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Two cases of variant late infantile ceroid lipofuscinosis in Jordan

World Journal of Clinical Cases 2019年第2期7卷 203-208页

作者： Omar Nafi Bashar Ramadan olaf riess Rebecca Buchert Tawfiq Froukh Department of Pediatrics Faculty of Medicine Mutah University Institute of Medical Genetics and Applied Genomics Rare Disease Center University of Tübingen Department of Biotechnology and Genetic Engineering Philadelphia University

BACKGROUND Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. The cases were initially considered as childhood disintegrative disorder(CDD); however, when whole exome sequencing(WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. This is the first report from *** SUMMARY Clinical presentation included developmental delay and initially speech delay,followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia(fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test,thyroid function test, and a brain computed tomography scan were also *** electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative *** This report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

关键词： Ceroid lipofuscinosis Childhood disintegrative disorder Lysosomal storage disorders Neurodegenerative disorders Variant late infantile Case report

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Automated Behavioral Phenotyping Reveals Presymptomatic Alterations in a SCA3 Genetrap Mouse Model

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Journal of Genetics and Genomics 2012年第6期39卷 287-299页

作者： Jeannette Hübener Nicolas Casadei Peter Teismann Mathias W. Seeliger Maria Bjrkqvist Stephan von Horsten olaf riess Huu Phuc Nguyen Department of Medical Genetics University of TubingenTubingen 72076Germany Institute of Medical Sciences University of AberdeenAB25 2ZDUK Division of Ocular Neurodegeneration Centre for OphthalmologyInstitute for Ophthalmic ResearchUniversity of TubingenTubingen 72076Germany Neuronal Survival Unit Department of Experimental Medical SciencesWallenberg Neuroscience CenterLund UniversityLund 221 84Sweden Experimental Therapy Franz-Penzoldt-CenterUniversity of Erlangen-NurnbergErlangen 91054Germany

Characterization of disease models of neurodegenerative disorders requires a systematic and comprehensive phenotyping in a highly standardized manner. Therefore, automated high-resolution behavior test systems such as the homecage based LabMaster system are of particular interest. We demonstrate the power of the automated LabMaster system by discovering previously unrecognized features of a recently characterized atxn3 mutant mouse model. This model provided neurological symptoms including gait ataxia, tremor, weight loss and premature death at the age of 12 months usually detectable just 2 weeks before the mice died. Moreover, using the LabMaster system we were able to detect hypoactivity in presymptomatic mutant mice in the dark as well as light phase. Additionally, we analyzed inflammation, immunological and hematological parameters, which indicated a reduced immune defense in phenotypic mice. Here we demonstrate that a detailed characterization even of organ systems that are usually not affected in SCA3 is important for further studies of pathogenesis and required for the preclinical therapeutic studies.

关键词： Automated homecage behavior Genetrap mouse model Spinocerebellar Ataxia Type 3

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Neutral and metallic *** and semiconducting surface layer in acceptor doped CeO_(2)

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International Journal of Minerals,Metallurgy and Materials 2024年第4期31卷 795-802页

作者： Ilan riess Physics Department Technion IITHaifa 3200003Israel

The monomolecular surface layer of acceptor doped CeO_(2) may become neutral and metallic or charged and *** is revealed in the theoretical analysis of the oxygen pressure dependence of the surface defects concentration in acceptor doped ceria with two different dopant types and operated under different oxygen *** published experimental data for highly reduced Sm0.2Ce0.8O1.9-x(SDC)containing a fixed valence dopant Sm3+are very different from those published for Pr0.1Ce0.9O_(2)-x(PCO) with the variable valence dopant Pr4+/Pr3+being reduced under milder *** theoretical analysis of these experimental results fits very well the experimental results of SDC and *** leads to the following predictions:the highly reduced surface of SDC is metallic and neutral,the metallic surface electron density of state is gs=0.9×10^(38)J-1·m^(-2)(1.4×1015eV^(-1)·cm^(-2)),the electron effective mass is meff,s=3.3me,and the phase diagram of the reduced surface has theα(fcc)structure as in the *** PCO a double layer is predicted to be formed between the surface and the bulk with the surface being negatively charged and *** surface of PCO maintains high Pr^(3+) defect concentration as well as relative high oxygen vacancy concentration at oxygen pressures higher than in the *** reasons for the difference between a metallic and semiconducting surface layer of acceptor doped CeO_(2) are reviewed,as well as the key theoretical considerations applied in coping with this *** that we make use of the experimental data and theoretical analysis available for acceptor doped ceria.

