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Sample records for mikro-pulverspritzgiessen von wolfram

  1. Interview with Herwig Wolfram

    Directory of Open Access Journals (Sweden)

    Giuseppe Albertoni

    2008-12-01

    Full Text Available The first part of the interview deals with the education of Herwig Wolfram in Wien and Los Angeles (one year and the relationship with the scholars who influenced him more (H. von Fichtenau, G.B. Ladner, the identification of the study of kingship and the choice of combining constantly the historical with the philological method. The interview then turns to the encounter with R. Wenskus and the theory of the ethnogenesis and the impact of this encounter on the studies of Wolfram and ultimately on the “Viennese” scholars. Another part is devoted to the book on the Goths and to the developments of the "Wien school" in relation to the study of early medieval peoples of Europe and to participation in international debate, very vibrant, on the subject. Also taken into consideration the themes of kingship, the local history, the "auxiliary disciplines" and historiographical communication and finally how research in organized and evaluated in Austria.

  2. Characterization of graded iron / tungsten layers for the first wall of fusion reactors; Charakterisierung gradierter Eisen/Wolfram-Schichten fuer die erste Wand von Fusionsreaktoren

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    Heuer, Simon

    2017-07-01

    Energiequelle bislang eine Herausforderung dar. Insbesondere fuehren hohe thermische Lasten und Neutronen-induzierte Schaedigung zu extremen Anforderungen an die Materialauswahl fuer Plasma-zugewandte Komponenten (PFCs). Diese sind daher nach derzeitigem Verstaendnis aus einer Wolfram-Schutzschicht, welche an eine Struktur aus niedrig aktivierbarem ferritisch-martensitischen (RAFM) Stahl gefuegt wird, zu fertigen. Aufgrund des diskreten Uebergangs von Materialeigenschaften an der RAFM-W-Fuegezone sowie thermischer Lasten, entstehen hier makroskopische Spannungen und plastische Dehnungen. Ein gangbarer Weg, diese zu reduzieren, stellt die Implementierung einer Zwischenschicht mit gradiertem RAFM/W-Verhaeltnis, einem s.g. funktional gradiertem Material (FGM), in der Fuegezone dar. In der vorliegenden Arbeit werden Makrospannungen und -dehnungen in der ersten Wand des Fusionsreaktors DEMO mittels einer Finite Elemente Simulation untersucht und bewertet. In diesem Rahmen werden Modell-Komponenten mit und ohne gradierter Zwischenschicht beruecksichtigt und der Vorzug eines FGM herausgestellt. Parameterstudien dienen einer konstruktiven Richtlinie fuer die strukturelle Umsetzung von FGMs und Komponenten der ersten Wand. Es wird ausserdem die Machbarkeit von vier Methoden (Magnetron Sputtering, Fluessigphaseninfiltration, modifiziertes atmosphaerisches Plasmaspritzen und Electro Discharge Sintering) hinsichtlich der Herstellung von FGMs studiert. Die entstehenden Schichten werden mikrostrukturell, thermo-physikalisch und mechanisch detailliert untersucht. Auf Grundlage dieser Charakterisierung und der Finite Elemente Simulation wird ihre Eignung als gradierte Schicht in der ersten Wand von DEMO evaluiert und schliesslich mit alternativen Fuegesystemen, die derzeit im Forschungsumfeld erprobt werden, verglichen.

  3. DIDMOAD (Wolfram Syndrome

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    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  4. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  5. Wolfram Syndrome. Case report.

    Science.gov (United States)

    Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

    2016-01-01

    Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

  6. [Familial Wolfram syndrome].

    Science.gov (United States)

    Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

    2014-11-01

    Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  7. Wolfram syndrome: case report

    OpenAIRE

    Fontes, Bruno Machado; Chen, Jane; Príncipe, André Hasler; Sallum, Juliana M. Ferraz; Chicani, Carlos Filipe

    2004-01-01

    A síndrome de Wolfram consiste na associação de diabetes mellitus e atrofia óptica. Outros achados comuns são surdez neurossensorial, alterações do trato urinário e distúrbios neurológicos. Tem padrão de herança autossômico recessivo com penetrância incompleta e expressividade variável. O objetivo deste relato é apresentar paciente que apresenta todas as características da síndrome de Wolfram (ou síndrome DIDMOAD). JFP, negro, 23 anos, apresenta diabetes mellitus e insipidus, atrofia óptica, ...

  8. Atypical presentations of Wolframs syndrome

    Directory of Open Access Journals (Sweden)

    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  9. Wolfram syndrome: MAMs' connection?

    Science.gov (United States)

    Delprat, Benjamin; Maurice, Tangui; Delettre, Cécile

    2018-03-06

    Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms may be identified in some but not all patients. Prognosis is poor, with death occurring around 35 years of age. To date, no treatment is available. WS was first described as a mitochondriopathy. However, the localization of the protein on the endoplasmic reticulum (ER) membrane challenged this hypothesis. ER contacts mitochondria to ensure effective Ca 2+ transfer, lipids transfer, and apoptosis within stabilized and functionalized microdomains, termed "mitochondria-associated ER membranes" (MAMs). Two types of WS are characterized so far and Wolfram syndrome type 2 is due to mutation in CISD2, a protein mostly expressed in MAMs. The aim of the present review is to collect evidences showing that WS is indeed a mitochondriopathy, with established MAM dysfunction, and thus share commonalities with several neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis, as well as metabolic diseases, such as diabetes.

  10. Hearing impairment in genotyped Wolfram syndrome patients.

    NARCIS (Netherlands)

    Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.

    2008-01-01

    OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.

  11. Wolfram syndrome: a clinicopathologic correlation.

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    Hilson, Justin B; Merchant, Saumil N; Adams, Joe C; Joseph, Jeffrey T

    2009-09-01

    Wolfram syndrome or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a neurodegenerative disorder characterized by diabetes mellitus and optic atrophy as well as diabetes insipidus and deafness in many cases. We report the post-mortem neuropathologic findings of a patient with Wolfram syndrome and correlate them with his clinical presentation. In the hypothalamus, neurons in the paraventricular and supraoptic nuclei were markedly decreased and minimal neurohypophyseal tissue remained in the pituitary. The pontine base and inferior olivary nucleus showed gross shrinkage and neuron loss, while the cerebellum was relatively unaffected. The visual system had moderate to marked loss of retinal ganglion neurons, commensurate loss of myelinated axons in the optic nerve, chiasm and tract, and neuron loss in the lateral geniculate nucleus but preservation of the primary visual cortex. The patient's inner ear showed loss of the organ of Corti in the basal turn of the cochleae and mild focal atrophy of the stria vascularis. These findings correlated well with the patient's high-frequency hearing loss. The pathologic findings correlated closely with the patient's clinical symptoms and further support the concept of Wolfram syndrome as a neurodegenerative disorder. Our findings extend prior neuropathologic reports of Wolfram syndrome by providing contributions to our understanding of eye, inner ear and olivopontine pathology in this disease.

  12. Investigation of the local fracture toughness and the elastic-plastic fracture behavior of NiAl and tungsten by means of micro-cantilever tests; Untersuchung der lokalen Bruchzaehigkeit und des elastisch-plastischen Bruchverhaltens von NiAl und Wolfram mittels Mikrobiegebalkenversuchen

    Energy Technology Data Exchange (ETDEWEB)

    Ast, Johannes

    2016-07-01

    . This is linked to the thermally activated dislocation mobility which is more constrained in those samples. Investigations on plastically predeformed samples were performed in order to study the influence of the dislocation density on the fracture behavior. It was found that the fracture toughness was again not affected but that the predeformed samples failed at an earlier stage at lower J-integrals. This is due to the lower mobility of the dislocations emitted from the crack tip in consequence of the high amount of strain hardening and the higher flow stress in those samples. Experiments in ultrafine-grained tungsten revealed a fracture behavior which was more brittle than expected. A single grain at the crack front with its crystallographic orientation being prone to cleavage failure can decisively influence the fracture behavior at the micro scale. [German] Das Ziel dieser Arbeit war es, ein verbessertes Verstaendnis fuer die Groessenabhaengigkeit der Bruchzaehigkeit zu gewinnen. Hierfuer wurden mittels fokussierter Ionenstrahlen gekerbte Mikrobiegebalken in verschiedenen Groessen vom Submikrometerbereich bis hin zu einigen 10 μm in B2-NiAl und Wolfram praepariert. Diese beiden Materialien besitzen charakteristische Sproed-Duktil-Uebergange, die oberhalb der Raumtemperatur liegen. Dies erlaubte es, Bruchvorgaenge, welche von begrenzter plastischer Verformung um die Rissspitze begleitet werden, auf der Mikroskala zu untersuchen. Neue Methoden zur Beschreibung und Bestimmung des lokalen elastisch-plastischen Bruchverhaltens bzw. der Bruchzaehigkeit wurden hierfuer erarbeitet. Im Speziellen wurde das J-Integral-Konzept zur Ermittlung von Rissfortschritt ueber Steifigkeitsmessungen auf die Mikroskala uebertragen. Dies ermoeglichte eine praezise Analyse des fuer die Bruchzaehigkeit charakteristischen Uebergangs von Rissabstumpfung zu stabilem Rissfortschritt. Die Versuche an einkristallinem NiAl fuer die beiden untersuchten Risssysteme der harten und weichen Orientierung

  13. Wolfram Syndrome: Diagnosis, Management, and Treatment.

    Science.gov (United States)

    Urano, Fumihiko

    2016-01-01

    Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.

  14. A Case of Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Gholamali Naderian

    2010-01-01

    Full Text Available Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundus examination. The patient also had diabetes insipidus, neurosensory deafness, neurogenic bladder, polyuria and extra-residual voiding indicating atony of the urinary tract, combined with delayed sexual maturity. Conclusion: One should consider Wolfram syndrome in patients with juvenile onset diabetes mellitus and hearing loss. Ophthalmological examination may disclose optic atrophy; urologic examinations are vital in such patients.

  15. Element 74, the Wolfram Versus Tungsten Controversy

    Energy Technology Data Exchange (ETDEWEB)

    Holden,N.E.

    2008-08-11

    Two and a quarter centuries ago, a heavy mineral ore was found which was thought to contain a new chemical element called heavy stone (or tungsten in Swedish). A few years later, the metal was separated from its oxide and the new element (Z=74) was called wolfram. Over the years since that time, both the names wolfram and tungsten were attached to this element in various countries. Sixty years ago, IUPAC chose wolfram as the official name for the element. A few years later, under pressure from the press in the USA, the alternative name tungsten was also allowed by IUPAC. Now the original, official name 'wolfram' has been deleted by IUPAC as one of the two alternate names for the element. The history of this controversy is described here.

  16. MRI of Wolfram syndrome (DIDMOAD)

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    Galluzzi, P.; Filosomi, G.; Vallone, I.M.; Venturi, C. [Dept. of Neuroradiology, Policlinico ' ' Le Scotte' ' , Siena (Italy); Bardelli, A.M. [Dept. of Ophthalmological Sciences, Unit of Paediatric Ophthalmology, University of Siena (Italy)

    1999-10-01

    Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo. (orig.)

  17. MRI of Wolfram syndrome (DIDMOAD)

    International Nuclear Information System (INIS)

    Galluzzi, P.; Filosomi, G.; Vallone, I.M.; Venturi, C.; Bardelli, A.M.

    1999-01-01

    Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo. (orig.)

  18. Association of Wolfram syndrome with Fallot tetralogy in a girl.

    Science.gov (United States)

    Korkmaz, Hüseyin A; Demir, Korcan; Hazan, Filiz; Yıldız, Melek; Elmas, Özlem N; Özkan, Behzat

    2016-06-01

    Wolfram syndrome (DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a rare neurodegenerative disorder. Mutations of the WFS1 (wolframin) on chromosome 4 are responsible for the clinical manifestations in majority of patients with Wolfram syndrome. Wolfram syndrome is also accompanied by neurologic and psychiatric disorders, urodynamic abnormalities, restricted joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotrophic hypogonadism in males and diabetic microvascular disorders. There are very limited data in the literature regarding cardiac malformations associated in children with Wolfram syndrome. A 5-year-old girl with Wolfram syndrome and tetralogy of Fallot is presented herein. Sociedad Argentina de Pediatría.

  19. A case Report of Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2007-01-01

    Full Text Available Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness. It is a rare autosomal recessive disease with prevalence of one per 770,000. Natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive neurodegenerative disorder. Juvenile–onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome. In this report clinical features of a patient with DIDMOAD syndrome is presented. A 12 year old male presented with short standing diabetes mellitus and diabetes insipidus. Further investigations showed bilateral optic atrophy, mild hearing loss and short stature. His parents were relative and he is first case in his family.

  20. Radiological findings in Wolfram syndrome

    International Nuclear Information System (INIS)

    Hadidy, Azmy M.; Jarrah, Nadim S.; Al-Till, Maha I.; Ajlouni, Kamal M.; El-Shanti, Haten E.

    2004-01-01

    To determine the precise radiologic findings in Wolfram syndrome (WFS) patients using objective techniques in order to better define the reference population for the clinicl evaluation. 16 patients (6 males, 10 female) with WFS found in 4 families were included in this study.14 patients with WFS-2 came from 3 families while 2 patients with EFS-1 came from one family. All patients were studied at Jordan University Hospital, Amman,Jordan from January 2001 to January 2003 by definite radiologic techniques as part of a thorough clinical comprehesive assesment. These incclude intravenous urography, abdominal and pelvic ultrasonography, barium meal, upper gastrointestinal endoscopy and magnetic resonance imaging with and without contrasts to the brain and the pituitary glands.5 of the female ptients had a small uterus. Spina bifida was found in 7, hydronephrosis in 9 and hydroureter in 5 patiets. Peptic ulcer was detected in 10 out of 14 available patients and helicobacter pylori in 7 out of 16 patients. Atrophy was detected was detected in all brains, 9 brain stems, 12 cerebellums and 14 optic tracts of all patients. The size of pituitary glands was variable. The particular radiological assesment of the patients with WFS proved that, urinary tract dialtation was detected in WFS-1and WFS-2 patients though all WFS-2 patients.No significant radiologic difference was between patients with WFS-1 and WFS-2. (author)

  1. Hearing impairment in genotyped Wolfram syndrome patients.

    Science.gov (United States)

    Plantinga, Rutger F; Pennings, Ronald J E; Huygen, Patrick L M; Bruno, Rocco; Eller, Philipp; Barrett, Timothy G; Vialettes, Bernard; Paquis-Fluklinger, Veronique; Lombardo, Fortunato; Cremers, Cor W R J

    2008-07-01

    Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment. Pure tone threshold data of 23 Wolfram syndrome patients were used for cross-sectional analysis in subgroups (age less than 16 years or between 19 and 25 years, gender, and origin). All subgroups, with 1 exception, showed a fairly similar type of hearing impairment with, on average, thresholds of about 25 dB (range, 0 to 65 dB) at 0.25 to 1 kHz, gently sloping downward to about 60 dB (range, 25 to 95 dB) at 8 kHz. The subgroup of Dutch women, which was excluded from the calculations of the average hearing thresholds, showed a higher degree of hearing impairment. Only the latter subgroup showed progression; however, contrary to the previous longitudinal analysis, progression was not significant in the present cross-sectional analysis, presumably because of the high degree of cross-subject variability. This unique collection of audiometric data from genotyped Wolfram syndrome patients shows no substantial progression in sensorineural hearing impairment with advancing age, no relation to the types of WFS1 mutations identified, and, with exclusion of the subgroup of Dutch female patients, no significant sex-related differences.

  2. Diabetes and Neurodegeneration in Wolfram Syndrome

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    Rohayem, Julia; Ehlers, Christian; Wiedemann, Bärbel; Holl, Reinhard; Oexle, Konrad; Kordonouri, Olga; Salzano, Giuseppina; Meissner, Thomas; Burger, Walter; Schober, Edith; Huebner, Angela; Lee-Kirsch, Min Ae

    2011-01-01

    OBJECTIVE To describe the diabetes phenotype in Wolfram syndrome compared with type 1 diabetes, to investigate the effect of glycemic control on the neurodegenerative process, and to assess the genotype-phenotype correlation. RESEARCH DESIGN AND METHODS The clinical data of 50 patients with Wolfram syndrome-related diabetes (WSD) were reviewed and compared with the data of 24,164 patients with type 1 diabetes. Patients with a mean HbA1c during childhood and adolescence of ≤7.5 and >7.5% were compared with respect to the occurrence of additional Wolfram syndrome symptoms. The wolframin (WFS1) gene was screened for mutations in 39 patients. WFS1 genotypes were examined for correlation with age at onset of diabetes. RESULTS WSD was diagnosed earlier than type 1 diabetes (5.4 ± 3.8 vs. 7.9 ± 4.2 years; P diabetes (NS). Severe hypoglycemia occurred in 37 vs. 7.9% (P 7.5% (P = 0.031). Thirteen novel WSF1 mutations were identified. Predicted functional consequence of WFS1 mutations correlated with age at WSD onset (P = 0.028). CONCLUSIONS Endoplasmic reticulum stress–mediated decline of β-cells in WSD occurs earlier in life than autoimmune-mediated β-cell destruction in type 1 diabetes. This study establishes a role for WFS1 in determining the age at onset of diabetes in Wolfram syndrome and identifies glucose toxicity as an accelerating feature in the progression of disease. PMID:21602428

  3. A Case with Wolfram (DIDMOAD Syndrome

    Directory of Open Access Journals (Sweden)

    Bulent Altunoluk

    2012-09-01

    Full Text Available Wolfram syndrome, seen in 1/770000 of the population is an autosomal recessive dysmorphogenetical disease with unknown pathogenesis. It is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness, and also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade,diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade.We present a boy 14 years old who had been followed-up with the diagnosis of Wolfram syndrome in this article. He had been followed-up with juvenile-onset diabetes mellitus for 9 years. Physical and laboratory exam revealed neurogenic bladder, deafness and optic defect. We emphasize the importance of family screening regarding the early diagnosis of Wolfram syndrome in the other individuals of the family since the disease shows an autosomal recessive inheritance.

  4. Wolfram syndrome: Case report | Atipo-Tsiba | East African Medical ...

    African Journals Online (AJOL)

    The third type or Wolfram-like syndrome is autosomal dominant, differs from the first two by the late onset of optic atrophy and diabetes mellitus type 1 (after adolescence) and hearing impairment is not always present. We report the first documented case of Wolfram syndrome at the University Hospital of Brazzaville in a nine ...

  5. A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome

    OpenAIRE

    Lu, Simin; Kanekura, Kohsuke; Hara, Takashi; Mahadevan, Jana; Spears, Larry D.; Oslowski, Christine M.; Martinez, Rita; Yamazaki-Inoue, Mayu; Toyoda, Masashi; Neilson, Amber; Blanner, Patrick; Brown, Cris M.; Semenkovich, Clay F.; Marshall, Bess A.; Hershey, Tamara

    2014-01-01

    Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes and neurodegeneration, and is considered a prototype of human endoplasmic reticulum (ER) disease. Wolfram syndrome is caused by loss of function mutations of Wolfram syndrome 1 or Wolfram syndrome 2 genes, which encode transmembrane proteins localized to the ER. Despite its rarity, Wolfram syndrome represents the best human disease model currently available to identify drugs and biomarkers associated with E...

  6. The Synthesis And Characterization Of Wolfram Phthalocyanine For The Target Material Of High Specific Activity Radioisotope Wolfram - 188 (188W)

    International Nuclear Information System (INIS)

    Setiawan, Duyeh

    2000-01-01

    The application of 188 Re radioisotope separation on aluminia column through elution solution has increased significantly since the last two decades. The 188 Re radioisotope has been done fram 188 Re beta-decay through a neutron capture radiation on wolfram -186 target. In trhe column separation, high specific activity of 188 W radioisotope is required to get sufficient activity in small quality 188 W radioisotope has been carried out in this research. Wolfram-phthalocyanine compound was prepared by refluxing a mixture of wolfram trioxyde, (WO 3 ) and phthalonitrile, (C 8 H 4 N 2 ) at 250 o C for two hours. The synthesis of wolfram phthalocyanine is 70% purity yield, the product are green crystals, have a 193,0-193,8 o C melting points, and has a molecular formula C 3 2H 1 6 N8 WO 2 . The infra red spectrum of wolfram-phthalocyanine was the absorption band at 964,3 cm - 1 was due to the vibration of W=O bond of the wolfram dioxy-phthalocyanine. The x-ray diffraction of the wolfram dioxy-phthalocyanine was similar with molybdenum dioxy-phthalocyanine compound. This fact showed that the product was wolfram dioxy-phthalocyanine

  7. [Wolfram syndrome: clinical and genetic analysis in two sisters].

    Science.gov (United States)

    Conart, J-B; Maalouf, T; Jonveaux, P; Guerci, B; Angioi, K

    2011-10-01

    Wolfram syndrome is a severe genetic disorder defined by the association of diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. Two sisters complained of progressive visual loss. Fundus examination evidenced optic atrophy. Their past medical history revealed diabetes mellitus and deafness since childhood. The association of these symptoms made the diagnosis of Wolfram syndrome possible. It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father. Ophthalmologists should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  8. Síndrome de Wolfram: relato de caso Wolfram syndrome: case report

    Directory of Open Access Journals (Sweden)

    Bruno Machado Fontes

    2004-12-01

    Full Text Available A síndrome de Wolfram consiste na associação de diabetes mellitus e atrofia óptica. Outros achados comuns são surdez neurossensorial, alterações do trato urinário e distúrbios neurológicos. Tem padrão de herança autossômico recessivo com penetrância incompleta e expressividade variável. O objetivo deste relato é apresentar paciente que apresenta todas as características da síndrome de Wolfram (ou síndrome DIDMOAD. JFP, negro, 23 anos, apresenta diabetes mellitus e insipidus, atrofia óptica, surdez neurossensorial, polineuropatia periférica, neuropatia autonômica, bexiga neurogênica, dilatação do trato urinário, infecções repetidas do trato urinário e azoospermia. Os exames clínico-oftalmológico, retinografia, angiografia fluoresceínica, eletrorretinografia (ERG e potencial visual evocado (PVE mostram padrão de normalidade retiniana e de atrofia de nervos ópticos. A síndrome de Wolfram deve ser lembrada em casos de atrofia óptica associados a diabetes, poliúria, polidipsia ou a qualquer uma das alterações apresentadas.Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders. It is an autossomic recessive disease, with incomplete penetrance and variable expressivity. The aim of this case report is to describe a patient who presents all the characteristics of Wolfram syndrome (DIDMOAD syndrome. JFP, African - American, 23 years old, presents with diabetes mellitus and insipidus, optic atrophy, deafness, peripheral polyneuropathy, autonomic neuropathy, neurogenic bladder, urinary tract dilation with recurrent infections, and azoospermia. Clinical examination, retinography, fluorescein angiogram, eletroretinography (ERG and visual evocated potencial (VEP revealed no retinal disorders and bilateral optic atrophy. Wolfram syndrome must be remembered in cases of optic atrophy in association with diabetes

  9. Wolfram (DIDMOAD syndrome: A Case report

    Directory of Open Access Journals (Sweden)

    Abdullah Kürsat Cingü

    2009-01-01

    Full Text Available A 10 years old boy admitted to Ophthalmology Clinic with the complaint of low vision. His ophthalmologic examination showed decreased visual acuity as counting fingers from 2 meters in both eyes. Biomicroscopic examination of his both eyes was normal. Optic atrophy was apparent in his both eyes on fundoscopic examination. He has been followed with the diagnosis of diabetes mellitus type 1 for the last two years and had nocturnal enuresis. He was diagnosed as Wolfram (DIDMOAD syndrome based on the results of clinical and laboratory examinations. His medical management has been carried out carefully however he was no longer able to attend his school. His IQ was within normal ranges and he was referred to a school which educates visually disabled children. Wolfram syndrome can easily be diagnosed in outpatient clinics since it does not require a genetic analysis. Physicians should keep in mind this diagnosis during their daily practice and provide the best management to the patient by achieving interdisciplinary co-operation.

  10. Optic nerve histopathology in a case of Wolfram Syndrome

    DEFF Research Database (Denmark)

    Ross-Cisneros, Fred N; Pan, Billy X; Silva, Ruwan A

    2013-01-01

    Mitochondrial dysfunction in Wolfram Syndrome (WS) is controversial and optic neuropathy, a cardinal clinical manifestation, is poorly characterized. We here describe the histopathological features in postmortem retinas and optic nerves (ONs) from one patient with WS, testing the hypothesis...

  11. Molecular characterization of WFS1 in patients with Wolfram syndrome

    NARCIS (Netherlands)

    Van den Ouweland, JMW; Cryns, K; Pennings, RJE; Walraven, [No Value; Janssen, GMC; Maassen, JA; Veldhuijzen, BFE; Arntzenius, AB; Lindhout, D; Cremers, CWRJ; Van Camp, G; Dikkeschei, LD

    Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for

  12. Molecular characterization of WFS1 in patients with Wolfram syndrome.

    NARCIS (Netherlands)

    Ouweland, J.M.W. van den; Cryns, K.; Pennings, R.J.E.; Walraven, I.; Janssen, G.M.; Maassen, J.A.; Veldhuijzen, B.F.; Arntzenius, A.B.; Lindhout, D.; Cremers, C.W.R.J.; Camp, G. van; Dikkeschei, L.D.

    2003-01-01

    Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for

  13. Three cases of Wolfram syndrome with different clinical aspects.

    Science.gov (United States)

    Çamtosun, Emine; Şıklar, Zeynep; Kocaay, Pınar; Ceylaner, Serdar; Flanagan, Sarah E; Ellard, Sian; Berberoğlu, Merih

    2015-03-01

    Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.

  14. Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.

    Science.gov (United States)

    Lugar, Heather M; Koller, Jonathan M; Rutlin, Jerrel; Marshall, Bess A; Kanekura, Kohsuke; Urano, Fumihiko; Bischoff, Allison N; Shimony, Joshua S; Hershey, Tamara

    2016-02-18

    Wolfram syndrome is a rare autosomal recessive genetic disease characterized by insulin dependent diabetes and vision, hearing and brain abnormalities which generally emerge in childhood. Mutations in the WFS1 gene predispose cells to endoplasmic reticulum stress-mediated apoptosis and may induce myelin degradation in neuronal cell models. However, in vivo evidence of this phenomenon in humans is lacking. White matter microstructure and regional volumes were measured using magnetic resonance imaging in children and young adults with Wolfram syndrome (n = 21) and healthy and diabetic controls (n = 50). Wolfram patients had lower fractional anisotropy and higher radial diffusivity in major white matter tracts and lower volume in the basilar (ventral) pons, cerebellar white matter and visual cortex. Correlations were found between key brain findings and overall neurological symptoms. This pattern of findings suggests that reduction in myelin is a primary neuropathological feature of Wolfram syndrome. Endoplasmic reticulum stress-related dysfunction in Wolfram syndrome may interact with the development of myelin or promote degeneration of myelin during the progression of the disease. These measures may provide objective indices of Wolfram syndrome pathophysiology that will be useful in unraveling the underlying mechanisms and in testing the impact of treatments on the brain.

  15. Phenotypic characteristics of early Wolfram syndrome.

    Science.gov (United States)

    Marshall, Bess A; Permutt, M Alan; Paciorkowski, Alexander R; Hoekel, James; Karzon, Roanne; Wasson, Jon; Viehover, Amy; White, Neil H; Shimony, Joshua S; Manwaring, Linda; Austin, Paul; Hullar, Timothy E; Hershey, Tamara

    2013-04-27

    Wolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) protein wolframin, thought to be involved in the regulation of ER stress. This paper reports a cross section of data from the Washington University WFS Research Clinic, a longitudinal study to collect detailed phenotypic data on a group of young subjects in preparation for studies of therapeutic interventions. Eighteen subjects (ages 5.9-25.8, mean 14.2 years) with genetically confirmed WFS were identified through the Washington University International Wolfram Registry. Examinations included: general medical, neurologic, ophthalmologic, audiologic, vestibular, and urologic exams, cognitive testing and neuroimaging. Seventeen (94%) had diabetes mellitus with the average age of diabetes onset of 6.3 ± 3.5 years. Diabetes insipidus was diagnosed in 13 (72%) at an average age of 10.6 ± 3.3 years. Seventeen (94%) had optic disc pallor and defects in color vision, 14 (78%) had hearing loss and 13 (72%) had olfactory defects, eight (44%) had impaired vibration sensation. Enuresis was reported by four (22%) and nocturia by three (17%). Of the 11 tested for bladder emptying, five (45%) had elevated post-void residual bladder volume. WFS causes multiple endocrine and neurologic deficits detectable on exam, even early in the course of the disease. Defects in olfaction have been underappreciated. The proposed mechanism of these deficits in WFS is ER stress-induced damage to neuronal and hormone-producing cells. This group of subjects with detailed clinical phenotyping provides a pool for testing proposed treatments for ER stress. Longitudinal follow-up is necessary for establishing the natural history and identifying potential biomarkers of progression.

  16. Tungsten or Wolfram: Friend or Foe?

    Science.gov (United States)

    Zoroddu, Maria A; Medici, Serenella; Peana, Massimiliano; Nurchi, Valeria M; Lachowicz, Joanna I; Laulicht-Glickc, Freda; Costa, Max

    2018-01-01

    Tungsten or wolfram was regarded for many years as an enemy within the tin smelting and mining industry, because it conferred impurity or dirtiness in tin mining. However, later it was considered an amazing metal for its strength and flexibility, together with its diamond like hardness and its melting point which is the highest of any metal. It was first believed to be relatively inert and an only slightly toxic metal. Since early 2000, the risk exerted by tungsten alloys, its dusts and particulates to induce cancer and several other adverse effects in animals as well as humans has been highlighted from in vitro and in vivo experiments. Thus, it becomes necessary to take a careful look at all the most recent data reported in the scientific literature, covering the years 2001-2016. In fact, the findings indicate that much more attention should be devoted to thoroughly investigate the toxic effects of tungsten and the involved mechanisms of tungsten metal or tungsten metal ions. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  17. Balance impairment in individuals with Wolfram syndrome.

