Rezensiertes Werk: Internetgeographien : Beobachtungen zum Verhältnis von Internet, Raum und Gesellschaft / hrsg. von Alexandra Budke ... - Stuttgart : Steiner, 2004. - 192 S. : Ill., graph. Darst., Kt. - (Erdkundliches Wissen ; 136) ISBN 3-515-08506-8

  4. Entwicklung der Reglementierung von 10 MEM-Berufen im Kontext von Bildungsreformen und dem Wandel in der Arbeitswelt: Eine Kurzstudie im Auftrag von LIBS: Eine Kurzstudie im Auftrag von LIBS Industrielle Berufslehren Schweiz, Baden

    OpenAIRE

    Egg, Maria Esther; Renold, Ursula

    2015-01-01

    Im Auftrag der LIBS Industrielle Berufslehren Schweiz, hat die KOF die Entwicklung von 10 MEM1-Berufsbildern seit dem ersten Berufsbildungsgesetz dargestellt und diese eingebettet in eine kurze Zusammenfassung der wichtigsten Etappenschritte des Schweizer Berufsbildungssystems.

  5. Magnus Georg von Paucker (1787-1855) / Eckhard Spring

    Index Scriptorium Estoniae

    Spring, Eckhard

    2013-01-01

    Eestis sündinud ja Tartu Ülikoolis õppinud silmapaistvast baltisaksa teadlasest ja tema lapselapsest Alexandrine Pauckerist. 23. novembril 2012 Jelgavas/Mitaus toimunud Magnus Georg von Pauckerile pühendatud teaduskonverentsist

  6. Warum das Controlling den systematischen Einsatz von Simulationen vorantreiben sollte

    DEFF Research Database (Denmark)

    Spitzner, Jan; Schneider, Melanie L.

    2017-01-01

    Simulationen werden in der Unternehmenssteuerung heutzutage noch nicht systematisch eingesetzt. Dass sich jedoch die existierenden Hemmnisse durchaus überwinden lassen, legen die Antworten von Studienteilnehmern nahe, die Simulationen häufig einsetzen. Dabei kann Controlling eine Vorreiterrolle e...

  7. Pharmakobotanische Untersuchungen von Lavendelsorten auf dem Plattensee- Plateau

    Directory of Open Access Journals (Sweden)

    Tóth, Frida

    2014-09-01

    Full Text Available Auf dem Hof Dörgicsei Levendula Major GmbH wurden 9 Lavendelsorten (6 Sorten von Lavandula angustifolia und 3 Sorten von Lavandula x intermedia untersucht. Neben den morphologischen und Wachstumseigenschaften wurden auch Frisch- und Trockengewichte bewertet. Quantitative und qualitative Untersuchungen von den Blüten- und Ätherischöldrogen wurden auch durchgeführt. Die statistische Analyse zeigte signifikant höhere Erträge bei den Sorten L. angustifolia ’Essence Purple’ und L. x intermedia ’Edelweiss’. Gehalt und Zusammensetzung von ätherischem Öl war eindeutig bei der Sorte L. angustifolia ’Ellagance Purple’ am günstigsten.

  8. Pure Jauch-Piron states on von Neumann algebras

    International Nuclear Information System (INIS)

    Hamhalter, J.

    1993-01-01

    We study Jauch-Piron states and two-valued measures on von Neumann algebra. We prove as the main result that, under some set-theoretical assumption, a pure state of a von Neumann algebra A not containing a central abelian portion is Jauch-Piron if and only if it is σ-additive. Moreover, we show that this result holds for type I factor indenpendently on the set-theoretical axiomatics. As a consequence we obtain a lucid characterization of pure Jauch-Piron states on von Neumann algebras acting on a Hilbert space with real-nonmeasurable dimension (this can be viewed as a generalization of the paper). We also characterize the von Neumann algebras whose logic of projections is Jauch-Piron. Finally, we prove that every two-valued measure on the projection logic of A, where A contains no type I 2 central portion, has to be concentrated at an abelian direct summand of A. (orig.)

  9. Von Krahli Teater toob Eestisse erakordse auhinna / Tiit Tuumalu

    Index Scriptorium Estoniae

    Tuumalu, Tiit, 1971-

    2004-01-01

    Bessie-auhinna puhul, millega New Yorgis pärjati Von Krahli Teatri lavastust "Luikede järv." Mõjukuselt on seda võrreldud Broadway teatriauhinna Tonyga. Lisatud lühiandmed P. Jalaka ja S. Pepeljajevi kohta

  10. Frobenius theory for positive maps of von Neumann algebras

    International Nuclear Information System (INIS)

    Albeverio, S.; Hoegh-Krohn, R.

    1978-01-01

    Frobenius theory about the cyclic structure of eigenvalues of irreducible non negative matrices is extended to the case of positive linear maps of von Neumann algebras. Semigroups of such maps and ergodic properties are also considered. (orig.) [de

  11. Optimized sampling of hydroperoxides and investigations of the water vapour dependence of hydroperoxide formation during ozonolysis of alkenes; Optimierung der Probenahme von Hydroperoxiden und Untersuchungen zur Wasserdampfabhaengigkeit der Bildung von Hydroperoxiden bei der Ozonolyse von Alkenen

    Energy Technology Data Exchange (ETDEWEB)

    Becker, K.H.; Plagens, H.

    1997-06-01

    There are several sampling methods for hydroperoxides none of which is particularly reliable. The authors therefore tested three new methods in order to optimize hydroperoxide sampling and, using the optimized sampling procedure, to investigate the water vapour dependence of hydroperoxide formation during ozonolysis of alkenes. (orig.) [Deutsch] Fuer die Probenahme von Hydroperoxiden existieren verschiedene Verfahren, von denen bisher keines als besonders zuverlaessig angesehen werden konnte. Daher wurden in dieser Arbeit drei Verfahren getestet, um die Probenahme von Hydroperoxiden zu optimieren und mit dem entsprechenden Verfahren die Wasserdampfabhaengigkeit der Bildung von Hydroperoxiden bei der Ozonolyse von Alkenen zu untersuchen. (orig.)

  12. Numerical Analysis Of Buckling Of Von Mises Planar Truss

    Directory of Open Access Journals (Sweden)

    Kalina Martin

    2015-12-01

    Full Text Available A computational algorithm of a discrete model of von Mises planar steel truss is presented. The structure deformation is evaluated by seeking the minimal potential energy. The critical force invented by mathematical solution was compared with solution by computer algorithm. Symmetric and asymmetric effects of initial shape of geometric imperfection of axis of struts are used in model. The shapes of buckling of von Mises planar truss of selected vertical displacement of top joint are shown.

  13. Analytische und Effektor-Studien von N-Acyl-Ethanolaminphosphaten

    OpenAIRE

    Ates, Ebru

    2011-01-01

    Bei N-Acyl-Ethanolaminphosphaten handelt es sich um eine bislang wenig untersuchte Klasse polarer Substanzen, deren Erforschung aufgrund ihrer strukturellen Analogie zu apolaren, physiologisch wirksamen N-Acyl-Ethanolaminen von Interesse ist. Zu bear-beiten waren analytische Fragestellungen, die auch synthetische Aufgaben beinhalteten, wie Methodenentwicklung und Versuche zur Erfassung von N-Acyl-Ethanolamin-phosphaten in ausgewählten Lebensmitteln sowie strukturelle Studien zur „Bioaktivität...

  14. Spurenstoffuntersuchungen zur Bildung und Ausbreitung von Wassermassen im subpolaren Nordatlantik

    OpenAIRE

    Hildebrandt, Hauke

    2001-01-01

    In der vorliegenden Arbeit wurde ein umfangreicher Spurenstoffdatensatz aus dem subpolaren Nordatlantik erstellt und ausgewertet, der Tritium-, Helium- und Neon- sowie O-18-Messungen umfaßt. Das Hauptaugenmerk galt dabei der Bildung und Ausbreitung der tiefen Wassermassen und deren Variabilität auf Zeitskalen von einigen Jahren. Anhand von Tracermittelwerten, die mit Hilfe eines optimierten Interpolationsverfahrens gewonnen wurden, konnte gezeigt werden, daß die konvektive Neubildung de...

  15. Nash y von Neumann: mundos posibles y juegos de lenguaje

    Directory of Open Access Journals (Sweden)

    Salazar , Boris

    2004-06-01

    Full Text Available Este ensayo emplea las nociones de juego de lenguaje y de equivalencia entre juegos para examinar la decisión de John Nash de no jugar el juego coalicional que propuso John von Neumann. El argumento central es que Nash concibió una clase de mundos posibles incompatible con la de von Neumann, y que en el origen de esa divergencia estarían sus distintas nociones de racionalidad.

  16. Von Neumann's impossibility proof: Mathematics in the service of rhetorics

    Science.gov (United States)

    Dieks, Dennis

    2017-11-01

    According to what has become a standard history of quantum mechanics, in 1932 von Neumann persuaded the physics community that hidden variables are impossible as a matter of principle, after which leading proponents of the Copenhagen interpretation put the situation to good use by arguing that the completeness of quantum mechanics was undeniable. This state of affairs lasted, so the story continues, until Bell in 1966 exposed von Neumann's proof as obviously wrong. The realization that von Neumann's proof was fallacious then rehabilitated hidden variables and made serious foundational research possible again. It is often added in recent accounts that von Neumann's error had been spotted almost immediately by Grete Hermann, but that her discovery was of no effect due to the dominant Copenhagen Zeitgeist. We shall attempt to tell a story that is more historically accurate and less ideologically charged. Most importantly, von Neumann never claimed to have shown the impossibility of hidden variables tout court, but argued that hidden-variable theories must possess a structure that deviates fundamentally from that of quantum mechanics. Both Hermann and Bell appear to have missed this point; moreover, both raised unjustified technical objections to the proof. Von Neumann's argument was basically that hidden-variables schemes must violate the ;quantum principle; that physical quantities are to be represented by operators in a Hilbert space. As a consequence, hidden-variables schemes, though possible in principle, necessarily exhibit a certain kind of contextuality. As we shall illustrate, early reactions to Bohm's theory are in agreement with this account. Leading physicists pointed out that Bohm's theory has the strange feature that pre-existing particle properties do not generally reveal themselves in measurements, in accordance with von Neumann's result. They did not conclude that the ;impossible was done; and that von Neumann had been shown wrong.

  17. Räumliche Aspekte von Transformationsproblemen aus systemtheoretischer Perspektive

    OpenAIRE

    Klüter, Helmut

    2000-01-01

    Der mit dem Topos "Transformation von Wirtschafts- und Gesellschaftssystemen" axiomatisch angenommene Unvereinbarkeit sozialistischer und marktwirtschaftlicher Strukturen ist aus raumwissenschaftlicher Sicht nicht nachvollziehbar. Zum einen gibt es in Wirtschaftsgeographie und Infrastrukturtheorie eine ganze Reihe von Gemeinsamkeiten und Berührungspunkten, die man für den konstruktiven Systemumbau nutzen kann. Zum andern benötigt der Umbau selbst eine räumliche Infrastruktur. Und zum dritten ...

  18. Integration von 3D-Kamerasystemen am Gabelstapler

    OpenAIRE

    Kleinert, Steffen; Overmeyer, Ludger

    2013-01-01

    Dieser Beitrag beschreibt die Integration von laufzeitmessenden 3D Kamerasystemen in die Gabelzinkenspitzen eines Flurförderzeugs. Mit Hilfe der integrierten Kameras und deren ausgewerteter Aufnahmen wurde ein Assistenzsystem für die Handhabung von Ladungsträgern realisiert, das dem Fahrer des Flurförderzeugs Verfahrempfehlungen für die Optimierung der Relativposition zwischen Gabelzinken und Ladungsträger bzw. Lagerplatz ausgibt. Neben der Vorstellung der verwendeten Kamera-Hardware und der ...

  19. Die Darstellung von guten und schlechten Beziehungen in Kinderzeichnungen

    OpenAIRE

    Gramel, Sabine

    2005-01-01

    Nach welchen Kriterien sich Bilder, auf denen Kinder eine positive Beziehung darstellen, von Bildern unterscheiden, auf denen negative Beziehungen dargestellt sind, wurde an einer Stichprobe von 45 Kindern zwischen 4;6 und 11;6 Jahren untersucht. Die Kinder fertigten jeweils ein positives und ein negatives Beziehungsbild an. Es zeigte sich, dass die Kinder in beiden Beziehungskategorien zum großen Teil Gleichaltrige darstellten. Sie benannten für ihre Bilder Kriterien, anhand derer man die po...

  20. Zur Dialektik von Soft Skills und fachlicher Kompetenz

    OpenAIRE

    Jendrowiak, Hans-Werner

    2010-01-01

    [Der Autor stellt folgende Thesen zur Dialektik von Soft Skills und fachlicher Bildung auf:] 1. Soft Skills sind normale Bildungskategorien und Teil einer Allgemeinen Bildung. […] 2. Soft Skills sind als personalgebundene Kriterien auch immer schon Gegenstand bildungstheoretischer Debatten. […] 3. Soft Skills ist eine trendorientierte Bezeichnung für Bildung. […] 4. Soft Skills sind Ausdruck von Vorstellungen, Ideen und Theorien (Schulkultur, Unternehmenskultur, Unternehmensphilosophie). 5. S...

  1. 2200-IJBCS-Article-Julius Ghogomu

    African Journals Online (AJOL)

    hp

    1Laboratory of Noxious Chemistry and Environmental Engineering, Department of Chemistry, ..... concentrations up to the full coverage of the surface. The Langmuir equation can be rewritten in linear ..... ATR platinum Diamond 1 Refl. 27/09/ ...

  2. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.

    Science.gov (United States)

    Vallance, Hilary; Morris, Tara J; Coulter-Mackie, Marion; Lim-Steele, Joyce; Kaback, Michael

    2006-02-01

    A DNA-proven Tay-Sachs disease (TSD) carrier and his brother were found to have serum percent Hexosaminidase A (%HexA) enzymatic activities in the non-carrier range, while the leukocyte %HexA profiles clearly identified them as TSD heterozygotes. Both their serum HexA and HexB enzymatic activities were below reference range, suggesting inheritance of mutations in both the HEXA (alpha-subunit) and HEXB (beta-subunit) genes. DNA sequencing revealed that both individuals, carried the common HEXA 1277_1278insTATC mutation, and two common HEXB polymorphisms: [619A>G (+) delTG]. To determine if these HEXB polymorphisms reduce HexA and HexB enzymatic activities, 69 DNA samples from subjects previously screened enzymatically in both serum and leukocytes for TSD carrier status were selected for either high, mid-range or low serum Total Hex (defined as the sum of HexA and HexB) activities and were tested for the HEXB mutations. Further, three additional TSD carriers ascertained by the atypical pattern of normal serum %HexA but carrier leukocyte %HexA, were found to have the [delTG (+) 619A>G] genotype. In addition, the frequency of the [delTG (+) 619A>G] genotype was significantly higher (P G] haplotype in the Ashkenazi Jewish population (approximately 10%), up to 10% of TSD carriers may have normal serum %HexA values with low total Hex. Accordingly, serum %HexA should not be the sole criterion used for carrier status determination. Where total Hex activity is reduced, further testing with leukocyte Hex profiles is indicated.

  3. Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.

    Science.gov (United States)

    Schneider, Adele; Nakagawa, Sachiko; Keep, Rosanne; Dorsainville, Darnelle; Charrow, Joel; Aleck, Kirk; Hoffman, Jodi; Minkoff, Sherman; Finegold, David; Sun, Wei; Spencer, Andrew; Lebow, Johannah; Zhan, Jie; Apfelroth, Stephen; Schreiber-Agus, Nicole; Gross, Susan

    2009-11-01

    Tay-Sachs disease (TSD) carrier screening, initiated in the 1970s, has reduced the birth-rate of Ashkenazi Jews with TSD worldwide by 90%. Recently, several nationwide programs have been established that provide carrier screening for the updated panel of Jewish genetic diseases on college campuses and in Jewish community settings. The goals of this study were to determine the performance characteristics of clinical TSD testing in college- and community-based screening programs and to determine if molecular testing alone is adequate in those settings. Clinical data for TSD testing were retrospectively anonymized and subsequently analyzed for 1,036 individuals who participated in these programs. The performance characteristics of the serum and the platelet Hexosaminidase assays were compared, and also correlated with the results of targeted DNA analysis. The serum assay identified 29 carriers and the platelet assay identified 35 carriers for carrier rates of 1/36 and 1/29, respectively. One hundred sixty-nine samples (16.3%) were inconclusive by serum assay in marked contrast to four inconclusive samples (0.4%) by the platelet assay. Molecular analysis alone would have missed four of the 35 carriers detected by the platelet assay, yielding a false negative rate of 11.4% with a sensitivity of 88.6%. Based on the results of this study, platelet assay was superior to serum with a minimal inconclusive rate. Due to changing demographics of the Ashkenazi Jewish population, molecular testing alone in the setting of broad-based population screening programs is not sufficient, and biochemical analysis should be the assay of choice. Copyright 2009 Wiley-Liss, Inc.

  4. Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

    Science.gov (United States)

    Frisch, Amos; Colombo, Roberto; Michaelovsky, Elena; Karpati, Mazal; Goldman, Boleslaw; Peleg, Leah

    2004-03-01

    The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplotype (D15S981:175-D15S131:240-D15S1050:284-D15S197:144-D15S188:418) was identified in 1278insTATC chromosomes from 55 unrelated AJ individuals (15 homozygotes and 40 heterozygotes for the TSD mutation), suggesting the occurrence of a common founder. When two methods were used for analysis of linkage disequilibrium (LD) between flanking polymorphic markers and the disease locus and for the study of the decay of LD over time, the estimated age of the insertion was found to be 40+/-12 generations (95% confidence interval: 30-50 generations), so that the most recent common ancestor of the mutation-bearing chromosomes would date to the 8th-9th century. This corresponds with the demographic expansion of AJs in central Europe, following the founding of the Ashkenaz settlement in the early Middle Ages. The results are consistent with the geographic distribution of the main TSD mutation, 1278insTATC being more common in central Europe, and with the coalescent times of mutations causing two other LSDs, Gaucher disease and mucolipidosis type IV. Evidence for the absence of a determinant positive selection (heterozygote advantage) over the mutation is provided by a comparison between the estimated age of 1278insTATC and the probability of the current AJ frequency of the mutant allele as a function of its age, calculated by use of a branching-process model. Therefore, the founder effect in a rapidly expanding population arising from a bottleneck provides a robust parsimonious hypothesis explaining the spread of 1278insTATC-linked TSD in AJ individuals.

  5. Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.