关键词： CeO_(2) surface defects metallic surface oxide reduction Sm doped CeO_(2) Pr doped CeO_(2)

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Influence of rotating wakes on separation in turbine exhaust diffusers

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Journal of Thermal Science 2008年第1期17卷 42-49页

作者： olaf Sieker Joerg R.Seume Department of Turbomachinery and Fluid Dynamics Leibniz University HannoverAppelstr.9DE-30167 HannoverGermany Dipl.-Ing. Department of Turbomachinery and Fluid Dynamics Leibniz University HannoverAppelstr.9DE-30167 HannoverGermany

Highly efficient turbine exhaust diffuser cannot be designed without taking into account the unsteady interactions with the last rotating row of the turbine. Former investigations described in the literature show a very high potential compared to that of other parts of turbomachines for improving the diffuser. A scale model of a typical gas turbine exhaust diffuser is investigated experimentally. To investigate the influence of rotating wakes, measurements without a spoke wheel as well as measurements with a variable-speed rotating cylindrical spoke wheel with 2 mm- or 10 mm-spokes simulating turbine rotor wakes were made. Miniaturized 3-hole pneumatic probes as well as a 2D-Laser-Doppler-Velocimeter （LDV） were used to investigate velocity profiles. 122 static pressure tapings were used to measure several axial and circumferential static pressure distributions. Without a spoke-wheel the annular diffuser separates at the shroud for all swirl configurations. For the measurements with the 2 mm spoke wheel, the separating diffuser was unstable while keeping the test rig operating parameters constant. For a non-rotating 10 mm spoke wheel and at rotational speeds less than 1,000 rpm, the annular diffuser separated at the shroud. Increasing the rotational speed of the 10mm spoke wheel, flow did not separate at the shroud and much higher pressure recovery than without spoke wheel has achieved.

关键词： turbine exhaust diffuser rotating wakes separation LDV

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Impacts of prenatal nutrition on animal production and performance： a focus on growth and metabolic and endocrine function in sheep

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Journal of Animal Science and Biotechnology 2018年第1期9卷 10-23页

作者： Prabhat Khanal Mette olaf Nielsen Department of Veterinary and Animal Sciences Faculty of Health and Medical SciencesUniversity of Copenhagen Gronnegardsvey 31st floorDK-1870 Frederiksberg CDenmark Department of Nutrition Faculty of MedicineTransgenic Animal and Lipid StorageNorwegian Transgenic Centre(NTS)University of OsloOsloNotway

The concept of foetal programming（FP） originated from human epidemiological studies, where foetal life nutrition was linked to health and disease status later in life. Since the proposal of this phenomenon, it has been evaluated in various animal models to gain further insights into the mechanisms underlying the foetal origins of health and disease in humans. In FP research, the sheep has been quite extensively used as a model for humans. In this paper we will review findings mainly from our Copenhagen sheep model, on the implications of late gestation malnutrition for growth, development, and metabolic and endocrine functions later in life, and discuss how these implications may depend on the diet fed to the animal in early postnatal life. Our results have indicated that negative implications of foetal malnutrition, both as a result of overnutrition and, particularly, late gestation undernutrition, can impair a wide range of endocrine functions regulating growth and presumably also reproductive traits. These implications are not readily observable early in postnatal life, but are increasingly manifested as the animal approaches adulthood. No intervention or cure is known that can reverse this programming in postnatal life. Our findings suggest that close to normal growth and slaughter results can be obtained at least until puberty in animals which have undergone adverse programming in foetal life, but manifestation of programming effects becomes increasingly evident in adult *** to the risk of transfer of the adverse programming effects to future generations, it is therefore recommended that animals that are suspected to have undergone adverse FP are not used for reproduction. Unfortunately, no reliable biomarkers have as yet been identified that allow accurate identification of adversely programmed offspring at birth,except for very low or high birth weights, and, in pigs, characteristic changes in head shape（dolphin head）. Future efforts should be therefo