    Science.gov (United States)

    Pickett, Kristen A; Duncan, Ryan P; Paciorkowski, Alex R; Permutt, M Alan; Marshall, Bess; Hershey, Tamara; Earhart, Gammon M

    2012-07-01

    Wolfram syndrome (WFS), a rare neurodegenerative disorder, is characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities. Although previously unreported, we hypothesized that neurological complications may be detectable in relatively early stages of the disease. As the cerebellum and brainstem seem particularly vulnerable in WFS, we focused on balance functions critically dependent on these regions. The primary goal of this investigation was to compare balance in young individuals with WFS, in relatively early stages of the disease, to an age-matched cohort using a clinically applicable test. Balance was assessed via the mini-BESTest in 13 children, adolescents and young adults with WFS and 30 typically developing age-matched individuals. A significant difference was observed between groups in balance as well as in three of four subcomponents of the mini-BESTest and in two timed tasks related to balance. Mini-BESTest scores were correlated with age among typically developing individuals. In the WFS group, mini-BESTest scores were related to overall motor dysfunction, but not age. Impairments in balance in WFS may occur earlier in the disease process than previously recognized and appear to be related to overall neurological progression rather than chronological age. Recognizing balance impairments and understanding which balance systems contribute to balance deficits in those with WFS may allow for development of effective patient-centered treatment paradigms. Copyright © 2012 Elsevier B.V. All rights reserved.

  18. Early brain vulnerability in Wolfram syndrome.

    Directory of Open Access Journals (Sweden)

    Tamara Hershey

    Full Text Available Wolfram Syndrome (WFS is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mutations in the WFS1 gene, which lead to endoplasmic reticulum (ER stress-mediated cell death. Case studies have found widespread brain atrophy in late stage WFS. However, it is not known when in the disease course these brain abnormalities arise, and whether there is differential vulnerability across brain regions and tissue classes. To address this limitation, we quantified regional brain abnormalities across multiple imaging modalities in a cohort of young patients in relatively early stages of WFS. Children and young adults with WFS were evaluated with neurological, cognitive and structural magnetic resonance imaging measures. Compared to normative data, the WFS group had intact cognition, significant anxiety and depression, and gait abnormalities. Compared to healthy and type 1 diabetic control groups, the WFS group had smaller intracranial volume and preferentially affected gray matter volume and white matter microstructural integrity in the brainstem, cerebellum and optic radiations. Abnormalities were detected in even the youngest patients with mildest symptoms, and some measures did not follow the typical age-dependent developmental trajectory. These results establish that WFS is associated with smaller intracranial volume with specific abnormalities in the brainstem and cerebellum, even at the earliest stage of clinical symptoms. This pattern of abnormalities suggests that WFS has a pronounced impact on early brain development in addition to later neurodegenerative effects, representing a significant new insight into the WFS disease process. Longitudinal studies will be critical for confirming and expanding our understanding of the impact of ER stress dysregulation on brain development.

  19. Early Brain Vulnerability in Wolfram Syndrome

    Science.gov (United States)

    Hershey, Tamara; Lugar, Heather M.; Shimony, Joshua S.; Rutlin, Jerrel; Koller, Jonathan M.; Perantie, Dana C.; Paciorkowski, Alex R.; Eisenstein, Sarah A.; Permutt, M. Alan

    2012-01-01

    Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mutations in the WFS1 gene, which lead to endoplasmic reticulum (ER) stress-mediated cell death. Case studies have found widespread brain atrophy in late stage WFS. However, it is not known when in the disease course these brain abnormalities arise, and whether there is differential vulnerability across brain regions and tissue classes. To address this limitation, we quantified regional brain abnormalities across multiple imaging modalities in a cohort of young patients in relatively early stages of WFS. Children and young adults with WFS were evaluated with neurological, cognitive and structural magnetic resonance imaging measures. Compared to normative data, the WFS group had intact cognition, significant anxiety and depression, and gait abnormalities. Compared to healthy and type 1 diabetic control groups, the WFS group had smaller intracranial volume and preferentially affected gray matter volume and white matter microstructural integrity in the brainstem, cerebellum and optic radiations. Abnormalities were detected in even the youngest patients with mildest symptoms, and some measures did not follow the typical age-dependent developmental trajectory. These results establish that WFS is associated with smaller intracranial volume with specific abnormalities in the brainstem and cerebellum, even at the earliest stage of clinical symptoms. This pattern of abnormalities suggests that WFS has a pronounced impact on early brain development in addition to later neurodegenerative effects, representing a significant new insight into the WFS disease process. Longitudinal studies will be critical for confirming and expanding our understanding of the impact of ER stress dysregulation on brain development. PMID:22792385

  20. Wolfram syndrome: new mutations, different phenotype.

    Directory of Open Access Journals (Sweden)

    Concetta Aloi

    Full Text Available BACKGROUND: Wolfram Syndrome (WS is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD". The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic β-cells and neurons. WS is a rare disease, with an estimated prevalence of 1/550.000 children, with a carrier frequency of 1/354. The aim of our study was to determine the genotype of WS patients in order to establish a genotype/phenotype correlation. METHODOLOGY/PRINCIPAL FINDINGS: We clinically evaluated 9 young patients from 9 unrelated families (6 males, 3 females. Basic criteria for WS clinical diagnosis were coexistence of insulin-treated diabetes mellitus and optic atrophy occurring before 15 years of age. Genetic analysis for WFS1 was performed by direct sequencing. Molecular sequencing revealed 5 heterozygous compound and 3 homozygous mutations. All of them were located in exon 8, except one in exon 4. In one proband only an heterozygous mutation (A684V was found. Two new variants c.2663 C>A and c.1381 A>C were detected. CONCLUSIONS/SIGNIFICANCE: Our study increases the spectrum of WFS1 mutations with two novel variants. The male patient carrying the compound mutation [c.1060_1062delTTC]+[c.2663 C>A] showed the most severe phenotype: diabetes mellitus, optic atrophy (visual acuity 5/10, deafness with deep auditory bilaterally 8000 Hz, diabetes insipidus associated to reduced volume of posterior pituitary and pons. He died in bed at the age of 13 years. The other patient carrying the compound mutation [c.409_424dup16]+[c.1381 A>C] showed a less severe phenotype (DM, OA.

  1. Congenital cataracts in two siblings with Wolfram syndrome.

    Science.gov (United States)

    Mets, Rebecca B; Emery, Sarah B; Lesperance, Marci M; Mets, Marilyn B

    2010-12-01

    Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. They are both compound heterozygotes for mutations (V415 deletion and A684V substitution) in the WFS1 gene. Their father has congenital sensorineural hearing loss and developed optic atrophy. He is heterozygous for A684V in WFS1. Wolfram syndrome should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood cataracts. Here, we report on a mother who is a phenotypically normal carrier of an autosomal recessive Wolfram syndrome gene, and a father who has some of the findings of the syndrome and carries a single mutation that appears to be responsible for his hearing loss and optic atrophy. Their 2 children are compound heterozygotes and manifest the full Wolfram syndrome, in addition to cataracts.

  2. Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome

    Directory of Open Access Journals (Sweden)

    Paulo R.G. Zen

    2002-12-01

    Full Text Available Objetivos: relatar o caso de um paciente com diagnóstico de síndrome de Wolfram (SW e braquidactilia do tipo E. A síndrome de Wolfram é caracterizada pela presença de diabetes melito, diabetes insípido, atrofia do nervo óptico, alterações do trato urinário, surdez e distúrbios neurológicos e psiquiátricos. No entanto, nem todas as manifestações estarão presentes no momento do diagnóstico, indicando a necessidade de acompanhamento a longo prazo destes pacientes. Este acompanhamento deve ser estendido aos familiares diretos, tendo em vista o risco aumentado da ocorrência de distúrbios psiquiátricos e diabetes melito entre os portadores heterozigotos da síndrome de Wolfram. Descrição: menino, branco, filho de pais não consangüíneos, era hígido até os 4 anos, quando iniciou com polidipsia e poliúria, sendo diagnosticada diabetes melito tipo I. Desde então, faz uso irregular de insulina e segue mal a dieta por problemas socioeconômicos. Foi avaliado pelo serviço de Genética aos 11 anos de idade. Ao exame físico, chamou a atenção a presença de braquidactilia. Durante a investigação complementar, constatou-se atrofia bilateral do nervo óptico, com potencial evocado visual e eletrorretinograma compatíveis com lesão grave de nervo. Ambas retinas eram normais. A presença de diabetes melito insulino-dependente e atrofia do nervo óptico são critérios suficientes para o diagnóstico de síndrome de Wolfram. A investigação molecular confirmou o diagnóstico. Comentários: o presente relato tem o objetivo de alertar os profissionais da área médica para a associação entre o diabetes melito e síndromes monogênicas, como a SW.ABSTRACT Objective: to report a case of a patient diagnosed with Wolfram Syndrome and brachydactyly type E. Wolfram Syndrome is characterized by the presence of diabetes mellitus, diabetes insipidus, atrophy of the optic nerve, alterations of the urinary tract, deafness and neurologic and

  3. Wolfram technologies as an integrated scalable platform for interactive learning

    Science.gov (United States)

    Kaurov, Vitaliy

    2012-02-01

    We rely on technology profoundly with the prospect of even greater integration in the future. Well known challenges in education are a technology-inadequate curriculum and many software platforms that are difficult to scale or interconnect. We'll review an integrated technology, much of it free, that addresses these issues for individuals and small schools as well as for universities. Topics include: Mathematica, a programming environment that offers a diverse range of functionality; natural language programming for getting started quickly and accessing data from Wolfram|Alpha; quick and easy construction of interactive courseware and scientific applications; partnering with publishers to create interactive e-textbooks; course assistant apps for mobile platforms; the computable document format (CDF); teacher-student and student-student collaboration on interactive projects and web publishing at the Wolfram Demonstrations site.

  4. [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].

    Science.gov (United States)

    Tanabe, Katsuya; Matsunaga, Kimie; Hatanaka, Masayuki; Akiyama, Masaru; Tanizawa, Yukio

    2015-02-01

    Wolfram syndrome(WFS: OMIM 222300) is a rare recessive neuro-endocrine degenerative disorder, known as DIDMOAD(Diabetes Insipidus, early-onset Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene(WFS1). The WFS1 protein is an endoplasmic reticulum(ER) embedded protein, which functions in ER calcium homeostasis and unfolded protein responses. Dysregulation of these cellular processes results in the development of ER stress, leading to apoptosis. In addition, abundantly present WFS1 protein in insulin secretory granules plays a role in the intra-granular acidification. However, the phenotypic pleiomorphism and molecular complexity of this disease limit the understanding of WFS. Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome.

  5. Wolfram syndrome: A rare mimic of type 1 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Manish Gutch

    2016-01-01

    Full Text Available Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM, optic atrophy, and deafness. Patients present with DM and optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, and renal outflow tract anomalies and other neurological manifestations later in life. We report a case of a 14-year-old boy who was diagnosed with insulin-dependent DM and subsequently discovered to have optic atrophy, sensorineural hearing loss, and cardiovascular defect with a positive family history. Such cases need to be evaluated thoroughly with respect to Wolfram syndrome and its associated anomalies.

  6. Cranial magnetic resonance imaging of wolfram (DIDMOAD) syndrome

    International Nuclear Information System (INIS)

    Pakdemirli, E.; Karabulut, N.; Bir, L.S.; Sermez, Y.

    2005-01-01

    Wolfram syndrome is a rare neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). A wide spectrum of abnormalities of the central nervous system, urinary tract and endocrine glands is also observed. We report cranial MRI findings in a 32-year-old female patient with Wolfram syndrome. In addition to the classical features, including absence of the normal high signal of the neurohypophysis, atrophy of visual pathways, the brainstem, cerebellum and cerebral cortex, we observed bilateral hyperintensity on proton density- and T 2 - weighted images related to the optic radiations in the periventricular white matter of the temporal and parieto-occipital lobes, which may reflect gliosis pathologically Copyright (2005) Blackwell Publishing Asia Pty Ltd

  7. A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.

    Science.gov (United States)

    Lu, Simin; Kanekura, Kohsuke; Hara, Takashi; Mahadevan, Jana; Spears, Larry D; Oslowski, Christine M; Martinez, Rita; Yamazaki-Inoue, Mayu; Toyoda, Masashi; Neilson, Amber; Blanner, Patrick; Brown, Cris M; Semenkovich, Clay F; Marshall, Bess A; Hershey, Tamara; Umezawa, Akihiro; Greer, Peter A; Urano, Fumihiko

    2014-12-09

    Wolfram syndrome is a genetic disorder characterized by diabetes and neurodegeneration and considered as an endoplasmic reticulum (ER) disease. Despite the underlying importance of ER dysfunction in Wolfram syndrome and the identification of two causative genes, Wolfram syndrome 1 (WFS1) and Wolfram syndrome 2 (WFS2), a molecular mechanism linking the ER to death of neurons and β cells has not been elucidated. Here we implicate calpain 2 in the mechanism of cell death in Wolfram syndrome. Calpain 2 is negatively regulated by WFS2, and elevated activation of calpain 2 by WFS2-knockdown correlates with cell death. Calpain activation is also induced by high cytosolic calcium mediated by the loss of function of WFS1. Calpain hyperactivation is observed in the WFS1 knockout mouse as well as in neural progenitor cells derived from induced pluripotent stem (iPS) cells of Wolfram syndrome patients. A small-scale small-molecule screen targeting ER calcium homeostasis reveals that dantrolene can prevent cell death in neural progenitor cells derived from Wolfram syndrome iPS cells. Our results demonstrate that calpain and the pathway leading its activation provides potential therapeutic targets for Wolfram syndrome and other ER diseases.

  8. Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations

    NARCIS (Netherlands)

    Pennings, RJE; Huygen, PLM; van den Ouweland, JMW; Cryns, K; Dikkeschei, LD; Van Camp, G; Cremers, CWRJ

    2004-01-01

    This study examined the audiovestibular profile of 11 Wolfram syndrome patients (4 males, 7 females) from 7 families, with identified WFS1 mutations, and the audiometric profile of 17 related heterozygous carriers of WFS1 mutations. Patients with Wolfram syndrome showed a downsloping audiogram and

  9. Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.

    NARCIS (Netherlands)

    Pennings, R.J.E.; Huygen, P.L.M.; Ouweland, J.M.W. van den; Cryns, K.; Dikkeschei, L.D.; Camp, G. van; Cremers, C.W.R.J.

    2004-01-01

    This study examined the audiovestibular profile of 11 Wolfram syndrome patients (4 males, 7 females) from 7 families, with identified WFS1 mutations, and the audiometric profile of 17 related heterozygous carriers of WFS1 mutations. Patients with Wolfram syndrome showed a downsloping audiogram and

  10. Wolfram Sendromlu Hastalarda Optik Koherans Tomografi Bulguları

    Directory of Open Access Journals (Sweden)

    Bengü Ekinci Köktekir

    2014-05-01

    Full Text Available Objectives: To report the optical coherence tomography (OCT findings in patients with Wolfram syndrome. Materials and Methods: Four patients who fulfilled the criteria for Wolfram syndrome were recruited to the study. In all patients, OCT was performed with Stratus OCT (OCT-3, Carl Zeiss Meditec, Inc. Germany. The fast retinal nerve fiber layer (RNFL and fast macular thickness protocols were used to measure the RNFL and macular thickness, respectively. The fast optic disc protocol was used to determine the cup-to-disc ratios of the optic disc. All patients were examined with VEP (Retimax, CSO Strumenti Oftalmici, Florence, Italy. Results: In eight eyes of four patients (3 male and 1 female with a mean age of 18.5±2.08 years (range 16-21 years, RNFL, macular thickness, and cup-to-disc ratios were determined. The mean RNFL was 42.2±5.6 µm (range 34.1-49.5 µm, while the mean macular thickness and cup-to-disc ratios were 145±15 µm (range 125-160 µm and 0.79±0.07 (range 0.7-0.92, respectively. There was a moderate negative correlation between VEP latencies and macular and RNFL thicknesses (Spearman correlation coefficient was -0.23 and -0.34, respectively. Conclusions: RNFL loss and secondary optical atrophy are severe complications that may affect the visual acuity in patients with Wolfram syndrome. Retinal changes in these patients may be quantified and can be observed using OCT. (Turk J Ophthalmol 2014; 44: 212-5

  11. Reliability and validity of the Wolfram Unified Rating Scale (WURS

    Directory of Open Access Journals (Sweden)

    Nguyen Chau

    2012-11-01

    Full Text Available Abstract Background Wolfram syndrome (WFS is a rare, neurodegenerative disease that typically presents with childhood onset insulin dependent diabetes mellitus, followed by optic atrophy, diabetes insipidus, deafness, and neurological and psychiatric dysfunction. There is no cure for the disease, but recent advances in research have improved understanding of the disease course. Measuring disease severity and progression with reliable and validated tools is a prerequisite for clinical trials of any new intervention for neurodegenerative conditions. To this end, we developed the Wolfram Unified Rating Scale (WURS to measure the severity and individual variability of WFS symptoms. The aim of this study is to develop and test the reliability and validity of the Wolfram Unified Rating Scale (WURS. Methods A rating scale of disease severity in WFS was developed by modifying a standardized assessment for another neurodegenerative condition (Batten disease. WFS experts scored the representativeness of WURS items for the disease. The WURS was administered to 13 individuals with WFS (6-25 years of age. Motor, balance, mood and quality of life were also evaluated with standard instruments. Inter-rater reliability, internal consistency reliability, concurrent, predictive and content validity of the WURS were calculated. Results The WURS had high inter-rater reliability (ICCs>.93, moderate to high internal consistency reliability (Cronbach’s α = 0.78-0.91 and demonstrated good concurrent and predictive validity. There were significant correlations between the WURS Physical Assessment and motor and balance tests (rs>.67, ps>.76, ps=-.86, p=.001. The WURS demonstrated acceptable content validity (Scale-Content Validity Index=0.83. Conclusions These preliminary findings demonstrate that the WURS has acceptable reliability and validity and captures individual differences in disease severity in children and young adults with WFS.

  12. Endocrine and metabolic aspects of the Wolfram syndrome.

    Science.gov (United States)

    Boutzios, Georgios; Livadas, Sarantis; Marinakis, Evangelos; Opie, Nicole; Economou, Frangiskos; Diamanti-Kandarakis, Evanthia

    2011-08-01

    Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a neurodegenerative disease with autosomal recessive inheritance with incomplete penetrance. DIDMOAD is a very rare disease with an estimated prevalence of 1 in 770,000 and it is believed to occur in 1 of 150 patients with juvenile-onset insulin-dependent diabetes mellitus. Additionally, WS may also present with different endocrine and metabolic abnormalities such as anterior and posterior pituitary gland dysfunction. This mini-review summarizes the variable presentation of WS and the need of screening for other metabolic and hormonal abnormalities, coexisting in this rare syndrome.

  13. Glutathione system in Wolfram syndrome 1‑deficient mice.

    Science.gov (United States)

    Porosk, Rando; Kilk, Kalle; Mahlapuu, Riina; Terasmaa, Anton; Soomets, Ursel

    2017-11-01

    Wolfram syndrome 1 (WS) is a rare neurodegenerative disease that is caused by mutations in the Wolfram syndrome 1 (WFS1) gene, which encodes the endoplasmic reticulum (ER) glycoprotein wolframin. The pathophysiology of WS is ER stress, which is generally considered to induce oxidative stress. As WS has a well‑defined monogenetic origin and a model for chronic ER stress, the present study aimed to characterize how glutathione (GSH), a major intracellular antioxidant, was related to the disease and its progression. The concentration of GSH and the activities of reduction/oxidation system enzymes GSH peroxidase and GSH reductase were measured in Wfs1‑deficient mice. The GSH content was lower in most of the studied tissues, and the activities of antioxidative enzymes varied between the heart, kidneys and liver tissues. The results indicated that GSH may be needed for ER stress control; however, chronic ER stress from the genetic syndrome eventually depletes the cellular GSH pool and leads to increased oxidative stress.

  14. Irreducibility and Computational Equivalence 10 Years After Wolfram's A New Kind of Science

    CERN Document Server

    2013-01-01

    It is clear that computation is playing an increasingly prominent role in the development of mathematics, as well as in the natural and social sciences. The work of Stephen Wolfram over the last several decades has been a salient part in this phenomenon helping founding the field of Complex Systems, with many of his constructs and ideas incorporated in his book A New Kind of Science (ANKS) becoming part of the scientific discourse and general academic knowledge--from the now established Elementary Cellular Automata to the unconventional concept of mining the Computational Universe, from today's widespread Wolfram's Behavioural Classification to his principles of Irreducibility and Computational Equivalence. This volume, with a Foreword by Gregory Chaitin and an Afterword by Cris Calude, covers these and other topics related to or motivated by Wolfram's seminal ideas, reporting on research undertaken in the decade following the publication of Wolfram's NKS book. Featuring 39 authors, its 23 contributions are o...

  15. Previously unreported abnormalities in Wolfram Syndrome Type 2.

    Science.gov (United States)

    Akturk, Halis Kaan; Yasa, Seda

    2017-01-01

    Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness. We report possible additional clinical and laboratory findings that have not been pre-viously reported, such as asymptomatic hypoparathyroidism, osteomalacia, growth hormone (GH) deficiency and hepatomegaly. Even though not a requirement for the diagnosis of WFS2 currently, our case series confirm hypogonadotropic hypogonadism to be also a feature of this syndrome, as reported before. © Polish Society for Pediatric Endocrinology and Diabetology.

  16. Lieutenant General Pete Quesada and Generalfeldmarschall Wolfram Von Richthofen: What Made Them Great

    Science.gov (United States)

    2009-06-01

    fluency in Italian. His hard-earned ability to converse in their language earned him the respect and friendship of many Italian air officers, most...France, 1940 Germany’s quick and decisive victory in Poland cemented the effectiveness of offensive operational maneuver warfare in the minds of

  17. USING THE WEB-SERVICES WOLFRAM|ALPHA TO SOLVE PROBLEMS IN PROBABILITY THEORY

    Directory of Open Access Journals (Sweden)

    Taras Kobylnyk

    2015-10-01

    Full Text Available The trend towards the use of remote network resources on the Internet clearly delineated. Traditional training combined with increasingly networked, remote technologies become popular cloud computing. Research methods of probability theory are used in various fields. Of particular note is the use of methods of probability theory in psychological and educational research in statistical analysis of experimental data. Conducting such research is impossible without the use of modern information technology. Given the advantages of web-based software, the article describes web-service Wolfram|Alpha. Detailed analysis of the possibilities of using web-service Wolfram|Alpha for solving problems of probability theory. In the case studies described the results of queries for solving of probability theory, in particular the sections random events and random variables. Considered and analyzed the problem of the number of occurrences of event A in n independent trials using Wolfram|Alpha, detailed analysis of the possibilities of using the service Wolfram|Alpha for the study of continuous random variable that has a normal and uniform probability distribution, including calculating the probability of getting the value of a random variable in a given interval. The problem in applying the binomial and hypergeometric probability distribution of a discrete random variable and demonstrates the possibility of using the service Wolfram|Alpha for solving it.

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

    Science.gov (United States)

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

    2014-01-01

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

  19. β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.

    Science.gov (United States)

    Shang, Linshan; Hua, Haiqing; Foo, Kylie; Martinez, Hector; Watanabe, Kazuhisa; Zimmer, Matthew; Kahler, David J; Freeby, Matthew; Chung, Wendy; LeDuc, Charles; Goland, Robin; Leibel, Rudolph L; Egli, Dieter

    2014-03-01

    Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. To investigate the cause of β-cell failure, we used induced pluripotent stem cells to create insulin-producing cells from individuals with Wolfram syndrome. WFS1-deficient β-cells showed increased levels of endoplasmic reticulum (ER) stress molecules and decreased insulin content. Upon exposure to experimental ER stress, Wolfram β-cells showed impaired insulin processing and failed to increase insulin secretion in response to glucose and other secretagogues. Importantly, 4-phenyl butyric acid, a chemical protein folding and trafficking chaperone, restored normal insulin synthesis and the ability to upregulate insulin secretion. These studies show that ER stress plays a central role in β-cell failure in Wolfram syndrome and indicate that chemical chaperones might have therapeutic relevance under conditions of ER stress in Wolfram syndrome and other forms of diabetes.

  20. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.

    Science.gov (United States)

    d'Annunzio, Giuseppe; Minuto, Nicola; D'Amato, Elena; de Toni, Teresa; Lombardo, Fortunato; Pasquali, Lorenzo; Lorini, Renata

    2008-09-01

    Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier frequency. We evaluated six Italian children from five unrelated families. Genetic analysis for Wolfram syndrome was performed by PCR amplification and direct sequencing. Mutation screening revealed five distinct variants, one novel mutation (c.1346C>T; p.T449I) and four previously described, all located in exon 8. Phenotype-genotype correlation is difficult, and the same mutation gives very different phenotypes. Severely inactivating mutations result in a more severe phenotype than mildly inactivating ones. Clinical follow-up showed the progressive syndrome's seriousness.

  1. Measurements of neutron capture cross sections of wolfram and thulium

    International Nuclear Information System (INIS)

    Xia Yijun; Wang Chunhao; Yang Jingfu; Yang Zhihua; Luo Xiaobing

    1992-01-01

    The neutron capture cross sections of wolfram and thulium were measured in the energy range from 10 to 100 KeV using gold as the standard. Kinematically collimated neutrons were produced via the 7 Li(p, n) 7 Be reaction with a 2.5 MV pulsed Van de Graaff accelerator at Sichuan University. The capture events were detected by a pair of Moxon-Rae detectors. Time-of-flight technique was used to improve the signal-background ratio. The present results are compared with data by other authors. The capture cross section were calculated from 10 to 100 KeV for two nuclides by the Hauser-Feshbach statistical theory with width fluctuation correction. The nonstatistical effects such as potential capture and radiative capture in elastic and inelastic channels of a compound nucleus were included in the calculations. The calculated results show that the nonstatistical contribution to the capture cross sections is negligible compared with that of the statistical effects

  2. Diabetes mellitus and optic atrophy: study of the Wolfram syndrome

    Science.gov (United States)

    Rivas-Gómez, Bernardette; Reza-Albarrán, Alfredo Adolfo

    2017-01-01

    Wolfram syndrome (WS), also known by the acronym DIDMOAD, is a rare and progresive hereditary disease of autosomal recessive inheritance which minimum ascertainment diagnostic criteria are the occurrence together of diabetes mellitus and optic atrophy before 15 years of age. To describe the clinical, biochemical and molecular profile of WS in a tertiary care hospital in Mexico. We reviewed patients records who fulfill the minimum ascertainment diagnostic criteria of WS presenting between January 1987 and May 2015 in a tertiary care hospital in Mexico. Five patients fulfill the inclusion criteria (three male and two female). Diabetes mellitus was the first manifestation of the syndrome in all of them, with a mean age at diagnosis of 5.8 ± 2.71 years, while the WS diagnosis was established at a mean age of 15.8 ± 8.37 years. All the patients had optic atrophy and two of them presented with the complete DIDMOAD spectrum. We found new associations with autoimmune hepatitis and testicular cancer. This study shows the variability of clinical presentation of WS, as well as two new associations. Copyright: © 2017 SecretarÍa de Salud

  3. WOLFRAM (DIDMOAD) SENDROMU BULUNAN BİR OLGUDAKİ ORAL BULGULAR (OLGU BİLDİRİMİ)

    OpenAIRE

    Hatipoğlu, Hasan; Hatipoğlu, Müjgan Güngör; Kansu, Özden

    2018-01-01

    Wolfram Sendromu, nadir görülen konjenital, birçok sistemi etkileyebilen sendromdur. Diabetes mellitus,diabetes insipidus, optik atrofi ve sağırlık ile karakterizedir. Hastalarda nörolojik rahatsızlıklar ile üriner sistemrahatsızlıkları ve psikolojik rahatsızlıklar da izlenir. Diabetes mellitus ve optik atrofi ilk ortaya çıkan bulgulardır.Bu olgu raporunda 20 yaşındaki Wolfram sendromlu erkek hastanın klinik ve radyografik ağız bulgularısunulmaktadır.

  4. Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.

    Science.gov (United States)

    Zmyslowska, A; Borowiec, M; Antosik, K; Szalecki, M; Stefanski, A; Iwaniszewska, B; Jedrzejczyk, M; Pietrzak, I; Mlynarski, W

    2011-11-01

    Wolfram syndrome is a rare form of diabetes mellitus associated with optic atrophy and disorders of different organs (e.g. diabetes insipidus, hearing loss, ataxia, anaemia and many others). This syndrome is caused by recessive mutations in the wolframin gene (WFS1) localized on chromosome 4p16·1. The aim of this study was to identify the causative mutations in WFS1 in a group of Polish patients with suspected Wolfram syndrome. Nine patients with clinical symptoms consistent with Wolfram syndrome (at least diabetes mellitus and optic atrophy) and 22 first-degree relatives were examined. The molecular analysis was carried out by direct sequencing of the exons, the exon-intron junctions, and the 5' and 3' untranslated regions of WFS1. Nine different mutations in WFS1 (five of them novel) were identified in the nine patients. Six patients were homozygous for the following mutations: V412fs, S443R, W539X, V659fs. They developed diabetes at a mean age of 5·2 years. Three patients were compound-heterozygous for the following mutations: S167fs, Q392X, Y513fs, W648X, V779G. They developed diabetes at a mean age of 6·5 years. Mean age of diagnosis of diabetes among the Polish patients was typical for Wolfram syndrome; however, compound-heterozygous patients were slightly older at diabetes onset. © 2011 Blackwell Publishing Ltd.