    Science.gov (United States)

    Levit, A; Nutman, D; Osher, E; Kamhi, E; Navon, R

    2010-06-01

    We have identified three mutations in the beta-hexoseaminidase A (HEXA) gene in a juvenile Tay-Sachs disease (TSD) patient, which exhibited a reduced level of HEXA mRNA. Two mutations are novel, c.814G>A (p.Gly272Arg) and c.1305C>T (p.=), located in exon 8 and in exon 11, respectively. The third mutation, c.1195A>G (p.Asn399Asp) in exon 11, has been previously characterized as a common polymorphism in African-Americans. Hex A activity measured in TSD Glial cells, transfected with HEXA cDNA constructs bearing these mutations, was unaltered from the activity level measured in normal HEXA cDNA. Analysis of RT-PCR products revealed three aberrant transcripts in the patient, one where exon 8 was absent, one where exon 11 was absent and a third lacking both exons 10 and 11. All three novel transcripts contain frameshifts resulting in premature termination codons (PTCs). Transfection of mini-gene constructs carrying the c.814G>A and c.1305C>T mutations proved that the two mutations result in exon skipping. mRNAs that harbor a PTC are detected and degraded by the nonsense-mediated mRNA decay (NMD) pathway to prevent synthesis of abnormal proteins. However, although NMD is functional in the patient's fibroblasts, aberrant transcripts are still present. We suggest that the level of correctly spliced transcripts as well as the efficiency in which NMD degrade the PTC-containing transcripts, apparently plays an important role in the phenotype severity of the unique patient and thus should be considered as a potential target for drug therapy.

  6. Neuraminidase-1 contributes significantly to the degradation of neuronal B-series gangliosides but not to the bypass of the catabolic block in Tay–Sachs mouse models

    Directory of Open Access Journals (Sweden)

    Z.K. Timur

    2015-09-01

    Full Text Available Tay–Sachs disease is a severe lysosomal storage disorder caused by mutations in the HEXA gene coding for α subunit of lysosomal β-Hexosaminidase A enzyme, which converts GM2 to GM3 ganglioside. HexA−/− mice, depleted of the β-Hexosaminidase A iso-enzyme, remain asymptomatic up to 1 year of age because of a metabolic bypass by neuraminidase(s. These enzymes remove a sialic acid residue converting GM2 to GA2, which is further degraded by the still intact β-Hexosaminidase B iso-enzyme into lactosylceramide. A previously identified ganglioside metabolizing neuraminidase, Neu4, is abundantly expressed in the mouse brain and has activity against gangliosides like GM2 in vitro. Neu4−/− mice showed increased GD1a and decreased GM1 ganglioside in the brain suggesting the importance of the Neu4 in ganglioside catabolism. Mice with targeted disruption of both HexA and Neu4 genes showed accumulating GM2 ganglioside and epileptic seizures with 40% penetrance, indicating that the neuraminidase Neu4 is a modulatory gene, but may not be the only neuraminidase contributing to the metabolic bypass in HexA−/− mice. Therefore, we elucidated the biological role of neuraminidase-1 in ganglioside degradation in mouse. Analysis of HexA−/−Neu1−/− and HexA−/−Neu4−/−Neu1−/− mice models showed significant contribution of neuraminidase-1 on B-series ganglioside degradation in the brain. Therefore, we speculate that other neuraminidase/neuraminidases such as Neu2 and/or Neu3 might be also involved in the ganglioside degradation pathway in HexA−/− mice.

  7. A double mutation in exon 6 of the [beta]-hexosaminidase [alpha] subunit in a patient with the B1 variant of Tay-Sachs disease

    Energy Technology Data Exchange (ETDEWEB)

    Ainsworth, P.J. (Univ. of Western Ontario, Ontario (Canada) Child Health Research Institute, London, Ontario (Canada)); Coulter-Mackie, M.B. (Univ. of Western Ontario, Ontario (Canada) Child Health Research Institute, London, Ontario (Canada) Children' s Psychiatric Research Institute, London, Ontario (Canada))

    1992-10-01

    The B1 variant form of Tay-Sachs disease is enzymologically unique in that the causative mutation(s) appear to affect the active site in the [alpha] subunit of [beta]-hexosaminidase A without altering its ability to associate with the [beta] subunit. Most previously reported B1 variant mutations were found in exon 5 within codon 178. The coding sequence of the [alpha] subunit gene of a patient with the B1 variant form was examined with a combination of reverse transcription of mRNA to cDNA, PCR, and dideoxy sequencing. A double mutation in exon 6 has been identified: a G[sub 574][yields]C transversion causing a val[sub 192][yields]leu change and a G[sub 598][yields] A transition resulting in a val[sub 200][yields]met alteration. The amplified cDNAs were otherwise normal throughout their sequence. The 574 and 598 alterations have been confirmed by amplification directly from genomic DNA from the patient and her mother. Transient-expression studies of the two exon 6 mutations (singly or together) in COS-1 cells show that the G[sub 574][yields]C change is sufficient to cause the loss of enzyme activity. The biochemical phenotype of the 574 alteration in transfection studies is consistent with that expected for a B1 variant mutation. As such, this mutation differs from previously reported B1 variant mutations, all of which occur in exon 5. 31 refs., 2 figs., 2 tabs.

  8. Active packaging for fresh-cut broccoli using 1-methylcyclopropene in biodegradable sachet/ Embalagem ativa para brócolis minimamente processado utilizando 1-metilciclopropeno em sachê biodegradável

    Directory of Open Access Journals (Sweden)

    Marta de Toledo Benassi

    2006-07-01

    Full Text Available Fresh-cut broccoli florets were packed in polypropylene pots containing a sachet with 1- methylcyclopropene (1-MCP and sealed with biodegradable starch-based film. Broccoli was stored for 8 days at 12oC and after this time the color and the texture of the product were similar of the fresh broccoli, with no off-flavor development or decay. Active packaging with 1-MCP in a sachet was efficient to extent shelf life of broccoli florets retarding yellowing and vitamin C losses. It is an alternative of 1-MCP treatment for fresh-cut products and besides, the sachet can absorbs condensed water reducing spoilage and off-odor development.Brócolis minimamente processados foram embalados em bandejas de polipropileno com sachê contendo 1-metilciclopropeno (1-MCP e selado com filme biodegradável de amido. Os brócolis foram armazenados por 8 dias a 12oC e após este tempo a cor e a textura mantiveram-se similares às do produto fresco, sem desenvolvimento de odor não característico ou podridão. A embalagem ativa contendo 1-MCP na forma de sachê foi eficiente no aumento da vida de prateleira de brócolis, retardando o amarelecimento e a perda de vitamina C. Esta é uma alternativa para o tratamento com 1-MCP para produtos minimamente processados e além disso, o sachê pode absorver a água condensada, reduzindo a deterioração e o desenvolvimento de odor não característico.

  9. The Val{sup 192}Leu mutation in the {alpha}-subunit of {beta}-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease

    Energy Technology Data Exchange (ETDEWEB)

    Hou, Y.; Vavougios, G.; Hinek, A. [Univ. of Toronto (Canada)] [and others

    1996-07-01

    Substitution mutations adversely affecting the {alpha}-subunit of {beta}-hexosaminidase A ({alpha}{beta}) (EC 3.2.1.52) result in Tay-Sachs disease. The majority affect the initial folding of the pro-{alpha} chain in the endoplasmic reticulum, resulting in its retention and degradation. A much less common occurrence is a mutation that specifically affects an {open_quotes}active-site{close_quotes} residue necessary for substrate binding and/or catalysis. In this case, hexosaminidase A is present in the lysosome, but it lacks all {alpha}-specific activity. This biochemical phenotype is referred to as the {open_quotes}B1-variant form{close_quotes} of Tay-Sachs disease. Kinetic analysis of suspected B1-variant mutations is complex because hexosaminidase A is heterodimeric and both subunits possess similar active sites. In this report, we examine a previously identified B1-variant mutation, {alpha}-Val{sup 192}Leu. Chinese hamster ovary cells were permanently cotransfected with an {alpha}-cDNA-construct encoding the substitution and a mutant {beta}-cDNA ({beta}-Arg{sup 211}Lys), encoding a {beta}-subunit that is inactive but normal in all other respects. We were surprised to find that the Val{sup 192}Leu substitution produced a pro-{alpha} chain that did not form {alpha}-{beta} dimers and was not transported to the lysosome. Finally, we reexamined the hexosaminidase activity and protein levels in the fibroblasts from the original patient. These data were also not consistent with the biochemical phenotype of the B1 variant of Tay-Sachs disease previously reported to be present. Thus, we conclude that the Val{sup 192}Leu substitution does not specifically affect the {alpha}-active site. 23 refs., 4 figs., 2 tabs.

  10. Politische Bildung im Kontext von Regierung, Unterricht und Zucht

    Directory of Open Access Journals (Sweden)

    Thomas Rucker

    2014-02-01

    Full Text Available Johann Friedrich Herbart (1776-1841 gilt als der Begründer der wissenschaftlichen Pädagogik. In diesem Beitrag wird zu zeigen versucht, dass Herbart die Unterstützung politischer Bildung als eine Aufgabe von Regierung, Unterricht und Zucht bestimmt und in seinem Werk wichtige „Bausteine“ für eine Theorie der politischen Bildung unter den Bedingungen von Erziehung vorlegt hat. Nach Herbart ist das politische Selbst- und Weltverhältnis auf Sachverhalte bezogen, die nicht nur die Lebensführung einzelner Menschen, sondern die Lebensführung einer Mehrzahl von Menschen betreffen. Nicht das Zusammenleben von Menschen generell ist jedoch Orientierungsgesichtspunkt des politischen Selbst- und Weltverhältnisses, sondern nur das problematisch gewordene Zusammenleben. Politik ergibt sich nach Herbart aus einem Konflikt hinsichtlich der Frage, wie das Zusammenleben von Menschen geregelt sein sollte. Während die Regierung lediglich mittelbar einen Beitrag zur politischen Bildung leistet, indem sie die Voraussetzungen für Unterricht und Zucht bereitstellt, fungieren die beiden zuletzt genannten Formen von Erziehung als die eigentlichen Medien, in denen die politische Bildung im Sinne Herbarts ihren Ort hat.

  11. Prophylaxis escalation in severe von Willebrand disease: A prospective study from the von Willebrand Disease Prophylaxis Network

    NARCIS (Netherlands)

    T.C. Abshire (Thomas Calvin); J. Cox-Gill; C.L. Kempton; F.W.G. Leebeek (Frank); M. Carcao (M.); P. Kouides (P.); S. Donfield (S.); E. Berntorp

    2015-01-01

    textabstractBackground: Treatment of mucosal bleeding (epistaxis, gastrointestinal bleeding, and menorrhagia) and joint bleeding remains problematic in clinically severe von Willebrand disease (VWD). Patients are often unresponsive to treatment (e.g. desmopressin or antifibrinolytic therapy) and may

  12. Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

    Science.gov (United States)

    Haghighi, Alireza; Masri, Amira; Kornreich, Ruth; Desnick, Robert J

    2011-12-01

    Tay-Sachs disease (TSD), a pan-ethnic, autosomal recessive, neurodegenerative, lysosomal disease, results from deficient β-hexosaminidase A activity due to β-hexosaminidase α-subunit (HEXA) mutations. Prenatal/premarital carrier screening programs in the Ashkenazi Jewish community have markedly reduced disease occurrence. We report the first Jordanian Arab TSD patient diagnosed by deficient β-hexosaminidase A activity. HEXA mutation analysis revealed homozygosity for a nonsense mutation, c.78G>A (p.W26X). Previously reported in Arab patients, this mutation is a candidate for TSD screening in Arab populations. Copyright © 2011 Elsevier Inc. All rights reserved.

  13. Entwicklung von Extraktions- und Absorptionssystemen auf Basis ionischer Flüssigkeiten für die Entschwefelung von Kohlenwasserstoffen

    OpenAIRE

    Kuhlmann, Esther

    2008-01-01

    Da die Anforderungen an den Schwefelgehalt der fossilen Brennstoffe - nicht zuletzt durch gesetzliche Richtlinien bezüglich der Schadstoffemissionen - im Laufe der Zeit ständig gestiegen sind, sind effektive Entschwefelungsverfahren für fossile Brennstoffe von hohem Interesse. Die derzeitige Entschwefelungstechnologie basiert auf dem HDS-Verfahren, alternative Verfahren sind aber wünschenswert, insbesondere wenn Anwendungen einen Schwefelgehalt von weit unter 10 ppm erforderlich machen. Daher...

  14. Electronic Resource Management System. Vernetzung von Lizenzinformationen

    Directory of Open Access Journals (Sweden)

    Michaela Selbach

    2014-12-01

    Full Text Available In den letzten zehn Jahren spielen elektronische Ressourcen im Bereich der Erwerbung eine zunehmend wichtige Rolle: Eindeutig lässt sich hier ein Wandel in den Bibliotheken (fort vom reinen Printbestand zu immer größeren E-Only-Beständen feststellen. Die stetig wachsende Menge an E-Ressourcen und deren Heterogenität stellt Bibliotheken vor die Herausforderung, die E-Ressourcen effizient zu verwalten. Nicht nur Bibliotheken, sondern auch verhandlungsführende Institutionen von Konsortial- und Allianzlizenzen benötigen ein geeignetes Instrument zur Verwaltung von Lizenzinformationen, welches den komplexen Anforderungen moderner E-Ressourcen gerecht wird. Die Deutsche Forschungsgemeinschaft (DFG unterstützt ein Projekt des Hochschulbibliothekszentrums des Landes Nordrhein-Westfalen (hbz, der Universitätsbibliothek Freiburg, der Verbundzentrale des Gemeinsamen Bibliotheksverbundes (GBV und der Universitätsbibliothek Frankfurt, in dem ein bundesweit verfügbares Electronic Ressource Managementsystem (ERMS aufgebaut werden soll. Ein solches ERMS soll auf Basis einer zentralen Knowledge Base eine einheitliche Nutzung von Daten zur Lizenzverwaltung elektronischer Ressourcen auf lokaler, regionaler und nationaler Ebene ermöglichen. Statistische Auswertungen, Rechteverwaltung für alle angeschlossenen Bibliotheken, kooperative Datenpflege sowie ein über standardisierte Schnittstellen geführter Datenaustausch stehen bei der Erarbeitung der Anforderungen ebenso im Fokus wie die Entwicklung eines Daten- und Funktionsmodells. In the last few years the importance of electronic resources in library acquisitions has increased significantly. There has been a shift from mere print holdings to both e- and print combinations and even e-only subscriptions. This shift poses a double challenge for libraries: On the one hand they have to provide their e-resource collections to library users in an appealing way, on the other hand they have to manage these

  15. J-GLOBAL MeSH Dictionary: von Willebrand病 [MeCab user dictionary for science technology term[Archive

    Lifescience Database Archive (English)

    Full Text Available MeCab user dictionary for science technology term von Willebrand病 名詞 一般 * * * * von Willebrand...病 ... MeSH D014842 200906053707829497 C LS51 UNKNOWN_2 von Willebrand 病

  16. Von Roll RCP method - first experiences; Von Roll RCP - Verfahren. Erste Erfahrungen

    Energy Technology Data Exchange (ETDEWEB)

    Capitaine, P.; Engweiler, J. [Roll Umwelttechnik AG, Zuerich (Switzerland)

    1998-09-01

    The RCP method was designed as a residue-optimised alternative to the thermally optimised grate firing of residual wastes. Its technical realisation and development to market maturity took no more than 5 years. In the first process stage the waste is converted to high-carbon pyrolysis charcoal and high-rank gas in the absence of oxygen. In the second stage these substances are oxidised by addition of oxygen. The resulting temperature causes the non-combustible constituents of the slag to melt. In a third, optional, stage this molten slag can be liberated of (heavy) metals to such an extent that it can subsequently be used directly as additive for grinding. Further exhaust gas treatment is facilitated by the use of a circulatory fluidised-bed secondary combustion chamber. Despite the reduced flue gas volume and resultant higher pollutant concentrations in the crude gas, overall emissions are lower than in conventional plants. [Deutsch] Das reststoffoptimierte RCP Verfahren ist als Alternative zur thermisch optimierten Rostverbrennung von Restabfaellen konzipiert. In nur fuenf Jahren wurde das Verfahren technisch umgesetzt und zur Marktreife entwickelt. In einer ersten Stufe des Verfahrens wird der Abfall unter Luftabschluss in einen kohlenstoffreichen Pyrolysekoks und eine heizwertreiches Gas umgesetzt. Im zweiten Schritt werden diese Stoffe unter Zugabe von Sauerstoff oxidiert. Dabei treten Temperaturen auf, bei denen die nichtbrennbaren Bestandteile der Schlacke schmelzen. Optional wird diese Schmelzschlacke in einem dritten Schritt derart von (Schwer-) Metallen befreit, dass sie anschliessend direkt als Zement-Zumahlstoff eingesetzt werden kann. Die Nutzung der zirkulierenden Wirbelschicht - Nachbrennkammer zur Abgasbehandlung vereinfacht die weitergehende Abgasbehandlung. Trotz verringertem Rauchgasvolumen und damit hoeheren Schadstoffkonzentrationen im Rohgas werden die Gesamtemissionen gegenueber konventionellen Anlagen verringert. (orig./SR)

  17. Einfluss von Informationskompetenz-Veranstaltungen auf die Qualität von Masterarbeiten

    Directory of Open Access Journals (Sweden)

    Gary Seitz

    2016-02-01

    Full Text Available Am Geographischen Institut der Universität Zürich haben die Studierenden, welche als erster Jahrgang die IK-Veranstaltung als Pflichtmodul absolvierten, ihre Masterarbeit abgeschlossen. Mit einer quantitativen Auswertung wird untersucht, ob sich die Qualität der Quellen in den Masterarbeiten verbessert hat. Dazu werden die Literaturverzeichnisse einer bibliometrischen Analyse unterzogen. Anschliessend werden die erhaltenen Werte mit denjenigen verglichen, welche von Arbeiten ohne IK-Schulung erhoben wurden. Diese Methodik könnte ein Werkzeug darstellen, um Informationskompetenz-Veranstaltungen bezüglich ihrer Relevanz für wissenschaftliches Arbeiten evaluieren zu können.

  18. "Die Toten reiten schnelle." Literarische Zitate in Briefen von und an Alexander von Humboldt

    Directory of Open Access Journals (Sweden)

    Ingo Schwarz

    2007-04-01

    Full Text Available Article in GermanAbstract in English and GermanAlexander von Humboldt and his correspondents liked to enrich or embellish their letters with quotations from classic works of ancient literature as well as from recent poems, plays, or novels. This paper tries to show that references to literature were very often used in order to express thoughts and feelings more clearly not so much for impressing the recipients of letters with high education. In educated circles a good knowledge of ancient and modern works of literature was a standard requirement, which often allowed the letter writers to use quotations in a playful manner.

  19. Richard von Volkmann: surgeon and Renaissance man.

    Science.gov (United States)

    Willy, Christian; Schneider, Peter; Engelhardt, Michael; Hargens, Alan R; Mubarak, Scott J

    2008-02-01

    Richard von Volkmann (1830-1889), one of the most important surgeons of the 19(th) century, is regarded as one of the fathers of orthopaedic surgery. He was a contemporary of Langenbeck, Esmarch, Lister, Billroth, Kocher, and Trendelenburg. He was head of the Department of Surgery at the University of Halle, Germany (1867-1889). His popularity attracted doctors and patients from all over the world. He was the lead physician for the German military during two wars. From this experience, he compared the mortality of civilian and war injuries and investigated the general poor hygienic conditions in civilian hospitals. This led him to introduce the "antiseptic technique" to Germany that was developed by Lister. His powers of observation and creativity led him to findings and achievements that to this day bear his name: Volkmann's contracture and the Hueter-Volkmann law. Additionally, he was a gifted writer; he published not only scientific literature but also books of children's fairy tales and poems under the pen name of Richard Leander, assuring him a permanent place in the world of literature as well as orthopaedics.