关键词： Adipose tissue Endocrine function Foetal programming Metabolic function Sheep

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Effect of Different Calcination Temperatures and Post Annealing on the Properties of Acetic Acid Based Sol-Gel (Na_(0.5)K_(0.5))NbO_3(NKN) Thin Films

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Journal of Materials Science & Technology 2013年第2期29卷 142-148页

作者： Sebastian Wiegand Stefan Flege olaf Baake Wolfgang Ensinger Materials Analysis Group Department of Materials and Geosciences Technische Universitt Darmstadt Petersenstrasse 23 64287 Darmstadt Germany

（Na0.5K0.5）NbO3 （NKN） lead free thin films were synthesized by means of an acetic acid based sol-gel process on Pt/Ti/SiO2/Si substrates. Na-acetate, K-acetate and Nb-pentaethoxide were used as metal precursors and acetic acid as the solvent. The effect of different calcination temperatures on the properties of the NKN films was investigated by X-ray diffraction, scanning electron microscopy, leakage current and hysteresis measurements. Low calcination temperatures led to low currents at high electric fields whereas high calcination temperatures led to low currents at low electric fields. Based on these findings calcination at low temperature was combined with a post annealing treatment. Low leakage currents of 4×10^-4 A/cm2 at 150 kV/cm and 2Pr and 2Ec values of 28 μC/cm2 and 150 kV/cm, respectively, could be obtained. All films were single phase NKN with random crystal orientations and no crack or pore formation was visible on the surface.

关键词： Sol-gel process (Na0.5K0.5)NbO3 Thin film Perovskite Lead-free Piezo material

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Targeting leukemic fusion proteins with small interfering RNAs:recent advances and therapeutic potentials

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Acta Pharmacologica Sinica 2006年第3期27卷 273-281页

作者： Maria THOMAS Johann GREIL olaf HEIDENREICH Department of Molecular Biology Interfaculty Institute for Cell BiologyEberhard Karls University TuebingenAuf der Morgenstelle 1572076 TuebingenGermany Paediatric University Hospital Im Neuenheimer Feld 15369120 HeidelbergGermany

RNA interference has become an indispensable research tool to study gene func-tions in a wide variety of *** of their high efficacy and specificity,RNA interference-based approaches may also translate into new therapeutic stra-tegies to treat human *** particular,oncogenes such as leukemic fusionproteins,which arise from chromosomal translocations,are promising targets forsuch gene silencing approaches,because they are exclusively expressed in pre-cancerous and cancerous tissues,and because they are frequently indispensablefor maintaining the malignant *** review summarizes recent deve-lopments in targeting leukemia-specific genes and discusses problems andapproaches for possible clinical applications.

关键词： small interfering RNA small hairpin RNA RNA interference leukemic fusion genes leukemia

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Synthesis and Characterization of(Na_(0.5)K_(0.5))NbO_3(NKN) Thin Films Formed by a Diol-based Sol-gel Process

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Journal of Materials Science & Technology 2012年第6期28卷 500-505页

作者： Sebastian Wiegand Stefan Flege olaf Baake Wolfgang Ensinger Technische Universitt Darmstadt Department of Materials and GeosciencesMaterials Analysis GroupPetersenstrasse 2364287 DarmstadtGermany