  5. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

    Science.gov (United States)

    Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

    2011-11-01

    Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  6. Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

    Science.gov (United States)

    Rohayem, Julia; Ehlers, Christian; Wiedemann, Bärbel; Holl, Reinhard; Oexle, Konrad; Kordonouri, Olga; Salzano, Giuseppina; Meissner, Thomas; Burger, Walter; Schober, Edith; Huebner, Angela; Lee-Kirsch, Min Ae

    2011-07-01

    To describe the diabetes phenotype in Wolfram syndrome compared with type 1 diabetes, to investigate the effect of glycemic control on the neurodegenerative process, and to assess the genotype-phenotype correlation. The clinical data of 50 patients with Wolfram syndrome-related diabetes (WSD) were reviewed and compared with the data of 24,164 patients with type 1 diabetes. Patients with a mean HbA1c during childhood and adolescence of ≤7.5 and >7.5% were compared with respect to the occurrence of additional Wolfram syndrome symptoms. The wolframin (WFS1) gene was screened for mutations in 39 patients. WFS1 genotypes were examined for correlation with age at onset of diabetes. WSD was diagnosed earlier than type 1 diabetes (5.4±3.8 vs. 7.9±4.2 years; P7.5% (P=0.031). Thirteen novel WSF1 mutations were identified. Predicted functional consequence of WFS1 mutations correlated with age at WSD onset (P=0.028). Endoplasmic reticulum stress-mediated decline of β-cells in WSD occurs earlier in life than autoimmune-mediated β-cell destruction in type 1 diabetes. This study establishes a role for WFS1 in determining the age at onset of diabetes in Wolfram syndrome and identifies glucose toxicity as an accelerating feature in the progression of disease.

  7. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.

    Science.gov (United States)

    Fonseca, Sonya G; Ishigaki, Shinsuke; Oslowski, Christine M; Lu, Simin; Lipson, Kathryn L; Ghosh, Rajarshi; Hayashi, Emiko; Ishihara, Hisamitsu; Oka, Yoshitomo; Permutt, M Alan; Urano, Fumihiko

    2010-03-01

    Wolfram syndrome is an autosomal-recessive disorder characterized by insulin-dependent diabetes mellitus, caused by nonautoimmune loss of beta cells, and neurological dysfunctions. We have previously shown that mutations in the Wolfram syndrome 1 (WFS1) gene cause Wolfram syndrome and that WFS1 has a protective function against ER stress. However, it remained to be determined how WFS1 mitigates ER stress. Here we have shown in rodent and human cell lines that WFS1 negatively regulates a key transcription factor involved in ER stress signaling, activating transcription factor 6alpha (ATF6alpha), through the ubiquitin-proteasome pathway. WFS1 suppressed expression of ATF6alpha target genes and repressed ATF6alpha-mediated activation of the ER stress response element (ERSE) promoter. Moreover, WFS1 stabilized the E3 ubiquitin ligase HRD1, brought ATF6alpha to the proteasome, and enhanced its ubiquitination and proteasome-mediated degradation, leading to suppression of ER stress signaling. Consistent with these data, beta cells from WFS1-deficient mice and lymphocytes from patients with Wolfram syndrome exhibited dysregulated ER stress signaling through upregulation of ATF6alpha and downregulation of HRD1. These results reveal a role for WFS1 in the negative regulation of ER stress signaling and in the pathogenesis of diseases involving chronic, unresolvable ER stress, such as pancreatic beta cell death in diabetes.

  8. c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

    Science.gov (United States)

    Safarpour Lima, Behnam; Ghaedi, Hamid; Daftarian, Narsis; Ahmadieh, Hamid; Jamshidi, Javad; Khorrami, Mehdi; Noroozi, Rezvan; Sohrabifar, Nasim; Assarzadegan, Farhad; Hesami, Omid; Taghavi, Shaghayegh; Ahmadifard, Azadeh; Atakhorrami, Minoo; Rahimi-Aliabadi, Simin; Shahmohammadibeni, Neda; Alehabib, Elham; Andarva, Monavvar; Darvish, Hossein; Emamalizadeh, Babak

    2016-02-01

    Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  9. Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.

    Science.gov (United States)

    Wragg, Ruth; Dias, Renuka P; Barrett, Timothy; McCarthy, Liam

    2018-02-01

    Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). It includes diabetes mellitus and insipidis, sensorineural deafness, optic atrophy, but not bladder dysfunction. However, this has appeared a common finding in our national referral clinic, and we sought to quantify this problem. Data were collected from a multidisciplinary team managing all Wolfram patients in the UK. The following was analyzed: age, date of non-invasive urodynamics (NIU), symptoms, bladder capacity, voided volume, post-void residual and uroflow pattern. Bladder capacity was given as percentage predicted bladder capacity (PBC). Bladders were divided into normal, overactive (OAB), and underactive (UAB). Symptoms, bladder behavior, and genotyping were correlated. Data were expressed as median (interquartile range). Forty patients with Wolfram syndrome were identified, and 38 underwent NIU. This showed normal bladder function (n=4), OAB (n=9), UAB (n=25). Symptoms were present in only 11 children. The different patterns of bladder behavior (OAB vs. normal vs. UAB) were significantly associated with different %PBC (36 (29-59)% vs. 105 (93-233)% vs. 100 (77.5-337)%; pWolfram syndrome (~90%), but most children cope (symptoms ~30%). With time there is a significant progression to megacystis, which may represent an underlying neuropathic myogenic failure and is likely to require intervention in the future. Level II (National cohort study of prognosis). Crown Copyright © 2017. Published by Elsevier Inc. All rights reserved.

  10. 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...

  11. 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...

  12. Early presentation of gait impairment in Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Pickett Kristen A

    2012-12-01

    Full Text Available Abstract Background Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD individuals may be detectable across the course of the disease. Methods Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. Results Across all tasks, individuals with WFS walked slower (p = 0.03, took shorter (p ≤ 0.001 and wider (p ≤ 0.001 steps and spent a greater proportion of the gait cycle in double support (p = 0.03 compared to TD individuals. Cadence did not differ between groups (p = 0.62. Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (rs= 0.564, p = 0.045 and dual task forward walking (rs= 0.720, p = 0.006 tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001. Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = −0.59, p = 0.03 and percent of gait cycle in double support during backward walking (rs = −0.64, p = 0.03. Conclusions Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits

  13. Early presentation of gait impairment in Wolfram Syndrome.

    Science.gov (United States)

    Pickett, Kristen A; Duncan, Ryan P; Hoekel, James; Marshall, Bess; Hershey, Tamara; Earhart, Gammon M

    2012-12-08

    Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD) individuals may be detectable across the course of the disease. Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs) and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs) using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. Across all tasks, individuals with WFS walked slower (p = 0.03), took shorter (p ≤ 0.001) and wider (p ≤ 0.001) steps and spent a greater proportion of the gait cycle in double support (p = 0.03) compared to TD individuals. Cadence did not differ between groups (p = 0.62). Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (rs = 0.564, p = 0.045) and dual task forward walking (rs = 0.720, p = 0.006) tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001). Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = -0.59, p = 0.03) and percent of gait cycle in double support during backward walking (rs = -0.64, p = 0.03). Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits associated with WFS, and may be a reflection of early cerebellar and

  14. Selective cognitive and psychiatric manifestations in Wolfram Syndrome.

    Science.gov (United States)

    Bischoff, Allison N; Reiersen, Angela M; Buttlaire, Anna; Al-Lozi, Amal; Doty, Tasha; Marshall, Bess A; Hershey, Tamara

    2015-05-30

    Wolfram Syndrome (WFS) is known to involve diabetes mellitus, diabetes insipidus, optic nerve atrophy, vision loss, hearing impairment, motor abnormalities, and neurodegeneration, but has been less clearly linked to cognitive, sleep, and psychiatric abnormalities. We sought to determine whether these abnormalities are present in children, adolescents, and young adults with WFS compared to age- and gender-matched individuals with and without type 1 diabetes using standardized measures. Individuals with genetically-confirmed WFS (n = 19, ages 7-27) were compared to age- and gender- equivalent groups of individuals with type 1 diabetes (T1DM; n = 25), and non-diabetic healthy controls (HC: n = 25). Cognitive performance across multiple domains (verbal intelligence, spatial reasoning, memory, attention, smell identification) was assessed using standardized tests. Standardized self- and parent-report questionnaires on psychiatric symptoms and sleep disturbances were acquired from all groups and an unstructured psychiatric interview was performed within only the WFS group. The three groups were similar demographically (age, gender, ethnicity, parental IQ). WFS and T1DM had similar duration of diabetes but T1DM had higher HbA1C levels than WFS and as expected both groups had higher levels than HC. The WFS group was impaired on smell identification and reported sleep quality, but was not impaired in any other cognitive or self-reported psychiatric domain. In fact, the WFS group performed better than the other two groups on selected memory and attention tasks. However, based upon a clinical evaluation of only WFS patients, we found that psychiatric and behavioral problems were present and consisted primarily of anxiety and hypersomnolence. This study found that cognitive performance and psychological health were relatively preserved WFS patients, while smell and sleep abnormalities manifested in many of the WFS patients. These findings contradict past case and

  15. The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes.

    Science.gov (United States)

    Boettcher, Claudia; Brosig, Burkhard; Zimmer, Klaus P; Wudy, Stefan A

    2011-01-01

    Wolfram syndrome (also known as DIDMOAD = diabetes insipidus, diabetes mellitus, optic atrophy, deafness) is an autosomal recessive disorder characterized by the association of childhood non-immune insulin-dependent diabetes mellitus (DM) with progressive bilateral optic atrophy. Additional symptoms including signs of severe neurodegeneration and psychiatric illness are likely to evolve over time resulting in premature death. We report on two siblings of Turkish origin from our diabetes clinic who were diagnosed with Wolfram syndrome after 6 years and 2 years duration of DM, respectively. Subtle symptoms such as attitude changes, growing reading difficulties in the history of children or adolescents with antibody negative and ketone negative DM should alert the treating physician and lead to re-evaluation of the diagnosis, keeping in mind that not all juvenile DM is type 1 DM.

  16. Some applications of linear difference equations in finance with wolfram|alpha and maple

    Directory of Open Access Journals (Sweden)

    Dana Rıhová

    2014-12-01

    Full Text Available The principle objective of this paper is to show how linear difference equations can be applied to solve some issues of financial mathematics. We focus on the area of compound interest and annuities. In both cases we determine appropriate recursive rules, which constitute the first order linear difference equations with constant coefficients, and derive formulas required for calculating examples. Finally, we present possibilities of application of two selected computer algebra systems Wolfram|Alpha and Maple in this mathematical area.

  17. Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up.

    Science.gov (United States)

    Mozafarpour, Sarah; Kajbafzadeh, Abdol-Mohammad; Mojtahed, Ali; Mojtahed, Mohammad; Mahboubi, Hossein; Shalileh, Keivan

    2015-07-01

    To present the long-term outcomes of appendicovesicostomy using the Mitrofanoff principle for end-stage Wolfram bladder dysfunction as an alternative to clean intermittent self-catheterization (CIC) per urethra mainly following blindness. Twelve Wolfram patients presenting with bilateral hydroureteronephrosis and advanced bladder dysfunction were included in this study. All patients were managed initially by CIC per urethra. All of these patients became blind during follow-up and were unable to perform urethral CIC independently. Out of these patients, six patients agreed to proceed to appendicovesicostomy. Appendicovesicostomy urinary diversion using the Mitrofanoff principle was performed in these six blind patients. The rest of the patients stopped CIC or performed CIC irregularly. Severe hydroureteronephrosis and large bladders were found in all patients prior to intervention. All patients were able to conduct CIC independently through the stoma and maintained overnight bladder free drainage. In all patients with urinary diversion and CIC, the hydroureteronephrosis was reduced and renal function returned to normal. However, the non-intervention group ended with different degrees of progressive renal failure with three mortalities during the follow-up. We suggest appendicovesicostomy as a safe and lifesaving procedure for long-term management of bladder dysfunction in Wolfram syndrome particularly after progression to blindness. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome.

    Science.gov (United States)

    Hoekel, James; Chisholm, Smith Ann; Al-Lozi, Amal; Hershey, Tamara; Tychsen, Lawrence

    2014-10-01

    To describe an ophthalmic phenotype in children at relatively early stages of Wolfram syndrome. Quantitative ophthalmic testing of visual acuity, color vision, automated visual field sensitivity, optic nerve pallor and cupping, and retinal nerve fiber layer (RNFL) thickness assessed by optical coherence tomography (OCT) was performed in 18 subjects 5-25 years of age. Subjects were also examined for presence or absence of afferent pupillary defects, cataracts, nystagmus, and strabismus. Subnormal visual acuity was detected in 89% of subjects, color vision deficits in 94%, visual field defects in 100%, optic disk pallor in 94%, abnormally large optic nerve cup:disk ratio in 33%, thinned RNFL in 100%, afferent pupillary defects in 61%, cataracts in 22%, nystagmus in 39%, and strabismus in 39% of subjects. RNFL thinning (P Wolfram United Rating Scale. Children and adolescents with Wolfram syndrome have multiple ophthalmic markers that correlate with overall disease severity. RNFL thickness measured by OCT may be the most reliable early marker. Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Tuuli Sedman

    2016-01-01

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

  1. Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.

    Science.gov (United States)

    Waschbisch, Anne; Volbers, Bastian; Struffert, Tobias; Hoyer, Juliane; Schwab, Stefan; Bardutzky, Juergen

    2011-01-15

    Wolfram syndrome is a rare, autosomal recessive, neurodegenerative disorder presenting with the main clinical symptoms of childhood-onset diabetes mellitus, optic atrophy, diabetes insipidus and deafness (DIDMOAD). Later stages of the disease are dominated by neurological complications and death occurs early in life with a median life expectancy of 30 years. Here we present a 44 year old patient who presented to our hospital with central respiratory failure, cognitive impairment, ataxia and parkinsonism and was first diagnosed with Wolfram syndrome. DNA sequence analysis revealed a novel pathogenic mutation within the WFS1 gene. Advanced clinical and imaging studies performed in this patient highlight the neurodegenerative process in Wolfram syndrome and expand our knowledge on the mutational spectrum of the disease. Copyright © 2010 Elsevier B.V. All rights reserved.

  2. WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.

    Science.gov (United States)

    Yu, Guang; Yu, Man-li; Wang, Jia-feng; Gao, Cong-rong; Chen, Zhong-jin

    2010-10-01

    Wolfram syndrome is a rare hereditary disease characterized by diabetes mellitus and optic atrophy. The outcome of this disease is always poor. WFS1 gene mutation is the main cause of this disease. A patient with diabetes mellitus, diabetes insipidus, renal tract disorder, psychiatric abnormality, and cataract was diagnosed with Wolfram syndrome. Mutations in open reading frame (ORF) of WFS1 gene was analyzed by sequencing. Mutations in WFS1 gene was also summarized by a systematic review in Pubmed and Chinese biological and medical database. Sequencing of WFS1 gene in this patient showed a new mutation, 1962G>A, and two other non-sense mutations, 2433A>G and 2565G>A. Systematic review included 219 patients in total and identified 172 WFS1 gene mutations, most of which were located in Exon 8. These mutations in WFS1 gene might be useful in prenatal diagnosis of Wolfram syndrome.

  3. Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.

    Science.gov (United States)

    Galvez-Ruiz, Alberto

    2015-01-01

    Dominant optic atrophy (DOA) and Wolfram syndrome share a great deal of clinical variability, including an association with hearing loss and the presence of optic atrophy at similar ages. The objective of this paper was to discuss the phenotypic variability of these syndromes with respect to the presentation of two clinical cases. We present two patients, each with either DOA or Wolfram syndrome, and contribute to the research literature through our findings of two novel mutations. The overlapping of several clinical characteristics in hereditary optic neuropathies can complicate the differential diagnosis. Future studies are needed to better determine the genotype-phenotype correlation for these diseases.

  4. Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome.

    Science.gov (United States)

    Maleki, Nasrollah; Bashardoust, Bahman; Zakeri, Anahita; Salehifar, Azita; Tavosi, Zahra

    2015-01-01

    To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. A 19-year-old female patient, a known case of diabetes mellitus type I from six years before, presented with progressive vision loss since four years earlier. On fundoscopic examination, she had bilateral optic atrophy without diabetic retinopathy. The patient also had diabetes insipidus, neurosensory deafness, and neurogenic bladder. WS should be considered a differential diagnosis in patients with diabetes mellitus who present with optic atrophy, and it is necessary to perform a hearing test as well as collecting 24-h urine output.

  5. A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome.

    Science.gov (United States)

    Noorian, Shahab; Savad, Shahram; Mohammadi, Davood Shah

    2016-05-01

    Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder, which is mostly caused by mutations in the WFS1 gene. The WFS1 gene product, which is called wolframin, is thought to regulate the function of endoplasmic reticulum. The endoplasmic reticulum has a critical role in protein folding and material transportation within the cell or to the surface of the cell. Identification of new mutations in WFS1 gene will unravel the molecular pathology of WS. The aim of this case report study is to describe a novel mutation in exon 4 of the WFS1 gene (c.330C>A) in a 9-year-old boy with WS.

  6. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    DEFF Research Database (Denmark)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third...... and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome...

  7. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.

    Science.gov (United States)

    de Heredia, Miguel López; Clèries, Ramón; Nunes, Virginia

    2013-07-01

    Wolfram syndrome is a degenerative, recessive rare disease with an onset in childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different variations in WFS1 have been described in patients with Wolfram syndrome, which complicates the establishment of clear genotype-phenotype correlation. The purpose of this study was to elucidate the role of WFS1 mutations and update the natural history of the disease. This study analyzed clinical and genetic data of 412 patients with Wolfram syndrome published in the last 15 years. (i) 15% of published patients do not fulfill the current -inclusion criterion; (ii) genotypic prevalence differences may exist among countries; (iii) diabetes mellitus and optic atrophy might not be the first two clinical features in some patients; (iv) mutations are nonuniformly distributed in WFS1; (v) age at onset of diabetes mellitus, hearing defects, and diabetes insipidus may depend on the patient's genotypic class; and (vi) disease progression rate might depend on genotypic class. New genotype-phenotype correlations were established, disease progression rate for the general population and for the genotypic classes has been calculated, and new diagnostic criteria have been proposed. The conclusions raised could be important for patient management and counseling as well as for the development of treatments for Wolfram syndrome.

  8. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

    NARCIS (Netherlands)

    Cryns, K; Sivakumaran, TA; Van den Ouweland, JMW; Pennings, RJE; Cremers, CWRJ; Flothmann, K; Young, TL; Smith, RJH; Lesperance, MM; Van Camp, G

    2003-01-01

    WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition,

  9. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

    NARCIS (Netherlands)

    Cryns, K.; Sivakumaran, T.A.; Ouweland, J.M.W. van den; Pennings, R.J.E.; Cremers, C.W.R.J.; Flothmann, K.; Young, T.L.; Smith, R.J.H.; Lesperance, M.M.; Camp, G. van

    2003-01-01

    WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition,

  10. Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome.

    Science.gov (United States)

    Cagalinec, Michal; Liiv, Mailis; Hodurova, Zuzana; Hickey, Miriam Ann; Vaarmann, Annika; Mandel, Merle; Zeb, Akbar; Choubey, Vinay; Kuum, Malle; Safiulina, Dzhamilja; Vasar, Eero; Veksler, Vladimir; Kaasik, Allen

    2016-07-01

    Deficiency of the protein Wolfram syndrome 1 (WFS1) is associated with multiple neurological and psychiatric abnormalities similar to those observed in pathologies showing alterations in mitochondrial dynamics. The aim of this study was to examine the hypothesis that WFS1 deficiency affects neuronal function via mitochondrial abnormalities. We show that down-regulation of WFS1 in neurons leads to dramatic changes in mitochondrial dynamics (inhibited mitochondrial fusion, altered mitochondrial trafficking, and augmented mitophagy), delaying neuronal development. WFS1 deficiency induces endoplasmic reticulum (ER) stress, leading to inositol 1,4,5-trisphosphate receptor (IP3R) dysfunction and disturbed cytosolic Ca2+ homeostasis, which, in turn, alters mitochondrial dynamics. Importantly, ER stress, impaired Ca2+ homeostasis, altered mitochondrial dynamics, and delayed neuronal development are causatively related events because interventions at all these levels improved the downstream processes. Our data shed light on the mechanisms of neuronal abnormalities in Wolfram syndrome and point out potential therapeutic targets. This work may have broader implications for understanding the role of mitochondrial dynamics in neuropsychiatric diseases.

  11. Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome.

    Directory of Open Access Journals (Sweden)

    Michal Cagalinec

    2016-07-01

    Full Text Available Deficiency of the protein Wolfram syndrome 1 (WFS1 is associated with multiple neurological and psychiatric abnormalities similar to those observed in pathologies showing alterations in mitochondrial dynamics. The aim of this study was to examine the hypothesis that WFS1 deficiency affects neuronal function via mitochondrial abnormalities. We show that down-regulation of WFS1 in neurons leads to dramatic changes in mitochondrial dynamics (inhibited mitochondrial fusion, altered mitochondrial trafficking, and augmented mitophagy, delaying neuronal development. WFS1 deficiency induces endoplasmic reticulum (ER stress, leading to inositol 1,4,5-trisphosphate receptor (IP3R dysfunction and disturbed cytosolic Ca2+ homeostasis, which, in turn, alters mitochondrial dynamics. Importantly, ER stress, impaired Ca2+ homeostasis, altered mitochondrial dynamics, and delayed neuronal development are causatively related events because interventions at all these levels improved the downstream processes. Our data shed light on the mechanisms of neuronal abnormalities in Wolfram syndrome and point out potential therapeutic targets. This work may have broader implications for understanding the role of mitochondrial dynamics in neuropsychiatric diseases.

  12. Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

    Science.gov (United States)

    Ghahraman, Martha; Abbaszadegan, Mohammad Reza; Vakili, Rahim; Hosseini, Sousan; Fardi Golyan, Fatemeh; Ghaemi, Nosrat; Forghanifard, Mohammad Mahdi

    2016-12-01

    Wolfram syndrome is a rare neurodegenerative disorder with an autosomal recessive pattern of inheritance characterized by various clinical manifestations. The related gene, WFS1, encodes a transmembrane glycoprotein, named wolframin. Genetic analyses demonstrated that mutations in this gene are associated with WS type 1. Our aim in this study was to sequence WFS1 coding region in Iranian Wolfram syndrome pedigrees. Genomic DNA was extracted from peripheral blood of 12 WS patients and their healthy parents. Exons 2-8 and the exon-intron junctions of WFS1 were sequenced. DNA sequences were compared to the reference using Sequencher software. Molecular analysis of WFS1 revealed six different mutations. Four novel and two previously reported mutations were identified. One novel mutation, c.1379_1381del, is predicted to produce an aberrant protein. A second novel mutation, c.1384G > T, encodes a truncated protein. Novel mutation, c.1097-1107dup (11 bp), causes a frameshift which results in a premature stop codon. We screened for the novel missense mutation, c.1010C > T, in 100 control alleles. This mutation was not found in any of the healthy controls. Our study increased the spectrum of WFS1 mutations and supported the role of WFS1 in susceptibility to WS. We hope that these findings open new horizons to future molecular investigations which may help to prevent and treat this devastating disease.

  13. The effects of disease-related symptoms on daily function in Wolfram Syndrome.

    Science.gov (United States)

    Doty, Tasha; Foster, Erin R; Marshall, Bess; Ranck, Samantha; Hershey, Tamara

    2017-01-01

    To investigate daily function among individuals with Wolfram Syndrome (WFS) and examine whether any limitations are related to disease-related symptoms. WFS ( n = 31), Type 1 diabetic (T1DM; n = 25), and healthy control (HC; n = 29) participants completed the Pediatric Quality of Life Questionnaire (PEDSQL) Self and Parent Report. PEDSQL domain scores were compared among these groups and between WFS patients with and without specific disease-related symptoms. Relationships between PEDSQL scores and symptom severity as assessed by the Wolfram Unified Rating Scale (WURS) Physical Scale were also examined. Across most domains, the WFS group had lower PEDSQL Self and Parent Report scores than the T1DM and HC groups. WFS participants with urinary, sleep, and temperature regulation problems had lower PEDSQL scores than those without. The WURS Physical Scale correlated with Self and Parent Report PEDSQL domains. WFS group Self and Parent Reports correlated with each other. The WFS group reported lower daily function compared to T1DM and HC groups. Within WFS, worse symptom severity and the specific symptoms of sleep, temperature regulation, and urinary problems were associated with poorer daily function. These findings provide rationale for an increased emphasis on identifying, treating and understanding these less well-known symptoms of WFS.

  14. The effects of disease-related symptoms on daily function in Wolfram Syndrome

    Science.gov (United States)

    Doty, Tasha; Foster, Erin R.; Marshall, Bess; Ranck, Samantha; Hershey, Tamara

    2017-01-01

    OBJECTIVE: To investigate daily function among individuals with Wolfram Syndrome (WFS) and examine whether any limitations are related to disease-related symptoms. METHODS: WFS (n = 31), Type 1 diabetic (T1DM; n = 25), and healthy control (HC; n = 29) participants completed the Pediatric Quality of Life Questionnaire (PEDSQL) Self and Parent Report. PEDSQL domain scores were compared among these groups and between WFS patients with and without specific disease-related symptoms. Relationships between PEDSQL scores and symptom severity as assessed by the Wolfram Unified Rating Scale (WURS) Physical Scale were also examined. RESULTS: Across most domains, the WFS group had lower PEDSQL Self and Parent Report scores than the T1DM and HC groups. WFS participants with urinary, sleep, and temperature regulation problems had lower PEDSQL scores than those without. The WURS Physical Scale correlated with Self and Parent Report PEDSQL domains. WFS group Self and Parent Reports correlated with each other. CONCLUSIONS: The WFS group reported lower daily function compared to T1DM and HC groups. Within WFS, worse symptom severity and the specific symptoms of sleep, temperature regulation, and urinary problems were associated with poorer daily function. These findings provide rationale for an increased emphasis on identifying, treating and understanding these less well-known symptoms of WFS. PMID:29130034

  15. Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome.

    Science.gov (United States)

    Küçüktaşçi, Kazim; Semiz, Serap; Balci, Yasemin Işik; Özsari, Tamer; Gürses, Dolunay; Önem, Gökhan; Saçar, Mustafa; Düzcan, Füsun; Yüksel, Doğangün; Semiz, Ender

    2016-10-01

    Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.

  16. [From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)

    NARCIS (Netherlands)

    Pennings, R.J.E.; Dikkeschei, L.D.; Cremers, C.W.R.J.; Ouweland, J.M.W. van den

    2002-01-01

    Wolfram syndrome patients are mainly characterised by juvenile onset diabetes mellitus and optic atrophy. A synonym is the acronym DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, deafness. Diabetes insipidus and sensorineural high-frequency hearing impairment are important additional

  17. 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.

  18. Sparse linear systems: Theory of decomposition, methods, technology, applications and implementation in Wolfram Mathematica

    International Nuclear Information System (INIS)

    Pilipchuk, L. A.; Pilipchuk, A. S.

    2015-01-01

    In this paper we propose the theory of decomposition, methods, technologies, applications and implementation in Wol-fram Mathematica for the constructing the solutions of the sparse linear systems. One of the applications is the Sensor Location Problem for the symmetric graph in the case when split ratios of some arc flows can be zeros. The objective of that application is to minimize the number of sensors that are assigned to the nodes. We obtain a sparse system of linear algebraic equations and research its matrix rank. Sparse systems of these types appear in generalized network flow programming problems in the form of restrictions and can be characterized as systems with a large sparse sub-matrix representing the embedded network structure

  19. Potential of Wolfram technologies in construction and research of econometric models

    Directory of Open Access Journals (Sweden)

    Dmitry A. Vlasov

    2017-12-01

    Full Text Available In the center of attention of article didactic, applied and research potentials of technologies of the modern knowledge base and a set of computing algorithms Wolfram in creation and a research of econometric models. Econometric models and methods traditionally play a special role in applied mathematical training of students of an economic bachelor degree in Plekhanov Russian University of Economics. Within this article experience of forming of content of applied mathematical training of future bachelor of economy and methodical features of use of information technologies in the course of econometric modeling of social and economic situations and teaching subject matters of «The econometrician (basic level» for students of an economic bachelor degree and «The econometrician (advanced level» for students of an economic magistracy is provided. The allocated sixteen tools fully allow to focus attention to development of innovative components of professional competence of future bachelors of economy.

  20. Sparse linear systems: Theory of decomposition, methods, technology, applications and implementation in Wolfram Mathematica

    Energy Technology Data Exchange (ETDEWEB)

    Pilipchuk, L. A., E-mail: pilipchik@bsu.by [Belarussian State University, 220030 Minsk, 4, Nezavisimosti avenue, Republic of Belarus (Belarus); Pilipchuk, A. S., E-mail: an.pilipchuk@gmail.com [The Natural Resources and Environmental Protestion Ministry of the Republic of Belarus, 220004 Minsk, 10 Kollektornaya Street, Republic of Belarus (Belarus)

    2015-11-30

    In this paper we propose the theory of decomposition, methods, technologies, applications and implementation in Wol-fram Mathematica for the constructing the solutions of the sparse linear systems. One of the applications is the Sensor Location Problem for the symmetric graph in the case when split ratios of some arc flows can be zeros. The objective of that application is to minimize the number of sensors that are assigned to the nodes. We obtain a sparse system of linear algebraic equations and research its matrix rank. Sparse systems of these types appear in generalized network flow programming problems in the form of restrictions and can be characterized as systems with a large sparse sub-matrix representing the embedded network structure.