  20. Geschichte der Natur bei Alexander von Humboldt

    Directory of Open Access Journals (Sweden)

    Christian Helmreich

    2009-05-01

    Full Text Available Article in German, Abstracts in English, German and French.This article analyses the importance of an historical view of nature in the works of Alexander von Humboldt. In several of his first writings, Humboldt seems to outline the importance of what one may call history of nature. But even before his famous American travel, his position changed and he became reluctant to accept the seriousness of historical enquiry in the area of natural sciences: if we want to reconstruct the past state of nature, we cannot rely on empirical proofs; and history of nature is therefore necessarily based on uncertain hypotheses. Humboldt kept his sceptical attitude in the first decades of the 19th century, despite the positive results of the palaeontological researches of his scientific colleagues. However, he gradually convinced himself of the scientific interest of historical investigations in the natural sciences. The Cosmos paradoxally displays two apparently conflicting points of view: in his methodological remarks, Humboldt maintains that precise accounts of the past state of nature are out of reach of human knowledge, yet elsewhere in the same Cosmos he gives broad and rather vivid descriptions of the eventful history of nature.

  1. Hypercontractivity in group Von Neumann algebras

    CERN Document Server

    Junge, Marius; Parcet, Javier

    2017-01-01

    In this paper, the authors provide a combinatorial/numerical method to establish new hypercontractivity estimates in group von Neumann algebras. They illustrate their method with free groups, triangular groups and finite cyclic groups, for which they obtain optimal time hypercontractive L_2 \\to L_q inequalities with respect to the Markov process given by the word length and with q an even integer. Interpolation and differentiation also yield general L_p \\to L_q hypercontrativity for 1 < p \\le q < \\infty via logarithmic Sobolev inequalities. The authors' method admits further applications to other discrete groups without small loops as far as the numerical part-which varies from one group to another-is implemented and tested on a computer. The authors also develop another combinatorial method which does not rely on computational estimates and provides (non-optimal) L_p \\to L_q hypercontractive inequalities for a larger class of groups/lengths, including any finitely generated group equipped with a condit...

  2. The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

    Science.gov (United States)

    Georgiou, Theodoros; Christopoulos, George; Anastasiadou, Violetta; Hadjiloizou, Stavros; Cregeen, David; Jackson, Marie; Mavrikiou, Gavriella; Kleanthous, Marina; Drousiotou, Anthi

    2014-12-01

    Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside. We describe the first patient with Tay-Sachs disease in the Cypriot population, a juvenile case which presented with developmental regression at the age of five. The diagnosis was confirmed by measurement of HEXA activity in plasma, peripheral leucocytes and fibroblasts. Sequencing the HEXA gene resulted in the identification of two previously described mutations: the nonsense mutation c.78G>A (p.Trp26X) and the silent mutation c.1305C>T (p.=). The silent mutation was reported once before in a juvenile TSD patient of West Indian origin with an unusually mild phenotype. The presence of this mutation in another juvenile TSD patient provides further evidence that it is a disease-causing mutation. Successful preimplantation genetic diagnosis (PGD) and prenatal follow-up were provided to the couple.

  3. Acquired von Willebrand syndrome: A rare disorder of heterogeneous etiology

    Directory of Open Access Journals (Sweden)

    P Kasatkar

    2013-01-01

    Full Text Available Context: Acquired von Willebrand syndrome (AVWS is a rare bleeding disorder that mimics the inherited form of von Willebrand disease (VWD in terms of laboratory findings and clinical presentation. Aims: To study the etiology of acquired VWD. Settings and Design: The patients referred from various hospitals in and out of Mumbai were included in the study. Materials and Methods: Six patients with AVWS diagnosed at this center over the last 10 years were analyzed against 171 patients with inherited VWD. The differential diagnosis of AVWS was made based on reduced levels of von Willebrand antigen and von Willebrand ristocetin cofactor, decrease in ristocetin induced platelet aggregation, absence of correction in mixing studies with no prior history of bleeding problems and a negative family history for bleeding disorders. Results: In three patients, the disease was associated with systematic lupus erythematosus, out of which one was also associated with Kikuchi lymphadenitis and second with autoimmune hemolytic anemia. Fourth case was associated with hypothyroidism and fifth was a case of dermatitis and vitiligo. The last patient was a case of hemophilia A with Burkitts lymphoma, who developed autoantibodies to von Willebrand factor. Except two patients, all other patients responded to immune suppressive therapy with corticosteroids, while the patient with hypothyroidism responded to oral thyroxine. Conclusion: AVWS is a rare condition and may often be missed or diagnosed as inherited disease associated with heterogeneous disease conditions.

  4. Ecobalance of natural gas vehicles; Oekobilanz von Erdgasfahrzeugen

    Energy Technology Data Exchange (ETDEWEB)

    Nigge, K.M. [Simon, Kucher und Partners Strategy und Marketing Consultants GmbH, Bonn (Germany)

    2000-07-01

    The impacts on human health and the natural environment of using natural gas, Diesel and petrol as fuels for city buses and passenger cars are compared in a Life Cycle Assessment. In addition to the burning of the fuels in the engines, this assessment also comprises the upstream processes of the fuel supply chain. Despite the increased energy demand of the vehicles, natural gas is associated with the lowest impacts overall for both city buses and passenger cars. The health impacts that can be avoided through the use of natural gas instead of Diesel or petrol thereby differ only weakly between the use of the vehicles in cities of various sizes within Germany. From the perspective of environmental protection, the market introduction of natural gas vehicles therefore does not need remain limited to large cities within agglomerated regions. (orig.) [German] Die Auswirkungen der Verwendung von Erdgas, Diesel und Benzin als Kraftstoffe fuer Stadtbusse und Pkw auf die menschliche Gesundheit und die natuerliche Umwelt werden in einer Oekobilanz verglichen. Diese umfasst neben der motorischen Verbrennung der Kraftstoffe auch die vorgelagerten Prozessketten der Kraftstoffbereitstellung. Sowohl fuer Stadtbusse als auch fuer Pkw schneidet Erdgas trotz eines energetischen Mehrbedarfes der Fahrzeuge insgesamt am guenstigsten ab. Die durch den Einsatz von Erdgas anstelle von Diesel oder Benzin vermeidbaren Gesundheitsschaeden unterscheiden sich dabei zwischen einem Einsatz der Fahrzeuge in Staedten verschiedener Groesse innerhalb von Deutschland nur wenig. Die Markteinfuehrung von Erdgasfahrzeugen muss also aus Sicht des Umweltschutzes nicht auf grosse Staedte in Ballungsgebieten beschraenkt bleiben. (orig.)

  5. Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.

    Science.gov (United States)

    Karumuthil-Melethil, Subha; Nagabhushan Kalburgi, Sahana; Thompson, Patrick; Tropak, Michael; Kaytor, Michael D; Keimel, John G; Mark, Brian L; Mahuran, Don; Walia, Jagdeep S; Gray, Steven J

    2016-07-01

    GM2 gangliosidosis is a family of three genetic neurodegenerative disorders caused by the accumulation of GM2 ganglioside (GM2) in neuronal tissue. Two of these are due to the deficiency of the heterodimeric (α-β), "A" isoenzyme of lysosomal β-hexosaminidase (HexA). Mutations in the α-subunit (encoded by HEXA) lead to Tay-Sachs disease (TSD), whereas mutations in the β-subunit (encoded by HEXB) lead to Sandhoff disease (SD). The third form results from a deficiency of the GM2 activator protein (GM2AP), a substrate-specific cofactor for HexA. In their infantile, acute forms, these diseases rapidly progress with mental and psychomotor deterioration resulting in death by approximately 4 years of age. After gene transfer that overexpresses one of the deficient subunits, the amount of HexA heterodimer formed would empirically be limited by the availability of the other endogenous Hex subunit. The present study used a new variant of the human HexA α-subunit, μ, incorporating critical sequences from the β-subunit that produce a stable homodimer (HexM) and promote functional interactions with the GM2AP- GM2 complex. We report the design of a compact adeno-associated viral (AAV) genome using a synthetic promoter-intron combination to allow self-complementary (sc) packaging of the HEXM gene. Also, a previously published capsid mutant, AAV9.47, was used to deliver the gene to brain and spinal cord while having restricted biodistribution to the liver. The novel capsid and cassette design combination was characterized in vivo in TSD mice for its ability to efficiently transduce cells in the central nervous system when delivered intravenously in both adult and neonatal mice. This study demonstrates that the modified HexM is capable of degrading long-standing GM2 storage in mice, and it further demonstrates the potential of this novel scAAV vector design to facilitate widespread distribution of the HEXM gene or potentially other similar-sized genes to the nervous system.

  6. Proof of pipeline strength based on measurements of inspection pigs; Festigkeitsnachweis von Pipelines aufgrund der Messergebnisse von Pruefmolchen

    Energy Technology Data Exchange (ETDEWEB)

    De la Camp, H.J.; Feser, G.; Hofmann, A.; Wolf, B.; Schmidt, H. [TUeV Sueddeutschland Bau und Betrieb GmbH, Muenchen (Germany); Herforth, H.E.; Juengling, K.H.; Schmidt, W. [TUeV Anlagentechnik GmbH, Berlin-Schoeneberg (Germany). Unternehmensgruppe TUeV Rheinland/Berlin-Brandenburg

    2002-01-01

    The report is aimed at collecting and documenting the state of the art and the extensive know how of experts and pipeline operators with regard to judging the structural integrity of pipelines. In order to assess the actual mechanical strength of pipelines based on measurement results obtained by inspection pigs, guidance is given for future processing, which eventually can be used as a basis for an industry standard. A literature study of the commercially available types of inspection pigs describes and synoptically lists the respective pros and cons. In essence the report comprises besides check lists of operating data for the pipeline and the pig runs mainly the evaluation of defects and respective calculating procedures. Included are recommendations regarding maintenance planning, verification of defects as well as repetition of pig runs. (orig.) [German] Ziel des Berichtes ist die Erfassung und Dokumentation zum derzeitigen Stand der Technik und des vorhandenen umfangreichen Know-how von Sachverstaendigen und Pipelinebetreibern auf dem Gebiet der sicherheitstechnischen Beurteilung von Pipelines. Fuer den Festigkeitsnachweis von Pipelines aufgrund der Messergebnisse von Pruefmolchen wurde ein Leitfaden als Basis fuer die zukuenftige Vorgehensweise erstellt, der eventuell die Grundlage eines normativen Regelwerkes bilden kann. In einer Literaturstudie wurden die auf dem Markt befindlichen Pruefmolchtypen zusammenfassend beschrieben und ihre Vor- und Nachteile tabellarisch gegenuebergestellt und bewertet. Neben der Erstellung von Checklisten fuer notwendige Daten zum Betrieb der Pipeline und der Molchlaeufe bildet die Fehlerbewertung mit entsprechenden Berechnungsverfahren den Hauptteil dieses Berichtes. Hinweise zur Instandhaltungsplanung (Fehlerverifikation und Molchlaufwiederholung) werden gegeben. (orig.)

  7. Ein „neuer" javanischer Fundort von Phrynoglossus laevis laevis ( Gthr.)

    NARCIS (Netherlands)

    Brongersma, L.D.

    1935-01-01

    In der herpetologischen Sammlung, die dem Rijksmuseum van Natuurlijke Historie, Leiden, vor etwa hundert Jahre von Boie und Macklot übersandt wurde, befanden sich zwei Exemplare von Phrynoglossus laevis laevis (Gthr.). Diese Stücke wurden von Van Kampen (1923, p. 232 Fussnote: Oxyglossus laevis) in

  8. Neuro- und Gliotoxizität von Wolframcarbid-basierten Nanopartikeln in vitro

    OpenAIRE

    Bastian, Susanne

    2011-01-01

    Die Anzahl neurodegenerativer Erkrankungen nimmt in unserer Gesellschaft stetig zu. Obwohl inzwischen eine Reihe genetischer Ursachen identifiziert worden sind, wird auch der Einfluss von Umweltfaktoren bei der Pathogenese dieser Erkrankungen zunehmend in Betracht gezogen. Der Beitrag von ultrafeinen Partikeln aus Industrie und Umwelt auf neurodegenerative Erkrankungen steht daher zunehmend im Fokus der Forschung. Die Translokation von ultrafeinen Partikeln bzw. Nanopartikeln ins Gehirn ist b...

  9. Muuga / Mary von Grünewaldt ; tõlk. Mati Sirkel

    Index Scriptorium Estoniae

    Grünewaldt, Mary von

    2004-01-01

    Leo Zoegelt ostetud Muuga mõisahoone korrastamisest ja uue hoone ehitamisest C. T. von Neffi kunstikogu paigutamise tarbeks. Tütre mälestused. Tõlgitud raamatust: Skizzen und Bilder aus dem Leben Carl Timoleon von Neff / Mary von Grünewaldt. Darmstadt, 1887

  10. Die grossen Physiker und ihre Entdeckungen von den fallenden Körpern zu den Quarks

    CERN Document Server

    Segrè, Emilio

    1998-01-01

    Von Galileo Galilei bis zu Richard Feynman und Murray Gell-Mann - von den fallenden Körpern zu den Quarks: Der Physiknobelpreisträger Emilio Segre hat seine ganz persönliche Geschichte der Physik geschrieben. Er erzählt von den großen Gestalten und deren wichtigen Entdeckungen mit großer Anschaulichkeit und Lebendigkeit.

  11. Vergleich verschiedener Methoden zur Haftkraftmessung von Dentinadhäsiven

    OpenAIRE

    Schwertner, Katharina

    2010-01-01

    Zur Bestimmung der Haftkraft von Adhäsiven stehen verschiedene Methoden zur Verfügung. Ziel dieser Studie war es, vier gebräuchliche in vitro Haftkraftmessmethoden (Tensile Bond Strength Test, Shear Bond Strength Test, Microtensile Bond Strength Test, Push-out Bond Strength Test) an drei unterschiedlichen Adhäsivsystemen (Syntac, Clearfil SE Bond, Adper Scotchbond Multi Purpose) zu testen und die Ergebnisse zu vergleichen. Die Haftkräfte sind abhängig von der verwendeten Messmethode. Viele Pa...

  12. The smooth entropy formalism for von Neumann algebras

    International Nuclear Information System (INIS)

    Berta, Mario; Furrer, Fabian; Scholz, Volkher B.

    2016-01-01

    We discuss information-theoretic concepts on infinite-dimensional quantum systems. In particular, we lift the smooth entropy formalism as introduced by Renner and collaborators for finite-dimensional systems to von Neumann algebras. For the smooth conditional min- and max-entropy, we recover similar characterizing properties and information-theoretic operational interpretations as in the finite-dimensional case. We generalize the entropic uncertainty relation with quantum side information of Tomamichel and Renner and discuss applications to quantum cryptography. In particular, we prove the possibility to perform privacy amplification and classical data compression with quantum side information modeled by a von Neumann algebra

  13. Dr. Space the life of Wernher von Braun

    CERN Document Server

    Ward, Bob

    2013-01-01

    Written by veteran aerospace journalist Bob Ward, who spent years investigating his subject, this biography presents a revealing but even-handed portrait of the father of modern rocketry. As he chronicles Wernher von Braun's life, Ward explodes many myths and misconceptions about the controversial genius who was a hero to some, a villain to others. The picture of von Braun that emerges is of a brilliant scientist with limitless curiosity and a drive to achieve his goals at almost any price from, developing the world's first ballistic missile used against the Allies in World War II to help

  14. Die Bundesstatistik als Anbieter und Nutzer von raumbezogenen Daten

    Directory of Open Access Journals (Sweden)

    R. Humbel

    Einige konkrete und potentielle Anwendungen der vorhandenen Daten sollen das Potential und die Breite der Fragestellungen, die damit angegangen werden können, illustrieren. Eine besondere Stellung dürfte in Zukunft aber auch die Satellitenfernerkundung erhalten, deren Daten und Auswertungen eine willkommene Ergänzung für die eher traditionellen GIS-Datensätze bilden werden. Ein erster Pilotversuch wurde vor wenigen Monaten im BFS gestartet, der zum Ziel hat, die Machbarkeit einer gesamtschweizerischen Unterscheidung von Laub-, Nadel- und Mischwald als Ergänzung der auf der Grundlage von konventionellen Luftbildern erhobenen Arealstatistik nachzuweisen.

  15. The smooth entropy formalism for von Neumann algebras

    Energy Technology Data Exchange (ETDEWEB)

    Berta, Mario, E-mail: berta@caltech.edu [Institute for Quantum Information and Matter, California Institute of Technology, Pasadena, California 91125 (United States); Furrer, Fabian, E-mail: furrer@eve.phys.s.u-tokyo.ac.jp [Department of Physics, Graduate School of Science, University of Tokyo, Tokyo, Japan and Institute for Theoretical Physics, Leibniz University Hanover, Hanover (Germany); Scholz, Volkher B., E-mail: scholz@phys.ethz.ch [Institute for Theoretical Physics, ETH Zurich, Zurich (Switzerland)

    2016-01-15

    We discuss information-theoretic concepts on infinite-dimensional quantum systems. In particular, we lift the smooth entropy formalism as introduced by Renner and collaborators for finite-dimensional systems to von Neumann algebras. For the smooth conditional min- and max-entropy, we recover similar characterizing properties and information-theoretic operational interpretations as in the finite-dimensional case. We generalize the entropic uncertainty relation with quantum side information of Tomamichel and Renner and discuss applications to quantum cryptography. In particular, we prove the possibility to perform privacy amplification and classical data compression with quantum side information modeled by a von Neumann algebra.

  16. Kodierung von Metadaten digitaler Briefeditionen in TEI-XML

    OpenAIRE

    Dumont, Stefan

    2017-01-01

    Folien zu einem Vortrag im Rahmen des Digital-Humanities-Kolloquium an der BBAW am 7.7.2017. Der Vortrag erläutert, ausgehend von editionswissenschaftlichen Entwicklungen der 1980er und 1990er Jahre, wie die "Kopfdaten" eines Briefes nach den Richtlinien der Text Encoding Initiative (TEI) kodiert werden können. Insbesondere wird auf das TEI-Element correspDesc eingegangen und die Kodierung anhand eines Beispiels veranschaulicht. Darüber hinaus wird der Mehrwert von Briefmetadaten sowohl für d...

  17. Collide@CERN: sharing inspiration

    CERN Multimedia

    Katarina Anthony

    2012-01-01

    Late last year, Julius von Bismarck was appointed to be CERN's first "artist in residence" after winning the Collide@CERN Digital Arts award. He’ll be spending two months at CERN starting this March but, to get a flavour of what’s in store, he visited the Organization last week for a crash course in its inspiring activities.   Julius von Bismarck, taking a closer look... When we arrive to interview German artist Julius von Bismarck, he’s being given a presentation about antiprotons’ ability to kill cancer cells. The whiteboard in the room contains graphs and equations that might easily send a non-scientist running, yet as Julius puts it, “if I weren’t interested, I’d be asleep”. Given his numerous questions, he must have been fascinated. “This ‘introduction’ week has been exhilarating,” says Julius. “I’ve been able to interact ...

  18. Analyse der pharmazeutischen Versorgungssituation von Patienten mit Psoriasis-Arthritis auf Basis von Routinedaten der Gesetzlichen Krankenversicherung.