Lead-free （***0.5）Nb03 （NKN） thin films were fabricated by spin coating on Pt/Ti/SiO2/Si substrates by a diol-based sol-gel process. Na-acetate, K-acetate, Nb-pentaethoxide and 1,3 propanediol were used to prepare the NKN precursor solution. Thermal analysis showed two characteristic temperatures of 360 and 600℃. Based on these temperatures, a heat treatment program with pyrolysis at 360℃ and calcination at 600℃ after every layer was used. To avoid inhomogeneities and secondary phases, an excess of sodium and potassium was necessary. To evaluate the proper excess amount of sodium and potassium secondary ion mass spectrometry （SIMS） lateral element maps and X-ray diffraction （XRD） patterns were recorded. An excess amount of 20% led to homogeneous distribution of the elements and to single phase perovskite NKN films with random crystal orientation. Scanning electron microscopy （SEMI images showed a pore free surface with 100 nm grains. The leakage current measurements showed a current of lx10-3 A/cm2 at 150 kV/cm.

关键词： Sol-gel process (Nao.sK0.5)NbO3 Thin film Perovskite Lead-free Piezo material

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Fatalities caused by novel opioids:a review

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Forensic Sciences Research 2019年第2期4卷 95-110页

作者： olaf H.Drummer Department of Forensic Medicine School of Public Health and Preventive MedicineFaculty of MedicineNursing and Health SciencesMonash UniversitySouthbankVictoriaAustralia

Drugs related to morphine represent not only large range of important therapeutic applications for the relief of moderate to severe pain but also give rise to a relatively large series of novel opioids that mimic the action of this naturally occurring *** of these are based on fentanyl structures that are much more potent,and dangerous,than fentanyl *** publication reviews reports of fatalities attributed to 15 novel opioids with the view to assessing mortality associated with their misuse as well as reviewing published analytical procedures that would be able to detect these and other novel *** drugs include reports of deaths to acetylfentanyl,acrylfentanyl,butr(yl)fentanyl,carfentanil,2-and 4-fluorofentanyls,4-fluorobutyrfentanyl,4-fluoroisobutyrfentanyl,furanylfentanyl,a-and 3-methylfentanyls,4-methoxyfentanyl,ocfentanil,as well as AH-7921,U-47700 and *** of these cases reporting a drug-caused death involved other drugs in addition to the *** obvious minimum fatal concentration was discerned for any of the opioids for which details were provided,however,the more potent members required detection limits well under 1 ng/mL and often even well below 0.1 ng/mL requiring use of the most sensitive mass spectral detection procedures,particularly when screening specimens using a non-targeted *** other novel opioids have been reported in admissions to hospitals include 4-chloroisobutryfentanyl,cyclopentylfentanyl and tetrahydrofuranfentanyl,all of which are likely to have the potential to cause *** is also likely that other analogues will appear with time.

关键词： Forensic science forensic toxicology opioids poisoning illicit drugs novel psychoactive drugs fentanyl derivatives mass spectrometry

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Optical coatings:trends and challenges

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光学精密工程 2005年第4期13卷 389-396页

作者： Norbert Kaiser Torsten Feigl olaf Stenzel Ulrike Schulz Fraunhofer Institut für Angewandte Optik und Feinmechanik Albert-Einstein-Str. 7D-07745 Jena GermanyFraunhofer Institut für Angewandte Optik und Feinmechanik Albert-Einstein-Str. 7D-07745 Jena GermanyFraunhofer Institut für Angewandte Optik und Feinmechanik Albert-Einstein-Str. 7D-07745 Jena GermanyFraunhofer Institut für Angewandte Optik und Feinmechanik Albert-Einstein-Str. 7D-07745 Jena Germany

New applications in optoelectronics, photonics, telecommunication, displays, optical data processing, biomedicine, sensors, energy control, automobile, aerospace, and architecture stimulation are important developments in physics and technology of optical coatings. This paper will focus on the latest advances in the areas of new optical film systems and devices, new optical coating materials and film fabrication techniques, process control and monitoring, and different advanced applications. Particularly, focus is on optical films that combine optical design with microstructural features tailored on the nanometer and micrometer scales. Evaluation of film stability and integrity in harsh industrial environments and their compatibility with organic polymers are important as well.

关键词：光学涂覆技术光电子技术光学仪器光学材料

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