  1. 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....

  2. Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.

    Science.gov (United States)

    Chacón-Camacho, Oscar; Arce-Gonzalez, Rocio; Granillo-Alvarez, Mariella; Flores-Limas, Sanjuanita; Ramírez, Magdalena; Zenteno, Juan C

    2013-12-01

    To present the results of the clinical and molecular analyses of a familial case of Wolfram Syndrome (WFS) associated with a novel ocular anomaly. Full ophthalmologic examination was performed in two WFS siblings. Visante OCT imaging was used for assessing anterior segment anomalies. Genetic analysis included PCR amplification and exon-by-exon nucleotide sequencing of the WFS1 gene. Ocular anomalies in both affected siblings included congenital cataract, glaucoma, and optic atrophy. Interestingly, microspherophakia, a feature that has not been previously associated with WFS, was observed in both siblings. Genetic analysis disclosed a novel c.1525_1539 homozygous deletion in exon 8 of WFS1 in DNA from both affected patients. The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome.

  3. A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.

    Science.gov (United States)

    Li, Min; Liu, Jia; Yi, Huan; Xu, Li; Zhong, Xiufeng; Peng, Fuhua

    2018-03-17

    Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis optica (NMO) and referred to our department for further diagnosis. Finally he was diagnosed with WS because of diabetes mellitus (DM) and optic atrophy (OA). Eight exons and flanking introns of WFS1 gene were analyzed by sequencing. A novel mutation c.1760G > A in WFS1 gene of exon 8 was identified. This report reviews a case of WS associated with a novel mutation, c.1760G > A in WFS1 gene of exon 8, and emphasizes that WS should be taken into account for juveniles with visual loss and diabetes mellitus.

  4. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

    Science.gov (United States)

    Lieber, Daniel S; Vafai, Scott B; Horton, Laura C; Slate, Nancy G; Liu, Shangtao; Borowsky, Mark L; Calvo, Sarah E; Schmahmann, Jeremy D; Mootha, Vamsi K

    2012-01-06

    Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA) and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci. Targeted exome sequencing was performed on a patient initially suspected to have a mitochondrial disorder. The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. Further work-up revealed multiple heteroplasmic mtDNA deletions as well as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome. This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients.

  5. Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea.

    Science.gov (United States)

    Suzuki, Noriomi; Hosoya, Makoto; Oishi, Naoki; Okano, Hideyuki; Fujioka, Masato; Ogawa, Kaoru

    2016-08-03

    Wolfram syndrome is an autosomal recessive disorder of the neuroendocrine system, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome, and considered an endoplasmic reticulum disease. Patients show mutations in WFS1, which encodes the 890 amino acid protein wolframin. Although Wfs1 knockout mice develop diabetes, their hearing level is completely normal. In this study, we examined the expression of wolframin in the cochlea of a nonhuman primate common marmoset (Callithrix jacchus) to elucidate the discrepancy in the phenotype between species and the pathophysiology of Wolfram syndrome-associated deafness. The marmoset cochlea showed wolframin immunoreactivity not only in the spiral ligament type I fibrocytes, spiral ganglion neurons, outer hair cells, and supporting cells, but in the stria vascularis basal cells, where wolframin expression was not observed in the previous mouse study. Considering the absence of the deafness phenotype in Wfs1 knockout mice, the expression of wolframin in the basal cells of primates may play an essential role in the maintenance of hearing. Elucidating the function of wolframin protein in the basal cells of primates would be essential for understanding the pathogenesis of hearing loss in patients with Wolfram syndrome, which may lead to the discovery of new therapeutics.

  6. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

    Directory of Open Access Journals (Sweden)

    Lieber Daniel S

    2012-01-01

    Full Text Available Abstract Background Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci. Case Presentation Targeted exome sequencing was performed on a patient initially suspected to have a mitochondrial disorder. The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. Further work-up revealed multiple heteroplasmic mtDNA deletions as well as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome. Conclusion This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients.

  7. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.

    Science.gov (United States)

    Mezghani, Najla; Mnif, Mouna; Mkaouar-Rebai, Emna; Kallel, Nozha; Salem, Ikhlass Haj; Charfi, Nadia; Abid, Mohamed; Fakhfakh, Faiza

    2011-07-29

    Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions. Copyright © 2011 Elsevier Inc. All rights reserved.

  8. A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.

    Science.gov (United States)

    Paris, Liliana P; Usui, Yoshihiko; Serino, Josefina; Sá, Joaquim; Friedlander, Martin

    2015-06-01

    Wolfram syndrome type 1 is a rare, autosomal recessive, neurodegenerative disorder that is diagnosed when insulin-dependent diabetes of non-auto-immune origin and optic atrophy are concomitantly present. Wolfram syndrome is also designated by DIDMOAD that stands for its most frequent manifestations: diabetes insipidus, diabetes mellitus, optic atrophy and deafness. With disease progression, patients also commonly develop severe neurological and genito-urinary tract abnormalities. When compared to the general type 1 diabetic population, patients with Wolfram Syndrome have been reported to have a form of diabetes that is more easily controlled and with less microvascular complications, such as diabetic retinopathy. We report a case of Wolfram syndrome in a 16-year-old male patient who presented with progressive optic atrophy and severe diabetes with very challenging glycemic control despite intensive therapy since diagnosis at the age of 6. Despite inadequate metabolic control he did not develop any diabetic microvascular complications during the 10-year follow-up period. To further investigate potential causes for this metabolic idiosyncrasy, we performed genetic analyses that revealed a novel combination of homozygous sequence variants that are likely the cause of the syndrome in this family. The identified genotype included a novel sequence variant in the Wolfram syndrome type 1 gene along with a previously described one, which had initially been associated with isolated low frequency sensorineural hearing loss (LFSNHL). Interestingly, our patient did not show any abnormal findings with audiometry testing.

  9. A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant

    Science.gov (United States)

    Paris, Liliana P; Usui, Yoshihiko; Serino, Josefina; Sá, Joaquim; Friedlander, Martin

    2015-01-01

    Wolfram syndrome type 1 is a rare, autosomal recessive, neurodegenerative disorder that is diagnosed when insulin-dependent diabetes of non-auto-immune origin and optic atrophy are concomitantly present. Wolfram syndrome is also designated by DIDMOAD that stands for its most frequent manifestations: diabetes insipidus, diabetes mellitus, optic atrophy and deafness. With disease progression, patients also commonly develop severe neurological and genito-urinary tract abnormalities. When compared to the general type 1 diabetic population, patients with Wolfram Syndrome have been reported to have a form of diabetes that is more easily controlled and with less microvascular complications, such as diabetic retinopathy. We report a case of Wolfram syndrome in a 16-year-old male patient who presented with progressive optic atrophy and severe diabetes with very challenging glycemic control despite intensive therapy since diagnosis at the age of 6. Despite inadequate metabolic control he did not develop any diabetic microvascular complications during the 10-year follow-up period. To further investigate potential causes for this metabolic idiosyncrasy, we performed genetic analyses that revealed a novel combination of homozygous sequence variants that are likely the cause of the syndrome in this family. The identified genotype included a novel sequence variant in the Wolfram syndrome type 1 gene along with a previously described one, which had initially been associated with isolated low frequency sensorineural hearing loss (LFSNHL). Interestingly, our patient did not show any abnormal findings with audiometry testing. PMID:26819810

  10. 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

  11. 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

  12. 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)

  13. REVIEW OF MATHEMATICAL METHODS AND ALGORITHMS OF MEDICAL IMAGE PROCESSING ON THE EXAMPLE OF TECHNOLOGY OF MEDICAL IMAGE PROCESSING FROM WOLFRAM MATHEMATICS

    Directory of Open Access Journals (Sweden)

    O. Ye. Prokopchenko

    2015-10-01

    Full Text Available The article analyzes the basic methods and algorithms of mathematical processing of medical images as objects of computer mathematics. The presented methods and computer algorithms of mathematics relevant and may find application in the field of medical imaging - automated processing of images; as a tool for measurement and determination the optical parameters; identification and formation of medical images database. Methods and computer algorithms presented in the article and based on Wolfram Mathematica are also relevant to the problem of modern medical education. As an example of Wolfram Mathematics may be considered appropriate demonstration, such as recognition of special radiographs and morphological imaging. These methods are used to improve  the diagnostic significance and value of medical (clinical research and can serve as an educational interactive demonstration. Implementation submitted individual methods and algorithms of computer Wolfram Mathematics contributes, in general, the optimization process of practical processing and presentation of medical images.

  14. REVIEW OF MATHEMATICAL METHODS AND ALGORITHMS OF MEDICAL IMAGE PROCESSING ON THE EXAMPLE OF TECHNOLOGY OF MEDICAL IMAGE PROCESSING FROM WOLFRAM MATHEMATICA

    Directory of Open Access Journals (Sweden)

    О. E. Prokopchenko

    2015-09-01

    Full Text Available The article analyzes the basic methods and algorithms of mathematical processing of medical images as objects of computer mathematics. The presented methods and computer algorithms of mathematics relevant and may find application in the field of medical imaging - automated processing of images; as a tool for measurement and determination the optical parameters; identification and formation of medical images database. Methods and computer algorithms presented in the article & based on Wolfram Mathematica are also relevant to the problem of modern medical education. As an example of Wolfram Mathematica may be considered appropriate demonstration, such as recognition of special radiographs and morphological imaging. These methods are used to improve the diagnostic significance and value of medical (clinical research and can serve as an educational interactive demonstration. Implementation submitted individual methods and algorithms of computer Wolfram Mathematics contributes, in general, the optimization process of practical processing and presentation of medical images.

  15. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Mezghani, Najla [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Mnif, Mouna [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Mkaouar-Rebai, Emna, E-mail: emna_mkaouar@mail2world.com [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Kallel, Nozha [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Salem, Ikhlass Haj [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Charfi, Nadia; Abid, Mohamed [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Fakhfakh, Faiza [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)

    2011-07-29

    Highlights: {yields} We reported a patient with Wolfram syndrome and dilated cardiomyopathy. {yields} We detected the ND1 mitochondrial m.3337G>A mutation in 3 tested tissues (blood leukocytes, buccal mucosa and skeletal muscle). {yields} Long-range PCR amplification revealed the presence of multiple mitochondrial deletions in the skeletal muscle. {yields} The deletions remove several tRNA and protein-coding genes. -- Abstract: Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions.

  16. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy

    International Nuclear Information System (INIS)

    Mezghani, Najla; Mnif, Mouna; Mkaouar-Rebai, Emna; Kallel, Nozha; Salem, Ikhlass Haj; Charfi, Nadia; Abid, Mohamed; Fakhfakh, Faiza

    2011-01-01

    Highlights: → We reported a patient with Wolfram syndrome and dilated cardiomyopathy. → We detected the ND1 mitochondrial m.3337G>A mutation in 3 tested tissues (blood leukocytes, buccal mucosa and skeletal muscle). → Long-range PCR amplification revealed the presence of multiple mitochondrial deletions in the skeletal muscle. → The deletions remove several tRNA and protein-coding genes. -- Abstract: Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions.

  17. Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.

    Science.gov (United States)

    Bodoor, Khaldon; Batiha, Osama; Abu-Awad, Ayman; Al-Sarihin, Khaldon; Ziad, Haya; Jarun, Yousef; Abu-Sheikha, Aya; Abu Jalboush, Sara; Alibrahim, Khoulod S

    2016-09-01

    Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterized by the presentation of early onset type I diabetes mellitus and optic atrophy with later onset diabetes insipidus and deafness. WFS1 gene was identified on chromosome 4p16.1 as the gene responsible for WS disease given that most of the WS patients were found to carry mutations in this gene. This study was carried out to investigate the molecular spectrum of WFS1 gene in Jordanian families. Molecular and clinical characterization was performed on five WS patients from two unrelated Jordanian families. Our data indicated that WS patients of the first family harbored two deletion mutations (V415del and F247fs) located in exon 8 and exon 7 respectively, with a compound heterozygous pattern of inheritance; while in the second family, we identified a novel nonsense mutation (W185X) located in exon 5 in the N-terminal cytoplasmic domain with a homozygous pattern of inheritance. This mutation can be considered as loss of function mutation since the resulting truncated protein lost both the transmembrane domain and the C-terminal domain. Additionally, the W185X mutation lies within the CaM binding domain in wolframin protein which is thought to have a role in the regulation of wolframin function in response to calcium levels.

  18. Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.

    Science.gov (United States)

    Duan, Lian; Li, Qian; Tong, An-Li; Mao, Jiang-Feng; Yu, Miao; Yuan, Tao; Chai, Xiao-Feng; Gu, Feng

    2018-01-01

    Wolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA). We aim to characterize clinical features in Chinese patients who had been poorly studied until now. We performed a retrospective review of patients with WS seen in the Peking Union Medical College Hospital from 2002 to 2017. Data including demographic data, clinical presentations, examination results, family history, and genetic analysis were described. Six patients with WS were identified, meeting the diagnostic criteria of the coincidence of DM and OA before 15 years old or the existence of two WFS1 mutations. All were male, with the median age of 14.5 years (range 10-19 years). Blood glucose impairment, OA, and diabetes insipidus were present in all (100%), hearing impairment in four (66.7%), urological abnormalities in four (66.7%), neurological abnormalities in one (16.7%), and endocrine disorder in one (16.7%). Rare presentation includes cataract, glaucoma, and spina bifida occulta. Diabetes was insulin-dependent and not ketosis onset, with antibody to glutamic acid decarboxylase and islet cell negative. Genetic analysis revealed mutations in WFS1 in three patients. A novel frameshift mutation (p.Asp151Glufs*93) was identified in exon 4 of WFS1 . Our series of WS patients indicated that WS is a degenerative disease with a wide and variable spectrum, characterized by ear non-autoimmune DM and bilateral OA. Genetic analysis is recommended when suspected of WS.

  19. Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice.

    Science.gov (United States)

    Porosk, Rando; Terasmaa, Anton; Mahlapuu, Riina; Soomets, Ursel; Kilk, Kalle

    2017-12-01

    Wolfram syndrome 1 is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Mutations in the WFS1 gene encoding the wolframin glycoprotein can lead to endoplasmic reticulum stress and unfolded protein responses in cells, but the pathophysiology at whole organism level is poorly understood. In this study, several organs (heart, liver, kidneys, and pancreas) and bodily fluids (trunk blood and urine) of 2- and 6-month old Wfs1 knockout (KO), heterozygote (HZ), and wild-type (WT) mice were analyzed by untargeted and targeted metabolomics using liquid chromatography-mass spectrometry. The key findings were significant perturbations in the metabolism of pancreas and heart before the onset of related clinical signs such as glycosuria that precedes hyperglycemia and thus implies a kidney dysfunction before the onset of classical diabetic nephropathy. The glucose use and gluconeogenesis in KO mice are intensified in early stages, but later the energetic needs are mainly covered by lipolysis. Furthermore, in young mice liver and trunk blood hypouricemia, which in time turns to hyperuricemia, was detected. In summary, we show that the metabolism in Wfs1-deficient mice markedly differs from the metabolism of WT mice in many aspects and discuss the future biological and clinical relevance of these observations.

  20. Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss.

    Science.gov (United States)

    Ross-Cisneros, Fred N; Pan, Billy X; Silva, Ruwan A; Miller, Neil R; Albini, Thomas A; Tranebjaerg, Lisbeth; Rendtorff, Nanna D; Lodahl, Marianne; Moraes-Filho, Milton N; Moraes, Milton N; Salomao, Solange R; Berezovsky, Adriana; Belfort, Rubens; Carelli, Valerio; Sadun, Alfredo A

    2013-11-01

    Mitochondrial dysfunction in Wolfram Syndrome (WS) is controversial and optic neuropathy, a cardinal clinical manifestation, is poorly characterized. We here describe the histopathological features in postmortem retinas and optic nerves (ONs) from one patient with WS, testing the hypothesis that mitochondrial dysfunction underlies the pathology. Eyes and retrobulbar ONs were obtained at autopsy from a WS patient, and compared with those of a Leber hereditary optic neuropathy (LHON) patient and one healthy control. Retinas were stained with hematoxylin & eosin for general morphology and ONs were immunostained for myelin basic protein (MBP). Immunostained ONs were examined in four "quadrants": superior, inferior, nasal, and temporal. The WS retinas displayed a severe loss of retinal ganglion cells in the macular region similar to the LHON retina, but not in the control. The WS ONs, immunostained for MBP, revealed a zone of degeneration in the temporal and inferior quadrants. This pattern was similar to that seen in the LHON ONs but not in the control. Thus, the WS patient displayed a distinct pattern of optic atrophy observed bilaterally in the temporal and inferior quadrants of the ONs. This arrangement of axonal degeneration, involving primarily the papillomacular bundle, closely resembled LHON and other mitochondrial optic neuropathies, supporting that mitochondrial dysfunction underlies its pathogenesis. Copyright © 2013 Elsevier B.V. All rights reserved.

  1. Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome.

    Science.gov (United States)

    Xavier, Jean; Bourvis, Nadège; Tanet, Antoine; Ramos, Tatiana; Perisse, Didier; Marey, Isabelle; Cohen, David; Consoli, Angèle

    2016-10-01

    Wolfram syndrome (WS, MIM 222300) is a rare autosomal, recessive neurodegenerative disorder associated with mutations in WFS1, a gene that has been associated with bipolar disorder (BD). WS, characterized by the association of juvenile-onset diabetes mellitus (DM) and bilateral progressive optic atrophy (BPOA), encompasses several other clinical features, including cognitive impairments and psychiatric disorders. Detailed data on the psychiatric phenotype are still scarce, and how WS relates to BD is still unknown. A 17-year-old girl with WS was hospitalized for early-onset BD. A multidisciplinary and developmental assessment was carried out to control mood symptoms and address how BD could be related to WS. Besides DM and BPOA, the patient had several risk factors for BD/mood disorders as follows: (1) a history of abuse and maltreatment; (2) a history of specific language disorder and borderline intelligence associated with academic failure; and (3) a comorbid hypothyroidism. Treatment encompassed all aspects of the adolescent's conditions, such as the use of mood stabilizers, addressing psychosocial and scholastic problems, and treating hypothyroid dysfunction. Given the complexity of WS, this case suggests that the possible association between WS and BD should not only be merely limited to a possible statistical association with WFS1 polymorphism but also to developmental, cognitive, and endocrine risk factors for BD.

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

    Science.gov (United States)

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

    2012-01-01

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

  3. Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome.

    Science.gov (United States)

    Zmyslowska, Agnieszka; Ciborowski, Michal; Borowiec, Maciej; Fendler, Wojciech; Pietrowska, Karolina; Parfieniuk, Ewa; Antosik, Karolina; Pyziak, Aleksandra; Waszczykowska, Arleta; Kretowski, Adam; Mlynarski, Wojciech

    2017-11-03

    Wolfram syndrome (WFS) is an example of a rare neurodegenerative disease with coexisting endocrine symptoms including diabetes mellitus as the first clinical symptom. Treatment of WFS is still only symptomatic and associated with poor prognosis. Potential markers of disease progression that could be useful for possible intervention trials are not available. Metabolomics has potential to identify such markers. In the present study, serum fingerprinting by LC-QTOF-MS was performed in patients with WFS (n = 13) and in patients with T1D (n = 27). On the basis of the obtained results, aminoheptadecanediol (17:0 sphinganine isomer) (+50%, p = 0.02), as the most discriminatory metabolite, was selected for validation. The 17:0 sphinganine isomer level was determined using the LC-QQQ method in the samples from WFS patients at two time points and compared with samples obtained from patients with T1D (n = 24) and healthy controls (n = 24). Validation analysis showed higher 17:0 sphinganine isomer level in patients with WFS compared to patients with T1D (p = 0.0097) and control group (p < 0.0001) with progressive reduction of its level after two-year follow-up period. Patients with WFS show a unique serum metabolic fingerprint, differentiating them from patients with T1D. Sphinganine derivate seems to be a marker of the ongoing process of neurodegeneration in WFS patients.

  4. Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report.

    Science.gov (United States)

    Catalano, Antonino; Bellone, Federica; Cicala, Giuseppe; Giandalia, Annalisa; Morabito, Nunziata; Cucinotta, Domenico; Russo, Giuseppina Tiziana

    2017-01-01

    Wolfram Syndrome (WS) is a rare and lethal disease characterized by optic atrophy, diabetes mellitus, diabetes insipidus, and hearing loss. To date, osteoporotic related fractures have not been reported in affected patients. Here, we describe the case of a man affected by WS complicated by several bone fragility fractures. A 50-year-old Caucasian man was hospitalized because of tibia and fibula fractures. His clinical features included diabetes mellitus, diabetes insipidus, optic atrophy and deafness that were consistent with an unrecognized WS diagnosis, which was confirmed by the identification of a specific mutation in gene WFS1 encoding wolframin. Bone mineral density by phalangeal quantitative ultrasound demonstrated severe osteoporosis, with high serum levels of surrogate markers of bone turn-over. Previously unidentified rib fractures were also detected. To the best of our knowledge, this is the first report of osteoporotic related fractures in a patient affected by WS. Although no effective treatments are currently available to delay the progression of the disease, this case report suggests to evaluate fracture risk in the diagnostic work-up of WS.

  5. [An evaluation of HLA class 2 alleles and anti-islet antibodies as evidence for non-autoimmune diabetes in Wolfram syndrome].

    Science.gov (United States)

    Zmysłowska, Agnieszka; Borowiec, Maciej; Antosik, Karolina; Wyka, Krystyna; Cieślik-Heinrich, Agnieszka; Klich, Izabela; Młynarski, Wojciech

    2010-01-01

    A clinical criterion of the Wolfram syndrome is the coexistence of diabetes and optic atrophy recognized before the age of 15. Diabetes present in Wolfram syndrome is a result of the selective β cell loss and failed insulin secretion which is probably associated with non-autoimmune pathogenesis. The aim of the study was an evaluation of HLA subtypes and presence of β-cell autoantibodies in patients with molecularly confirmed Wolfram syndrome. 9 patients with Wolfram syndrome aged 10-24 years were examined. We also studied 218 patients with type 1 diabetes as a reference group. A control group of 176 healthy individuals was included in the study. Besides the clinical assessment the HLA typing by PCR-SSO was performed. Islet cell antibodies (ICA), antibodies to glutamic acid decarboxylase (GADA), thyrosine phosphatase antibodies (IA2A) and insulin antibodies (IAA) were also detected. In all nine patients the coexistence of diabetes with optic atrophy was observed and in 8/9 individuals additional symptoms were recognized. In patients with Wolfram syndrome a significantly lower age of diagnosis of diabetes (Me=5.0 years) than in type 1 diabetic children (Me=10.4; p=0.002) was observed. Studies of HLA subtypes demonstrated an increased prevalence of HLA-DQw1, DRB1⋅03 and/or 04 and DR2. A comparison of the frequency of the HLA alleles in patients with Wolfram syndrome with type 1 diabetic children showed a more frequent presence of the DRB1⋅1501 (p=0.03; OR=13.28 (2.44-72.12)) and DQB1⋅06 (p=0.016; OR=10.15 (2.49-41.35)) alleles in patients with Wolfram syndrome. Polish patients with Wolfram syndrome have a different profile of the HLA antigens with the presence of DR2, DQw1 and DRB3/4 allele and are negative for diabetes-related autoantibodies, which may confirm non-autoimmune β-cell destruction in this syndrome.

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

    Science.gov (United States)

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

    2017-01-01

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

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

    Science.gov (United States)

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

    2017-07-01

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

  8. The Presence of Periodic Limb Movement Disorder in a Patient with Diabetes Mellitus and Optic Atrophy (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Bo Seong Kwon

    2014-12-01

    Full Text Available Wolfram syndrome (WFS is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD, together known as DIDMOAD. This syndrome is a rare autosomal recessive neurodegenerative disorder and typically begins wtih insulin-dependent diabetes mellitus. Periodic limb movement disorder (PLMD is characterized by periodic episodes of repetitive, highly stereotyped, limb movement during sleep, which results in disturbed sleep. Its pathophysiology is unclear. It is associated with many conditions, but we were unable to find a previous report regarding WFS accompanied by PLMD. We therefore report, for the first time, about a patient with WFS presenting with PLMD and discuss its pathomechanism with a literature review.

  9. 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.

  10. Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1

    Directory of Open Access Journals (Sweden)

    Lian Duan

    2018-02-01

    Full Text Available ObjectiveWolfram syndrome (WS is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM and optic atrophy (OA. We aim to characterize clinical features in Chinese patients who had been poorly studied until now.MethodsWe performed a retrospective review of patients with WS seen in the Peking Union Medical College Hospital from 2002 to 2017. Data including demographic data, clinical presentations, examination results, family history, and genetic analysis were described.ResultsSix patients with WS were identified, meeting the diagnostic criteria of the coincidence of DM and OA before 15 years old or the existence of two WFS1 mutations. All were male, with the median age of 14.5 years (range 10–19 years. Blood glucose impairment, OA, and diabetes insipidus were present in all (100%, hearing impairment in four (66.7%, urological abnormalities in four (66.7%, neurological abnormalities in one (16.7%, and endocrine disorder in one (16.7%. Rare presentation includes cataract, glaucoma, and spina bifida occulta. Diabetes was insulin-dependent and not ketosis onset, with antibody to glutamic acid decarboxylase and islet cell negative. Genetic analysis revealed mutations in WFS1 in three patients. A novel frameshift mutation (p.Asp151Glufs*93 was identified in exon 4 of WFS1.ConclusionOur series of WS patients indicated that WS is a degenerative disease with a wide and variable spectrum, characterized by ear non-autoimmune DM and bilateral OA. Genetic analysis is recommended when suspected of WS.

  11. Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior.

    Science.gov (United States)

    Sequeira, Adolfo; Kim, Caroline; Seguin, Monique; Lesage, Alain; Chawky, Nadia; Desautels, Alex; Tousignant, Michel; Vanier, Claude; Lipp, Olivier; Benkelfat, Chawki; Rouleau, Guy; Turecki, Gustavo

    2003-05-15

    There is evidence suggesting that subjects affected with the Wolfram syndrome (WFS) and normal carriers present an increased risk of psychiatric disorders, particularly depression and suicidal behavior. We investigated a possible role of the gene involved in WFS (WFS1) in the neurobiology of suicide and the potential modulatory effect on traits associated to suicidal behavior. Genetic variation at WFS1 (H611R, R456H, and I333V) was investigated in 111 suicide victims and 129 normal controls. Possible effects on psychopathology and behavioral traits were investigated in a subsample of suicide cases (N = 31) for whom phenotyping was carried out by means of structured psychiatric interviews and questionnaires adapted for psychological autopsies. We found a significantly higher frequency of the 611R/611R genotype in suicide completers as compared to controls (chi(2) = 19.21, df=2, P = 0.001). Suicide completers with this genotype had higher scores on measures of impulsivity (t = -3.15, df = 15.3, P = 0.006); novelty seeking (NS) (t = -3.35, df = 13.8, P = 0.005); and conversely, lower scores of persistence (t = 2.4, df = 16.6, P = 0.028). Scores of impulsivity and NS remained higher in subjects with the associated genotype after adjusting for age, gender, and psychopathology. These results suggest a role for WFS1 in the pathophysiology of impulsive suicide, and are consistent with previous clinical reports suggesting an increased risk of suicidal behavior in WFS homozygotes and heterozygotes. However, these findings are preliminary and should be confirmed in independent samples. Copyright 2003 Wiley-Liss, Inc.

  12. Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome.

    Science.gov (United States)

    Zmyslowska, Agnieszka; Fendler, Wojciech; Waszczykowska, Arleta; Niwald, Anna; Borowiec, Maciej; Jurowski, Piotr; Mlynarski, Wojciech

    2017-11-01

    Wolfram syndrome (WFS) is a recessively inherited monogenic form of diabetes coexisting with optic atrophy and neurodegenerative disorders with no currently recognized markers of disease progression. The aim of the study was to evaluate retinal parameters by using optical coherence tomography (OCT) in WFS patients after 2 years of follow-up and analysis of the parameters in relation to visual acuity. OCT parameters and visual acuity were measured in 12 WFS patients and 31 individuals with type 1 diabetes. Total thickness of the retinal nerve fiber layer (RNFL), average retinal thickness and total retinal volume decreased in comparison with previous OCT examination. Significant decreases were noted for RNFL (average difference -17.92 µm 95% CI -30.74 to -0.10; p = 0.0157), macular average thickness (average difference -5.38 µm 95% CI -10.63 to -2.36; p = 0.0067) and total retinal volume (average difference -0.15 mm 3 95% CI -0.30 to -0.07; p = 0.0070). Central thickness remained unchanged (average difference 1.5 µm 95% CI -7.61 to 10.61; p = 0.71). Visual acuity of WFS patients showed a strong negative correlation with diabetes duration (R = -0.82; p = 0.0010). After division of WFS patients into two groups (with low-vision and blind patients), all OCT parameters except for the RNFL value were lower in blind WFS patients. OCT measures structural parameters and can precede visual acuity loss. The OCT study in WFS patients should be performed longitudinally, and serial retinal examinations may be helpful as a potential end point for future clinical trials.

  13. Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression.