    Science.gov (United States)

    Sondermann, Wiebke; Ventzke, Julia; Matusiewicz, David; Körber, Andreas

    2018-03-01

    Die Psoriasis-Arthritis (PsA) gehört zu den chronisch entzündlichen Gelenkerkrankungen. Trotz zahlreicher versorgungswissenschaftlicher Studien in Deutschland liegen zur pharmazeutischen Versorgungssituation von PsA-Patienten bisher kaum aktuelle Ergebnisse vor. Mit Hilfe einer systematischen Literaturrecherche sowie anhand von Routinedaten der Allgemeinen Ortskrankenkasse (AOK) Rheinland/Hamburg wird ein aktueller Überblick über die pharmazeutische Versorgung von PsA-Patienten in Deutschland gegeben. Selektiert wurden Versicherte aus dem ambulanten und stationären Bereich, die im 1. und 2. Quartal des Jahres 2014 die gesicherte Abrechnungsdiagnose Psoriasis-Arthritis L40.5+ aufwiesen. Anschließend wurden auf Basis dieser "vorab definierten" Kohorte die Arzneimitteldaten für 5 Jahre (01.01.2010-31.12.2014) abgerufen. Es konnten insgesamt n  =  3205 Versicherte (45 % männlich, 55 % weiblich) der AOK Rheinland/Hamburg mit einer gesicherten PsA-Diagnose selektiert werden. Das Durchschnittsalter betrug 58,9 Jahre. 53,7 % der PsA-Patienten wurden mit systemischen PsA-relevanten Arzneimitteln versorgt. Nichtsteroidale Antirheumatika (NSAR) wurden am häufigsten verordnet, gefolgt von systemischen Glucocorticoiden. Von den selektierten PsA-Patienten, die eine Systemtherapie erhielten, wurden 72,1 % mittels einer Disease-modifying-antirheumatic-Drug (DMARD)-Monotherapie behandelt, gefolgt von der Kombinationstherapie aus DMARDs und Biologika (20,9 %). Die pharmakologische Therapie der PsA muss eine Gewährleistung zwischen adäquater Versorgung der PsA mit Verhinderung der Krankheitsprogression und ökonomischer Verantwortung darstellen. © 2018 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

  19. ‘A dialogue about the art of portraiture’ Originally published as ‘Gespräch von der Bildniskunst’, Österreichische Rundschau, Volume 6, 1906, 502—516, and republished: Julius Schlosser, Präludien Vorträge und Aufsätze, Berlin: Bard 1927, 227—247. Translated with an introduction by Karl Johns

    Directory of Open Access Journals (Sweden)

    Julius Schlosser

    2011-12-01

    Full Text Available In an unusually popular and readable dialogue form, Schlosser alludes to the classical education he takes for granted in any reader approaching his favourite ‘thorny’ questions from aesthetics and history. These involve the problems of naturalism, impressionism, portrait likeness, psychology of perception and numerous others being bandied around academic circles at the turn of the century. It is of further interest in directly referring critically to his recently deceased friend (Alois Riegl, and being written just at a moment in his career when Schlosser had been casting around the ideas of Ernst Brücke, Konrad Lange, even Henri Bergson, but had discovered the recent contribution of Benedetto Croce, which would colour his approach with an increasing intensity for the remainder of his life. He became what might be seen as the archetypical art historical theorist, but continues to distinguish himself from his successors by his greater consistency.

  20. Entwicklung von Antikörper-Mikroarray : von Biophysik der Mikrospot-Reaktion bis zur Hochdurchsatzanalyse der Proteine

    OpenAIRE

    Kusnezow, Wlad

    2007-01-01

    Obwohl Protein-Mikroarrays ursprünglich aus dem gut entwickelten und fest etablierten DNA-Pendant entstanden sind, repräsentierte jedoch die Umstellung der Mikroarray-Technik von der DNA- auf die Proteinanalyse aufgrund der enormen physikalisch-chemischen Variabilität der Proteine, deren relativ niedrigen Stabilität und der komplexen Mikrospot-Kinetik eine große technologische Herausforderung. Deshalb setzt das Vorhaben, die Technik der Antikörper–Mikroarrays von ihrem konzeptuellen Zustand a...

  1. Automatische Ableitung und Anwendung von Regeln für die Rekonstruktion von Fassaden aus heterogenen Sensordaten

    OpenAIRE

    Becker, Susanne

    2011-01-01

    3D-Stadtmodelle finden seit einigen Jahren in immer stärkerem Maß und in den verschiedensten Bereichen Verwendung. Sie bilden unter anderem die Grundlage bei Stadtplanungen, für virtuelle Stadtrundgänge oder für die Berechnung von Simulationen. Internetdiensten wie Google Earth oder Microsoft Bing Maps ist es zu verdanken, dass 3D-Darstellungen von Gebäuden mittlerweile auch für eine breite Öffentlichkeit allgegenwärtig sind. Die erhöhte Nachfrage nach 3D-Gebäudemodellen verlangt nach effizie...

  2. Von-Neumann and Beyond: Memristor Architectures

    KAUST Repository

    Naous, Rawan

    2017-05-01

    An extensive reliance on technology, an abundance of data, and increasing processing requirements have imposed severe challenges on computing and data processing. Moreover, the roadmap for scaling electronic components faces physical and reliability limits that hinder the utilization of the transistors in conventional systems and promotes the need for faster, energy-efficient, and compact nano-devices. This work thus capitalizes on emerging non-volatile memory technologies, particularly the memristor for steering novel design directives. Moreover, aside from the conventional deterministic operation, a temporal variability is encountered in the devices functioning. This inherent stochasticity is addressed as an enabler for endorsing the stochastic electronics field of study. We tackle this approach of design by proposing and verifying a statistical approach to modelling the stochastic memristors behaviour. This mode of operation allows for innovative computing designs within the approximate computing and beyond Von-Neumann domains. In the context of approximate computing, sacrificing functional accuracy for the sake of energy savings is proposed based on inherently stochastic electronic components. We introduce mathematical formulation and probabilistic analysis for Boolean logic operators and correspondingly incorporate them into arithmetic blocks. Gate- and system-level accuracy of operation is presented to convey configurability and the different effects that the unreliability of the underlying memristive components has on the intermediary and overall output. An image compression application is presented to reflect the efficiency attained along with the impact on the output caused by the relative precision quantification. In contrast, in neuromorphic structures the memristors variability is mapped onto abstract models of the noisy and unreliable brain components. In one approach, we propose using the stochastic memristor as an inherent source of variability in

  3. Der Zusammenhang von Partnermarktopportunitäten aus dem Freundeskreis und der Stabilität von Paarbeziehungen : Eine Analyse mit den Daten des Partnermarktsurvey

    OpenAIRE

    Häring, Armando

    2014-01-01

    "Der Beitrag analysiert den Zusammenhang zwischen Partnermarktoportunitäten aus dem Freundeskreis und der Stabilität von Paarbeziehungen. Unter Verwendung des theoretischen Konzepts der Theorie der Interaktionsgelegenheiten sowie von Annahmen der Austauschtheorie und der Familienökonomie, werden mögliche Zusammenhänge zwischen gemeinsamen Freundeskreisen mit dem Partner, Partnermarktgelegenheiten aus dem Freundeskreis (sex ratio) und der Stabilität von Paarbeziehungen diskutiert. Der Beitrag ...

  4. Kaubandussanktsioonide otstarbekusest / Jeffrey D. Sachs

    Index Scriptorium Estoniae

    Sachs, Jeffrey D.

    2003-01-01

    Autor leiab, et kaubandus- ja finantssanktsioonide rakendamine diktaatorlikele režiimidele on vale lähenemine, kuna rahvusvaheline marginaalitsemine haavab tavalisi kodanikke enam kui despootlikke süsteeme.

  5. Von Kármán between Aachen and Pasadena

    Science.gov (United States)

    Krause, Egon; Kalkmann, Ulrich

    2013-05-01

    In the Introduction the reader is referred back to the academic ceremonials held after Theodore von Kármán's death in Aachen in May 1963. His work as the first director of the Aerodynamisches Institut (Institute of Aerodynamics) of the RWTH Aachen University of Technology from 1913 on and his initiative to re-establish international cooperation after World War I, resulting in the International Union of Theoretical and Applied Mechanics (IUTAM), are commented on. The following chapter describes von Kármán's relation to his former teacher Ludwig Prandtl. Some of von Kármán's scientific contributions during his time in Aachen are briefly reviewed. Thereafter, his first contacts to the California Institute of Technology are covered. Finally, the scientific and political circumstances, which led to von Kármán's decision to leave Germany in the early thirties, are elucidated in some detail. The English translation of the titles of the Aachen papers is given in Appendix I.

  6. Wernher von Braun: Reflections on His Contributions to Space Exploration

    Science.gov (United States)

    Goldman, Arthur E.

    2012-01-01

    In 1950, Dr. Wernher von Braun and approximately 100 of his team members came to Huntsville, Alabama, to begin work with the Army on what would later become America's historic space program. He would later serve as the first director of the Marshall Space Flight Center and led the development of the Saturn V launch vehicle that launched seven crewed American mission to the moon, as well as America s first space station, Skylab. Von Braun is best known for his team s technical achievements. He realized his dream of exploring outer space by helping place humans on the moon. His engineering and managerial talent during the Apollo era had contributed to a technological revolution. He was by all accounts a good engineer, but he was only one among many. What set Von Braun apart were his charisma, his vision, and his leadership skills. He inspired loyalty and dedication in the people around him. He understood the importance of communicating his vision to his team, to political and business leaders and the public. Today, the Marshall Center continues his vision by pursuing engineering and scientific projects that will continue to open space to exploration. This presentation will discuss Von Braun's impact on Huntsville, the Marshall Center, the nation and the world and look at his contributions in context of where world space exploration is today.

  7. Nonlinear von Neumann equations for quantum dissipative systems

    International Nuclear Information System (INIS)

    Messer, J.; Baumgartner, B.

    1978-01-01

    For pure states nonlinear Schroedinger equations, the so-called Schroedinger-Langevin equations are well-known to model quantum dissipative systems of the Langevin type. For mixtures it is shown that these wave equations do not extend to master equations, but to corresponding nonlinear von Neumann equations. Solutions for the damped harmonic oscillator are discussed. (Auth.)

  8. Nonlinear von Neumann equations for quantum dissipative systems

    International Nuclear Information System (INIS)

    Messer, J.; Baumgartner, B.

    For pure states nonlinear Schroedinger equations, the so-called Schroedinger-Langevin equations are well-known to model quantum dissipative systems of the Langevin type. For mixtures it is shown that these wave equations do not extend to master equations, but to corresponding nonlinear von Neumann equations. Solutions for the damped harmonic oscillator are discussed. (Author)

  9. Dr. von Braun With a Model of a Launch Vehicle

    Science.gov (United States)

    1950-01-01

    Dr. von Braun stands beside a model of the upper stage (Earth-returnable stage) of the three-stage launch vehicle built for the series of the motion picture productions of space flight produced by Walt Disney in the mid-1950's.

  10. Ernst von Glasersfeld's Radical Constructivism and Truth as Disclosure

    Science.gov (United States)

    Joldersma, Clarence W.

    2011-01-01

    In this essay Clarence Joldersma explores radical constructivism through the work of its most well-known advocate, Ernst von Glasersfeld, who combines a sophisticated philosophical discussion of knowledge and truth with educational practices. Joldersma uses Joseph Rouse's work in philosophy of science to criticize the antirealism inherent in…

  11. Eritrea : Von der Befreiung zur Unterdrückung

    NARCIS (Netherlands)

    van Reisen, Mirjam; Buck, K.D.

    2015-01-01

    Über das heutige Eritrea ist nur wenig bekannt. Als das kleine Land am Horn von Afrika 1993 die Unabhängigkeit erlangte, waren nicht nur im Land selbst die Hoffnungen groß, dass nach dem dreißig Jahre dauernden Befreiungskampf gegen Äthiopien eine bessere und friedliche Zukunft für alle beginnen

  12. Sakslased tulevad! Ärevad ajad Tallinnas Von Krahli Teatris

    Index Scriptorium Estoniae

    2001-01-01

    Von Krahli Teater ja Showcase Beat Le Mot valmistuvad oma esimeseks koostööprojektiks - lavastuseks "Pirates", kus osalevad mõlema teatri näitlejad ja tehnikud. Ühisprojekti toetavad Goethe Instituut, Hamburgi Linnavalitsus ja Eesti Kultuurkapital

  13. Professor Oberth and Dr. von Braun at ARS Banquet

    Science.gov (United States)

    1961-01-01

    Dr. Wernher von Braun holds the coveted Hermarn Oberth award presented to him by Professor Oberth during the banquet hosted by the Alabama Section of the American Rocket Society (ARS), on October 19, 1961. The Oberth award was given for outstanding technical contributions to the field of astronautics or for the promotion and advancement of astronautical sciences.

  14. Semiparametric Bernstein–von Mises for the error standard deviation

    NARCIS (Netherlands)

    Jonge, de R.; Zanten, van J.H.

    2013-01-01

    We study Bayes procedures for nonparametric regression problems with Gaussian errors, giving conditions under which a Bernstein–von Mises result holds for the marginal posterior distribution of the error standard deviation. We apply our general results to show that a single Bayes procedure using a

  15. Semiparametric Bernstein-von Mises for the error standard deviation

    NARCIS (Netherlands)

    de Jonge, R.; van Zanten, H.

    2013-01-01

    We study Bayes procedures for nonparametric regression problems with Gaussian errors, giving conditions under which a Bernstein-von Mises result holds for the marginal posterior distribution of the error standard deviation. We apply our general results to show that a single Bayes procedure using a

  16. De identiteit van Portulaca advena Reichg. & Von Poellnitz

    NARCIS (Netherlands)

    Geesink, R.

    1969-01-01

    Portulaca advena Reichg. & Von Poellnitz (1939), based on adventive specimens collected near Erp, prov. N.-Brabant, Netherlands, and afterwards cultivated in a garden at Nijmegen, appears to be identical with the South American P. papulosa Schldl. (1853). The adventive species of Portulaca found in

  17. Alexander von Humboldt's invention of the natural landscape

    NARCIS (Netherlands)

    Kwa, C.

    2005-01-01

    Landscape took on a new meaning through the new science of plant geography of Alexander von Humboldt (1769-1857). In the seventeenth and eighteenth centuries, "landscape" was foremost a painterly genre. Slowly, painted landscapes came to bear on natural surroundings, but by 1800 it was still not

  18. KK -theory and spectral flow in von Neumann algebras

    DEFF Research Database (Denmark)

    Kaad, Jens; Nest, Ryszard; Rennie, Adam

    2012-01-01

    We present a definition of spectral flow for any norm closed ideal J in any von Neumann algebra N. Given a path of selfadjoint operators in N which are invertible in N/J, the spectral flow produces a class in Ko (J). Given a semifinite spectral triple (A, H, D) relative to (N, t) with A separable...

  19. Enfermedad de Von Gierke: Reporte de tres casos

    Directory of Open Access Journals (Sweden)

    E. Espinosa

    2001-07-01

    Full Text Available La enfermedad de Von Gierke es un defecto en la glucosa 6 fosfatasa, degrada el glucógeno en el hígado, riñón e intestino. Asociada con hipoglicemia, acidosis láctica e hiperuricemia.

  20. A von Neumann type inequality for certain domains in Cn

    Czech Academy of Sciences Publication Activity Database

    Ambrozie, Calin-Grigore; Timotin, D.

    2002-01-01

    Roč. 131, č. 3 (2002), s. 859-869 ISSN 0002-9939 R&D Projects: GA ČR GA201/03/0041 Institutional research plan: CEZ:AV0Z1019905 Keywords : von Neumann inequality * multioperators * Nevanlinna-Pick problem Subject RIV: BA - General Mathematics Impact factor: 0.334, year: 2002

  1. Characterizing ξ-Lie Multiplicative Isomorphisms on Von Neumann Algebras

    Directory of Open Access Journals (Sweden)

    Yamin Song

    2014-01-01

    Full Text Available Let ℳ and be von Neumann algebras without central summands of type I1. Assume that ξ∈ℂ with ξ≠1. In this paper, all maps Φ:ℳ→ satisfying ΦAB-ξBA=ΦAΦB-ξΦBΦ(A are characterized.

  2. A bicategorical approach to Morita equivalence for Von Neumann algebras

    NARCIS (Netherlands)

    R.M. Brouwer (Rachel)

    2003-01-01

    textabstractWe relate Morita equivalence for von Neumann algebras to the ``Connes fusion'' tensor product between correspondences. In the purely algebraic setting, it is well known that rings are Morita equivalent if and only if they are equivalent objects in a bicategory whose 1-cells are

  3. A paradox of rationality à la von Neumann-Morgenstern

    NARCIS (Netherlands)

    Ismail, M.S.

    2015-01-01

    We show that there are games and decision situations in which it is not possible for the decision maker to be rational a la von Neumann-Morgenstern in both situations simultaneously, which is the source of the paradox presented in this note. We provide an assumption which is the necessary and

  4. Extensions of von Neumann's method for generating random variables

    International Nuclear Information System (INIS)

    Monahan, J.F.

    1979-01-01

    Von Neumann's method of generating random variables with the exponential distribution and Forsythe's method for obtaining distributions with densities of the form e/sup -G//sup( x/) are generalized to apply to certain power series representations. The flexibility of the power series methods is illustrated by algorithms for the Cauchy and geometric distributions

  5. Computed tomography of von Meyenburg complex simulating micro-abscesses

    International Nuclear Information System (INIS)

    Sada, P.N.; Ramakrishna, B.

    1994-01-01

    A case is presented of a bile duct hamartoma in a 44 year old man being evaluated for abdominal pain. The computed tomography (CT) findings suggested micro-abscesses in the liver and a CT guided tru-cut biopsy showed von Meyenburg complex. 9 refs., 3 figs

  6. Ueber die arten und den Skelettbau von Culcita

    NARCIS (Netherlands)

    Hartlaub, Clemens

    1892-01-01

    Das Genus Culcita Agass. zählt durch die merkwürdige Form und die ansehnliche Grösse seiner Arten zu den interessantesten Asteriden, und gut conservirte Exemplare davon gehören zu den Zierden unsrer Museen. Um so bedauerlicher erschien es mir, als ich vor einiger Zeit den Versuch machte die von

  7. Mollusken aus posttertiären Schichten von Celebes

    NARCIS (Netherlands)

    Schepman, M.M.

    1912-01-01

    Die im Folgenden behandelten Mollusken stammen aus der Nähe von Kajoe ragi auf Celebes, woselbst sie durch R. FENNEMA aus denselben Schichten ausgelesen wurden, aus denen früher durch J. G. DE MAN einige brachyure Krebse beschrieben sind. Es darf deswegen betreffs näherer Angaben über die Herkunft

  8. Die Korallenfauna des Perm von Timor und die permische Vereisung

    NARCIS (Netherlands)

    Gerth, H.

    1926-01-01

    Bei den zahlreichen Rekonstruktionen der klimatologischen Verhältnisse, die man für das Ende des Palaeozoikums gemacht hat, ist man fast immer von der Kohlenbildung, der Florenverbreitung und den Vereisungserscheinungen ausgegangen. Der marinen Tierwelt hat man bei der Behandlung dieser Fragen meist

  9. Ueber einige Entwicklungsstadien von Rhopilema hispidum (Vanhoeffen) Maas

    NARCIS (Netherlands)

    Stiasny, G.