    Science.gov (United States)

    Hoekel, James; Narayanan, Anagha; Rutlin, Jerrel; Lugar, Heather; Al-Lozi, Amal; Hershey, Tamara; Tychsen, Lawrence

    2018-01-01

    To report alterations in visual acuity and visual pathway structure over an interval of 1-3 years in a cohort of children, adolescents and young adults who have Wolfram syndrome (WFS) and to describe the range of disease severity evident in patients with WFS whose ages differed by as much as 20 years at first examination. Annual, prospective ophthalmological examinations were performed in conjunction with retinal nerve fibre layer (RNFL) analysis. Diffusion tensor MRI-derived fractional anisotropy was used to assess the microstructural integrity of the optic radiations (OR FA). Mean age of the 23 patients with WFS in the study was 13.8 years (range 5-25 years). Mean log minimum angle resolution visual acuity was 0.66 (20/91). RNFL thickness was subnormal in even the youngest patients with WFS. Average RNFL thickness in patients with WFS was 57±8 µ or ~40% thinner than that measured in normal (94±10 µ) children and adolescents (P<0.01). Lower OR FA correlated with worse visual acuity (P=0.006). Subsequent examinations showed declines (P<0.05) in visual acuity, RNFL thickness and OR FA at follow-up intervals of 12-36 months. However, a wide range of disease severity was evident across ages: some of the youngest patients at their first examination had deficits more severe than the oldest patients. The genetic mutation of WFS causes damage to both pregeniculate and postgeniculate regions of the visual pathway. The damage is progressive. The decline in visual pathway structure is accompanied by declines of visual function. Disease severity differs widely in individual patients and cannot be predicted from their age.

  14. Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications.

    Science.gov (United States)

    Zmyslowska, A; Borowiec, M; Fichna, P; Iwaniszewska, B; Majkowska, L; Pietrzak, I; Szalecki, M; Szypowska, A; Mlynarski, W

    2014-01-01

    Improvements in diagnostic methods and greater genetic awareness have brought remarkable progress in the recognition of monogenic forms of diabetes, including Wolfram syndrome (WFS). WFS is diagnosed based on clinical criteria of coexistence of diabetes mellitus and optic atrophy, and confirmed by molecular analysis; however, the condition is still sometimes misdiagnosed. To begin to understand the reasons for misdiagnosis, we conducted a retrospective analysis of WFS patients who were originally misdiagnosed. The medical histories of 13 pediatric patients with clinical misdiagnosis of type 1 diabetes and early chronic complications made in the years 1995-2010 and who were subsequently correctly diagnosed with WFS based on genetic testing in 2008-2011 were analyzed. The average age of the patients at diabetes onset was 5 (4.4-6.3) years, and the mean HbA1c level at diagnosis was 9.1±2.3%. Initially, all of these patients were treated as having type 1 diabetes with progressive visual impairment despite good metabolic control (mean HbA1c 7.5±1.3%). Diagnosis of optic atrophy was made at an average age of 9 (5.9-11.5) years, which corresponds to 4 years after diabetes recognition (p=0.002). At the time of genetic analysis, the average age of the patients was 16 (12-18.7) years, which corresponds to 7 years after recognition of coexistence of diabetes mellitus and optic atrophy (p=0.007). Delays of at least 7 years occurred before recognition of WFS among a cohort of pediatric patients with diabetes. All patients with WFS were primarily misdiagnosed as having type 1 diabetes. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

  15. False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome--is it the reason for the low number of reported cases of this abnormality?

    Science.gov (United States)

    Homa, Katarzyna; Stefański, Adam; Zmysłowska, Agnieszka; Molęda, Piotr; Bryśkiewicz, Marta Ewa; Majkowska, Liliana

    2014-01-01

    Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy. WS is caused mainly by biallelic mutations in the WFS1 gene, which encodes wolframin. Wide tissue distribution of wolframin and many mutations in the wolframin gene resulting in Wolfram syndrome may contribute to different phenotypes and the unusual combinations of clinical features. We describe a female patient with Wolfram syndrome diagnosed at the age of 25, with a previous false diagnosis of type 1 diabetes mellitus and misdiagnosed diabetic complications. The patient was found to be a compound heterozygote for two novel mutations in exon 8 of WFS1 gene: a 2-bp deletion AT at nt 1539 leading to a frameshift (Y513fs) and a single-base substitution 1174C > T resulting in a stop codon (Q392X). A detailed analysis of the patient's medical history and a review of the literature suggest that many cases of Wolfram syndrome may remain undiagnosed due to misdiagnosis as type 1 diabetes mellitus and incorrect interpretation of clinical symptoms of neurodegenerative abnormalities, especially in their early stages.

  16. The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2

    NARCIS (Netherlands)

    Gabreëls, B. A.; Swaab, D. F.; de Kleijn, D. P.; Dean, A.; Seidah, N. G.; van de Loo, J. W.; van de Ven, W. J.; Martens, G. J.; van Leeuwen, F. W.

    1998-01-01

    Wolfram syndrome (WS) is characterized by optic atrophy, insulin-dependent diabetes mellitus, vasopressin (VP)-sensitive diabetes insipidus, and neurosensory hearing loss. Here we report a disturbance in VP precursor processing in the supraoptic and paraventricular nuclei of WS patients. In these

  17. A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.

    Science.gov (United States)

    Langwińska-Wośko, Ewa; Broniek-Kowalik, Karina; Szulborski, Kamil

    2012-04-01

    Wolfram syndrome (WFS), or DIDMOAD, is a rare (1/100 000 to 1/770 000), progressive neurodegenerative disorder. In its early stages, it is characterized by insulin-dependent diabetes mellitus, optic atrophy and loss of sensorineural hearing-this is followed by diabetes insipidus, progressive neurological abnormalities and other endocrine abnormalities, which occur in later years. The aim of this study was to report on the clinical and electrophysiological findings from a family with the WFS1 mutation. The five family members were subjected to a complete ophthalmic examination, which included a flash full-field electroretinogram and pattern-reversal visual evoked potentials (PVEPs) performed according to ISCEV standards. Optic atrophy was confirmed in two homozygotic patients, where P100 latencies were significantly delayed-up to 146 ms in PVEP. P100 latencies were normal in the three heterozygotic patients we examined. Curve morphology abnormalities were observed in all five patients we examined. No literature describing the morphology of PVEP in Wolfram syndrome patients was found. In flash electroretinography, scotopic and photopic responses appeared in normal morphology and value. Diabetic retinopathy was not observed in the diabetes mellitus patients.

  18. Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

    Science.gov (United States)

    Ghirardello, Stefano; Dusi, Elisa; Castiglione, Bianca; Fumagalli, Monica; Mosca, Fabio

    2014-09-26

    Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D). The phenotype of the disease has been associated with several mutations in the WFS1 gene, a nuclear gene localized on chromosome 4. Since the discovery of the association between WFS1 gene and Wolfram syndrome, more than 150 mutations have been identified in WS patients. We previously described the first case of perinatal onset of Wolfram syndrome newborn carrying a segmental uniparental heterodysomy affecting the short arm of chromosome 4 responsible for a significant reduction in wolframin expression. Here we review and discuss the pathophysiological mechanisms that we believe responsible for the perinatal onset of Wolfram syndrome as these data strongly suggest a role for WFS1 gene in foetal and neonatal neurodevelopment. We described a male patient of 30 weeks' gestation with intrauterine growth restriction and poly-hydramnios. During the first days of life, the patient showed a 19% weight loss associated with polyuria and hypernatremia. The presence of persistent hypernatremia (serum sodium 150 mEq/L), high plasma osmolarity (322 mOsm/L) and low urine osmolarity (190 mOsm/l) with a Uosm/Posm ratio diabetes mellitus. By the end of the second year of life, primary non-autoimmune central hypothyroidism and mild neurodevelopment retardation were diagnosed. The analysis of our case, in the light of the most recent literature, suggests a possible role for WFS1 gene in the development of certain brain structures during the fetal period. Wolfram syndrome should be considered in the differential diagnosis of the rare cases of congenital central diabetes insipidus developed in the neonatal period.

  19. Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.

    Directory of Open Access Journals (Sweden)

    Agnieszka Zmyslowska

    Full Text Available Wolfram syndrome (WFS is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. However, various neurological defects may also be detected. The aim of this study was to evaluate aspects of brain structure and function using PET-CT (positron emission tomography and computed tomography and MRI (magnetic resonance imaging in pediatric patients with WFS. Regional changes in brain glucose metabolism were measured using standardized uptake values (SUVs based on images of (18F fluorodeoxyglucose (FDG uptake in 7 WFS patients aged 10.1-16.0 years (mean 12.9±2.4 and in 20 healthy children aged 3-17.9 years (mean 12.8±4.1. In all patients the diagnosis of WFS was confirmed by DNA sequencing of the WFS1 gene. Hierarchical clustering showed remarkable similarities of glucose uptake patterns among WFS patients and their differences from the control group. SUV data were subsequently standardized for age groups 13 years old to account for developmental differences. Reduced SUVs in WFS patients as compared to the control group for the bilateral brain regions such as occipital lobe (-1.24±1.20 vs. -0.13±1.05; p = 0.028 and cerebellum (-1.11±0.69 vs. -0.204±1.00; p = 0.036 were observed and the same tendency for cingulate (-1.13±1.05 vs. -0.15±1.12; p = 0.056, temporal lobe (-1.10±0.98 vs. -0.15±1.10; p = 0.057, parietal lobe (-1.06±1.20 vs. -0.08±1.08; p = 0.058, central region (-1.01±1.04 vs. -0.09±1.06; p = 0.060, basal ganglia (-1.05±0.74 vs. -0.20±1.07; p = 0.066 and mesial temporal lobe (-1.06±0.82 vs. -0.26±1.08; p = 0.087 was also noticed. After adjusting for multiple hypothesis testing, the differences in glucose uptake were non-significant. For the first time, regional differences in brain glucose metabolism among patients with WFS were shown using PET-CT imaging.

  20. A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.

    Science.gov (United States)

    Elli, Francesca M; Ghirardello, Stefano; Giavoli, Claudia; Gangi, Silvana; Dioni, Laura; Crippa, Milena; Finelli, Palma; Bergamaschi, Silvia; Mosca, Fabio; Spada, Anna; Beck-Peccoz, Paolo

    2012-11-01

    Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus (DI), insulin-dependent diabetes mellitus (DM), optic atrophy (OA) and deafness caused by mutations in WFS1 gene (4p16.1), which encodes an endoplasmic reticulum protein, called Wolframin. We describe the case of an infant who presented hypernatremia and severe hypoplasia of the left eyeball with alteration of visual evoked potentials. Persistent hypernatremia, iposmolar polyuria and high plasma osmolality suggested DI, confirmed by a normal urine concentration after vasopressin test. Treatment with vasopressin allowed a normalization of sodium levels and urine output. Brain magnetic resonance imaging showed absence of the neurohypophysis hyperintense signal, normal adenohypophysis and optic tracts hypoplasia. The concomitant presence of DI and OA, even in the absence of DM and deafness, prompted the suspicion of WS and complete genetic analysis was performed. Genomic DNA sequencing of WFS1 showed no inactivating mutations described to date, but suggested a structural mutation as markers genotyping revealed a segmental paternal heterodisomy involving the upstream regulatory region (promoter and 5'UTR). cDNA sequencing revealed the coexistence of the wild-type transcript and two splice variants; one variant, probably benign, is known in literature and the other one causes the loss of exon 2, containing the translation initiation site. Western blot confirmed a marked protein reduction. During the clinical follow-up child's condition remained stable and glucose metabolism is still in the standard. In conclusion, the phenotype associated with this structural rearrangement, which substantially reduces the synthesis of Wolframin, confirms a tissue-specific pattern of expression of WFS1, suggests the presence of a different protein dosage sensitivity in different tissues and could be causative of DI and OA in our patient. The "incomplete" phenotype here described, usually

  1. Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes.

    Science.gov (United States)

    Zmyslowska, A; Fendler, W; Szadkowska, A; Borowiec, M; Mysliwiec, M; Baranowska-Jazwiecka, A; Buraczewska, M; Fulmanska-Anders, M; Mianowska, B; Pietrzak, I; Rzeznik, D; Mlynarski, W

    2015-12-01

    Wolfram syndrome (WFS) is diagnosed as coexistence of diabetes mellitus and optic atrophy, where pancreatic beta cell destruction is associated with neurodegeneration. Typically, WFS necessitates insulin treatment similar to type 1 diabetes (T1D), but the mechanism of beta cell mass reduction leading to hyperglycemia is different. The aim of the study was to assess glycemic variability using the continuous glucose monitoring (CGM) system in seven pediatric patients with genetically confirmed WFS and compare the results with data obtained from 21 propensity score-matched patients with T1D. The "GlyCulator" application was used for the calculation of glycemic variability indices. CGM recordings showed similarities in glycemic variability among WFS patients, but differing from those of the T1D group. Coefficient of variation (%CV), CONGA4h, and GONGA6h were significantly (p < 0.05) lower in WFS patients (28.08 ± 7.37, 54.96 ± 11.92, and 55.99 ± 10.58) than in T1D patients (37.87 ± 14.24, 74.12 ± 28.74, p = 0.02, and 80.26 ± 35.05, respectively). In WFS patients, the percentage of values above 126 mg/dL was 69.79 (52.08-77.43), whereas in patients with T1D, the percentage was significantly lower-47.22 (35.07-62.85, p = 0.018). Curiously, a tendency toward a lower percentage of measurements below 70 mg/dL was noted in the WFS group [0 (0-7.29)] in comparison with the T1D group [6.25 (0-18.06), p = 0.122]. WFS patients had a significantly higher C-peptide level (0.31 ± 0.2 ng/mL) than T1D patients (0.04 ± 0.04 ng/mL; p = 0.006). Patients with WFS show smaller glycemic variability than individuals with T1D, and this may be associated with persistent residual insulin secretion.

  2. 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.)

  3. 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.

  4. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder.

    Science.gov (United States)

    Evans, K L; Lawson, D; Meitinger, T; Blackwood, D H; Porteous, D J

    2000-04-03

    Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component. Heterozygous carriers of Wolfram syndrome (WFS) are at increased risk of psychiatric illness. A gene for WFS (WFS1) has recently been cloned and mapped to chromosome 4p, in the general region we previously reported as showing linkage to BPAD. Here we present sequence analysis of the WFS1 coding sequence in five affected individuals from two chromosome 4p-linked families. This resulted in the identification of six polymorphisms, two of which are predicted to change the amino acid sequence of the WFS1 protein, however none of the changes segregated with disease status. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:158-160, 2000. Copyright 2000 Wiley-Liss, Inc.

  5. 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.

  6. Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.

    Science.gov (United States)

    Blanco-Aguirre, Maria E; la Parra, David Rivera-De; Tapia-Garcia, Hugo; Gonzalez-Rodriguez, Johanna; Welschen, Daniela; Welskin, Daniela; Arroyo-Yllanes, Maria Estela; Escudero, Irineo; Nuñez-Hernandez, Jorge A; Medina-Bravo, Patricia; Zenteno, Juan C

    2015-07-15

    Wolfram syndrome (WS) is a severe autosomal recessive pleiotropic disease primarily characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. Earlier reports have shown that a proportion of WS cases may remain unrecognized due to misdiagnosis as type 1 diabetes mellitus (T1DM). The objectives of this work were to estimate the prevalence of patients fulfilling clinical criteria for WS in a cohort of subjects diagnosed as T1DM and to identify causal WFS1 gene mutations in those individuals meeting clinical criteria for the disease. A cohort of 131 unrelated Mexican T1DM patients was collected, including 77 females and 54 males. Additional clinical anomalies suggesting WS were identified through review of medical files, detailed physical examination and/or specialized tests. WFS1 gene analysis was performed using exon-by-exon PCR amplification and direct Sanger sequencing on genomic DNA from patients reaching WS clinical criteria. Clinical criteria for a WS diagnosis were reached in 6 probands, corresponding to a 4.58% frequency of the disease. WFS1 mutations were identified in 4 out of 5 (80%) individuals fulfilling WS clinical criteria, including two homozygous, one compound heterozygous, and one patient with a single allele mutation. No WFS1 mutations were identified in the remaining subject. In our cohort, approximately 6% of cases diagnosed as T1DM were in fact patients with Wolfram syndrome. WFS1 mutations were identified in 4 out of 5 individuals (80%) fulfilling clinical criteria for WS. Clinical and genetic analyses of large cohorts of T1DM patients from different ethnic origins would help to better estimate the occurrence of WS and will lead to a better management of such patients. Copyright © 2015 Elsevier B.V. All rights reserved.

  7. Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells.

    Science.gov (United States)

    Hatanaka, Masayuki; Tanabe, Katsuya; Yanai, Akie; Ohta, Yasuharu; Kondo, Manabu; Akiyama, Masaru; Shinoda, Koh; Oka, Yoshitomo; Tanizawa, Yukio

    2011-04-01

    Wolfram syndrome is an autosomal recessive disorder characterized by juvenile-onset insulin-dependent diabetes mellitus and optic atrophy. The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER) resident transmembrane protein. The Wfs1-null mouse exhibits progressive insulin deficiency causing diabetes. Previous work suggested that the function of the WFS1 protein is connected to unfolded protein response and to intracellular Ca(2+) homeostasis. However, its precise molecular function in pancreatic β-cells remains elusive. In our present study, immunofluorescent and electron-microscopic analyses revealed that WFS1 localizes not only to ER but also to secretory granules in pancreatic β-cells. Intragranular acidification was assessed by measuring intracellular fluorescence intensity raised by the acidotrophic agent, 3-[2,4-dinitroanilino]-3'-amino-N-methyldipropyramine. Compared with wild-type β-cells, there was a 32% reduction in the intensity in WFS1-deficient β-cells, indicating the impairment of granular acidification. This phenotype may, at least partly, account for the evidence that Wfs1-null islets have impaired proinsulin processing, resulting in an increased circulating proinsulin level. Morphometric analysis using electron microscopy evidenced that the density of secretory granules attached to the plasma membrane was significantly reduced in Wfs1-null β-cells relative to that in wild-type β-cells. This may be relevant to the recent finding that granular acidification is required for the priming of secretory granules preceding exocytosis and may partly explain the fact that glucose-induced insulin secretion is profoundly impaired in young prediabetic Wfs1-null mice. These results thus provide new insights into the molecular mechanisms of β-cell dysfunction in patients with Wolfram syndrome.

  8. Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

    Science.gov (United States)

    Matsunaga, Kimie; Tanabe, Katsuya; Inoue, Hiroshi; Okuya, Shigeru; Ohta, Yasuharu; Akiyama, Masaru; Taguchi, Akihiko; Kora, Yukari; Okayama, Naoko; Yamada, Yuichiro; Wada, Yasuhiko; Amemiya, Shin; Sugihara, Shigetaka; Nakao, Yuzo; Oka, Yoshitomo; Tanizawa, Yukio

    2014-01-01

    Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1). However, the phenotypic pleiomorphism, rarity and molecular complexity of this disease complicate our efforts to understand WFS. To address this limitation, we aimed to describe complications and to elucidate the contributions of WFS1 mutations to clinical manifestations in Japanese patients with WFS. The minimal ascertainment criterion for diagnosing WFS was having both early onset diabetes mellitus and bilateral optic atrophy. Genetic analysis for WFS1 was performed by direct sequencing. Sixty-seven patients were identified nationally for a prevalence of one per 710,000, with 33 patients (49%) having all 4 components of DIDMOAD. In 40 subjects who agreed to participate in this investigation from 30 unrelated families, the earliest manifestation was DM at a median age of 8.7 years, followed by OA at a median age of 15.8 years. However, either OA or DI was the first diagnosed feature in 6 subjects. In 10, features other than DM predated OA. Twenty-seven patients (67.5%) had a broad spectrum of recessive mutations in WFS1. Two patients had mutations in only one allele. Eleven patients (27.5%) had intact WFS1 alleles. Ages at onset of both DM and OA in patients with recessive WFS1 mutations were indistinguishable from those in patients without WFS1 mutations. In the patients with predicted complete loss-of-function mutations, ages at the onsets of both DM and OA were significantly earlier than those in patients with predicted partial-loss-of function mutations. This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may exist in patients with WFS1 mutations, as demonstrated by the disease onset.

  9. [Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].

    Science.gov (United States)

    Shi, S M; Han, Y H; Wang, H B

    2016-09-07

    Compound homozygous or heterozygous mutations in WFS 1 can lead to autosomal recessive Wolfram syndrome (WS), and heterozygous mutations in WFS 1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL). In addition, mutations in the WFS region has relationship with diabetes and psychiatric diseases. In this paper, we provide an overview of genetic research with different phenotypes, including WS and LFSNHL.

  10. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

    Science.gov (United States)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda; Lodahl, Marianne; Tranebjærg, Lisbeth; Cesur, Yasar; Dogan, Murat; Yilmaz, Cahide; Akgun, Cihangir; Acikgoz, Mehmet

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  11. 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

  12. 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.

  13. A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour.

    Science.gov (United States)

    Aluclu, Mehmet Ufuk; Bahceci, Mithat; Tuzcu, Alpaslan; Arikan, Senay; Gokalp, Deniz

    2006-12-01

    Wolfram syndrome (WS) is an autosomal recessive disorder characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. It is also known by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We diagnosed Wolfram syndrome in 2 male siblings and determined a new mutation (c. 1522-1523delTA, Y508fsX421). Both affected siblings were homozygous, other family members were heterozygous. Dilated renal outflow tracts in the third decade, and neuropsychiatric disorders including bipolar disorder and neurosensorial deafness appear in the fourth decade in ordinary WS, whereas these features appeared in second decade in our patients. This mutation may be responsible for early appearance of dilated renal outflow tracts and multiple neurological abnormalities. Psychiatric disturbances such as suicide were reported at increased frequency in Wolfram patients and in heterozygous carriers. Suicidal behaviour occurred in our patients when they were yet 11 and 13 years old. Therefore, our findings may indicate that there may be a relationship between this WFS1 mutation and mood disorder such as suicidal behaviour. We determined a new mutation (c. 1522-1523delTA, Y508fsX421) in WS1 gene in 2 siblings with Wolfram syndrome. This mutation may be responsible for early appearance of clinical features of Wolfram syndrome, and there may be a relationship between this mutation and suicidal behaviour.

  14. 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.

  15. 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.

  16. Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

    Directory of Open Access Journals (Sweden)

    Kimie Matsunaga

    Full Text Available BACKGROUND: Wolfram syndrome (WFS is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1. However, the phenotypic pleiomorphism, rarity and molecular complexity of this disease complicate our efforts to understand WFS. To address this limitation, we aimed to describe complications and to elucidate the contributions of WFS1 mutations to clinical manifestations in Japanese patients with WFS. METHODOLOGY: The minimal ascertainment criterion for diagnosing WFS was having both early onset diabetes mellitus and bilateral optic atrophy. Genetic analysis for WFS1 was performed by direct sequencing. PRINCIPAL FINDINGS: Sixty-seven patients were identified nationally for a prevalence of one per 710,000, with 33 patients (49% having all 4 components of DIDMOAD. In 40 subjects who agreed to participate in this investigation from 30 unrelated families, the earliest manifestation was DM at a median age of 8.7 years, followed by OA at a median age of 15.8 years. However, either OA or DI was the first diagnosed feature in 6 subjects. In 10, features other than DM predated OA. Twenty-seven patients (67.5% had a broad spectrum of recessive mutations in WFS1. Two patients had mutations in only one allele. Eleven patients (27.5% had intact WFS1 alleles. Ages at onset of both DM and OA in patients with recessive WFS1 mutations were indistinguishable from those in patients without WFS1 mutations. In the patients with predicted complete loss-of-function mutations, ages at the onsets of both DM and OA were significantly earlier than those in patients with predicted partial-loss-of function mutations. CONCLUSION/SIGNIFICANCE: This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may

  17. 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

  18. 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 ...

  19. 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...

  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. Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report.

    Science.gov (United States)

    Xu, Qianqian; Qu, Huaiyu; Wei, Shihui

    2013-03-01

    A 12‑year‑old Chinese girl presented with gradual vision loss and insulin‑dependent diabetes mellitus and was suspected to suffer from Wolfram syndrome (WFS). A series of clinical examinations were performed, as well as direct DNA sequencing to screen the entire coding region of the WFS1 gene in the patient's family, including her parents and a brother. Ophthalmological examination revealed counting fingers/10 cm in the right eye and hand motions/10 cm in the left eye. Ophthalmoscopical examination identified bilateral optic atrophy without any signs of diabetic retinopathy. A hearing test was performed and revealed that the hearing ability for high frequency sounds was decreased. Urinary output in 24 h was >5,000 ml. In addition, a base substitution at c.2411T>C (Leu804Pro) in exon 8 was identified which was homozygous with the patient and heterozygous with the healthy parents and the brother. In the present case, a neuroophthalmology consult performed in the early stages of the disease was crucial for early diagnosis. In addition, this case study highlights the importance of performing a hearing test as well as collecting and analyzing 24‑h urine output in patients presenting with juvenile diabetes mellitus patients and optic atrophy without any signs of diabetic retinopathy.

  2. Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration.

    Science.gov (United States)

    Plaas, Mario; Seppa, Kadri; Reimets, Riin; Jagomäe, Toomas; Toots, Maarja; Koppel, Tuuliki; Vallisoo, Tuuli; Nigul, Mait; Heinla, Indrek; Meier, Riho; Kaasik, Allen; Piirsoo, Andres; Hickey, Miriam A; Terasmaa, Anton; Vasar, Eero

    2017-08-31

    Wolfram syndrome (WS) is a rare autosomal-recessive disorder that is caused by mutations in the WFS1 gene and is characterized by juvenile-onset diabetes, optic atrophy, hearing loss and a number of other complications. Here, we describe the creation and phenotype of Wfs1 mutant rats, in which exon 5 of the Wfs1 gene is deleted, resulting in a loss of 27 amino acids from the WFS1 protein sequence. These Wfs1-ex5-KO232 rats show progressive glucose intolerance, which culminates in the development of diabetes mellitus, glycosuria, hyperglycaemia and severe body weight loss by 12 months of age. Beta cell mass is reduced in older mutant rats, which is accompanied by decreased glucose-stimulated insulin secretion from 3 months of age. Medullary volume is decreased in older Wfs1-ex5-KO232 rats, with the largest decreases at the level of the inferior olive. Finally, older Wfs1-ex5-KO232 rats show retinal gliosis and optic nerve atrophy at 15 months of age. Electron microscopy revealed axonal degeneration and disorganization of the myelin in the optic nerves of older Wfs1-ex5-KO232 rats. The phenotype of Wfs1-ex5-KO232 rats indicates that they have the core symptoms of WS. Therefore, we present a novel rat model of WS.

  3. Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis.

    Science.gov (United States)

    Wiley, Sandra E; Andreyev, Alexander Y; Divakaruni, Ajit S; Karisch, Robert; Perkins, Guy; Wall, Estelle A; van der Geer, Peter; Chen, Yi-Fan; Tsai, Ting-Fen; Simon, Melvin I; Neel, Benjamin G; Dixon, Jack E; Murphy, Anne N

    2013-06-01

    Miner1 is a redox-active 2Fe2S cluster protein. Mutations in Miner1 result in Wolfram Syndrome, a metabolic disease associated with diabetes, blindness, deafness, and a shortened lifespan. Embryonic fibroblasts from Miner1(-/-) mice displayed ER stress and showed hallmarks of the unfolded protein response. In addition, loss of Miner1 caused a depletion of ER Ca(2+) stores, a dramatic increase in mitochondrial Ca(2+) load, increased reactive oxygen and nitrogen species, an increase in the GSSG/GSH and NAD(+)/NADH ratios, and an increase in the ADP/ATP ratio consistent with enhanced ATP utilization. Furthermore, mitochondria in fibroblasts lacking Miner1 displayed ultrastructural alterations, such as increased cristae density and punctate morphology, and an increase in O2 consumption. Treatment with the sulphydryl anti-oxidant N-acetylcysteine reversed the abnormalities in the Miner1 deficient cells, suggesting that sulphydryl reducing agents should be explored as a treatment for this rare genetic disease. Copyright © 2013 The Authors. Published by John Wiley and Sons, Ltd on behalf of EMBO.

  4. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

    Science.gov (United States)

    Rouzier, Cécile; Moore, David; Delorme, Cécile; Lacas-Gervais, Sandra; Ait-El-Mkadem, Samira; Fragaki, Konstantina; Burté, Florence; Serre, Valérie; Bannwarth, Sylvie; Chaussenot, Annabelle; Catala, Martin; Yu-Wai-Man, Patrick; Paquis-Flucklinger, Véronique

    2017-05-01

    Wolfram syndrome (WS) is a progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority of patients harbour pathogenic WFS1 mutations, but recessive mutations in a second gene, CISD2, have been described in a small number of families with Wolfram syndrome type 2 (WFS2). The defining diagnostic criteria for WFS2 also consist of optic atrophy and diabetes mellitus, but unlike WFS1, this phenotypic subgroup has been associated with peptic ulcer disease and an increased bleeding tendency. Here, we report on a novel homozygous CISD2 mutation (c.215A > G; p.Asn72Ser) in a Moroccan patient with an overlapping phenotype suggesting that Wolfram syndrome type 1 and type 2 form a continuous clinical spectrum with genetic heterogeneity. The present study provides strong evidence that this particular CISD2 mutation disturbs cellular Ca2+ homeostasis with enhanced Ca2+ flux from the ER to mitochondria and cytosolic Ca2+ abnormalities in patient-derived fibroblasts. This Ca2+ dysregulation was associated with increased ER-mitochondria contact, a swollen ER lumen and a hyperfused mitochondrial network in the absence of overt ER stress. Although there was no marked alteration in mitochondrial bioenergetics under basal conditions, culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels. Our results provide important novel insight into the potential disease mechanisms underlying the neurodegenerative consequences of CISD2 mutations and the subsequent development of multisystemic disease. © The Author 2017. Published by Oxford University Press.

  5. QUANTUM: A Wolfram Mathematica add-on for Dirac Bra-Ket Notation, Non-Commutative Algebra, and Simulation of Quantum Computing Circuits

    International Nuclear Information System (INIS)

    Muñoz, J L Gómez; Delgado, F

    2016-01-01

    This paper introduces QUANTUM, a free library of commands of Wolfram Mathematica that can be used to perform calculations directly in Dirac braket and operator notation. Its development started several years ago, in order to study quantum random walks. Later, many other features were included, like operator and commutator algebra, simulation and graphing of quantum computing circuits, generation and solution of Heisenberg equations of motion, among others. To the best of our knowledge, QUANTUM remains a unique tool in its use of Dirac notation, because it is used both in the input and output of the calculations. This work depicts its usage and features in Quantum Computing and Quantum Hamilton Dynamics. (paper)

  6. 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.

  7. 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.

  8. 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...

  9. 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...

  10. 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...

  11. 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.

  12. 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...

  13. Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice.

    Science.gov (United States)

    Raud, Sirli; Reimets, Riin; Loomets, Maarja; Sütt, Silva; Altpere, Alina; Visnapuu, Tanel; Innos, Jürgen; Luuk, Hendrik; Plaas, Mario; Volke, Vallo; Vasar, Eero

    2015-08-01

    Wolfram syndrome, induced by mutation in WFS1 gene, increases risk of developing mood disorders in humans. In mice, Wfs1 deficiency cause higher anxiety-like behaviour and increased response to anxiolytic-like effect of diazepam, a GABAA receptor agonist. As GABAergic system is also target for ethanol, we analysed its anxiolytic-like and sedative properties in Wfs1-deficient mice using elevated plus-maze test and tests measuring locomotor activity and coordination, respectively. Additionally loss of righting reflex test was conducted to study sedative/hypnotic properties of ethanol, ketamine and pentobarbital. To evaluate pharmacokinetics of ethanol in mice enzymatic colour test was used. Finally, gene expression of alpha subunits of GABAA receptors following ethanol treatment was studied by real-time-PCR. Compared to wild-types, Wfs1-deficient mice were more sensitive to ethanol-induced anxiolytic-like effect, but less responsive to impairment of motor coordination. Ethanol and pentobarbital, but not ketamine, caused longer duration of hypnosis in Wfs1-deficient mice. The expression of Gabra2 subunit at 30 minutes after ethanol injection was significantly increased in the frontal cortex of Wfs1-deficient mice as compared to respective vehicle-treated mice. For the temporal lobe, similar change in Gabra2 mRNA occurred at 60 minutes after ethanol treatment in Wfs1-deficient mice. No changes were detected in Gabra1 and Gabra3 mRNA following ethanol treatment. Taken together, increased anxiolytic-like effect of ethanol in Wfs1-deficient mice is probably related to altered Gabra2 gene expression. Increased anti-anxiety effect of GABAA receptor agonists in the present work and earlier studies (Luuk et al., 2009) further suggests importance of Wfs1 gene in the regulation of emotional behaviour. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. GLP-1-RA Corrects Mitochondrial Labile Iron Accumulation and Improves β-Cell Function in Type 2 Wolfram Syndrome.

    Science.gov (United States)

    Danielpur, Liron; Sohn, Yang-Sung; Karmi, Ola; Fogel, Chen; Zinger, Adar; Abu-Libdeh, Abdulsalam; Israeli, Tal; Riahi, Yael; Pappo, Orit; Birk, Ruth; Zangen, David H; Mittler, Ron; Cabantchik, Zvi-Ioav; Cerasi, Erol; Nechushtai, Rachel; Leibowitz, Gil

    2016-10-01

    Type 2 Wolfram syndrome (T2-WFS) is a neuronal and β-cell degenerative disorder caused by mutations in the CISD2 gene. The mechanisms underlying β-cell dysfunction in T2-WFS are not known, and treatments that effectively improve diabetes in this context are lacking. Unraveling the mechanisms of β-cell dysfunction in T2-WFS and the effects of treatment with GLP-1 receptor agonist (GLP-1-RA). A case report and in vitro mechanistic studies. We treated an insulin-dependent T2-WFS patient with the GLP-1-RA exenatide for 9 weeks. An iv glucose/glucagon/arginine stimulation test was performed off-drug before and after intervention. We generated a cellular model of T2-WFS by shRNA knockdown of CISD2 (nutrient-deprivation autophagy factor-1 [NAF-1]) in rat insulinoma cells and studied the mechanisms of β-cell dysfunction and the effects of GLP-1-RA. Treatment with exenatide resulted in a 70% reduction in daily insulin dose with improved glycemic control, as well as an off-drug 7-fold increase in maximal insulin secretion. NAF-1 repression in INS-1 cells decreased insulin content and glucose-stimulated insulin secretion, while maintaining the response to cAMP, and enhanced the accumulation of labile iron and reactive oxygen species in mitochondria. Remarkably, treatment with GLP-1-RA and/or the iron chelator deferiprone reversed these defects. NAF-1 deficiency leads to mitochondrial labile iron accumulation and oxidative stress, which may contribute to β-cell dysfunction in T2-WFS. Treatment with GLP-1-RA and/or iron chelation improves mitochondrial function and restores β-cell function. Treatment with GLP-1-RA, probably aided by iron chelation, should be considered in WFS and other forms of diabetes associated with iron dysregulation.

  15. Tungsten/wolfram: A little-known connection between the 18th century Basque Country and SOFT 2014 in Donostia/San Sebastián

    International Nuclear Information System (INIS)

    Román, Pascual; Ascasíbar, Enrique

    2015-01-01

    Highlights: • SOFT 2014 has taken place in Donostia/San Sebastián. • Tungsten/wolfram (W) is a strategic material for the development of fusion. • W was isolated very close to Donostia in the late 18th century as a result of a combination of fortunate circumstances. • This fact is largely unknown even to the fusion materials experts working with W. • We describe this story with some detail. - Abstract: This paper is intended as a preface of the special issue that Fusion Engineering and Design will devote to the best papers presented in the Symposium on Fusion Technology, 2014 (SOFT 2014) that took place in Donostia/San Sebastián. It is a historical note dwelling on the largely unknown story of the isolation of tungsten/wolfram in Spain, more precisely, in the Basque Country, very close to Donostia/San Sebastián, in the late 18th century. Given the current strategic importance of tungsten in the development of fusion as a viable energy source we think it is timely to recall the protagonists and the circumstances involved in the isolation of this metal.

  16. Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.

    Science.gov (United States)

    Sobhani, Maryam; Tabatabaiefar, Mohammad Amin; Rajab, Asadollah; Kajbafzadeh, Abdol-Mohammad; Noori-Daloii, Mohammad Reza

    2014-11-01

    Wolfram syndrome also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) is a rare neurodegenerative autosomal recessive disorder. There is evidence of variable expressivity both in patients and heterozygous carriers. In this study, we describe three Persian Wolfram syndrome families with differences in the age of onset, signs and symptoms of the disease. We clinically evaluated affected families for verifying WS clinical diagnosis. After linkage analysis via 5 STR markers, molecular analysis for WFS1 was performed by direct sequencing for patients and available family members. Three homozygous mutations were identified including c.1885 C>T, c.2205C>A both in exon 8 and c.460+1G>A in intron 4. The mutation c.2205C>A was found to be novel. We report interesting phenotype-genotype correlations: homozygous c.1885C>T and c.2205C>A variants were correlated with quite different disease severity and onset in the siblings. We report a rare case of WS with homozygous c.1885C>T who is married and has a healthy child. c.460+1G>A showed a possible partial dominant inheritance put forth by a heterozygous parent showing partial WS symptoms while her daughter displayed typical WS symptoms. Due to variable expressivity, detailed clinical examination and molecular diagnostics should be used to confirm WS and a more exact recurrence risk data.

  17. Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

    Science.gov (United States)

    Haghighi, Amirreza; Haghighi, Alireza; Setoodeh, Aria; Saleh-Gohari, Nasrollah; Astuti, Dewi; Barrett, Timothy G

    2013-03-01

    Wolfram syndrome (WFS) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and optic atrophy. We studied clinical features and the molecular basis of severe WFS (neurodegenerative complications) in two consanguineous families from Iran. A clinical and molecular genetic investigation was performed in the affected and healthy members of two families. The clinical diagnosis of WFS was confirmed by the existence of diabetes mellitus and optic atrophy in the affected patients, who in addition had severe neurodegenerative complications. Sequencing of WFS1 was undertaken in one affected member from each family. Targeted mutations were tested in all members of relevant families. Patients had most of the reported features of WFS. Two affected males in the first family had fathered unaffected children. We identified two homozygous mutations previously reported with apparently milder phenotypes: family 1: c.631G>A (p.Asp211Asn) in exon 5, and family 2: c.1456C>T (p.Gln486*) in exon 8. Heterozygous carriers were unaffected. This is the first report of male Wolfram patients who have successfully fathered children. Surprisingly, they also had almost all the complications associated with WFS. Our report has implications for genetic counseling and family planning advice for other affected families.

  18. A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.

    Science.gov (United States)

    Prochazkova, Dagmar; Hruba, Zuzana; Konecna, Petra; Skotakova, Jarmila; Fajkusova, Lenka

    2016-12-01

    Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed in this boy who also had severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters anomaly type 3 (i.e. posterior central defect with stromal opacity of the cornea, adhering stripes of the iris, and cataract with corneolenticular adhesion), congenital glaucoma, megalocornea, severe hearing impairment, a one-sided deformity of the auricle with atresia of the bony and soft external auditory canal, non-differentiable eardrum, missing os incus, hypothyreosis, and nephrocalcinosis. Molecular-genetic examinations revealed a de novo mutation p.(Glu809Lys) in the WFS1 gene. No mutations were detected in the biological parents. The mutation p.(Glu809Lys) in the WFS1 gene is associated with WFSL.

  19. 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

  20. 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

  1. 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

  2. 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.

  3. Investigation of corrosion and wear mechanisms in hard material-reinforced duplex steel coatings; Untersuchungen zum Korrosions- und Verschleissverhalten von hartstoffverstaerkten `Duplex`-Schutzschichten. Schlussbericht

    Energy Technology Data Exchange (ETDEWEB)

    Bouaifi, B. [Technische Univ. Clausthal, Clausthal-Zellerfeld (Germany). Inst. fuer Schweisstechnik und Trennende Fertigungsverfahren; Goellner, J. [Technische Univ. Magdeburg (Germany). Inst. fuer Werkstofftechnik und Werkstoffpruefung

    1998-09-30

    werden konnten. Mikrostrukturuntersuchungen zeigten, dass sich durch die Einlagerung von Hartstoffen nicht mehr das typische ferritisch-austenitische Gefuege von Duplexstahl einstellt. Durch Aufloesung und Diffusion reichert sich das Matrixgefuege mit Kohlenstoff und je nach Karbid mit Chrom bzw. Wolfram an, was zu einer Erhoehung der austenitischen Gefuegebestandteile fuehrt. Das Verschleissverhalten der Auftragschweissungen ist sehr gut. Der Abtrag verringert sich unabhaengig von der Karbidart um den Faktor 6. Die Reibflaechen zeigen keine Ausloesungen oder Rissbildung. Das Korrosionsverhalten in Schwefelsaeure ist ebenfalls gut. Die Schweissungen zeigen das typische Verhalten eines passiven Werkstoffes. Die Bestaendigkeit sinkt etwas nach Verschleissbeanspruchung. In kuenstlichem Meerwasser ist eine gute Differenzierung einzelner Proben moeglich. Kleine Kornfraktionen und Vorwaermtemperaturen von 100 C wirken sich positiv auf die Korrosionsbestaendigkeit aus. Anwendungsmoeglichkeiten ergeben sich bei der Beschichtung von Prallblechen in REA-Becken, Rohrleitungen, Pumpenteilen, Flanschen oder Stutzen, aber auch generell fuer die Regeneration korrosiv/abrasiv beanspruchter Anlagenkomponenten. (orig.)

  4. 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

  5. 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.)

  6. 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

  7. 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- ...

  8. 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...

  9. 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.

  10. 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.

  11. Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome

    DEFF Research Database (Denmark)

    Luuk, H.; Koks, S.; Plaas, M.

    2008-01-01

    enrichment of Wf1 protein in the central extended amygdala and ventral striatum. Prominent Wfs1 expression was seen in the hippocampal CA1 region, parasubiculum, superficial part of the second and third layers of the prefrontal cortex and proisocortical areas, hypothalamic magnocellular neurosecretory system......, alveus, fimbria, dorsal hippocampal commissure; subiculum, and to a lesser extent in the central sublenticular extended amygdala, compact part of substantia nigra, and ventral tegmental area. The neuroanatomical findings suggest that the lack of Wf1 protein function can be related to several neurological...... and psychiatric symptoms found in Wolfram syndrome. Enrichment of Wfs1 protein in the central extended amygdala suggests a role in the modulation of anxiety and fear Udgivelsesdato: 2008/8/20...

  12. 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...

  13. Silicon/Wolfram Carbide@Graphene composite: enhancing conductivity and structure stability in amorphous-silicon for high lithium storage performance

    International Nuclear Information System (INIS)

    Sun, Wei; Hu, Renzong; Liu, Hui; Zhang, Hanying; Liu, Jiangwen; Yang, Lichun; Wang, Haihui; Zhu, Min

    2016-01-01

    Highlights: • Two-step ball milling was used to produce an amorphous-Si/WC@Graphene(SW@G) composite. • Concrete-like core-shell structure with high stability was designed. • Multiscale WC particle strengthen the inside structure. • Graphene coating outside much enhanced the cycling stability and conductivity. • The SW@G anode exhibited long cycle life and superior volumetric capacity. - Abstract: Improving the electron conductivity and lithiated structure stability for Si anodes can result in high stable capacity in cells. A Silicon/Wolfram Carbide@Graphene (SW@G) composite anode is designed and produced by a simple two-step ball milling the mixture of coarse-grained Si with good conductive wolfram carbide (WC) and graphite. The SW@G composite consists of multiple-scale WC particles, which are uniformly distributed in amorphous Si matrices, and wrapped by graphene nanosheets (GNs) on the outside. Owing to the unique concrete-like core-shell structure, the wrapping of GNs on the Si improves the conductivity and structural stability of the composite. The inner WC particles which tightly connect the Si and graphene act as the cornerstone to resist large volumetric expansion of Si during charge/discharge, and in particular serve as the high-speed channels of electrons as well as provide more interface paths for Li + to accelerate their transfer inside the Si. These contribute to the excellent electrochemical properties of SW@G composite anode, including high volumetric capacity (three times higher than that of graphite), superior rate capability, and long-life stable cycleability. The synthetic method developed in this work paves the way for large-scale manufacturing of high performance Li storage anodes using commercially available materials and technologies.

  14. 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...

  15. 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.

  16. 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 ...

  17. 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.

  18. 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!

  19. 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....

  20. 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

  1. 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...

  2. 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.

  3. ˝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.

  4. 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.

  5. 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.)

  6. 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.

  7. 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

  8. 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....

  9. 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...

  10. 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

  11. 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.

  12. 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...

  13. [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)

  14. 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)

  15. 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)

  16. 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 ...

  17. 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...

  18. 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).

  19. 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.

  20. 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.

  1. 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...

  2. 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.

  3. 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.

  4. 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

  5. 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.

  6. 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

  7. 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

  8. 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.

  9. 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)

  10. 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

  11. 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.

  12. 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.

  13. 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

  14. 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.

  15. 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,

  16. 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

  17. 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

  18. 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)

  19. 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)

  20. A novel-iterative simulation method for performance analysis of non-coherent FSK/ASK systems over Rice/Rayleigh channels using the wolfram language

    Directory of Open Access Journals (Sweden)

    Mladenović Vladimir

    2016-01-01

    Full Text Available In this paper, a new approach in solving and analysing the performances of the digital telecommunication non-coherent FSK/ASK system in the presence of noise is derived, by using a computer algebra system. So far, most previous solutions cannot be obtained in closed form, which can be a problem for detailed analysis of complex communication systems. In this case, there is no insight into the influence of certain parameters on the performance of the system. The analysis, modelling and design can be time-consuming. One of the main reasons is that these solutions are obtained by utilising traditional numerical tools in the shape of closed-form expressions. Our results were obtained in closed-form solutions. They are resolved by the introduction of an iteration-based simulation method. The Wolfram language is used for describing applied symbolic tools, and SchematicSolver application package has been used for designing. In a new way, the probability density function and the impact of the newly introduced parameter of iteration are performed when errors are calculated. Analyses of the new method are applied to several scenarios: without fading, in the presence of Rayleigh fading, Rician fading, and in cases when the signals are correlated and uncorrelated. [Projekat Ministarstva nauke Republike Srbije, br. TR 32023

  1. Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes.

    Science.gov (United States)

    Cano, Aline; Molines, Laurent; Valéro, René; Simonin, Gilbert; Paquis-Flucklinger, Véronique; Vialettes, Bernard

    2007-09-01

    Some previous studies suggested that patients suffering from Wolfram syndrome or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) might be relatively preserved from diabetic retinopathy and nephropathy. However, these data were not conclusive because either observations were only anecdotic or did not match with control type 1 diabetic populations. A group of 26 French diabetic patients with DIDMOAD was compared with a population of 52 patients with common type 1 diabetes matched for age at diabetes diagnosis (8.62 +/- 1.84 vs. 8.27 +/- 1.30 years; P = NS) and diabetes duration (12.88 +/- 1.58 vs. 12.87 +/- 1.13 years; P = NS) to study the quality of glycemic control and the incidence of microvascular complications. Glycemic control was significantly better in the DIDMOAD group than in the type 1 diabetic group (A1C: 7.72 +/- 0.21 vs. 8.99 +/- 0.25%, respectively; P = 0.002), with significant lower daily insulin requirements (0.71 +/- 0.07 vs. 0.88 +/- 0.04 UI x kg(-1) x day(-1), respectively; P = 0.0325). The prevalence of microvascular complications in the DIDMOAD group was half that observed in the type 1 diabetic group, but the difference was not significant. Diabetes in DIDMOAD patients is more easily controlled despite the presence of other handicaps. This better glycemic control could explain the trend to decreased microvascular diabetes complications observed in previous studies.

  2. Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).

    Science.gov (United States)

    Çelmeli, Gamze; Türkkahraman, Doğa; Çürek, Yusuf; Houghton, Jayne; Akçurin, Sema; Bircan, İffet

    2017-03-01

    Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The clinical features include diabetes insipidus, diabetes mellitus (DM), optic atrophy, deafness, and other variable clinical manifestations. In this paper, we present the clinical and genetic characteristics of 3 WS patients from 3 unrelated Turkish families. Clinical characteristics of the patients and the age of onset of symptoms were quite different in each pedigree. The first two cases developed all symptoms of the disease in their first decade of life. The heterozygous father of case 2 was symptomatic with bilateral deafness. The first ocular finding of one patient (patient 3) was bilateral cataract which was accompanying DM as a first feature of the syndrome. In this patient's family, there were two members with features suggestive of WS. Previously known homozygous mutations, c.460+1G>A in intron 4 and c.1885C>T in exon 8, were identified in these cases. A novel homozygous c.2534T>A mutation was also detected in the exon 8 of WFS1 gene. Because of the rarity and heterogeneity of WS, detection of specific and nonspecific clinical signs including ocular findings and family history in non-autoimmune, insulinopenic diabetes cases should lead to a tentative diagnosis of WS. Genetic testing is required to confirm the diagnosis.

  3. Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.

    Science.gov (United States)

    Sobhani, Maryam; Tabatabaiefar, Mohammad Amin; Rajab, Asadollah; Kajbafzadeh, Abdol-Mohammad; Noori-Daloii, Mohammad Reza

    2013-10-10

    Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder that represents a likely source of childhood diabetes especially among countries in the consanguinity belt. The main responsible gene is WFS1 for which over one hundred mutations have been reported from different ethnic groups. The aim of this study was to identify the molecular etiology of WS and to perform a possible genotype-phenotype correlation in Iranian kindred. An Iranian family with two patients was clinically studied and WS was suspected. Genetic linkage analysis via 5 STR markers was carried out. For identification of mutations, DNA sequencing of WFS1 including all the exons, exon-intron boundaries and the promoter was performed. Linkage analysis indicated linkage to the WFS1 region. After DNA sequencing of WFS1, one novel pathogenic mutation, which causes frameshift alteration c.2177_2178insTCTTC (or c.2173_2177dupTCTTC) in exon eight, was found. The genotype-phenotype correlation analysis suggests that the presence of the homozygous mutation may be associated with early onset of disease symptoms. This study stresses the necessity of considering the molecular analysis of WFS1 in childhood diabetes with some symptoms of WS. © 2013 Elsevier B.V. All rights reserved.

  4. Investigations of the ternary system beryllium-carbon-tungsten and analyses of beryllium on carbon surfaces; Untersuchung des ternaeren Systems Beryllium-Kohlenstoff-Wolfram und Betrachtungen von Beryllium auf Kohlenstoffoberflaechen

    Energy Technology Data Exchange (ETDEWEB)

    Kost, Florian

    2009-05-25

    Beryllium, carbon and tungsten are planned to be used as first wall materials in the future fusion reactor ITER. The aim of this work is a characterization of mixed material formation induced by thermal load. To this end, model systems (layers) were prepared and investigated, which give insight into the basic physical and chemical concepts. Before investigating ternary systems, the first step was to analyze the binary systems Be/C and Be/W (bottom-up approach), where the differences between the substrates PG (pyrolytic graphite) and HOPG (highly oriented pyrolytic graphite) were of special interest. Particularly X-ray photoelectron spectroscopy (XPS), low energy ion scattering (ISS) and Rutherford backscattering spectroscopy (RBS) were used as analysis methods. Beryllium evaporated on carbon shows an island growth mode, whereas a closed layer can be assumed for layer thicknesses above 0.7 nm. Annealing of the Be/C system induces Be{sub 2}C island formation for T{>=}770 K. At high temperatures (T{>=}1170 K), beryllium carbide dissociates, resulting in (metallic) beryllium desorption. For HOPG, carbide formation starts at higher temperatures compared to PG. Activation energies for the diffusion processes were determined by analyzing the decreasing beryllium amount versus annealing time. Surface morphologies were characterized using angle-resolved XPS (ARXPS) and atomic force microscopy (AFM). Experiments were performed to study processes in the Be/W system in the temperature range from 570 to 1270 K. Be{sub 2}W formation starts at 670 K, a complete loss of Be{sub 2}W is observed at 1170 K due to dissociation (and subsequent beryllium desorption). Regarding ternary systems, particularly Be/C/W and C/Be/W were investigated, attaching importance to layer thickness (reservoir) variations. At room temperature, Be{sub 2}C, W{sub 2}C, WC and Be{sub 2}W formation at the respective interfaces was observed. Further Be{sub 2}C is forming with increasing annealing temperatures. Depending on the layer sequence, carbide formation is complete in the temperature range between 570 and 770 K. Be{sub 2}W alloy formation only takes place if further metallic beryllium is available after carbide formation. Be{sub 2}C and Be{sub 2}W dissociate at temperatures T>1170 K. Based on RBS analysis of C/Be/W systems of several 100 nm thickness, the concentration dependent diffusion coefficient for Be in W was determined. Only Be{sub 12}W formation was observed due to the large beryllium reservoir. Carbide formation (Be{sub 2}C) is not observed until the alloy formation is completed. Furthermore, the first successful depth-resolved XPS measurements were performed on ternary layer systems using synchrotron radiation. The reactions in the ternary system are restricted to compounds that are already known from binary system investigations. No further Be, C, W-containing species are detected. Beryllium carbide is dominant in the system as long as it does not dissociate. (orig.)

  5. 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.

  6. 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.

  7. 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.

  8. 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)

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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 ...

  14. 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.

  15. 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...

  16. 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

  17. 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.

  18. 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.

  19. 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...

  20. 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

  1. 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...

  2. A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.

    Science.gov (United States)

    Morikawa, Shuntaro; Tajima, Toshihiro; Nakamura, Akie; Ishizu, Katsura; Ariga, Tadashi

    2017-12-01

    Wolfram syndrome (WS) is a disorder characterized by the association of insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and optic nerve atrophy. WS is caused by WFS1 mutations encoding WFS1 protein expressed in endoplasmic reticulum (ER). During ER protein synthesis, misfolded and unfolded proteins accumulate, known as "ER stress". This is attenuated by the unfolded protein response (UPR), which recovers and maintains ER functions. Because WFS1 is a UPR component, mutant WFS1 might cause unresolvable ER stress conditions and cell apoptosis, the major causes underlying WS symptoms. We encountered an 11-month-old Japanese female WS patient with insulin-dependent DM, congenital cataract and severe bilateral hearing loss. Analyze the WFS1 and functional consequence of the patient WFS1 in vitro. The patient WFS1 contained a heterozygous 4 amino acid in-frame deletion (p.N325_I328del). Her mutant WFS1 increased GRP78 and ATF6α promoter activities in the absence of thapsigargin, indicating constitutive ER stress and nuclear factor of activated T-cell reporter activity, reflecting elevated cytosolic Ca 2+ signals. Mutant transfection into cells reduced mRNA expression levels of sarcoplasmic/endoplasmic reticulum Ca 2+ transport ATPase 2b (SERCA2b) compared with wild type. Because SERCA2b is required for ER and cytoplasmic Ca 2+ homeostasis, decreased SERCA2b expression might affect ER Ca 2+ efflux, causing cell apoptosis. A novel heterozygous mutation of WFS1 induced constitutive ER stress through ATF6α activation and ER Ca 2+ efflux, resulting in cell apoptosis. These results provide new insights into the roles of WFS1 in UPR and mechanism of monogenic DM. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

    Science.gov (United States)

    Farmer, Amy; Aymé, Ségolène; de Heredia, Miguel Lopez; Maffei, Pietro; McCafferty, Susan; Młynarski, Wojciech; Nunes, Virginia; Parkinson, Kay; Paquis-Flucklinger, Véronique; Rohayem, Julia; Sinnott, Richard; Tillmann, Vallo; Tranebjaerg, Lisbeth; Barrett, Timothy G

    2013-08-27

    Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.

  4. Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected.

    Science.gov (United States)

    Lombardo, F; Salzano, G; Di Bella, C; Aversa, T; Pugliatti, F; Cara, S; Valenzise, M; De Luca, F; Rigoli, L

    2014-02-01

    Since the original description, there have been only few epidemiological studies of Wolfram syndrome (WS). Aims of the present paper are to ascertain WS prevalence and expression in a district of North-eastern Sicily, i.e. a geographic area where consanguineous unions are not very unusual. Prevalence rates of WS in the Messina district were calculated by taking into consideration both the total population (653,737) and the populations included within the 0-30 year age range (202,681). We estimated the relative prevalence of WS among patients with youth-onset insulin-dependent diabetes mellitus (DM) who are currently aged under 30 years (256). Global WS prevalence in our district is 1:54,478, whereas prevalence among individuals under 30 is 1:16,890 and relative prevalence among patients with juvenile-onset insulin-dependent DM is 1:22.3. When compared with the patients with insulin-dependent DM of Messina district, WS patients did not exhibit significant differences in terms of biochemical features at DM onset, whereas age at DM diagnosis was significantly earlier in WS group. (a) WS prevalence is not so infrequent as generally expected; (b) in our series, DM presented before 10 years in 11/12 patients and ten cases have already developed all the four peculiar manifestations of WS by 26 years; (c) 9/12 patients exhibited a homozygous frameshift/truncation mutation (Y454_L459del_fsX454), which is the one most frequently found also in patients from other Italian regions; (d) age at DM diagnosis was significantly earlier in WS group than in the patients with insulin-dependent DM of Messina district.

  5. A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.

    Science.gov (United States)

    Cattaneo, Monica; La Sala, Lucia; Rondinelli, Maurizio; Errichiello, Edoardo; Zuffardi, Orsetta; Puca, Annibale Alessandro; Genovese, Stefano; Ceriello, Antonio

    2017-12-13

    Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggregation. Four mutations in the CISD2 gene have been reported. Among these mutations, the homozygous c.103 + 1G > A substitution was identified in the donor splice site of intron 1 in two Italian sisters and was predicted to cause a exon 1 to be skipped. Here, we employed molecular assays to characterize the c.103 + 1G > A mutation using the patient's peripheral blood mononuclear cells (PBMCs). 5'-RACE coupled with RT-PCR were used to analyse the effect of the c.103 + 1G > A mutation on mRNA splicing. Western blot analysis was used to analyse the consequences of the CISD2 mutation on the encoded protein. We demonstrated that the c.103 + 1G > A mutation functionally impaired mRNA splicing, producing multiple splice variants characterized by the whole or partial absence of exon 1, which introduced amino acid changes and a premature stop. The affected mRNAs resulted in either predicted targets for nonsense mRNA decay (NMD) or non-functional isoforms. We concluded that the c.103 + 1G > A mutation resulted in the loss of functional CISD2 protein in the two Italian WFS2 patients.

  6. 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 ...

  7. 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)

  8. 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

  9. 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...

  10. 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...

  11. Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.