    1933-01-01

    Gelegentlich der Durchsicht einiger älterer Planktonfänge aus dem malayischen Archipel in den Sammlungen des Rijks Museum van Natuurlijke Historie in Leiden fanden sich zahlreiche Entwicklungsstadien von Rhopilema hispidum (VANH.) MAAS vor, über die ich hier kurz berichten will. Ueber die

  10. Fossile Säugethierreste von Java und Japan

    NARCIS (Netherlands)

    Martin, K.

    1884-01-01

    Die Beschreibung eines Stegodontenzahnes von Java in der vorhergehenden Abhandlung dieses Bandes ist die Veranlassung geworden, dass De Koninklijke Natuurkundige Vereeniging in Nederlandsch Indië eine grosse Sammlung fossiler Säugethierreste dem Geologischen Museum in Leiden übersandte. Es befinden

  11. Minimum Moduli in Von Neumann Algebras | Gopalraj | Quaestiones ...

    African Journals Online (AJOL)

    In this paper we answer a question raised in [12] in the affirmative, namely that the essential minimum modulus of an element in a von. Neumann algebra, relative to any norm closed two-sided ideal, is equal to the minimum modulus of the element perturbed by an element from the ideal. As a corollary of this result, we ...

  12. Die Rolle von Osteoklasten bei der arthritischen Knochenerosion

    Directory of Open Access Journals (Sweden)

    Schett G

    2003-01-01

    Full Text Available Knöcherne Erosionen stellen eine wesentliche Ursache für die funktionelle Einschränkung von Patienten mit rheumatoider Arthritis dar. Bis vor kurzem war über den Pathomechanismus dieser Veränderungen nur wenig bekannt. Dieser Review faßt die letzten Erkenntnisse über die Ausbildung einer Knochenschädigung bei entzündlichen Gelenkerkrankungen zusammen und fokussiert insbesondere die Rolle von Osteoklasten. Es wird ein Überblickzu den Hinweisen für eine Präsenz von Osteoklasten im entzündlich veränderten Gelenk gegeben. Weiters werden die Faktoren diskutiert, die die Osteoklastogenese im Rahmen einer Gelenkentzündung aktivieren können. Hier wird im besonderen auf die Rolle von Receptor-Activator of Nuclear Factor Kappa B Ligand (RANKL eingegangen. Im weiteren werden die Auswirkungen einer Osteoklastenhemmung in den verschiedenen Arthritismodellen zusammengefaßt und Möglichkeiten einer therapeutischen Nutzung bei rheumatoider Arthritis diskutiert.

  13. Von Willebrand Factor Gene Variants Associate with Herpes simplex Encephalitis

    Czech Academy of Sciences Publication Activity Database

    Abdelmagid, N.; Bereczky-Veress, B.; Atanur, S.; Musilová, Alena; Zídek, Václav; Saba, L.; Warnecke, A.; Khademi, M.; Studahl, M.; Aurelius, E.; Hjalmarsson, A.; Garcia-Dias, A.; Denis, C. V.; Bergström, T.; Sköldenberg, B.; Kockum, I.; Aitman, T.; Hübner, N.; Olsson, T.; Pravenec, Michal; Diez, M.

    2016-01-01

    Roč. 11, č. 5 (2016), e0155832 E-ISSN 1932-6203 R&D Projects: GA MŠk(CZ) 7E10067; GA MŠk(CZ) LL1204 Institutional support: RVO:67985823 Keywords : Von Willebrand Factor gene * Herpes simplex encephalitis * rat * humans Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.806, year: 2016

  14. Die filmstilistische Darstellung von Klaras Gehbehinderung im Kinderfilm "Heidi"

    Directory of Open Access Journals (Sweden)

    Maria Ohrfandl

    2016-09-01

    Full Text Available Dieser Beitrag soll die Forschungslücke zur Darstellung von Behinderungen speziell im Kinderfilm im deutschsprachigen Raum füllen. Auf Basis einer neoformalistisch orientierten Filmanalyse nach Bordwell und Thompson (2008, wird anhand von drei Filmsequenzen eine mögliche Lesart des Kinderfilms "Heidi" (Marcus 2005 entwickelt, um die filmstilistische Darstellung der Gehbehinderung des Mädchens Klara zu untersuchen. Die Ergebnisse werden mit theoretischen Überlegungen zur Problematik der Begriffsbestimmung von Körperbehinderung sowie zur Mobilität und Selbstbestimmung von Menschen mit Körperbehinderungen in Bezug gesetzt. Dabei zeigt sich im Wesentlichen, dass im Kinderfilm "Heidi" (Marcus 2005 Klaras Gehbehinderung als 'heilbare Krankheit' und der Rollstuhl als Einschränkung von Mobilität begriffen wird. Außerdem unterliegt Klara aufgrund ihrer Körperbehinderung überwiegend der Fremdbestimmung von Erwachsenen. Zur Klärung wahrscheinlicher filmischer Bildungspotenziale werden die Ergebnisse schließlich anhand der von Jörissen und Marotzki (2009 entwickelten Orientierungsdimensionen "Wissens-, Handlungs-, Grenz- und Biographiebezug" diskutiert. This article aims to bridge a knowledge gap by showing ways of representing disabilities in the German children film genre. Using Bordwell and Thomson's (2008 neoformalistically orientated film analysis approach, the movie "Heidi" (Marcus 2005 is analysed. Bordwell and Thompson's (2008 method is applied to three sequences of "Heidi" in order to present an interpretation and to discuss the representation of Clara's walking impediment. The results are then associated with theoretical considerations regarding the mobility and self-determination of people with disabilities and problematic definitions of the term 'physical disability'. It is shown that characters in the children's film "Heidi" (Marcus 2005 regard Clara's walking impediment as a 'curable disease' and the wheelchair as a limitation

  15. Optimierung der Gesichtsklassifikation bei der Erkennung von Akromegalie

    Directory of Open Access Journals (Sweden)

    Frohner R

    2013-01-01

    Full Text Available In vorausgegangenen Studien konnte gezeigt werden, dass eine Gesichtsklassifikation mittels Gesichtsphotographien zur Diagnostik von Akromegalie mit guten Ergebnissen eingesetzt werden kann. In diesem Artikel werden die grundlegende Vorgehensweise der Klassifikation mittels der Software FIDA erläutert sowie Optimierungsansätze mit dem Ziel diskutiert, diese Methode näher an den klinischen Einsatz zu bringen. Die Gesichtsklassifikation basiert auf „Knotenpunkten“, die verteilt über die jeweilige Frontal- und/oder Seitenansicht des Gesichts platziert werden und den so genannten „Graphen“ bilden. Mittels mathematischer Verfahren erfolgt eine Analyse der zugrunde liegenden Textur des Bildes sowie die Auswertung geometrischer Informationen. Untersucht wird, wie sich die Reduktion von als irrelevant eingestuften Knoten auf das Klassifikationsergebnis auswirkt. Ebenso wird untersucht, wie sich neu definierte Knoten, die die typischen morphologischen Veränderungen der akromegalen Erkrankung im Gesicht berücksichtigen, auf die Klassifizierungsergebnisse auswirken. Die interne Validierung erfolgt an einem Datenset bestehend aus 57 an Akromegalie erkrankten Probanden (29 weiblich, 28 männlich sowie 59 Kontrollen (29 weiblich, 30 männlich. Die externe Validierung wird an einer weiteren Stichprobe gemessen, die zum Zeitpunkt der Präsentation auf der Tagung der European Neuroendocrine Association 2012 in Wien 13 akromegale Patienten (7 weiblich, 6 männlich sowie 45 Kontrollen (25 weiblich, 20 männlich umfasste. Die Datenbank wird ständig durch neue Probanden aus verschiedenen Quellen erweitert. Erste Ergebnisse zeigen, dass die Verwendung von Graphen mit reduzierten Knoten und von neuen Sets von Knoten unter Einbeziehung typischer morphologischer Veränderungen des Gesichts die Klassifizierung weiter verbessert. Diese Ergebnisse ermutigen zu weiteren Untersuchungen an einer erweiterten Datenbank.

  16. Eine selbstkonsistente Carleman Linearisierung zur Analyse von Oszillatoren

    Directory of Open Access Journals (Sweden)

    H. Weber

    2017-09-01

    Full Text Available Die Analyse nichtlinearer dynamischer Schaltungen ist bis heute eine herausfordernde Aufgabe, da nur selten analytische Lösungen angegeben werden können. Daher wurden eine Vielzahl von Methoden entwickelt, um eine qualitative oder quantitative Näherung für die Lösungen der Netzwerkgleichung zu erhalten. Oftmals wird beispielsweise eine Kleinsignalanalyse mit Hilfe einer Taylorreihe in einem Arbeitspunkt durchgeführt, die nach den Gliedern erster Ordnung abgebrochen wird. Allerdings ist diese Linearisierung nur in der Nähe des stabilen Arbeitspunktes für hyperbolische Systeme gültig. Besonders für die Analyse des dynamischen Verhaltens von Oszillatoren treten jedoch nicht-hyperbolische Systeme auf, sodass diese Methode nicht angewendet werden kann Mathis(2000. Carleman hat gezeigt, dass nichtlineare Differentialgleichungen mit polynomiellen Nichtlinearitäten in ein unendliches System von linearen Differentialgleichungen transformiert werden können Carleman(1932. Wird das unendlichdimensionale Gleichungssystem für numerische Zwecke abgebrochen, kann bei Oszillatoren der Übergang in eine stationäre Schwingung (Grenzzyklus nicht wiedergegeben werden.In diesem Beitrag wird eine selbstkonsistente Carleman Linearisierung zur Untersuchung von Oszillatoren vorgestellt, die auch dann anwendbar ist, wenn die Nichtlinearitäten keinen Polynomen entsprechen. Anstelle einer linearen Näherung um einen Arbeitspunkt, erfolgt mit Hilfe der Carleman Linearisierung eine Approximation auf einem vorgegebenen Gebiet. Da es jedoch mit der selbstkonsistenten Technik nicht möglich ist, das stationäre Verhalten von Oszillatoren zu beschreiben, wird die Berechnung einer Poincaré-Abbildung durchgeführt. Mit dieser ist eine anschließende Analyse des Oszillators möglich.

  17. Eine selbstkonsistente Carleman Linearisierung zur Analyse von Oszillatoren

    Science.gov (United States)

    Weber, Harry; Mathis, Wolfgang

    2017-09-01

    Die Analyse nichtlinearer dynamischer Schaltungen ist bis heute eine herausfordernde Aufgabe, da nur selten analytische Lösungen angegeben werden können. Daher wurden eine Vielzahl von Methoden entwickelt, um eine qualitative oder quantitative Näherung für die Lösungen der Netzwerkgleichung zu erhalten. Oftmals wird beispielsweise eine Kleinsignalanalyse mit Hilfe einer Taylorreihe in einem Arbeitspunkt durchgeführt, die nach den Gliedern erster Ordnung abgebrochen wird. Allerdings ist diese Linearisierung nur in der Nähe des stabilen Arbeitspunktes für hyperbolische Systeme gültig. Besonders für die Analyse des dynamischen Verhaltens von Oszillatoren treten jedoch nicht-hyperbolische Systeme auf, sodass diese Methode nicht angewendet werden kann Mathis (2000). Carleman hat gezeigt, dass nichtlineare Differentialgleichungen mit polynomiellen Nichtlinearitäten in ein unendliches System von linearen Differentialgleichungen transformiert werden können Carleman (1932). Wird das unendlichdimensionale Gleichungssystem für numerische Zwecke abgebrochen, kann bei Oszillatoren der Übergang in eine stationäre Schwingung (Grenzzyklus) nicht wiedergegeben werden. In diesem Beitrag wird eine selbstkonsistente Carleman Linearisierung zur Untersuchung von Oszillatoren vorgestellt, die auch dann anwendbar ist, wenn die Nichtlinearitäten keinen Polynomen entsprechen. Anstelle einer linearen Näherung um einen Arbeitspunkt, erfolgt mit Hilfe der Carleman Linearisierung eine Approximation auf einem vorgegebenen Gebiet. Da es jedoch mit der selbstkonsistenten Technik nicht möglich ist, das stationäre Verhalten von Oszillatoren zu beschreiben, wird die Berechnung einer Poincaré-Abbildung durchgeführt. Mit dieser ist eine anschließende Analyse des Oszillators möglich.

  18. Otto von Habsburg : III maailmasõda on läbi / Otto von Habsburg ; interv. Marianne Mikko

    Index Scriptorium Estoniae

    Habsburg, Otto von, 1912-2011

    2002-01-01

    Otto von Habsburg vastab küsimustele, mis puudutavad Euroopa konvendi presidendi teadet, et Türgi koht ei ole EL-is, Iraagi võimalikku ründamist, Hiina ja Venemaa suhteid, Tšetšeeniat, tshetsheene ja terrorismi, Venemaa, EL-i ja USA suhteid, III maailmasõda, Eesti Vabariigi tulevikku

  19. No evidence for a direct effect of von Willebrand factor's ABH blood group antigens on von Willebrand factor clearance

    NARCIS (Netherlands)

    Groeneveld, D J; van Bekkum, T; Cheung, K L; Dirven, R J; Castaman, G; Reitsma, P H; van Vlijmen, B; Eikenboom, J

    BACKGROUND: One of the major determinants of von Willebrand factor (VWF) plasma levels is ABO blood group status, and individuals with blood group O have ~ 25% lower plasma levels. The exact mechanism behind this relationship remains unknown, although effects on clearance have been postulated.

  20. Zum 215. Gebutstag von Admiral Ferdinand Baron von Wrangell : (29. Dezember 1797 - 25. 25. Mai 1870) / Peter Krienitz

    Index Scriptorium Estoniae

    Krienitz, Peter

    2012-01-01

    Admiral Ferdinand Baron von Wrangellist tema 215. sünniaastapäeva puhul. Silmapaistavast Kirde-Siberi uurijast. Tema poliitilisest tegevusest ja elust Roela mõisas. Ferdinand Baroni poolt seatud viisil tähistati jõulusid Roelas kuni 1944. aasta lõpuni.

  1. Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matrix coating system and its application to analysis of lipids in brain from a mouse model of Tay-Sachs/Sandhoff disease.

    Science.gov (United States)

    Chen, Yanfeng; Allegood, Jeremy; Liu, Ying; Wang, Elaine; Cachón-Gonzalez, Begoña; Cox, Timothy M; Merrill, Alfred H; Sullards, M Cameron

    2008-04-15

    The quality of tissue imaging by matrix-assisted laser desorption/ionization mass spectrometry (MALDI-MS) depends on the effectiveness of the matrix deposition, especially for lipids that may dissolve in the solvent used for the matrix application. This article describes the use of an oscillating capillary nebulizer (OCN) to spray small droplets of matrix aerosol onto the sample surface for improved matrix homogeneity, reduced crystal size, and controlled solvent effects. This system was then applied to the analysis of histological slices of brains from mice with homozygous disruption of the hexb gene (hexb-/-), a model of Tay-Sachs and Sandhoff disease, versus the functionally normal heterozygote (hexb+/-) by imaging MALDI-MS. This allowed profiling and localization of many different lipid species, and of particular interest, ganglioside GM2, asialo-GM2 (GA2), and sulfatides (ST). The presence of these compounds was confirmed by analysis of brain extracts using electrospray ionization in conjunction with tandem mass spectrometry (MS/MS). The major fatty acid of the ceramide backbone of both GM2 and GA2 was identified as stearic acid (18:0) versus nervonic acid (24:1) for ST by both tissue-imaging MS and ESI-MS/MS. GM2 and GA2 were highly elevated in hexb-/- and were both localized in the granular cell region of the cerebellum. ST, however, was localized mainly in myelinated fiber (white matter) region of the cerebellum as well as in the brain stem with a relatively uniform distribution and had similar relative signal intensity for both hexb+/- and hexb-/- brain. It was also observed that there were distinct localizations for numerous other lipid subclasses; hence, imaging MALDI-MS could be used for "lipidomic" studies. These results illustrate the usefulness of tissue-imaging MALDI-MS with matrix deposition by OCN for histologic comparison of lipids in tissues such as brains from this mouse model of Tay-Sachs and Sandhoff disease.

  2. [beta]-hexosaminidase isozymes from cells cotransfected with [alpha] and [beta] cDNA constructs: Analysis of the [alpha]-subunit missense mutation associated with the adult form of Tay-Sachs disease

    Energy Technology Data Exchange (ETDEWEB)

    Brown, C.A.; Mahuran, D.J. (Univ. of Toronto (Canada))

    1993-08-01

    In vitro mutagenesis and transient expression in COS cells has been used to associate a missense mutation with a clinical or biochemical phenotype. Mutations affecting the [alpha]-subunit of [beta]-hexosaminidase A ([alpha][beta]) (E.C.3.2.1.52) result in Tay-Sachs disease. Because hexosaminidase A is heterodimeric, analysis of [alpha]-chain mutations is not straightforward. The authors examine three approaches utilizing previously identified mutations affecting [alpha]-chain folding. These involve transfection of (1) the [alpha] cDNA alone; (2) a [beta] cDNA construct encoding a [beta]-subunit substituted at a position homologous to that of the [alpha]-subunit, and (3) both [alpha] and [beta] cDNAs. The latter two procedures amplified residual activity levels over that of patient samples, an effect not previously found with mutations affecting an [open quotes]active[close quotes] [alpha]Arg residue. This effect may help to discriminate between protein-folding and active-site mutations. The authors conclude that, with proper controls, the latter method of cotransfection can be used to evaluate the effects and perhaps to predict the clinical course of some [alpha]-chain mutations. Using this technique, they demonstrate that the adult-onset Tay-Sachs mutation, [alpha]Gly[yields]Ser[sup 269], does not directly affect [alpha][beta] dimerization but exerts an indirect effect on the dimer through destabilizing the folded [alpha]-subunit at physiological temperatures. Two other [alpha] mutations linked to more severe phenotypes appear to inhibit the initial folding of the subunit. 36 refs., 2 figs., 5 tabs.

  3. Diagnosis and management of von Willebrand disease: guidelines for primary care.

    Science.gov (United States)

    Yawn, Barbara; Nichols, William L; Rick, Margaret E

    2009-12-01

    Von Willebrand disease is an inherited condition characterized by deficiency of von Willebrand factor, which is essential in hemostasis. The National Heart, Lung, and Blood Institute has released new evidence-based guidelines for the diagnosis and management of the disease. There are three major subtypes of von Willebrand disease, classified as partial quantitative deficiency (low levels) of von Willebrand factor (type 1), qualitative deficiency (type 2), or virtually complete deficiency (type 3). Diagnosis is usually made by reviewing the patient's personal and family history of bleeding and by clinical evaluation for more common reasons for bleeding, supplemented with laboratory tests. Assessment may be used to determine bleeding risk before surgery and other invasive procedures, and to diagnose reasons for unexplained hemorrhaging. Von Willebrand factor levels of 30 IU per dL or lower are required for the definite diagnosis of inherited von Willebrand disease. Persons with levels of 30 to 50 IU per dL may not have the disease, but may need agents to increase von Willebrand factor levels during invasive procedures or childbirth. Treatment is tailored to the subtype of the disease: increasing plasma concentration of von Willebrand factor by releasing endogenous stores with desmopressin or replacing nonexistent or ineffective von Willebrand factor by using human plasma-derived, viral-inactivated concentrates; treatment is often combined with hemostatic agents that have mechanisms other than increasing von Willebrand factor. Regular prophylaxis is seldom required, and treatment is initiated before planned invasive procedures or in response to bleeding.

  4. DIE SPRACHE VON "BAŠĆANSKA PLOČA" (DIE STEINTAFEL VON BAŠKA

    Directory of Open Access Journals (Sweden)

    Stjepan Damjanović

    1990-01-01

    Full Text Available In einer Mehrzahl von Abhandlungen über Bašćanska ploča berücksichtigen die Verfasser auch die Sprache, in der Regel kurz, nur in einem oder zwei Sätzen. Die größten Bemühungen sind auf die Rekonstruirung der unlesbaren Teilen gerichtet, dagegen nicht weinger interessanter lesbarer Teil regte eine Sprachanalyse selten an. Gewöhnlich wird festgestellt, daß die Tafel in der kroatischen Sprache geschrieben ist, während die philologisch gut unterrichtete Forscher vermeiden diesartige Nenunngen, indem sie das Vorhandensein der altslawischen und altkroatischen Sprachelemente entdeckten. Man versuchte noch nicht in einer Analyse sprachliche Grundschichte und darauf geschichtete Sprachelemente zu bestimmen. Nach dem ersten Eindruck wurde bestimmt, ob es sich um "die kroatische Srpache mit den Elementen der alten slawischen liturgischen Sprache" handelt oder um "die altslawische in der manche kroatische Spracheigenschaften hereingekommen sind". Die Analyse mancher Spracheinzelheiten (Halblaute und "Jat" weist auf altslawische Grundschicht hin. Der Verfasser hat sich trotzdem nicht entschieden den Fachausdruck "kroatische Redaktion des altslawischen" zu verwenden, weil er neue Analyse und neue Begriffsbestimmungen als nötig hält, wie z.B. "Redaktion", "Rezension" usw, um mit Sicherkeit sagen zu können, ob es um kroatische Redaktion des altslawischen oder um andere Formen der altslawischen - alt kroatischen Interferenz geht.

  5. Digitale Rekonstruktion von historischem Bibliotheksgut. Projektvorstellung Leibniz-Fragmente und Massendigitalisierung von Flachware

    Directory of Open Access Journals (Sweden)

    Matthias Wehry

    2017-12-01

    Full Text Available Der Universalgelehrte Gottfried Wilhelm Leibniz verwendete eine besondere Form der Wissensordnung: Teile seiner Manuskripte und Arbeitspapiere, z.B. Abschriften und Exzerpte, wurden von ihm zerschnitten und in einem so genannten „Zettel-Schrancken“, einem großen Zettelkasten, geordnet. Im vorgestellten Projekt wurde ein automatisiertes virtuelles Assistenzsystem erarbeitet, um die ursprünglichen Zusammenhänge der Notata im Augenblick ihrer Entstehung wiederherzustellen. Das Ergebnis des Projektes ist ein innovatives Massenverfahren zum Puzzeln und Scannen historischer handschriftlicher Dokumente. The polymath Gottfried Wilhelm Leibniz used a specific technique for knowledge organisation: He cut parts of his manuscripts and working papers, e.g., copies and excerpts, in pieces and filed them systematically in a so called “Zettel-Schrancken”, a hugh slipbox. In the project presented in this paper, an automated virtual reconstruction of the notes’ initial context at the moment of origin was developed. The result of the project is an innovative mass processing method for puzzling and scanning historical handwritten documents

  6. Alternative Regulierungsansätze im Kontext der Better Regulation Agenda : eine Analyse von Konzepten, Potenzialen und Erfolgsfaktoren von Regulierung im Schatten staatlicher Hierarchie

    OpenAIRE

    Denker, Philipp

    2008-01-01

    Der vorliegende Beitrag untersucht das Potential und die Bedingungen alternativer Regulierungsformen vor dem Hintergrund von Better Regulation in Deutschland. Nahezu alle EU- und OECD-Staaten betreiben heute umfassende politische Reformprogramme zur Modernisierung der Regulierungsarchitekturen, die unter dem Label Better Regulation subsumiert werden. Die Zielsetzung dieser Programme besteht zum einen in der wirtschaftsfreundlichen Reduktion von Regulierungskosten und zum anderen in der Effekt...

  7. DEEP VEIN THROMBOSIS IN PATIENT WITH VON WILLEBRAND DISEASE

    Directory of Open Access Journals (Sweden)

    V. A. Elykomov

    2016-01-01

    Full Text Available Objective: to identify the possible factors of thrombogenic risk and ways of its prevention in patients with von Willebrand disease.Case description. Patient X., 42 years old, who suffers from von Willebrand disease type 3 with 5-years of age. Asked on reception to the traumatologist in the polyclinic of the Regional Hospital with pain in the left hip joint. Recommended planned operative treatment in the Altai Regional Clinical Hospital. Preoperative preparation included the infusion of concentrate of von Willebrand factor and coagulation factor VIII. Operation – cement total arthroplasty of the left hip joint. In the postoperative period analgesic treatment, elastic compression of the lower extremities, iron supplements, also conducted infusion of concentrate of von Willebrand factor and coagulation factor VIII for 20 days and thromboprophylactic with dabigatran. On the 3rd day after the operation the patient revealed deep vein thrombosis of the femoral segment (floating clot.Results. The patient was operated for emergency indications in the Department of endovascular surgery – installation of venous cava filter “Volan”. Dabigatran is cancelled, appointed clexane for 3 months. In our clinical example the patient lacked risk factors of pulmonary embolism as obesity, age, smoking, prolonged immobilization, estrogen therapy. Overdose of factor VIII were not observed – the level of factor did not exceed 135 % on transfusions. At the same time, the patient was found polymorphisms in the genes ITGA2, FGB, MTHFR, MTR – heterozygote, MTRR – mutant homozygote, which may indicate the genetic factors of thrombogenic risk. Also a significant risk factor was massive surgical intervention (total hip replacement. Despite preventive measures (elastic compression, thromboprophylactic dabigatran, early activation we cannot to avoid thrombotic complications.Conclusion. This article presents a case demonstrating a thrombotic complication in patients

  8. Rezension von: Gabriele Dietze: Weiße Frauen in Bewegung. Genealogien und Konkurrenzen von Race- und Genderpolitiken. Bielefeld: transcript Verlag 2013.

    Directory of Open Access Journals (Sweden)

    Philipp Dorestal

    2014-03-01

    Full Text Available Gabriele Dietze zeichnet das Verhältnis der Kategorien Race und Gender innerhalb der US-amerikanischen Geschichte von der Mitte des 19. Jahrhunderts bis zur Präsidentschaftswahl von Barack Obama nach. Dabei demonstriert sie anhand von zentralen Figuren der weißen Frauenbewegung deren ambivalente Positionen, die oftmals für progressive Inhalte wie das Eintreten für Frauenrechte stehen, gleichzeitig aber dann Anliegen von African Americans nicht artikulieren oder gar zum Schweigen bringen. Ebenso zeigt Dietze mithilfe von Texten einiger schwarzer Autor_innen sowie anhand berühmter Gerichtsprozesse, dass schwarze Emanzipation nicht notwendigerweise mit feministischen Positionen einhergehen musste, sondern sich vielmehr eine Konkurrenzsituation zwischen Race und Gender entspann.

  9. The von Auwers reaction - history and synthetic applications.

    Science.gov (United States)

    Dumeunier, Raphaël; Jaeckh, Simon

    2014-01-01

    Dienones obtained from the facile dearomatization of phenols, can be further transformed to semi-benzenes prone to rearomatize in clean, but sometimes unexpected, fashion. Over a hundred years ago, K. von Auwers found that adding Grignards on dienones would lead spontaneously to subsequent dehydration and a novel aromatizing rearrangement. This reaction was ignored for 50 years before Melvin Newman re-investigated these findings, studied the mechanism, and developed variations on the same theme. Since then, despite the tremendous potential of the reactions, those studies were only rarely mentioned, before finally falling into oblivion. This review aims to provide the reader with a detailed history and comprehensive bibliography of the von Auwers rearrangement, some of its synthetic applications, and new unpublished material in the hope to open new perspectives on this forgotten reaction.

  10. Die Ordnung der Weltkulturen. Alexander von Humboldts Ansichten der Kultur

    Directory of Open Access Journals (Sweden)

    Ottmar Ette

    2004-10-01

    Full Text Available Article in German,Abstracts in English, German and Spanish. Focussing Alexander von Humboldt's Vues des Cordillères et Monumens des peuples indigènes de l'Amérique (1810 - 1813 in the context of his monumental work, this essay tries to highlight not only the creation of a new discourse on the Americas but, at the same time, the project(ion of a new order of world cultures. From a transregional perspective, Humboldt's aesthetically most radical book can be fully understood as a musée imaginaire of world cultures whose spatial, temporal, social, literary, frictional, architextual and cultural dimensions allow new insights in one of the most fascinating texts of the early 19th century. Alexander von Humboldt's Vues are creating a transmedial kaleidoscope within a fractal vision of the cultures of the world in the second period of accelerated globalization.

  11. Von Willebrand's disease in the German shepherd dog : clinical communication

    Directory of Open Access Journals (Sweden)

    R.G. Lobetti

    2000-07-01

    Full Text Available Two litters of Germanshepherd dogs were evaluated for a haemorrhagic tendency that was characterised by excessive bleeding from the umbilicus at birth, haemorrhage and haematoma formation at vaccination, excessive bruising, and lameness due to haemarthrosis. Platelet counts, clotting times and Von Willebrand's factor (VWF assays were assessed in all dogs. Factor VIII determination was performed in 1 puppy and its parents. Based on the clotting times and VWF assay, 6 puppies (4 male and 2 female showed type I Von Willebrand's disease (VWD, 5 (4 male and 1 female possible type II VWD, and 4 were unaffected. One puppy with possible type II VWD had very low factor VIII activity; its sire had a normal factor activity, whereas the dam was in the low-normal range. This article reports type I and possible type II VWD in 2 related litters of German shepherd dogs, the latter being rare in German shepherd dogs.

  12. Von eingebetteten Systemen zu Cyber-Physical Systems

    Science.gov (United States)

    Wedde, Rorst F.; Lehnhoff, Sebastian; Rehtanz, Christian; Krause, Olav

    Das Hauptanliegen des Papiers ist, ein Paradigma für Probleme mit neuartigen Integrationsanforderungen für Forschung und Entwicklung in verteilten eingebetteten Echtzeitsystemen zu motivieren und vorzustellen, nämlich den Begriff Cyber-Physical Systems. Bei einer in letzter Zeit stark zunehmenden Anzahl von Realzeitanwendungen können ohne die Berücksichtigung solcher Forderungen keine praktisch brauchbaren Lösungen erwartet werden. Einige Anwendungsfelder werden angesprochen. Im Einzelnen werden dann für Elektroautos, die mit erneuerbaren Energien betrieben werden sollen, einerseits die Management-, verteilte Verhandlungs- und Verteilungsprobleme der benötigten Energie in einem bottom-up Ansatz gelöst. Andererseits wird als Teil unserer Projektarbeit die Bereitstellung von Reserveenergie für den allgemeinen Bedarf durch Autobatterien vorgestellt. Es zeigt sich, dass dies effizienter und wesentlich kurzfristiger in unserem verteilten Vorgehen geschehen kann als in traditionellen Verfahren.

  13. A tribute to Ebba von Fersen Balzan 1957-2008

    OpenAIRE

    Lagana, Louis

    2008-01-01

    Ebba von Fersen Balzan first came to Malta in 1986. She was mostly fascinated by Maltese culture and as an artist she was particularly attracted to the intense light of the Maltese landscape, the colour of the Maltese stone and the megalithic temples. In 1989 she held her first exhibitions in Malta: the first exhibition, in aid of Alternattiva Demokratika, was held at the hotel Phoenicia and another followed at the Museum of Fine Arts in Valletta.

  14. Sonographic findings in the Cruveilhier-von Baumgarten syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pirschel, J

    1982-07-01

    Portal hypertension is the most common complication of cirrhosis of the liver and leads to a reversal of blood flow and re-opening of pre-formed portal-systemic collaterals. Amongst a variety of possible hepato-fugal collaterals, the Cruveilhier-von Baumgarten syndrome, consisting of the reopening of umbilical veins, is a rare variant. It has been possible to demonstrate this clearly by sonography in 18 patients.

  15. Baron von Zach's business relations with the Munich entrepreneur Joseph von Utzschneider (German Title: Geschäftsbeziehungen des Barons von Zach zu dem Münchner Unternehmer Joseph von Utzschneider)

    Science.gov (United States)

    Schneider, Ivo

    The relationship between the astronomer von Zach on the one side and the entrepreneur Joseph von Utzschneider and his partner Georg von Reichenbach on the other dates presumably from the year 1807 when Zach spent two months in Munich. Already in the same year Zach had ordered an instrument for himself and began to solicit business for the institute of Reichenbach, Utzschneider, and Liebherr, which was founded in 1804. One of the clients canvassed by Zach was the director of the observatory in Naples Zuccari. Zuccari had ordered the whole equipment for the new observatory from this institute in 1813. The instruments for Naples, which were completed in 1814, were sent accompanied by Reichenbach by land and sea to their destination where Reichenbach supervised their setup. At that time Reichenbach had separated from Utzschneider who kept the optical institute in Benediktbeuern with his new partner Joseph von Fraunhofer whereas Reichenbach became owner of the mathematical-mechanical institute in Munich. For personal and economical reasons Utzschneider began soon after to produce not only optical glass but also optical devices similar to those offered by Reichenbach. As soon as two institutes in Munich competed against each other on the market for sophisticated geodetical and astronomical instruments Zach sided with Utzschneider. Zach's main professional argument for this decision was that both competitors got the optical glass for their instruments from Utzschneider's optical institute in Benediktbeuern. This meant that Utzschneider had first choice and so the optical part of his instruments could be considered as better than that of Reichenbach`s instruments. Zach's role as an agent in Italy and France for the sale of products coming from Utzschneider's manufactories is highlighted by three of Zach's letters to Utzschneider from 1817 and 1818, two of which are reproduced here for the first time.

  16. 3D-Druck von Kunststoff-Medizinprodukten

    OpenAIRE

    Polzin, Christian; Seitz, Hermann

    2012-01-01

    Das Additive Manufacturing gewinnt im Bereich der Medizintechnik zur Herstellung von Prototypen bis hin zu Endprodukten zunehmend an Bedeutung. Ein großes Hemmnis stellen allerdings die relativ hohen Fertigungskosten dar. Hier bietet der verstärkte Einsatz der 3D-Drucktechnologie (3D Printing) ein erhebliches Potential zur Reduktion der Kosten. Aus dieser Motivation heraus wurde ein 3D-Druckverfahren zur Herstellung biokompatibler, sterilisierbarer Kunststoffmodelle entwickelt. Beim 3D-Druck-...

  17. Semiparametric Bernstein–von Mises for the error standard deviation

    OpenAIRE

    Jonge, de, R.; Zanten, van, J.H.

    2013-01-01

    We study Bayes procedures for nonparametric regression problems with Gaussian errors, giving conditions under which a Bernstein–von Mises result holds for the marginal posterior distribution of the error standard deviation. We apply our general results to show that a single Bayes procedure using a hierarchical spline-based prior on the regression function and an independent prior on the error variance, can simultaneously achieve adaptive, rate-optimal estimation of a smooth, multivariate regr...

  18. Von Willebrand's Disease in Two Families of Doberman Pinschers

    OpenAIRE

    Johnstone, I. B.; Crane, S.

    1981-01-01

    The history, clinical symptoms and laboratory results in two families of Doberman pinschers with von Willebrand's disease are described. The affected animals illustrate the rather nonspecific bleeding problems that may be encountered in mild and moderate forms of this disease. In both families a bleeding diathesis was suspected when one member of the family underwent surgery with serious postoperative bleeding complications. These cases illustrate the importance of a thorough presurgical hist...

  19. 96 Über die Morphosyntaktische Struktur von Nominalkomposita im ...

    African Journals Online (AJOL)

    Die Yorùbá-Sprache, die von mehr als 25 Millionen Menschen allein in Nigeria gesprochen wird (vgl. Weisser 2008:1), ist die. Sprache der Yorùbá. Sie wird neben anderen Sprachen hauptsächlich in Südwest-Nigeria und z.T. in Benin, Togo,. Brasilien und Kuba gesprochen. Sie ist eine isolierende. Tonsprache, die zum ...

  20. Von Krahl klaarib piraadina asju euroliidus / Andres Laasik

    Index Scriptorium Estoniae

    Laasik, Andres, 1960-2016

    2006-01-01

    Von Krahli Teatri selle hooaja eelviimane esietendus "Europiraadid" on 17. mail Düsseldorfis, koostöös Saksamaa teatrirühmaga Showcase Beat Le Mot. (Varem on tehtud sama teatrirühmaga koostöös "Piraadid", mida mängiti nii Eestis kui Saksamaal). Eesti poole pealt teevad kaasa Juhan Ulfsak, Taavi Eelmaa, Maarja Jakobson ja Rain Tolk. Sakslaste poole pealt on tegijad Nikola Duric, Thorsten Eibler, Dariusz Kostyra ja Veit Spengler

  1. Eisengehalt von Fleisch - Ermittlung des Eisengehalts im Fleisch verschiedener Tierarten

    OpenAIRE

    Westphal, Karsten; Klose, Ralf; Golze, Manfred

    2009-01-01

    Der Bericht beinhaltet Ergebnisse von Fleischuntersuchungen auf den Eisengehalt. Untersucht wurden 308 Schweinefleischproben und etwa 300 Fleischproben der Tierarten Rind, Bison, Auerochse, Büffel, Schaf, Ziege, Kaninchen, Wildschwein, Rehwild, Rotwild und Fasan. Die sächsischen Ergebnisse bestätigen Untersuchungen anderer Bundesländer und belegen den starken Rückgang des Eisengehaltes im Schweinefleisch. Er lag im Mittel bei 4,1 mg/kg Frischmasse (FM). Vor 30 Jahren lag der Eisengehalt...

  2. Fibrolipoma en un paciente con la enfermedad de Von Recklinghausen

    Directory of Open Access Journals (Sweden)

    Orlando L Rodríguez Calzadilla

    2000-08-01

    Full Text Available Se presenta el caso de un paciente, con antecedente de padecer de la enfermedad de Von Recklinghausen, el cual fue valorado y su conducta terapéutica fue diferida, por sospechar la presencia de un tumor neurofibromatoso. El paciente se remitió a la consulta externa de nuestro servicio y una vez concluido sus estudios, se realizó su tratamiento quirúrgco. El paciente no presentó complicaciones transoperatorias y posoperatorias; su estadía fue de 3 días. Anatomía patológica informó la presencia de un fibrolipoma (neoplasia mesodérmica. El control a los 3 años de operado mostró un paciente asintomático y sin recidiva local. En la literatura médica revisada no se informaron otros casos similares de pacientes con la presencia de un fibrolipoma en la enfermedad de Von Recklinghausen.The case of a patient who suffers from Von Recklinghausen´s disease is reported. The patient was evaluated and his therapeutic conduct was deferred because the presence of a neurofibromatous tumor was suspected. The patient was referred to the outpatient department of our service and once the studies were concluded, he underwent surgical treatment. The patient had no transoperative or postoperative complications. He stayed in hospital only 3 days. The Department of Pathological Anatomy reported the presence of a fibrolipoma (mesodermic neoplasia. 3 years later the patient proved to be asymptomatic and without local relapse. Similar cases of patients with a fibrolipoma in Von Recklinghausen´s disease are not reported in the reviewed medical literature.