    Science.gov (United States)

    Sakakibara, Yasufumi; Sekiya, Michiko; Fujisaki, Naoki; Quan, Xiuming; Iijima, Koichi M

    2018-01-01

    Wolfram syndrome (WS), caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations. WFS1 encodes an endoplasmic reticulum (ER)-resident transmembrane protein, and mutations in this gene lead to pancreatic β-cell death induced by high levels of ER stress. However, the mechanisms underlying neurodegeneration caused by WFS1 deficiency remain elusive. Here, we investigated the role of WFS1 in the maintenance of neuronal integrity in vivo by knocking down the expression of wfs1, the Drosophila homolog of WFS1, in the central nervous system. Neuronal knockdown of wfs1 caused age-dependent behavioral deficits and neurodegeneration in the fly brain. Knockdown of wfs1 in neurons and glial cells resulted in premature death and significantly exacerbated behavioral deficits in flies, suggesting that wfs1 has important functions in both cell types. Although wfs1 knockdown alone did not promote ER stress, it increased the susceptibility to oxidative stress-, excitotoxicity- or tauopathy-induced behavioral deficits, and neurodegeneration. The glutamate release inhibitor riluzole significantly suppressed premature death phenotypes induced by neuronal and glial knockdown of wfs1. This study highlights the protective role of wfs1 against age-associated neurodegeneration and furthers our understanding of potential disease-modifying factors that determine susceptibility and resilience to age-associated neurodegenerative diseases.

  12. Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.

    Directory of Open Access Journals (Sweden)

    Yasufumi Sakakibara

    2018-01-01

    Full Text Available Wolfram syndrome (WS, caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1, is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations. WFS1 encodes an endoplasmic reticulum (ER-resident transmembrane protein, and mutations in this gene lead to pancreatic β-cell death induced by high levels of ER stress. However, the mechanisms underlying neurodegeneration caused by WFS1 deficiency remain elusive. Here, we investigated the role of WFS1 in the maintenance of neuronal integrity in vivo by knocking down the expression of wfs1, the Drosophila homolog of WFS1, in the central nervous system. Neuronal knockdown of wfs1 caused age-dependent behavioral deficits and neurodegeneration in the fly brain. Knockdown of wfs1 in neurons and glial cells resulted in premature death and significantly exacerbated behavioral deficits in flies, suggesting that wfs1 has important functions in both cell types. Although wfs1 knockdown alone did not promote ER stress, it increased the susceptibility to oxidative stress-, excitotoxicity- or tauopathy-induced behavioral deficits, and neurodegeneration. The glutamate release inhibitor riluzole significantly suppressed premature death phenotypes induced by neuronal and glial knockdown of wfs1. This study highlights the protective role of wfs1 against age-associated neurodegeneration and furthers our understanding of potential disease-modifying factors that determine susceptibility and resilience to age-associated neurodegenerative diseases.

  13. 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.

  14. 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

  15. 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

  16. 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

  17. 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

  18. [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

  19. 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...

  20. 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

  1. 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.

  2. 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)

  3. [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.

  4. 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.

  5. 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.

  6. 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...

  7. 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...

  8. 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...

  9. [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

  10. 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...

  11. 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

  12. 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

  13. 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.)

  14. 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.

  15. 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

  16. 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...

  17. 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.

  18. 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.

  19. 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...

  20. 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...

  1. 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 ...

  2. [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).

  3. 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 ...

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. 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.

  9. 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

  10. 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...

  11. 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.

  12. 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.)

  13. 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

  14. 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

  15. 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.)

  16. 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.

  17. 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...

  18. 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...

  19. 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.

  20. 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.

  1. 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 ...

  2. 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 ...

  3. 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...

  4. 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...

  5. 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.

  6. 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

  7. 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...

  8. 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

  9. 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

  10. 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)

  11. 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.

  12. "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.

  13. Genetics Home Reference: Wolfram syndrome

    Science.gov (United States)

    ... important in the pancreas , where the protein is thought to help process a protein called proinsulin into the mature hormone ... individuals. The death of cells in other body systems likely causes the various signs and symptoms of ...

  14. 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.

  15. 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.

  16. 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...

  17. 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.

  18. 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.)

  19. 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.)

  20. 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

  1. 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...

  2. 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

  3. 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.

  4. 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...

  5. 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

  6. 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

  7. 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.

  8. 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.

  9. 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...

  10. 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.

  11. 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...

  12. 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...

  13. 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

  14. 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 ...

  15. Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103 + 1G>A CISD2 Mutation for Disease Modeling.

    Science.gov (United States)

    La Spada, Alberto; Ntai, Aikaterini; Genovese, Stefano; Rondinelli, Maurizio; De Blasio, Pasquale; Biunno, Ida

    2018-02-15

    Wolfram syndrome (WFS) is a rare autosomal premature aging syndrome that shows signs of diabetes mellitus, optic atrophy, and deafness in addition to central nervous system and endocrine complications. The frequent form of WFS type 1 (WFS1) harbors causative mutations in the WFS1 gene, whereas the rare form or WFS type 2 (WFS2) involves CISD2. Mutations in these two genes are recognized by a subset of variable clinical symptoms and a set of overlapping features. In this study, we report on the generation of stable human-induced pluripotent stem cells (hiPSCs) derived from primary fibroblasts of a previously reported Italian family with CISD2 mutation (c.103 + 1G>A), occurring in the consensus intron 1 splicing site in two sisters, deleting the first exon of the transcript. The generated hiPSCs provide a cell model system to study the mutation's role in the multisystemic clinical disorders previously described and test eventual drug effects on the specific and associated clinical phenotype.

  16. 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.

  17. 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.

  18. 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.)

  19. 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)

  20. 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.

  1. 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…

  2. 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

  3. 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

  4. 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.

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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...

  10. 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.

  11. 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

  12. 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.

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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 ...

  3. 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.

  4. 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

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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

  15. 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...

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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-...

  6. 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...

  7. 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...

  8. 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 ...

  9. 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

  10. 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...

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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...

  17. 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

  18. 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.

  19. 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

  20. 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)

  1. 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...

  2. 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 ...

  3. 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...

  4. 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.)

  5. 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.)

  6. 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.

  7. 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.

  8. 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...

  9. 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...

  10. 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 ...

  11. 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...

  12. 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...

  13. 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...

  14. 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...

  15. 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...

  16. 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...

  17. 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.)

  18. 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.

  19. 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

  20. 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.

  1. 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...

  2. 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...

  3. 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

  4. 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

  5. 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

  6. 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.

  7. 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)

  8. Ueber den begriff "Kinoplasma" in der spermiogenese von Australorbis Glabratus Olivaceus (Mollusca, Pulmonata, Planorbidae

    Directory of Open Access Journals (Sweden)

    Rudolf Barth

    1960-11-01

    Full Text Available Zur Klaerung der Frage, ob der Begriff "Kinoplasma" fuer gewisse, von MERTON (1924,1926, 1930 beobachtete Bildungen an den reifenden Spermiden von pulmonaten Mollusken oder fuer Bestandteile des Cytoplasmas im Sinne von STRASBURGER und SCARTH zu verwenden ist, werden in der vorliegenden Mitteilung die Vorgaenge bei der Spermiohistogenese von Australorbis glabratus olivaceus untersucht. Es ergibt sich: 1. Das von MERTON bezeichnete "Kinoplasma" existiert nicht als solches, es handelt sich bei den von ihm dargestellten Protoplasmabildungen um kugelige, von den Spermiden abgeschnuerte Restkoerper nicht verwendeten Baumaterials, bestehend aus Protoplasma und einigen Mitochondrien. Sie werden von den Naehr- oder Bazalzellen phagozytiert. Der Ausdruck "Kinoplasma" kann nur fuer die submikroskopischen, geformten, faedigen Elemente des Cytoplasmas reserviert bleiben, die den geradlinigen Fall der uebrigen nicht geformten Komponenten bremst oder ablenkt; damit muss das Kinoplasma aber aus dem Begriff des Cytoplasmas herausgenommen werden, da es, wenn auch vermutlich reversibel, eine Differenzierung darstellt. 2. Der Spermienfaden wird von den Centriolen (Axialfilament und den Mitochondrien (zwei peripher gelegene Spiralfilamente, sowie einem Plasmamantel gebildet. 3. Nach Beendigung des Auswachsens der Spermiengeissel, die zu diesem Zeitpunkt nur aus dem Achsenfaden und dem Protoplasmazylinder besteht, setzt sich eine Protoplasmamasse vom Kopf in Richtung zum Geisselende in Bewegung. Sie fuehrt den Golgi-Koerper und sehr viele Mitochondrien mit sich. Aus diesen entwickeln sich Fibrillen, die sich zu den beiden Spiralfilamenten zusammenfuegen. Diese Masse entspricht der von MERTON in seiner Theorie als Kinoplasma bezeichneten Komponente. 4. Die Bewegung dieses Protoplasmateils wird auf den Schub zurueckgefuehrt, den die sich bildenden Fibrillen auf die Mitochondrien ausueben. 5. Die Rueckwaertsbewegung dieses Protoplasmakoerpers beruht wahrscheinlich auf

  9. [Von den Restgütern zu den Sowchosen in Estland 1939-1953. Dokumentensammlung] / Olev Liivik

    Index Scriptorium Estoniae

    Liivik, Olev, 1975-

    2011-01-01

    Arvustus: Von den Restgütern zu den Sowchosen in Estland 1939-1953 : Dokumentensammlung / Hrsg. von David Feest, Karsten Brüggemann. Berlin : Lit Verlag, 2010. (Schriften der Baltischen historischen Kommission ; Bd. 15)

  10. Kolonel Arthur von Buxhoevedeni (VR 1/2) ja tema abikaasa Kira ümbermatmine kodumaa mulda / Peep Pillak

    Index Scriptorium Estoniae

    Pillak, Peep, 1957-

    2015-01-01

    Vabadusristi kavaler kolonel Arthur von Buxhoeveden ja tema abikaasa Kira sängitati sõjaväeliste austusavaldustega kodumaa mulda Tallinna Kaitseväe kalmistul 12. septembril. Kolonel Arthur von Buxhoeveden'i elukäigust

  11. Mädchenschule und Geschlecht: Eine fallrekonstruktive Untersuchung der kollektiven Orientierungen und Weiblichkeitskonstruktionen von Schülerinnen monoedukativer Schulen

    OpenAIRE

    Waburg, Wiebke

    2010-01-01

    Die Dissertation ist im Rahmen des Projektes "Schulkultur, Geschlechtersegregation und Mädchensozialisation – DIAM" (Projektleitung L. Herwartz-Emden; gefördert von der DFG) entstandenen. In der Arbeit erfolgt die Rekonstruktion der Geschlechtskonstruktionen von Schülerinnen aus Mädchenschulen. Untersucht werden die kollektiven (geschlechtsbezogenen) Orientierungen von Mädchen und jungen Frauen im Alter von 13-19 Jahren. Die Schülerinnen befinden sich in der kulturell definierten Altersphase ...

  12. Zur Makrostruktur von Finanzmärkten: Börsen als Finanzintermediäre im Wettbewerb

    OpenAIRE

    Oehler, Andreas

    2003-01-01

    Die Analyse der so genannten Mikrostruktur von Finanzmärkten und ihr Einfluss auf das Marktergebnis haben in den letzten Jahren im Fokus der Finanzmarktforschung gestanden. Hinsichtlich der Entwicklung, Gestaltung und Regulierung von Finanzsystemen ist jedoch eine Erweiterung des Blickfeldes gewissermaßen in der Gegenrichtung ebenfalls zu forcieren, also die theoretische wie empirische Analyse der Makrostruktur von Finanzmärkten, die insbesondere Wettbewerb und Fragmentierung von Finanzmärkte...

  13. MEGAS - multi-electrode gas sensor system. Micromechanical high-temperature sensor system on a Si basis for measurements of nitrogen monoxide concentrations in motor car exhaust. Final report; MEGAS - Multi-Elektroden-Gassensorsystem. Mikromechanisches Hochtemperatur-Sensorsystem aus Silizium-Basis zur Ermittlung von Stickstoffmonoxid-Konzentrationen im Kfz-Abgas. Abschlussbericht

    Energy Technology Data Exchange (ETDEWEB)

    Junge, S.

    2002-07-01

    The IMSAS is working on an actively heated Si substrate with interdigital structures fo working temperatures up to 550 C and for aggressive working media. The following tasks were achieved: Gas sensor design; Process development and optimisation; Processing of the Si substrate; Optimisation of the sensor substrate. The following problems were encountered: Minimisation of intrinsic stress of the stratified packages; Optimisation of the adhesive strength; Development of a stable sensor heating up to 550 C; Development and optimisation of structuring methods; Combination of thin film and thick film technologies. Resistive gas sensors with titanium-tungsten mixed oxides must be heated to 500 C for fast and sensitive response to a NO atmosphere. The gas sensitivity is strongly temperature-dependent, i.e. gas sensor temperature contro is required. In the case of diesel engine catalytic converters, ambient temperatures are high and vary with the mode of operation and operating time. The sensor temperature must be at least as high as the maximum ambient temperature and must be kept stable at this level. (orig.) [German] Am IMSAS liegt der Schwerpunkt im Bereich der Entwicklung eines aktiv beheizten Siliziumsubstrates mit Interdigitalstrukturen, das Arbeitstemperaturen bis zu 550 C und aggressiven Umgebungsbedingungen standhaelt. Die Arbeitspakete lassen sich grob zusammenfassen: - Designerstellung des Gassensors - Prozessentwicklung und -optimierung - Prozessierung des Siliziumsubstrates - Optimierung des Sensorsubstrates. Aus diesen Schwerpunkten ergeben sich Schwierigkeiten, die im Projektverlauf geloest werden muessen: - Minimierung des intrinsischen Stresses der Schichtpakete - Optimierung der Haftfestigkeit der Schichten/Schichtpakete - Entwicklung einer stabilen Sensorheizung bis 550 C - Entwicklung und Optimierung der Strukturierungsmethoden - Kombination von Duenn- und Dickschichttechnik (Si-Technologie und Siebdruck). Resistive Gassensoren mit Titan-Wolfram

  14. Biotechnologische Konversion von Nebenströmen der Lebensmittelindustrie zu hochwertigen Aromastoffen durch Basidiomyceten

    OpenAIRE

    Kunkel, Katrin

    2013-01-01

    29 Basidiomyceten wurden hinsichtlich der Bildung von natürlichen Aromastoffgemischen in Substrat-supplementierten Submerskulturen untersucht. Als Substrate dienten Karottenschalen, Blattspinat, Sellerietrester, Zwiebelschalen, Lauchtrester und Zitruspellets, die als Reststoffe in der lebensmittelverarbeitenden Industrie anfallen. Die Geruchseindrücke von 61 Biotransformationen wurden im Vergleich zu den Substrat- und Pilz-Blindwerten beurteilt und die Reproduzierbarkeit der ansprechendsten B...

  15. Pärnu-Jaagupi Jakobi kirik / Rudolf Moritz von Engelhardt, Elert Thiele, Ants Laikmaa...[jt.

    Index Scriptorium Estoniae

    2007-01-01

    välisvaade, sisevaade; olulised juurdeehitustööd 1695, uus läänetorn 1888, tornikiiver 1907 (arhitekt Rudolf von Engelhart), barokiaegne kantsel (Elert Thiele, u. 1660), varaklassitsistlik altarisein (1793), altarimaal "Kristus ristil" (Ants Laikmaa Eduard von Gebhardti järgi, 1901)

  16. Nonconventional ergodic averages and multiple recurrence for von Neumann dynamical systems

    NARCIS (Netherlands)

    Austin, T.; Eisner, T.; Tao, T.

    2011-01-01

    The Furstenberg recurrence theorem (or equivalently Szemerédi’s theorem) can be formulated in the language of von Neumann algebras as follows: given an integer k ≥ 2, an abelian finite von Neumann algebra (M,τ) with an automorphism α : M→M, and a nonnegative a in M with τ(a) > 0, one has liminf

  17. Von Krahli teater kolib mõneks ajaks Saksamaale / Rain Tolk

    Index Scriptorium Estoniae

    Tolk, Rain, 1977-

    2006-01-01

    Von Krahli Teatri selle hooaja eelviimane esietendus "Europiraadid" on 17. mail Düsseldorfis, koostöös Saksamaa teatrirühmaga Showcase Beat Le Mot. Eesti poole pealt teevad kaasa Juhan Ulfsak, Taavi Eelmaa, Maarja Jakobson ja üllatusmängijana filmimees Rain Tolk, kes räägib oma suhtumisest teatrisse ja suhetest Von Krahli Teatriga

  18. Number-conserving cellular automata with a von Neumann neighborhood of range one

    International Nuclear Information System (INIS)

    Wolnik, Barbara; Dzedzej, Adam; Baetens, Jan M; De Baets, Bernard

    2017-01-01

    We present necessary and sufficient conditions for a cellular automaton with a von Neumann neighborhood of range one to be number-conserving. The conditions are formulated for any dimension and for any set of states containing zero. The use of the geometric structure of the von Neumann neighborhood allows for computationally tractable conditions even in higher dimensions. (paper)

  19. Heinrich von Wlislocki in the memories of his contemporaries

    Directory of Open Access Journals (Sweden)

    Svetlana Procop

    2017-12-01

    Full Text Available The article presents Heinrich von Wlislocki – a folklorist, literary historian, linguist and educator, wide ly known in the scientific circles of Europe of the late XIX century, as one of the first XIX century European researcher of the gypsies – in the memories of his contemporaries. He was a Doctor of Philosophy, one of those whom his colleagues called a “friend of the Gypsies”, he went to wander with the camp of Transylvanian gypsies to collect field material directly in their midst. As a result, about 80 papers were published in selected publications, as well as in well-known scientific journals in Europe. Most often, his publications could be seen in the Journal of the Gypsy Lore Society, of which he was a member. Being a contemporary of George Henry Borrow (1803–1881, Alexander Gheorghe Paspati (1814–1891, Charles Godfrey Leland (1824–1903, Francis Hindes Grum (1851–1902, Anton Herrmann (1851–1926, Hans Ferdinand Helmolt (1865–1929, Heinrich von Wlislocki (1856–1907 was one of the few folklorists and connoisseurs of Gypsy life and culture of the XIX century. The latter completely immersed themselves in the life of the Gypsy, mastering for the first time the ethnographic method of included observation. It was a heroic period of studying folklore in Europe, when dedicated scientists created a folkloric field of research from the scratch. 110 years passed since the death of Heinrich von Wlislocki but this did not erase his name from the historical memory, folklorist researchers still refer to his works, including them in scientific circulation.

  20. Von Willebrand factor regulation of blood vessel formation.

    Science.gov (United States)

    Randi, Anna M; Smith, Koval E; Castaman, Giancarlo

    2018-06-04

    Several important physiological processes, from permeability to inflammation to haemostasis, take place at the vessel wall and are regulated by endothelial cells (EC). Thus, proteins that have been identified as regulators of one process are increasingly found to be involved in other vascular functions. Such is the case for Von Willebrand Factor (VWF), a large glycoprotein best known for its critical role in haemostasis. In vitro and in vivo studies have shown that lack of VWF causes enhanced vascularisation, both constitutively and following ischemia. This evidence is supported by studies on blood outgrowth endothelial cells (BOEC) from patients with lack of VWF synthesis (type 3 von Willebrand disease [VWD]). The molecular pathways are likely to involve VWF binding partners, such as integrin αvβ3, and components of Weibel Palade bodies (WPB), such as Angiopoietin-2 and Galectin-3, whose storage is regulated by VWF; these converge on the master regulator of angiogenesis and endothelial homeostasis, vascular endothelial growth factor (VEGF) signalling. Recent studies suggest that the roles of VWF may be tissue-specific. The ability of VWF to regulate angiogenesis has clinical implications for a subset of VWD patients with severe, intractable gastrointestinal bleeding due to vascular malformations. In this article, we review the evidence showing that VWF is involved in blood vessel formation, discuss the role of VWF high molecular weight multimers in regulating angiogenesis, and the value of studies on BOEC in developing a precision medicine approach to validate novel treatments for angiodysplasia in congenital VWD and acquired von Willebrand syndrome. Copyright © 2018 American Society of Hematology.

  1. Effects of sorption agents on heavy metal release form incinerator slag; Laesst sich die Freisetzung von Schwermetallen aus MVA-Schlacken durch Zugabe von Sorbenten veraendern?

    Energy Technology Data Exchange (ETDEWEB)

    Heiser, U. [Johannes Gutenberg-Univ. Mainz, Mainz (Germany); Kersten, M. [Johannes Gutenberg-Univ. Mainz, Mainz (Germany). Inst. fuer Geowissenschaften

    2003-11-01

    It was investigated inhowfar additions of sorption agents will influence the solution of heavy metals in incinerator slag. [German] Es wurde untersucht, ob nicht durch Zugabe bestimmter Stoffe zur Muellschlacke die Loesung von Schwermetallen beschleunigt werden kann. (orig.)

  2. Von Systemkritik zur Anpassung : Wie ein Buch in der Übersetzung die Farbe wechselt / Marianne Vogel

    Index Scriptorium Estoniae

    Vogel, Marianne

    2002-01-01

    Arvustus: Vetemaa, Enn. Die Nixen von Estland : ein Bestimmungsbuch / frei nach E. Vetemaa ; bearbeitet und illustriert von Kat Menschik ; nach dem russischen Übersetzungsmanuskript ins Deutsche übertragen von Günter Jäniche. Frankfurt/M : Eichborn Verlag, 2002.

  3. "Romeo ja Julia" Liivimaa moodi? Barbara von Tiesenhauseni legend : ajalooline tagapõhi ja kirjanduslikud variatsioonid / Juhan Kreem, Liina Lukas

    Index Scriptorium Estoniae

    Kreem, Juhan

    2008-01-01

    Käsitletakse järgnevaid ilukirjanduslikke teoseid: Fr. R. Kreutzwaldi ballaadi "Das Fräulein von Borkholm", Th. H. Panteniuse romaani "Die von Kelles" (e.k. "Kelleste omad. Romaan Liivimaa minevikust"), Marie Underi ballaadi "Porkuni preili", Aino Kallase novelli "Barbara von Tiesenhusen" ja Maimu Bergi romaani "Kirjutajad"

  4. Transpersonale Aspekte von Musik und Imagination in der Traumatherapie

    DEFF Research Database (Denmark)

    Maack, Carola

    2013-01-01

    Guided Imagery and Music nach Helen Bonny (GIM) und ihre Modifikationen haben sich in der Traumatherapie als sehr effektiv herausgestellt. In meinem Vortrag werde ich die Methode und ihre Anwendungen in der Traumatherapie vorstellen. Dabei gehe ich auch auf die Abgrenzung von Imagination im...... personalen und traunspersonalen Raum und deren jeweilige Bedeutung für traumatisierte Menschen in der unterschiedlichen Phasen ihrer Therapie ein. [The Bonny Methode of Guided Imagery and Music (GIM) and its modifications have shown to be quite effective in trauma therapy. In my presentation I will give...

  5. Otto von Guericke and 17th century cosmology

    Science.gov (United States)

    Knobloch, Eberhard

    Otto von Guericke's scientific method was based on reason and experimental science. His cosmology was embedded in theology and can be interpreted as a refutation of Descartes' worldview. He used Nicolaus Cusanus' theory of quantities in order to characterize space. The notion of space has to be distinguished from that of world or heaven. Forces play a crucial role in this respect described by Athanasius Kircher in his "Celestial Journey". Guericke read this work very diligently. In spite of some obvious similarities between Guericke's and Newton's scientific aims and methods there are crucial differences between the scientific convictions and results of these scholars.

  6. Digitale Transformation, aber wie? - Von der Spielwiese zur Umsetzungsplanung

    Science.gov (United States)

    Kaiser, Thomas

    Es besteht wohl kaum Anlass zur Annahme, dass die seit Jahrzehnten etablierten Markt- und Technologiestrukturen der Energiewirtschaft sich nicht in einem radikalen Ablöseprozess mit Gewinnern und Verlierern befinden. Aber Vorsicht - vordergründig bereits verloren erscheinende Geschäftsmodelle erfahren im Zuge der Digitalisierung einerseits noch intensiveren Wettbewerbsdruck, können aber andererseits von diesem "technologischen Jungbrunnen" profitieren, um verlorenes Terrain zurückzugewinnen. Im folgenden Kapitel wird ein Managementzyklus aufgezeigt, der in Anlehnung an die bereits erfolgreiche Implementierung digitaler R/Evolutionen anderer Branchen aufzeigt, wie die Geschäftsleitung systematisch kostenbewusst und zielorientiert die Digitalisierung umsetzen kann.

  7. Nachweis von Verticillium dahliae an Pfefferminze (Mentha x piperita L.

    Directory of Open Access Journals (Sweden)

    Gärber, Ute

    2014-09-01

    Full Text Available In Beständen von Pfefferminze wurden Krankheitssymptome beobachtet, die sich in Wuchshemmungen, Stängelverbräunungen, Blattchlorosen und Welke zeigten. Teilweise starben die Pflanzen bzw. einzelne Triebe ab. Als Ursache konnte Verticillium dahliae nachgewiesen werden. In einem Infektionsversuch im Gewächshaus wurden sieben Wochen alte Pfefferminzpflanzen der Sorte Multimentha durch Angießen mit einer Konidiensuspension (106 Konidien/ml Suspension inokuliert. Erste Krankheitssymptome erschienen acht Wochen nach Inokulation. Innerhalb kurzer Zeit nahm der Befall stark zu. Aus den kranken Pflanzenteilen wie Stängel und Blatt konnte der Erreger reisoliert werden.

  8. Inadequacy of von Neumann entropy for characterizing extractable work

    International Nuclear Information System (INIS)

    Dahlsten, Oscar C O; Renner, Renato; Rieper, Elisabeth; Vedral, Vlatko

    2011-01-01

    The lack of knowledge that an observer has about a system limits the amount of work it can extract. This lack of knowledge is normally quantified using the Gibbs/von Neumann entropy. We show that this standard approach is, surprisingly, only correct in very specific circumstances. In general, one should use the recently developed smooth entropy approach. For many common physical situations, including large but internally correlated systems, the resulting values for the extractable work can deviate arbitrarily from those suggested by the standard approach.

  9. Zum Bau und histologischen Terminologie von Laubmoosstämmchen

    OpenAIRE

    Frahm, Jan-Peter; Müller, Rolf-Dieter

    2012-01-01

    Es wird ein historischer Abriss der Geschichte der anatomischen Forschung an Moosen gegeben, der Aufbau von Laubmoosstämmchen skizziert und speziell die unterschiedliche Terminologie der Gewebetypen diskutiert. Der weit verbreitete Ausdruck Epidermis kann nicht auf Moose angewandt werden, weil die äußerste Schicht des Stämmchens nicht die Definiton des Begriffes erfüllt, verdickt und längsgestreckt ist. Sie gehört zur äußeren Sklerodermis. Längsgestreckt ist auch das sog. Parenchym oder Mark...

  10. Technische Feuchtgebiete zur Nachreinigung von Abwasser:Stickstoff, Abwasserdesinfektion, Spurenstoffe

    OpenAIRE

    Rühmland, Sabine

    2015-01-01

    Stickstoff, Spurenstoffe und Krankheitserreger können auch in geringen Mengen Schäden in Gewässern bzw. beim Menschen verursachen. In dieser Arbeit soll geklärt werden, inwieweit das naturnahe Abwasserreinigungsverfahren der technischen Feuchtgebiete zur Nachreinigung von Abwasser geeignet ist. Dafür wurden in Berlin sieben bewachsene Bodenfilter und Abwasserteiche im techni-schen Maßstab einer Kläranlage mit Nährstoffelimination nachgeschaltet. Ein Sandfilter, ein Sandfilter mit Lehm und...

  11. Anomalies free E-infinity from von Neumann's continuous geometry

    International Nuclear Information System (INIS)

    El Naschie, M.S.

    2008-01-01

    Von Neumann's continuous geometry has been considerably developed by Connes and is characterized by two fundamental concepts. First it is formulated without any direct reference to points and second it possesses a dimensional function. The present work explores the relevance of these two points to string theory as well as E-infinity theory. In particular we show that point-lessness and dimensional function implies fractality. In turn fractality leads to the concept of average or fuzzy symmetry and the elimination of gauge anomalies

  12. Funktionalisierung von Nanodiamanten für Wirkstofftransport und Knochenersatzmaterialien

    OpenAIRE

    Waag, Thilo

    2013-01-01

    Ziel der vorliegenden Arbeit ist das Design, die Synthese und das anschließende Testen von Nanodiamant-Wirkstoff-Konjugaten. Dafür müssen zunächst Nanodiamanten mit geeigneten Linkersystemen funktionalisiert werden, um anschließend verschiedene pharmazeutische Wirkstoffe auf der Diamantoberfläche zu immobilisieren. Die Wirksamkeit der so angebundenen Inhibitoren auf die verschiedenen Erreger muss anschließend in vitro und in vivo getestet werden. Auch die Art der Aufnahme der Nanodiaman...