  3. Osteoporose bei Spondylitis ankylosans - Einfluß von Lebensgewohnheiten

    Directory of Open Access Journals (Sweden)

    Aglas F

    2004-01-01

    Full Text Available Krankheitsbedingte Artefakte können bei der SpA (Spondylitis ankylosans; Mb. Bechterew die Sensitivität einer Knochendichtemessung im Lumbalbereich beeinträchtigen. Das bei dieser rheumatischen Erkrankung bekannte Osteoporoserisiko ist neben genetischen Faktoren und Entzündungsmechanismen auch von verschiedenen exogenen Einflüssen abhängig. An 47 SpA-Patienten wurde mittels DEXA eine vergleichende Knochendichtemessung (BMD an der Hüfte (Schenkelhals und Ward'sches Dreieck sowie im Bereich der Wirbelsäule (L1-L4 vorgenommen. Zusätzlich erfolgte eine Erhebung der Lebens-Ernährungsgewohnheiten der SpA-Patienten in bezug auf die BMD, um exogene Einflüsse erfassen zu können. Die Knochendichtemessungen ergaben an der LWS wesentlich häufiger eine BMD im Normbereich als am proximalen Femur. Besonders deutliche Unterschiede traten im höheren Lebensalter auf, bei dem aufgrund von Kalzifizierungsvorgängen und Syndesmophyten an der LWS fälschlicherweise eine Dichtezunahme vorgetäuscht wird. Es kann daher bei SpA empfohlen werden, die wesentlich sensitivere Dichtemessung am Schenkelhals durchzuführen. Die über einen Zeitraum von 3 Jahren beobachteten, signifikant erhöhten, medianen CRP-Spiegel zeigen, daß eine permanente Aktivierung von Entzündungsprozessen bei SpA auch einen negativen Faktor betreffend des Knochenmasseverlustes darstellt. Die Analyse der Lebensgewohnheiten ergab, daß SpA-Patienten mit normaler BMD ausnahmslos regelmäßig kalziumreiche Nahrungsmittel zu sich nehmen; bei verminderter BMD wurde in der Mehrheit ein fehlender Konsum an Milchprodukten beobachtet. Leider war auch mit abnehmender BMD eine Verminderung der bei SpA empfohlenen Bewegungsübungen festzustellen. Aufgrund der Resultate ergibt sich eine generelle Empfehlung zu regelmäßigen Bewegungsübungen plus Osteoporosediät bei allen Bechterew-Patienten.

  4. Deutsche Literatur von Frauen – Jetzt auch digital!

    Directory of Open Access Journals (Sweden)

    Corinna Heipcke

    2002-07-01

    Full Text Available Die Digitale Bibliothek hat eine CD-Rom ediert, auf der ein Querschnitt durch die Werke von Autorinnen aus vier Jahrhunderten enthalten ist. Die Volltexte sind integriert in ein Bearbeitungsprogramm, das quellentreues Zitieren und Volltextrecherchen ermöglicht. Damit ist ein ausgesprochen praktisches Hilfsmittel für Germanistinnen und Germanisten entstanden. An ihre Grenzen gelangt die Sammlung allerdings bei der nicht unproblematischen Textauswahl.

  5. Gender-Dynamiken in der Rekonstruktion von Bildungsprozessen in Medienprojekten

    Directory of Open Access Journals (Sweden)

    Barbara Stauber

    2007-11-01

    Full Text Available Dieser Beitrag basiert auf Erfahrungen aus einem aktuellen Praxisforschungsprojekt des tifs (Tübinger Institut für frauenpolitische Sozialforschung. Es wurde in Auftrag gegeben von der Landesstiftung Baden-Württemberg zur Evaluation ihres Programms «Jugend und verantwortungsvolle Mediennutzung», mit dem sie medienpädagogische Projekte in unterschiedlichen Jugendhilfe-Kontexten (Projekte der offenen und der verbandlichen Jugendarbeit, der Hilfen zur Erziehung, der Jugendberatung etc. förderte.

  6. Sonographic findings in the Cruveilhier-von Baumgarten syndrome

    International Nuclear Information System (INIS)

    Pirschel, J.

    1982-01-01

    Portal hypertension is the most common complication of cirrhosis of the liver and leads to a reversal of blood flow and re-opening of pre-formed portal-systemic collaterals. Amongst a variety of possible hepato-fugal collaterals, the Cruveilhier-von Baumgarten syndrome, consisting of the reopening of umbilical veins, is a rare variant. It has been possible to demonstrate this clearly by sonography in 18 patients. (orig.) [de

  7. Decision Utility Theory: Back to von Neumann, Morgenstern, and Markowitz

    OpenAIRE

    Kontek, Krzysztof

    2010-01-01

    Prospect Theory (1979) and its Cumulative version (1992) argue for probability weighting to explain lottery choices. Decision Utility Theory presents an alternative solution, which makes no use of this concept. The new theory distinguishes decision and perception utility, postulates a double S-shaped decision utility curve similar to one hypothesized by Markowitz (1952), and applies the expected decision utility value similarly to the theory by von Neumann and Morgenstern (1944). Decision Uti...

  8. Interpolatability distinguishes LOCC from separable von Neumann measurements

    International Nuclear Information System (INIS)

    Childs, Andrew M.; Leung, Debbie; Mančinska, Laura; Ozols, Maris

    2013-01-01

    Local operations with classical communication (LOCC) and separable operations are two classes of quantum operations that play key roles in the study of quantum entanglement. Separable operations are strictly more powerful than LOCC, but no simple explanation of this phenomenon is known. We show that, in the case of von Neumann measurements, the ability to interpolate measurements is an operational principle that sets apart LOCC and separable operations

  9. Johann Baptist von Schweitzer: the queer Marx loved to hate.

    Science.gov (United States)

    Kennedy, H

    1995-01-01

    Despite his conviction on a morals charge involving a boy, the early German Social Democrat Johann Baptist von Schweitzer went on to have a successful political career. His life furnishes the context to present remarks by his political opponents Marx and Engels, which reveal their deep-seated homophobia. It is pointed out that this has been glossed over by the translations of the recently published Marx/Engels Collected Works. Some remarks on boy-love and anarchism are appended.

  10. Von Neuman representations on self-dual Hilbert W* moduli

    International Nuclear Information System (INIS)

    Frank, M.

    1987-01-01

    Von Neumann algebras M of bounded operators on self-dual Hilbert W* moduli H possessing a cyclic-separating element x-bar in H are considered. The close relation of them to certain real subspaces of H is established. Under the supposition that the underlying W*-algebra is commutative, a Tomita-Takesaki type theorem is stated. The natural cone in H arising from the pair (M, x-bar) is investigated and its properties are obtained

  11. Põlvkondade triloogia Von Krahli teatris / Hedi-Liis Toome

    Index Scriptorium Estoniae

    Toome, Hedi-Liis

    2010-01-01

    Von Krahli teatri lavastustest: William Shakespeare "Kuningas Lear", mängib Viljandi Kultuuriakadeemia 8. lend, lavastaja Peeter Jalakas (esietendus 30. jaan. 2010); "The End" - autorid, lavastajad ja näitlejad: Mari Abel, Tiina Tauraite, Riina Maidre, Erki Laur, Taavi Eelmaa, Juhan Ulfsak (esietendus 19. märts 2010); "Mehed lumes" Peter Freucheni jutustuse "Olavi lugu" ainetel lavastanud Mart Koldits ja Kristjan Sarv, kes ka ise mängivad (17. aprill 2010)

  12. Kundenorientierte Produktentwicklung mit Hilfe von Quality Function Deployment (QFD)

    OpenAIRE

    Schloske, Alexander

    2011-01-01

    Die Produktentwicklung von heute muss in immer kürzeren Zeiträumen kunden- und kostenorientierte Produkte entwickeln. Zur systematischen Unterstützung dieser Aufgabe im Rahmen der Produktentwicklung wird die Methode Quality Function Deployment (QFD) eingesetzt. Die konsequente Umsetzung der Stimme des Kunden in die Sprache des Unternehmens gelingt mit Quality Function Deployment (QFD). Die Methode wertet systematisch Kundenanforderungen an Produkte aus und führt zu innovativen Lösungen, die s...

  13. Ein Beitrag zur Erweiterung von Beamforming-Methoden

    OpenAIRE

    Kern, Marcus

    2008-01-01

    Im automobilen Entwicklungsprozess haben sich akustische Messsysteme etabliert, die mit einer Anordnung von Mikrofonen, einer optischen Kamera und einer nachgeschalteten Signalverarbeitung die Schalleinfallsrichtung detektieren und dadurch die Schalldruckverteilung auf Quellorte im Fernfeld zurückrechnen und visualisieren können. Die Signalverarbeitung beruht i. A. auf dem Delay&Sum-Beamforming, deren Umsetzung im Zeit- oder Frequenzbereich erfolgt. Die Schwächen dieser Messtechnik bezüglich ...

  14. Inkrementelles und oberflächenkompositionales Parsen von Koordinationsellipsen

    OpenAIRE

    Kapfer, Jörg

    2011-01-01

    Die Bezeichnung Koordinationsellipse wird in Ermangelung einer besseren Alternative verwendet, auch wenn sie der Zielsetzung widerspricht, eine Alternative zu Ansätzen aufzuzeigen, die im elliptischen Konjunkt weggelassene Elemente postulieren und diese soweit zu rekonstruieren versuchen, dass für sämtliche Konjunkte die gleiche Struktur angenommen werden kann. Das inkrementelle Parsen ist insofern für eine oberflächenkompositionale Analyse von Koordinationsellipsen unerlässlich, als die Stru...

  15. Practical event analysis; Durchfuehrung von Ereignisanalysen in der Praxis

    Energy Technology Data Exchange (ETDEWEB)

    Scheuring, R. [Bayernwerk Kernenergie GmbH - Kernkraftwerk Grafenrheinfeld (Germany)

    1999-04-01

    The paper explains the systematic approaches and practical aspects of evaluation of NPP operating reports and implementation of identified remedial action for enhancing the safety in terms of human, organisational, and technology factors. The procedures adopted for the Grafenrheinfeld nuclear power station (KKG) serve as an example. (orig./CB) [German] Ein wichtiger Bestandteil zur Erhaltung und Fortentwicklung des Sicherheitsniveaus ist das Lernen aus der Erfahrung. Hierzu wiederum ist ein systematisches Vorgehen zur Vermeidung von Fehlern und Behebung von Schwachstellen menschlicher, technischer und organisatorischer Natur unabdingbare Voraussetzung. Die Anwendung einer umfassenden Auswertemethodik beinhaltet - die Erfassung und Informationsweitergabe externer und interner Vorkommnisse und Erfahrungen - eine systematische Analyse/Auswertung - eine konsequente Umsetzung der Abhilfemassnahmen unter Einbeziehen aller betroffenen Organisationseinheiten. Wie erfolgt die Umsetzung dieser Vorgaben in die Praxis? Im Kernkraftwerk Grafenrheinfeld (KKG) ist die Auswertung von externen und internen Betriebserfahrungen als Aufgabe im Betriebshandbuch (BHB) 'Personelle Betriebsorganisation' vorgegeben und im Detail im Sinne der Ablauforganisation im Qualitaetssicherungshandbuch in Qualitaetssicherungsanweisungen (QSA) beschrieben. (orig.)

  16. Qualification of package units; Qualifizierung von Package Units

    Energy Technology Data Exchange (ETDEWEB)

    Brombacher, M.; Walter, U. [Bayer AG, Leverkusen (Germany)

    1999-07-01

    The use of package units in pharmaceutical plants is increasing. If they are involved in the manufacture of pharmaceuticals and have an influence on the quality of the end product, the user is required to validate the processes used. Parallel to the growing demands with respect to the automation of these units, the importance of PCS equipment has increased and with this the necessity for its qualification. Experience to date shows that the manufacturer's awareness of these requirements can be heightened still further. This paper describes approaches for improving the present situation and should be interpreted not as criticism but as providing an opportunity to increase the knowledge base and work together to define solutions which satisfy the guidelines. (orig.) [German] Der Einsatz von Package Units in Pharma-Anlagen erfaehrt zunehmende Verbreitung. Wenn sie an der Herstellung von Arzneimitteln beteiligt sind und auf die Qualitaet des Endprodukts Einfluss nehmen, unterliegen sie der Validierungspflicht, die der Anwender zu gewaehrleisten hat. Entsprechend den wachsenden Anforderungen an die Automatisierung dieser Einheiten ist auch der Stellenwert der PLT-Ausruestung angestiegen und mit ihm die Notwendigkeit von deren Qualifizierung. Die bisherige Praxis zeigt, dass die Sensbilitaet der Hersteller diesen Anforderungen gegenueber noch besser entwickelt werden kann. Der Beitrag zeigt Wege auf, um die derzeitige Situation zu verbessern und sollte nicht als Kritik sondern als Chance aufgefasst werden, den Wissensstand auszugleichen und gemeinsam zu richtliniengerechten Loesungen zu kommen. (orig.)

  17. Acquired Von Willebrand’s Syndrome in Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Sara Taveras Alam

    2014-01-01

    Full Text Available Acquired von Willebrand syndrome (AVWS is an uncommon, underdiagnosed, and heterogeneous disease which is increasingly recognized as a cause of bleeding diatheses. Systemic lupus erythematosus (SLE is an infrequent cause of AVWS. Herein, we report a case of AVWS diagnosed during the initial presentation of SLE in a previously healthy young man with no family history of bleeding diathesis who presented with worsening epistaxis, gastrointestinal bleeding, and anasarca. He was found to have severe anemia and prolonged activated partial thromboplastin time (aPTT with severely decreased levels of von Willebrand factor (VWF measurements in addition to markedly decreased factor VIII levels. Further evaluation revealed nephrotic syndrome and interstitial lung disease due to SLE. He initially received combination therapy with intravenous immunoglobulin (IVIG and von Willebrand factor/factor VIII concentrates without significant improvement. Treatment with steroids, cyclophosphamide, and rituximab was followed by clinical improvement evidenced by cessation of bleeding. The short follow-up did not allow us to definitely prove the therapeutic effect of immunosuppressive treatment on AVWS in SLE patients. This case adds to the literature supporting the relationship between AVWS and SLE and highlights the importance of combination therapy in the treatment of severe AVWS as well as the role of IVIG, cyclophosphamide, and rituximab in AVWS associated with SLE.

  18. Compliance with periodic surveillance for Von-Hippel-Lindau disease.

    Science.gov (United States)

    Lammens, Chantal R M; Aaronson, Neil K; Hes, Frederik J; Links, Thera P; Zonnenberg, Bernard A; Lenders, Jacques W M; Majoor-Krakauer, Danielle; Van Os, Theo A M; Gomez-Garcia, Encarna B; de Herder, Wouter; van der Luijt, Rob B; van den Ouweland, Ans M W; Van Hest, Liselot P; Verhoef, Senno; Bleiker, Eveline M A

    2011-06-01

    To assess compliance with a periodic surveillance regimen for Von Hippel-Lindau disease. In this nationwide study, Von Hippel-Lindau disease mutation carriers and those at 50% risk were invited to complete a questionnaire assessing (compliance with) advice given for periodic surveillance. Medical record data on compliance with recommended radiologic surveillance examinations were also collected. Of the 84 (77%) participants, 78 indicated having received advice to undergo periodic surveillance. Of these, 71 reported being fully compliant with that advice. In 64% of the cases, this advice was only partially consistent with published guidelines. Based on medical record data, between one quarter and one third of individuals did not undergo surveillance as recommended in the guidelines for central nervous system lesions and one half for visceral lesions. Screening delay for central nervous system lesions was significantly higher in one hospital and in those cases where "the advice given" deviated from the guidelines. The majority of those with or at risk of Von Hippel-Lindau disease reported having received and being fully compliant with screening advice. However, in many cases, the advice given was only partially consistent with published guidelines, and screening delays were observed. Efforts should be undertaken to stimulate guideline-based surveillance advice and to minimize screening delay.

  19. Prospektive, monozentrische, einarmige, randomisierte, kontrollierte Studie über fraktionierte CO₂-Lasertherapie von freien Hauttransplantaten

    OpenAIRE

    Schönberger, Carmen

    2017-01-01

    Hintergrund: Nach einer Hauttransplantation ist häufig das ästhetische Ergebnis aufgrund von Pigmentverschiebungen und Narben stark beeinträchtigt und wird von den Patienten als unbefriedigend betrachtet. Bisher gibt es keine prospektive, randomisierte, kontrollierte in vivo Studie, die die Wirksamkeit des fraktionierten CO2-Lasers zur Konturanpassung und Narbenkorrektur von Hauttransplantaten nachgewiesen hat. Da sich allerdings in der Vergangenheit in zahlreichen Studien der fraktionierte C...

  20. Ausbau der ganztägigen Kindertagesbetreuung kann zur Zufriedenheit von Müttern beitragen

    OpenAIRE

    Stahl, Juliane F.; Schober, Pia S.

    2016-01-01

    Eltern mit Kindern, die noch nicht zur Schule gehen, stehen bei der Vereinbarkeit von Familie und Beruf vor besonderen Herausforderungen. Um diese Eltern besser zu unterstützen, hat die Politik sowohl den Ausbau von Plätzen in der öffentlichen Kindertagesbetreuung (Kita) forciert als auch ein bedarfsorientiertes Angebot an Ganztagsplätzen gesetzlich verankert. Der vorliegende Beitrag untersucht auf Basis von Daten des Sozio-oekonomischen Panels (SOEP) und der Stichprobe 'Familien in Deutschla...

  1. Physikalische Grundlagen von chemischen Raman-Sensoren mit Schwerpunkt auf faseroptischen SERS-Sonden

    OpenAIRE

    Viets, Carmen

    2001-01-01

    Faseroptische SERS-Sensoren wurden durch die Beschichtung der Endflächen von optischen Fasern mit rauhen Metallfilmen erzeugt. Zu den verschiedenen Präparationstechniken, die angewendet und verglichen wurden, gehörten das langsame Aufdampfen von Metall-Inselfilmen und das Bedampfen von Nanopartikeln, aufgerauhten oder elektronenlithographisch strukturierten Oberflächen mit Metallfilmen. Der Einfluß der Laserleistung auf die Messungen mit SERS-Sensoren wurde untersucht, und es wurden maximale ...

  2. On the problem of completeness of QM: von Neumann against Einstein, Podolsky, and Rosen

    OpenAIRE

    Khrennikov, Andrei

    2008-01-01

    We performed a comparative analysis of the arguments of Einstein, Podolsky and Rosen -- EPR, 1935 (against the completeness of QM) and the theoretical formalism of QM (due to von Neumann, 1932). We found that the EPR considerations do not match at all with the von Neumann's theory. Thus EPR did not criticize the real theoretical model of QM. The root of EPR's paradoxical conclusion on incompleteness of QM is the misuse of von Neumann's projection postulate. EPR applied this postulate to obser...

  3. Gesamtfahrzeugsimulation betriebsfestigkeitsrelevanter Manöver unter Berücksichtigung von Fahrwerkregelsystemen

    OpenAIRE

    Brandes, Sebastian Jürgen

    2016-01-01

    In der Automobilbranche dient im Bereich der betriebsfesten Bemessung des Fahrwerks die Methode der Mehrkörpersysteme als Analyseverfahren zur Ermittlung von Bewegungen und Schnittgrößen an den Fahrwerksbauteilen. Eine der aktuellen Herausforderungen hierbei ist der zunehmende interdisziplinäre Charakter in Form von mechatronischen Fahrwerkssystemen. In rein virtuellen Entwicklungsphasen kann deren Einfluss auf die Fahrwerksbelastungen einzig anhand von Gesamtfahrzeugsimulationen ermittelt we...

  4. Molekulargenetische Studie zur Verbreitung und Interaktion von PCV-2 bei Haus- und Wildschweinen

    OpenAIRE

    Bronnert, Bastian Balthasar Marcel

    2014-01-01

    Im Rahmen der vorliegenden Arbeit wurden Wild- und Hausschweingewebeproben aus den Jahren 2005 bis 2008 mittels nested PCR auf das Vorkommen von PCV-2 untersucht und die positiv getesteten Proben mittels Realtime PCR quantifiziert. Zusätzlich wurden die Proben im Institut für Pathologie der Justus-Liebig-Universität histologisch und immunhistologisch untersucht (Dissertation Hohloch). Ziel war es das Vorkommen von PCV-2 und die Häufigkeit von PCV-2 assoziierter Erkankungen bei Haus- und Wilds...

  5. Analyse kognitiver Benutzermodelle für die Evaluation von Mensch-Maschine-Systemen

    OpenAIRE

    Dzaack, Jeronimo

    2008-01-01

    Die Entwicklung und Gestaltung von Schnittstellen für Mensch-Maschine-Systeme erfordern, neben der Kenntnis der Aufgabe und der Arbeitsumgebung, auch eine Vorstellung über die kognitiven Anforderungen an zukünftige Benutzer. Ein Grund dafür liegt in der zunehmenden Informationsdichte und dem ansteigenden Automatisierungsgrad von technischen Systemen. Daraus ergibt sich die Frage, welche Art von Schnittstelle die kognitiven Prozesse bei der Interaktion am besten unterstützt und wie diese prosp...

  6. Die Bedeutung internationaler Erfahrungen für den Karriereerfolg von Führungskräften

    OpenAIRE

    Biemann, Torsten

    2009-01-01

    Die langfristigen Auswirkungen internationaler Einsätze von Führungskräften auf deren Karrieren sind bislang kaum empirisch untersucht worden und die wenigen vorliegenden Ergebnisse sind widersprüchlich. Ziel dieser Studie ist deshalb die empirische Untersuchung der Auswirkungen internationaler Erfahrungen auf den Karriereerfolg von Führungskräften anhand eines Vergleichs von Führungskräften mit und ohne internationale Erfahrungen. Es zeigt sich, dass internationale Erfahrungen zu einem höher...

  7. Entwicklung von Cysteinproteaseinhibitoren - ein klassischer und ein kombinatorischer Ansatz zur Inhibitoroptimierung

    OpenAIRE

    Machon, Uwe Rainer

    2009-01-01

    Ziel der Dissertation „Entwicklung von Cysteinproteaseinhibitoren – ein klassischer und ein kombinatorischer Ansatz zur Inhibitoroptimierung“ war die Optimierung von neuen Inhibitoren von Falcipain-2 und Rhodesain als neue potentielle Wirkstoffe gegen Malaria bzw. die Schlafkrankheit über zwei verschiedene Methoden. Es handelt sich hierbei um einen klassischen und einen kombinatorischen Ansatz. Der klassische Ansatz basiert auf einer Struktur, deren Aktivität per Zufall entdeckt wurde. In Scr...

  8. Description of scattering material behaviour and damage in inelastic materials; Beschreibung von streuendem Materialverhalten und von Schaedigung bei inelastischen Werkstoffen

    Energy Technology Data Exchange (ETDEWEB)

    Pensky, H.M.H.

    2000-07-01

    For realistic numerical simulations of the stress-strain behaviour of structures, models are necessary which describe elastic-inelastic and scattering material behaviour. The developed models simulate elastic, viscoplastic and anisotropic damage material phenomena. An approach is proposed for covering stochastic material beahviour by correspondingly distributed parameters of the deterministic material model. Numerical simulations of biaxial material tests and structural tests demonstrate the range of applicability. (orig.) [German] Die realitaetsnahe numerische Simulation des Spannungs-Verformungsverhaltens von Bauteilen erfordert Modelle zur Beschreibung inelastischen und streuenden Materialverhaltens. Die hier entwickelten Modelle beschreiben elastische, viskoplastische und anisotrope Schaedigungsphaenomene des Materialverhaltens. Desweiteren wird ein Konzept vorgestellt, mit dem streuendes Materialverhalten mit streuenden Materialparametersaetzen deterministischer Stoffmodelle beschreibbar ist. Numerische Simulationen von Werkstoff- und Bauteilversuchen veranschaulichen den Anwendungsbereich der Modelle. (orig.)

  9. Christian Enichlmayr, Leiter der Oberösterreichischen Landesbibliothek von 1999 bis 2015, beantwortet 10 Fragen von Bruno Bauer

    Directory of Open Access Journals (Sweden)

    Christian Enichlmayr

    2016-05-01

    Full Text Available Christian Enichlmayr beantwortet Fragen über seinen Start ins Berufsleben in der Verlagsbranche, seine Zeit an der Universitätsbibliothek Linz und seinen Wechsel an die Oberösterreichische Landesbibliothek. 1999 bis 2015 war er als deren Leiter auch in führender Position für die Transformation der Bundesstaatlichen Studienbibliothek zur Landesbibliothek sowie die Sanierung und Erweiterung des Bibliotheksgebäudes verantwortlich. Weitere Themen, die in den vergangenen 17 Jahren an der Landesbibliothek stark forciert wurden, erstrecken sich von der NS-Provenienzforschung über die Entwicklung der digitalen Landesbibliothek bis zur Stärkung der Rolle der Landesbibliothek im oberösterreichischen Kulturleben. Zuletzt spricht Enichlmayr über die Bedeutung von Kooperationen im Bibliothekswesen, die Ausrichtung des Bibliothekartages der Vereinigung Österreichischer Bibliothekarinnen und Bibliothekare 2004 in Linz sowie die Perspektive für Bibliotheken.

  10. August von Kotzebue estofiilina / Otto-Heinrich Elias ; saksa keelest tõlkinud Reet Bender

    Index Scriptorium Estoniae

    Elias, Otto-Heinrich, 1932-

    2011-01-01

    Tutvustatakse August von Kotzebue kirjanduslikku - ja draamaloomingut, tema rolli seadusreformide mõjutamisel ning eestlastest positiivse kujundi loomisel. Peatutakse ka tema reisil revolutsioonilisel Prantsusmaal

  11. Mesostrukturierung und chemische Modifikation von Kathodenmaterialien zur Anwendung in Lithium-Schwefel Batterien

    OpenAIRE

    Schneider, Artur

    2016-01-01

    Die vorliegende Dissertation beschäftigt sich mit der Strukturierung und Charakterisierung von Kohlenstoffmaterialien, ihrer chemischen Modifikation, sowie deren Einsatz als Kathodenmaterialien in Lithium-Schwefel Batterien.

  12. Ungleiche Ungleichheiten:Zu den Gemeinsamkeiten und Unterschieden von Sexismus und Rassismus

    OpenAIRE

    Späte, K. (Katrin)

    2011-01-01

    Sexismus durchzieht fast alle gesellschaftlichen Teilbereiche und deren Grundlagen, im Kern ging es schon Jahrtausende lang um die Rechtfertigung der Herrschaft von Männern über Frauen. Die Minderwertigkeit „der Frau“ wurde unter Rückgriff auf natürliche Begebenheiten bewiesen. Die Grundlage sowohl von Sexismus als auch von Rassismus ist eine Konstruktion: Beim Sexismus die des „weiblichen Geschlechts“, beim Rassismus die der „Rasse“. Während sich die Benennung des Objekts von Rassismus im...

  13. Einflüsse von Computer- und Mediennutzung auf die Persönlichkeitsentwicklung von Kindern und Jugendlichen

    OpenAIRE

    Süss, Daniel

    2007-01-01

    Kinder und Jugendliche entwickeln ihre Persönlichkeit in aktiver Auseinandersetzung mit Medien. Medienkompetenz ist zu einer Entwicklungsaufgabe geworden. Zugleich verändern die Medien die allgemeinen Sozialisationsprozesse wie die Integration in die Peergroup und die Ablösung von den Eltern. Medien können sowohl als Ressourcen wie auch als Risiken für die Entwicklung wirksam werden. Empirische Studien zeigen, dass Kinder einen immer reichhaltigeren Medienzugang haben und viel Zeit mit Bildsc...

  14. Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage

    OpenAIRE

    Lew, Raelia; Burnett, Leslie; Proos, Anné

    2011-01-01

    The Australasian Community Genetics Program provided a preconception screening for Tay-Sachs disease (TSD) to 4,105 Jewish high school students in Sydney and Melbourne over the 12-year period 1995–2007. By correlating the frequencies of mutant HEXA, MIM *606869 (gene map locus 15q23-q24) alleles with subjects’ nominated ethnicity (Ashkenazi/Sephardi/Mixed) and grandparental birthplaces, we established that Ashkenazi ethnicity is a better predictor of TSD carrier status than grandparental ance...

  15. KRISENZUSTÄNDE UND ANWENDUNG VON ZWANGSMASSNAHMEN IN DER PSYCHIATRIE

    Directory of Open Access Journals (Sweden)

    Vesna Šendula Jengić

    2017-01-01

    Full Text Available In der Arbeit wird über die Phänomene der Aggressivität und Gewalt bei Menschen diskutiert, wobei man besonderen Wert auf die Personen mit seelischen Störungen legt. Krisenzustände und Gewaltverhalten gibt es nicht nur in der Psychiatrie. Es kann immer zu einem solchem Zustand und Verhalten kommen und jeder kann unter bestimmten Umständen sowohl Opfer als auch Täter sein. Multikausalität und Komplexität sowie auch individuelle Umstände und situationsbezogene Faktoren, welche zum Gewaltverhalten führen können, haben nur geringen Prognosekraft. Statistische Indikatoren andererseits können falsch positive und falsch negative Ergebnisse verbergen, wobei ein Fehler in der Einschätzung das Risiko zum Erscheinen eines Verhaltens drastisch erhöhen oder zum unrechtfertigten Entziehung der Freiheit führen kann. Zwangsmaβnahmen in der Psychiatrie sind nur ausnahmsweise anzuwenden, und zwar, wenn ein gefährliches Verhalten direkt das Leben und die Gesundheit einer Person oder einer Umgebung gefährdet. Darüber hinaus ist die Dauer von Zwangsmaβnahmen auch beschränkt. Die Gesetzesregulative, insbesondere das Gesetz über den Schutz von Personen mit seelischen Störungen (Amtsblatt der Republik Kroatien Nr. 76/2014 und die Ordnung über die Arten und die Weise der Anwendung von Zwangsmaβnahmen gegenüber den Personen mit schwierigen seelischen Störungen (Amtsblatt der Republik Kroatien Nr. 16/2015, dient als zusätzlicher Schutz der Rechte dieser Patientengruppe und schreibt die Arten und die Weise der Anwendung von Zwangsmaβnahmen sowie auch die Vorgehensweise. Zusätzliche Richtlinien und Vorgehensstrategien wurden auch von den Gesellschaften für Psychiatrie gegeben. In der Arbeit wird betont, dass bessere Bedingungen, Infrastruktur und Arbeitskräfte sowie auch ständige Entwicklung und Bewertung der Arbeitsqualität in der Psychiatrie erforderlich sind. Abschlieβend werden Standards und ethische Fragen in Betracht gezogen, wie

  16. Von Willebrand's disease: case report and review of literature.

    Science.gov (United States)

    Echahdi, Hanae; El Hasbaoui, Brahim; El Khorassani, Mohamed; Agadr, Aomar; Khattab, Mohamed

    2017-01-01

    Von Willebrand Disease (VWD) is the most common human inherited bleeding disorder due to a defect of Von Willebrand Factor (VWF), which a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50IU/dL). Von willebrand factor is a complex multimeric protein with two functions: it forms a bridge between the platelets and areas of vascular damage and it binds to and stabilizes factor VIII, which is necessary for the clotting cascade. By taking a clinical history of bleeding (mucocutaneous bleeding symptoms suggestive of a primary haemostatic disorder, a quantitative or qualitative abnormality of VWF is possible) it is important to think about VWD and to make the appropriate diagnosis. If the VWD is suspected diagnostic tests should include an activated partial thromboplastin time, bleeding time, factor VIII: C Ristocetin cofactor and vWF antigen. Additional testing of ristocetin induced plattlet adhesion (RIPA) the multimeric structure and collagen binding test and genanalysis allow diagnosing the different types of von. Willebrand Disease. The treatment of choice in mild forms is the synthetic agent desmopressin. In patients with severe type 1, type 2B, 2N and type 3 or in people who do not response to desmopressin, the appropriate treatment is a factor VIII concentrate that is rich of VWF. We report a case of infant in 27-month-old boy who had been referred due to haemorrhagic shock. His birth histories, his familie's social history and developmental milestones were unremarkable. He was born at full term with no antenatal or perinatal complications. Prior to

  17. Interpretation of ultrasonic images; Interpretation von Ultraschall-Abbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Mueller, W; Schmitz, V; Kroening, M [Fraunhofer-Institut fuer Zerstoerungsfreie Pruefverfahren, Saarbruecken (Germany)

    1998-11-01

    During the evaluation of ultrasonic images, e.g. SAFT-reconstructed B-scan images (SAFT=Synthetic Aperture Focusing Technique) it is often difficult to decide, what is the origin of reconstructed image points: were they caused by defects, specimens geometry or mode-conversions. To facilitate this evaluation a tool based on the comparison of data was developed. Different kinds of data comparison are possible: identification of that RF-signals, which caused the reconstructed image point. This is the comparison of a reconstructed image with the corresponding RF-data. Comparison of two reconstructed images performing a superposition using logical operators. In this case e.g. the reconstruction of an unknown reflector is compared with that of a known one. Comparison of raw-RF-data by simultaneous scanning through two data sets. Here the echoes of an unknown reflector are compared with the echoes of a known one. The necessary datasets of known reflectors may be generated experimentally on reference reflectors or modelled. The aim is the identification of the reflector type, e.g. cracklike or not, the determination of position, size and orientation as well as the identification of accompanying satellite echoes. The interpretation of the SAFT-reconstructed B-scan image is carried out by a complete description of the reflector. In addition to the aim of interpretation the tool described is well suited to educate and train ultrasonic testers. (orig./MM) [Deutsch] Bei der Auswertung von Ultraschall-Abbildungen, z.B. SAFT-rekonstruierten B-Bildern (SAFT=Synthetische Apertur Fokus Technik), ist es oft schwierig zu entscheiden, wo rekonstruierte Bildpunkte herruehren: wurden sie durch Materialfehler, Bauteilgeometrie oder durch Wellenumwandlungen versursacht. Um diese Auswertung zu erleichtern, wurde ein Werkzeug entwickelt, welches auf dem Vergleich von Datensaetzen basiert. Es koennen verschiedene Arten des Datenvergleichs durchgefuehrt werden: Identifikation der HF

  18. Photosynthesis: From De Saussure To Liebig.

    Science.gov (United States)

    Pennazio, Sergio

    2017-01-01

    The dawn of photosynthesis, characterized by the research of Priestley, Ingen- Housz and Senebier, culminated in 1804 with a historical essay of Théodore De Saussure. According to the historians, during the first half of the nineteenth century in which the genesis of the cell theory started off, the research on photosynthesis met a phase of stagnation. Indeed, the literature review of the period does not report particular innovation; however, several scientists (botanists, physiologists, and chemists) supported the thesis of De Saussure with a series of analyses that, in our opinion, deserve to be known. Mirbel, De Candolle, Raspail, Berzelius, Payen, Dutrochet, von Mohl, and other scholars attempted to expand knowledge on photosynthesis but were not able to arrive at a theory that was consistent with a functional mechanism, nor with a suitable chemical model to explain the transformation of the water and carbon dioxide into sugars. A classic case of such inadequacy concerns the discovery of chlorophyll. This compound, isolated in 1818 by Pelletier and Caventou, remained an enigma for many years and was never put in relation with the synthesis of starch. The accurate research of von Mohl led this scientist to believe that the granules of chlorophyll were entirely independent of starch granules, although in many cases these latter were observable inside the granules of chlorophyll. Only in the early forties, Justus von Liebig realized that the assimilation of carbon and hydrogen required a series of chemical reactions that, starting from some organic acids, ended in the formation of sugar. In conclusion, our analysis does not lead to define this period as stagnation but rather as transition, in which the concept of photosynthesis was clear, even though difficult to treat under physiological and chemical views. From the sixties, the researches of Julius von Sachs will open a new road, thanks also to the research carried out in the transition period. Copyright:

  19. Auftreten von Falschem Mehltau bei Gartenkresse (Lepidium sativum L. in der Saatgutvermehrung – Evaluierung von Saatgutbehandlung und Wachstumsbedingungen in einem Gefäßversuch

    Directory of Open Access Journals (Sweden)

    Zeller, Stefanie

    2014-09-01

    Full Text Available Die zur Familie der Brassicaceae gehörende Gartenkresse wird in Deutschland überwiegend im biologischen Anbau vermehrt. Seit einigen Jahren werden diese Gartenkressebestände von Erregern des Falschen Mehltaus (Hyaloperonospora parasitica, Perofascia lepidii befallen, was zu einem Totalausfall des Pflanzenbestandes führen kann. Daher ist die biologische Saatgutproduktion von Gartenkresse gefährdet, was eine Beeinträchtigung der Saatgutversorgung für die Keimsprossenerzeugung zur Folge hat. In den laufenden Untersuchungen wird der Einfluss von nicht chemischen Saatgutbehandlungsmaßnahmen (Wasserdampf, Elektronen, sowie Wachstumsbedingungen (Feuchte, Boden auf die Infektion mit Falschem Mehltau untersucht.

  20. The need for company information manuals - Benefits of industry-wide standard solutions; Notwendigkeit von Betriebshandbuechern - Vorteile von Branchen-Standardloesungen

    Energy Technology Data Exchange (ETDEWEB)

    Sporleder, R.; Winter, G. [Stadtwerke Rostock AG (Germany)

    2000-07-01

    The paper explains the need for and the usefulness of company information manuals for companies of the energy sector. (orig./CB) [German] Im folgenden wird anhand von Kernsaetzen die Notwendigkeit von Betriebshandbuechern begruendet. Es wird offensichtlich, dass Geschaeftsfuehrungen von sicherheitsrelevanten Unternehmen wohlberaten sind, die in verschiedenen Vorschriften geforderte betriebliche Umsetzung des Inhalts dieser Vorschriften auf die firmeninternen Organisationsstrukturen vorzunehmen. Diese Umsetzung hilft intern, die betrieblichen Verantwortlichkeiten festzulegen, Verfahrensablaeufe zu bestimmen und erhoeht im Schadensfall erheblich die Chance fuer die jeweilige Geschaeftsfuehrung, den strafrechtlichen Vorwurf des Organisationsverschuldens abzuwehren. (orig./CB)