  13. Ultraweak Continuity of σ-derivations on von Neumann Algebras

    International Nuclear Information System (INIS)

    Mirzavaziri, Madjid; Moslehian, Mohammad Sal

    2009-01-01

    Let σ be a surjective ultraweakly continuous *-linear mapping and d be a σ-derivation on a von Neumann algebra. We show that there are a surjective ultraweakly continuous *-homomorphism and a Σ-derivation such that D is ultraweakly continuous if and only if so is d. We use this fact to show that the σ-derivation d is automatically ultraweakly continuous. We also prove the converse in the sense that if σ is a linear mapping and d is an ultraweakly continuous *-σ-derivation, then there is an ultraweakly continuous linear mapping such that d is a *-Σ-derivation

  14. Bernstein - Von Mises theorem and its application in survival analysis

    Czech Academy of Sciences Publication Activity Database

    Timková, Jana

    2010-01-01

    Roč. 22, č. 3 (2010), s. 115-122 ISSN 1210-8022. [16. letní škola JČMF Robust 2010. Králíky, 30.01.2010-05.02.2010] R&D Projects: GA AV ČR(CZ) IAA101120604 Institutional research plan: CEZ:AV0Z10750506 Keywords : Cox model * bayesian asymptotics * survival function Subject RIV: BB - Applied Statistics, Operational Research http://library.utia.cas.cz/separaty/2010/SI/timkova-bernstein - von mises theorem and its application in survival analysis.pdf

  15. Von Blüten, Göttern und Gelehrten

    OpenAIRE

    Zotter, Astrid

    2013-01-01

    Der Sanskrittext Puṣpacintāmaṇi (PuCi) behandelt Blüten als Darbringungen (upacāra) im wichtigsten hinduistischen Verehrungsritual, der pūjā. In ca. 400 Strophen werden über 200 Namen von Blüten genannt und für verschiedene Gottheiten und pūjās als geeignete oder ungeeignete Gaben vorgeschrieben. Der Text ist eine Kompilation (Nibandha), in der die Inhalte aus 47 namentlich genannten Quellentexten referiert werden. Ziel der Dissertation ist es nicht nur, diesen Text, der 1966 zum ersten Ma...

  16. Content Management von Leittexten mit XML Topic Maps

    Directory of Open Access Journals (Sweden)

    Johannes Busse

    2003-07-01

    Full Text Available Die Autoren definieren den Umgang mit internet- basierten Informations- und Kommunikationstechnologien als Schlüsselqualifikation für Studierende aller Fachrichtungen. Im vorliegenden Aufsatz beschreiben sie ein Projekt, das der Fachbereich Erziehungswissenschaften der Universität Heidelberg seit 2001 durchführt. Hier werden Studierende der Geistes- und Sozialwissenschaften zu "Lernberatern" ausgebildet, die als Multiplikatoren die notwendigen Kenntnisse erwerben. Die Teilnehmenden erarbeiten nach der "Leittextmethode" selbstgesteuert xml-basierte Contents. Dies setzt den Erwerb von informationstechnischen Kenntnissen voraus, der neben dem Aufbau eines (sowohl technischen als auch sozialen Netzwerks einen Schwerpunkt bildet.

  17. Artificial Intelligence : Akzeptanz und Wahrnehmung von Chatbots im Kundendienst

    OpenAIRE

    Los, Caroline

    2017-01-01

    Der Technologiewandel und die Digitalisierung trugen in den letzten Jahren stark zur Veränderung des gesellschaftlichen und unternehmerischen Lebens bei. Die Erwartungen der Menschen immer und überall auf die nötigen Informationen zugreifen zu können, steigen von Tag zu Tag. Der hohe Internetkonsum und die stetige Erreichbarkeit der Menschen bieten den Unternehmungen immer neue Möglichkeiten ihre Dienste zu erweitern. Um diesen Ansprüchen gerecht werden zu können, wird der Kund...

  18. An ELISA for the quantitation of von Willebrand Factor

    DEFF Research Database (Denmark)

    Vinholt, Pernille Just; Overgaard, Martin; Diederichsen, Axel Cosmus Pyndt

    2013-01-01

    for measurement of von Willebrand factor-osteoprotegerin complex (VWF:OPG) in human plasma. Furthermore, the significance of VWF:OPG complex as a marker of cardiovascular disease (CVD) was evaluated. PATIENTS/METHODS: A sandwich ELISA for quantification of VWF:OPG was developed using a polyclonal rabbit anti...... with and without documented coronary calcification (total n=118). RESULTS AND CONCLUSIONS: The assay detected VWF:OPG complexes in human plasma, while no significant signal was observed when testing solutions containing VWF or recombinant OPG alone. Importantly, the ELISA assay was able to detect in vitro formed...

  19. Thermal cell solubilization of excess sludge; Thermischer Zellaufschluss von Ueberschussschlamm

    Energy Technology Data Exchange (ETDEWEB)

    Duennebeil, A. [LIMUS Umwelttechnik GmbH, Berlin (Germany)

    1999-07-01

    Thermal cell solubilization of excess sludge has the following impact on subsequent digestion: cut in the mass of solids to be disposed of, enhancement of gas production and dewatering efficiency, stabilization of the digestion process, reduction of the tendency for foam formation. This does not require additional energy in an amount worth mentioning. (orig.) [German] Durch thermischen Zellaufschluss von Ueberschussschlamm wird in der nachfolgenden Faulung - die zu entsorgende Feststoffmasse reduziert - die Gasproduktion und - der Entwaesserungsgrad gesteigert sowie - der Faulbetrieb stabilisiert und - die Neigung zur Schaumbildung verringert. Dafuer ist keine nennenswerte, zusaetzliche Energie erforderlich. (orig.)

  20. von Neumann entropy associated with the haldane exclusion statistics

    International Nuclear Information System (INIS)

    Rajagopal, A.K.

    1995-01-01

    We obtain the von Neumann entropy per state of the Haldane exclusion statistics with parameter g in terms of the mean occupation number bar n{wlnw-(1+w)ln(1+w)}, where w=(1-bar n). This reduces correctly to the well known expressions in the limiting cases of Bose (g=0) and Fermi (g=1) statistics. We have derived the second and third order fluctuations in the occupation numbers for arbitrary g. An elegant general duality relationship between the w factor associated with the particle and that associated with the hole at the reciprocal g is deduced along with the attendant relationship between the two respective entropies

  1. Realisierung von Schienenbahnen in Entwicklungsländern

    OpenAIRE

    Dayoub, Abed Al Majeed

    2012-01-01

    Heutzutage ist die Mobilität als ein Indikator für die wirtschaftliche Entwicklung eines Landes anzusehen. Mobilität bedeutet Wachstum und Beschäftigung für die Wirtschaft, Freiheit und Lebensqualität für die Menschen. Das ist unmittelbar abhän-gig von der Leistungs- und Wettbewerbsfähigkeit der Verkehrssysteme. Eines der Grundprobleme der Entwicklungsländer (EL) ist die Verkehrssituation. Die Verbesserung der inneren Lebensverhältnisse, der internationalen Verflechtung unter Berücksichtigung...

  2. Gewaltenteilung im Rechsstaat und europäische Geschichte. 3 : Vorträge am Staatsgerichtshof und am Historischen Seminar der Universität Tartu (Dorpat)/Estland / Ingo von Münch, Niels von Redecker ; Forum Academicum Inter Nationes ; Roela Uemõisa

    Index Scriptorium Estoniae

    Münch, Ingo von

    1998-01-01

    Sisaldab: Die Gewaltenteilung im Rechtstaat = Võimude lahususe printsiip õigusriigis / Ingo von Münch ; Can we have a European history / Niels von Redecker ; The Ostpolitik of Willy Brandt / Niels von Redecker

  3. Energy generation from biomass with the aid of fuel cells; Energetische Nutzung von Biomasse mit Brennstoffzellenverfahren

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1999-07-01

    To provide an opportunity for information exchange at the interface between biomass use for energy generation and developers of fuel cells, the workshop 'Energy generation from biomass with the aid of fuel cells' was held by the Fachagentur Nachwachsende Rohstoffe on 9 and 10 December 1998. The lectures and discussions permit to assess better the opportunities and restraints resulting from the use of biogenous fuel gas in fuel cells. (orig.) [German] Um an der Schnittstelle zwischen der energetischen Nutzung von Biomasse und den Entwicklern von Brennstoffzellen einen Informationsaustausch zu ermoeglichen, wurde am 9. und 10. Dezember 1998 der Workshop 'Energetische Nutzung von Biomasse mit Brennstoffzellenverfahren' von der FNR veranstaltet. Die Vortraege und die Diskussion erlauben eine bessere Einschaetzung der Moeglichkeiten und Restriktionen, die sich bei dem Einsatz von biogenen Brenngasen in Brennstoffzellen ergeben. (orig.)

  4. Challenge the science-stereotype. Der Einfluss von Technik-Freizeitkursen auf das Naturwissenschaften-Stereotyp von Schülerinnen und Schülern

    OpenAIRE

    Hannover, Bettina; Kessels, Ursula

    2002-01-01

    Der Aufsatz untersucht Aspekte von Kultur, die die individuelle Interessen- und Leistungsentwicklung von Schülerinnen und Schülern prägen ... . Es stehen die Kulturen spezifischer Schulfächer im Vordergrund. Im Aufsatz werden kulturell geteilte Annahmen über mathematisch- naturwissenschaftliche Schulfächer im Unterschied zu geistes- und sozialwissenschaftlichen Disziplinen untersucht; nämlich stereotype Vorstellungen über den Gegenstandsbereich, über Unterrichtsscripts, über typische Lehrpers...

  5. Evaluation of von Willebrand factor during pregnancy, lactation and oestrous cycle in bitches affected and unaffected by von Willebrand disease.

    Science.gov (United States)

    Mattoso, C R S; Takahira, R K; Beier, S L; Araujo, J P; Corrente, J E

    2013-06-01

    Plasmatic concentrations of von Willebrand Factor (vWF) increase during pregnancy in humans and dogs; however the mechanism of such increase is still not well defined. The aims of this study were: (i) to evaluate changes in vWF concentration during pregnancy and during the subsequent oestrous cycle in bitches affected and unaffected by von Willebrand Disease (vWD); (ii) to correlate the vWF levels and cortisol levels in both groups. Seven vWD affected (GI) and nine unaffected (GII) bitches were used. The animals were assessed during pregnancy, parturition, lactation and non-gestational oestrous cycle in 11 moments (Pregnancy 1, Pregnancy 2, Parturition, Lactation 1, Lactation 2, Lactation 3, Anestrus, Proestrus, Oestrus, Diestrus 1, and Diestrus 2). The following tests were performed; measurement of von Willebrand factor antigen (vWF:Ag), albumin and cortisol. In both groups, vWF concentration remained stable during the non-gestational oestrous cycle, but increased during pregnancy, with the highest value observed at parturition. Increases of 70% and 124% in vWF were seen in GI and GII, respectively, compared to anestrus. No correlation was found between vWF and cortisol. Values of vWF:Ag changed during pregnancy, with a peak at parturition, both in vWD affected and unaffected animals. Values of vWF were not altered in the different phases of the oestrous cycle following pregnancy in both groups. Evaluation of vWF during pregnancy can cause false negative results for vWD, but assessment can be performed at any point in the oestrous cycle of non-pregnant bitches. © 2012 Blackwell Verlag GmbH.

  6. Characterization of a novel mutation in the von Willebrand factor propeptide in a distinct subtype of recessive von Willebrand disease

    DEFF Research Database (Denmark)

    Lanke, Elsa; Kristoffersson, Ann-Charlotte; Philips, Malou

    2008-01-01

    von Willebrand factor (VWF) is a plasma protein that consists of a series of multimers of which the high-molecular-weight VWF multimers are the most potent in platelet adhesion and aggregation. The propeptide of the VWF (VWFpp) is known to be essential in the process of multimer assembly. Genetic...... mutation in the VWFpp abolishes multimerization of VWF. The mutation probably disrupts the normal configuration of the VWFpp, which is essential for correct orientation of the protomers and ultimately multimerization. The mutant amino acid is located in a region that is highly conserved across several...

  7. Determination of negligible concentration threshold values for water pollution assessment; Ableitung von Geringfuegigkeitsschwellen zur Beurteilung von Grundwasserverunreinigungen

    Energy Technology Data Exchange (ETDEWEB)

    Trenck, K.T. von der [Landesanstalt fuer Umweltschutz Baden-Wuerttemberg, Karlsruhe (Germany); Roeder, R.; Slama, H. [Bayerisches Landesamt fuer Wasserwirtschaft, Muenchen (Germany); Markard, C.; Kuehl, C. [Umweltbundesamt, Berlin (Germany)

    1999-06-01

    The contribution summarizes the major aspects of results and proposals elaborated by a working group: Criteria for derivation of the negligible concentration threshold, and proposed threshold values for organic and inorganic substances dangerous to water. Evaluation criteria are explained for assessing human toxicity as well as ecotoxicity, and substance-specific evaluation criteria are listed. (orig./CB) [Deutsch] Hauptpunkte des Beitrags, der die Ergebnisse eines Arbeitskreises erlaeutert, sind: Ableitungskriterien fr die Geringfuegigkeitsschwelle und Vorschlag von Geringfuegigkeitsschwellen fr organische und anorganische Wasserschadstoffe. Darstellung der humantoxischen Bewertungskriterien, sowie oekotoxische Bewertungskriterien. Zusammenstellung der stoffspezifischen Bewertungskriterien. (orig./AJ)

  8. A visit paid to Jung by Alwine von Keller.

    Science.gov (United States)

    Bernardini, Riccardo; Quaglino, Gian Piero; Romano, Augusto

    2011-04-01

    In the winter of 1943-1944, Jung had suffered a coronary thrombosis which almost cost him his life. During his illness, Jung experienced a series of visions, described in his Memories, Dreams, Reflections, which were also to influence significantly the development of his theoretical thinking. On 27(th) September 1944, Alwine von Keller (1878-1965) paid a visit to Jung, while he was still convalescing, in Zurich and documented her meeting with him in a series of notes, recently discovered, which testify to the fact that, at the time of their meeting, Jung was engaged in writing the 'Salt' chapter of Mysterium coniunctionis and investigating the alchemistic symbolism of the 'sea'. This theme seems to testify to a continuity of interests on Jung's part with the seminar he held at Eranos the previous year on the cartographic art of Opicinus de Canistris (1296-c.1352). With its addition of many unpublished details, Alwine von Keller's notes supplement the report which Jung made of his visions experienced during his sickness in MDR. In particular, these attest to the fact that Jung had attributed the terrible experience which he had endured to the problem of the conjunctio, which was confronting him from the theoretical point of view in his writing of Mysterium coniunctionis. © 2011, The Society of Analytical Psychology.

  9. BASED TO CLINICAL CASE. VON HIPLEA-LINDAU SYNDROME

    Directory of Open Access Journals (Sweden)

    Brzeziński Piotr

    2011-01-01

    Full Text Available von Hippel-Lindau syndrome (VHL is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis. The tumors of the central nervous system (CNS are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs and/or tumors (benign or cancerous may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer. Based on the case of 30-year old patient with characteristics of von Hippel-Lindau syndrome as phakomatosis.

  10. von Willebrand factor, Jedi knight of the bloodstream.

    Science.gov (United States)

    Springer, Timothy A

    2014-08-28

    When blood vessels are cut, the forces in the bloodstream increase and change character. The dark side of these forces causes hemorrhage and death. However, von Willebrand factor (VWF), with help from our circulatory system and platelets, harnesses the same forces to form a hemostatic plug. Force and VWF function are so closely intertwined that, like members of the Jedi Order in the movie Star Wars who learn to use "the Force" to do good, VWF may be considered the Jedi knight of the bloodstream. The long length of VWF enables responsiveness to flow. The shape of VWF is predicted to alter from irregularly coiled to extended thread-like in the transition from shear to elongational flow at sites of hemostasis and thrombosis. Elongational force propagated through the length of VWF in its thread-like shape exposes its monomers for multimeric binding to platelets and subendothelium and likely also increases affinity of the A1 domain for platelets. Specialized domains concatenate and compact VWF during biosynthesis. A2 domain unfolding by hydrodynamic force enables postsecretion regulation of VWF length. Mutations in VWF in von Willebrand disease contribute to and are illuminated by VWF biology. I attempt to integrate classic studies on the physiology of hemostatic plug formation into modern molecular understanding, and point out what remains to be learned. © 2014 by The American Society of Hematology.

  11. Diagnosis of colorectal tumors; Diagnostik von kolorektalen Tumoren. Mehrschichtcomputertomographie

    Energy Technology Data Exchange (ETDEWEB)

    Vogl, T.J.; Pegios, W.; Jacobi, V.; Schaefer, S.; Abolmaali, N.; Luboldt, W. [Institut fuer Diagnostische und Interventionelle Radiologie, Johann-Wolfgang-Goethe-Universitaet Frankfurt (Germany)

    2003-02-01

    With the introduction of multislice CT extensive volumetric data sets can be quickly acquired in high spatial resolution. The high spatial resolution reduces partial volume effects and enables multiplanar reconstructions. Regarding the colorectum this means that the colon can be assessed if the colon is sufficiently cleaned and distended, and that transmural infiltration of colorectal carcinoma and liver metastases can be better detected. T-staging of colon cancer is less important than T-staging of rectal cancer. Based on the higher contrast MRI is superior to CT in T-staging of rectal cancer and in the differentiation between scarring tissue and recurrence of carcinoma. (orig.) [German] Mit Einfuehrung der Mehrschicht-CT lassen sich umfangreiche Volumendatensaetze schnell und mit hoher Aufloesung erfassen. Die hohe raeumliche Aufloesung reduziert Teilvolumeneffekte und ermoeglicht multiplanare Rekonstruktionen. In Bezug auf das Kolorektum bedeutet dies, dass das Kolon bei ausreichender Darmreinigung und -distension gut beurteilbar ist und transmurale Infiltrationen von kolorektalen Karzinomen sowie Lebermetastasen leichter zu erkennen sind.Bei Kolonkarzinomen hat das T-Staging weniger klinische Relevanz als bei Rektumkarzinomen. Aufgrund des hoeheren Kontrasts ist die MRT der CT im T-Staging von Rektumkarzinomen sowie in der Unterscheidungzwischen Narben- und Rezidivtumorgewebe ueberlegen. (orig.)

  12. Von Braun Rocket Team at Fort Bliss, Texas

    Science.gov (United States)

    1940-01-01

    The German Rocket Team, also known as the Von Braun Rocket Team, poses for a group photograph at Fort Bliss, Texas. After World War II ended in 1945, Dr. Wernher von Braun led some 120 of his Peenemuende Colleagues, who developed the V-2 rocket for the German military during the War, to the United Sttes under a contract to the U.S. Army Corps as part of Operation Paperclip. During the following five years the team worked on high altitude firings of the captured V-2 rockets at the White Sands Missile Range in New Mexico, and a guided missile development unit at Fort Bliss, Texas. In April 1950, the group was transferred to the Army Ballistic Missile Agency (ABMA) at Redstone Arsenal in Huntsville, Alabama, and continued to work on the development of the guided missiles for the U.S. Army until transferring to a newly established field center of the National Aeronautic and Space Administration (NASA), George C. Marshall Space Flight Center (MSFC).

  13. Die Bedeutung von Musiker- und Komponistenbriefe für die regionale und europäische Kulturgeschichte

    Directory of Open Access Journals (Sweden)

    Buschmeier Gabriele

    2002-01-01

    Full Text Available (nemački Die Entwicklung der Musikkultur insbesondere in Mittel- und Osteuropa ist von einem äußerst regen Austausch und lebendigen Beziehungen gekennzeichnet. Die Dokumente dieser Beziehungen sind zum Teil die erhaltene Briefe. Für den Musikwissenschaftler sind dabei alle Arten von Briefen sowohl privaten als auch geschäftlichen Charakters, von Interesse und zwar nicht nur Briefe von den sogenannten "Heroen" der Musikgeschichte, sondern insbesondere auch von nur lokal bekannten Musikern oder Menschen, die sich mit Musik beschäftigen.

  14. Phenotypic correction of von Willebrand disease type 3 blood-derived endothelial cells with lentiviral vectors expressing von Willebrand factor

    Science.gov (United States)

    De Meyer, Simon F.; Vanhoorelbeke, Karen; Chuah, Marinee K.; Pareyn, Inge; Gillijns, Veerle; Hebbel, Robert P.; Collen, Désiré; Deckmyn, Hans; VandenDriessche, Thierry

    2006-01-01

    Von Willebrand disease (VWD) is an inherited bleeding disorder, caused by quantitative (type 1 and 3) or qualitative (type 2) defects in von Willebrand factor (VWF). Gene therapy is an appealing strategy for treatment of VWD because it is caused by a single gene defect and because VWF is secreted into the circulation, obviating the need for targeting specific organs or tissues. However, development of gene therapy for VWD has been hampered by the considerable length of the VWF cDNA (8.4 kb [kilobase]) and the inherent complexity of the VWF protein that requires extensive posttranslational processing. In this study, a gene-based approach for VWD was developed using lentiviral transduction of blood-outgrowth endothelial cells (BOECs) to express functional VWF. A lentiviral vector encoding complete human VWF was used to transduce BOECs isolated from type 3 VWD dogs resulting in high-transduction efficiencies (95.6% ± 2.2%). Transduced VWD BOECs efficiently expressed functional vector-encoded VWF (4.6 ± 0.4 U/24 hour per 106 cells), with normal binding to GPIbα and collagen and synthesis of a broad range of multimers resulting in phenotypic correction of these cells. These results indicate for the first time that gene therapy of type 3 VWD is feasible and that BOECs are attractive target cells for this purpose. PMID:16478886

  15. Behaviour of metals during the thermal conversion of Chinese reed; Verhalten von Metallen bei der thermischen Nutzung von Schilfgras

    Energy Technology Data Exchange (ETDEWEB)

    Klensch, S.; Reimert, R. [Karlsruhe Univ. (T.H.) (Germany). Engler-Bunte-Institut Bereich 1 - Gas, Erdoel und Kohle

    1998-12-31

    limit values shows that a returning of the fly ash on forest areas is generally possible. Due to the high content of Zn of 1100 mg/kg in the fly ash a returning to agricultural areas is not allowed. (orig.) [Deutsch] Bei den Konversionsverfahren (Vergasung und Verbrennung) zur thermischen Nutzung von Biomasse sollen die anfallenden Rueckstaende (Aschen) moeglichst als Duengemittel auf Forst- oder Agrarflaechen zurueckgefuehrt aber keinesfalls deponiert werden. Hierzu duerfen insbesondere die Schwermetallkonzentrationen in den Aschen gewisse Grenzwerte nicht ueberschreiten. Zur Untersuchung des Schwermetallverhaltens bei der Umwandlung von Biomassen werden Messungen zum Einfluss der Konversionstemperatur (1000-1300 C), der Gasatmosphaere (reduzierend, oxidierend) und der Entstaubungstemperatur (300-750 C) in einer halbtechnischen Anlage bei einem Systemdruck von 1,2 bar durchgefuehrt. Kernstuecke der Anlage sind ein Flugstromreaktor (Reaktionslaenge 2500 mm, Innendruchmesser 70 mm) und ein Kerzenfilter mit 6 Filterelementen vom Typ DIA-Schumalith 10-20 (60/40 x 1500). Der Biomassestrom betraegt 6 kg/h. Die Ergebnisse der Schilfgrasvergasung werden als Mittelwerte ueber den Temperaturbereich von 1000 bis 1160 C bei einer konstanten Filtertemperatur von 550 C in Form von Metallkonzentrationen der Elemente Si, Al, Ca, Fe, Mg, Na, K, Pb, Zn, Cr, Cu und Ni in Schilfgrasasche, Schlacke, Flugasche und Produktgas angegeben. Die Angabe von An- und Abreicherungsfaktoren fuer die verschiedenen Elemente in Flugasche und Schlacke verdeutlichen das Verhalten der Metalle waehrend des Konversionsprozesses. Die Konzentrationen der nichtfluechtigen bzw. schwerfluechtigen Elemente Si, Al, Ca, Fe, Mg und K sind in der Schilfgrasasche, in der Schlacke und in der Flugasche nahezu gleich. Die Konzentrationen der umweltrelevanten Schwermetalle Cr, Pb und Zn sind jeweils in der Schlacke zum Teil deutlich niedriger als in der Schilfgrasasche. Diese Schwermetalle reichern sich in der Flugasche an

  16. Konzepte und Methoden zur Qualitätssicherung bei der Produktion von hypertextuellen Online-Lernumgebungen

    Directory of Open Access Journals (Sweden)

    Christian Swertz

    2002-04-01

    Full Text Available Die didaktische Ontologie der Webdidaktik ermöglicht die Qualitätssicherung von Prozessen und Ergebnissen bei der Produktion von Online- Lernumgebungen. Die Qualität wird durch die am pädagogischen Prozess beteiligten Menschen bestimmt. Der Qualitätssicherungsprozess kann durch Software unterstützt werden. Für diese Prozesse der Qualitätssicherung bringt der Autor Beispiele aus dem Lerndorf (www.lerndorf.de und der Lernumgebung des von der Deutschen Bundesstiftung Umwelt geförderten Forschungs- und Entwicklungsprojekt «Zentrum für Umweltwissen und Bildung» (ZUB.

  17. Effects of landfills on the limnology of associated running waters; Gefaehrdung von Oberflaechengewaessern durch Altablagerungen

    Energy Technology Data Exchange (ETDEWEB)

    Baier, B. [Hohenheim Univ., Stuttgart (Germany). Inst. fuer Zoologie; Kappus, B. [Hohenheim Univ., Stuttgart (Germany). Inst. fuer Zoologie; Boehmer, J. [Hohenheim Univ., Stuttgart (Germany). Inst. fuer Zoologie; Nill, A. [Hohenheim Univ., Stuttgart (Germany). Inst. fuer Zoologie; Rahmann, H. [Hohenheim Univ., Stuttgart (Germany). Inst. fuer Zoologie

    1997-10-01

    Five small brooks influenced by runoff from landfills were surveyed from May 1993 to March 1994 using chemical and biological methods. Results showed clear impacts on the macroinvertebrate fauna as a result of pollutants in three of the five brooks studied. (orig.) [Deutsch] Im Einflussbereich von Altdeponien wurden fuenf kleine Fliessgewaesser von Mai 1993 bis Maerz 1994 wasserchemisch und biologisch untersucht. Anhand der Untersuchungsergebnisse wurde eine Gefaehrdungsabschaetzung der Oberflaechengewaesser durch die Altablagerungen vorgenommen. Danach waren bei drei der fuenf untersuchten Deponien aufgrund von Schadstoffeintraegen Auswirkungen auf die Makrobenthosfauna der angrenzenden Fliessgewaesser erkennbar. (orig.)

  18. Fragen - Nachfragen - Echofragen. Formen und Funktionen von Interrogationen im gesprochenen Deutsch

    Directory of Open Access Journals (Sweden)

    Rost-Roth, Martina

    2003-01-01

    Full Text Available Präsentiert werden Befunde aus einer empirischen Untersuchung zu Nachfragen und anderen Fragen in mündlichen Kommunikationen. Ausgangspunkt ist die Beobachtung, daß Beschreibungen von Nachfragen nur in geringer Zahl vorliegen, aus sehr unterschiedlichen Bereichen stammen (Konversationsanalyse, grammatische Beschreibungen von Fragen und Literatur zu Echofragen und sich Beschreibungen von Nachfrageformen sowie Nachfragefunktionen und die jeweils unterstellten Form-Funktions-Bezüge - auch in den einzelnen Bereichen - vielfach widersprechen. Vor diesem Hintergrund ist zentales Anliegen der Untersuchung, einen übergeordneten Analyserahmen für die Befassung mit Frageformen und Fragefunktionen zu entwickeln, der die Beschreibung von Nachfragen in einer allgemeineren Beschreibung von Interrogationen verortet. Das Besondere von Nachfragen wird darin gesehen, daß es sich um Interrogationen handelt, die auf andere sprachliche Äußerungen Bezug nehmen. Hier sind wiederum verschiedene Mittel zu unterscheiden, die für die Unterscheidung von Echofragen und anderen Nachfragen bestimmend sind. In diesem Zusammenhang wird gezeigt, daß auch der Art der Bezugnahme besondere Bedeutung für die Bestimmung von Nachfrageformen und Nachfragefunktionen zukommt. Anhand der Analysen von empirischen Fragevorkommen im gesprochenen Deutsch werden zunächst verschiedene 'Strukturtypen' differenziert. Die Vergleiche von Nachfragen und anderen Fragen zeigen vor allem Unterschiede in Hinblick auf die Frequenz verbloser und elliptischer Frageformulierungen. Daran anschließend werden Nachfragefunktionen im Bereich der Verständnissicherung sowie andere Nachfragefunktionen erörtert. Bei der Suche nach einem gemeinsamen Nenner für sehr unterschiedliche Nachfragefunktionen erweisen sich als zentrale Funktionsparameter :1. die Fokussierungsleistung (über die Bezugnahme auf vorausgehende Äußerungen der Gesprächspartner sowie 2. der Interrogativmodus (über die

  19. Zwei Briefe auf Guaraní in Alexander von Humboldts Handschrift

    Directory of Open Access Journals (Sweden)

    Manfred Ringmacher

    2014-12-01

    Full Text Available Gegenstand des Aufsatzes von Manfred Ringmacher sind zwei Briefe auf Guaraní in Alexander von Humboldts Handschrift. Die Originale der Abschriften wurden im Jahr 1800 in der ehemals jesuitisch betreuten Indianersiedlung Santa María la Mayor am Río Uruguay geschrieben und an den Vizekönig des spanischen Vizekönigreichs La Plata gesandt. Sie sind mit einer zeitgenössischen spanischen Übersetzung versehen; außerdem hat Alexander von Humboldt in französischer Sprache noch einige Erläuterungen gegeben.

  20. [Scientific theoretical founding of medicine as a natural science by Hermann von Helmholtz (1821-1894)].

    Science.gov (United States)

    Neumann, J N

    1994-01-01

    In this study an attempt will be made to discuss the epistemological problems in the theory and practice of modern technical medicine in the writings of Hermann von Helmholz. An inquiry into the relationship between von Helmholtz' thinking and the critical philosophy of Immanuel Kant is followed by the characteristics of von Helmholtz' philosophy of science which he himself called "empirical theory". The question of medicine as a science finally leads to the main problem of medical epistemology, viz., the relationship between theoretical knowledge and practice in medicine. In this context the anthropological dimension is brought into consideration.