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Wyniki wyszukiwania dla: Ultra rare disease
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Ultra-rare ultra-care: The unique burden of ultra rare disease caregiving
PublikacjaBackground: We sought to assesses the impact of caring for children with ultra rare diseases (URDs) on familycarers and to analyse the way these experiences differ among the caregivers of children diagnosed throughprenatal or newborn screening, and those with symptom-based diagnosis.Methods: A total of 200 caregivers of 219 URDs children completed an on-line survey regarding the challengesand experiences...
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Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases
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Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer’s Disease Case
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Jan Domaradzki dr hab.
Osobysocjolog, adiunkt w Katedrze Nauk Społecznych Uniwersytetu Medycznego im. Karola Marcinkowskiego w Poznaniu, kierownik Pracowni Socjologii Zdrowia i Patologii Społecznych. Habilitację otrzymałem w roku 2019 w Instytucie Socjologii UAM na podstawie rozprawy: Społeczne konstruowanie genetyki. Reprezentacje biotechnologii w polskim czasopiśmiennictwie opiniotwórczym. Doktorat obroniłem w roku 2008 w Instytucie Socjologii, UKSW na...
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Iranian future healthcare professionals’ knowledge and opinions about rare diseases: cross‑sectional study
PublikacjaBackground: Rare diseases are a new global health priority, requiring evidence-based estimates of the global prevalenceof diseases to inform public policymakers and provide a serious challenge to the healthcare system that must not be ignored. The purpose of this study is to investigate Iranian future healthcare professionals’ knowledge and opinions about rare diseases.Results: A total of 6838 students responded...
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Three-dimensional printed trachea helps to design tailored treatment for tracheobronchomalacia
PublikacjaTracheobronchomalacia is a rare respiratory disease that is manifesting by impaired ventilation with expiratory collapse of the tracheal wall due to softening of the supporting cartilage and hypotonia of myoelastic elements [1]. Surgery is the mainstay of treatment. We report the case of 39 -year old man with exacerbation of chronic respiratory distress. The membranous wall of the trachea and the large bronchi was stretched to...
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Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups
PublikacjaMastocytosis is rare disease in which genetic predisposition is not fully understood. The aim of this study was to analyze associations between mastocytosis and single nucleotide polymorphisms (SNPs) by a genome-wide association study (GWAS) approach. A total of 234 patients were enrolled in our study, including 141 with cutaneous mastocytosis (CM; 78 children and 63 adults) and 93 with systemic mastocytosis (SM, all adults)....
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The influence of small intestinal mucus structure on particle transport ex vivo
PublikacjaMucus provides a barrier to bacteria and toxins while allowing nutrient absorption and waste transport. Unlike colonic mucus, small intestinal mucus structure is poorly understood. This study aimed to provide evidence for a continuous, structured mucus layer and assess the diffusion of different sized particles through it. Mucus structure was assessed by histology and immunohistochemistry. Ultra-structure was assessed by scanning...
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Lokalizacja osób w środowisku promu pasażerskiego z wykorzystaniem ultra szerokopasmowego interfejsu radiowego
PublikacjaW niniejszym artykule przedstawiono badania efektywności lokalizowania poruszających się osób w środowisku promu pasażerskiego stosując pomiar czasu propagacji ultraszerokopasmowego sygnału radiowego UWB (Ultra-Wide Band) pomiędzy węzłami odniesienia i terminalem ruchomym. Opisano zbudowane stanowisko badawcze oraz uzyskane wyniki pomiarów przeprowadzonych w warunkach rzeczywistych.
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Treating rare diseases with the cinema: Can popular movies enhance public understanding of rare diseases?
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Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study
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Enthalpies of formation of rare earth niobates, RE3NbO7
PublikacjaHigh-temperature oxide melt solution calorimetry was used to investigate energetics of a series of rare earth niobates RE3NbO7. All of investigated compounds were found to be stable in enthalpy in respect to their oxides. The enthalpy of formation from oxides becomes more exothermic as the size of the RE cation increases, a trend seen previously in other RE compounds including pyrochlores, perovskites, and phosphates. For smaller...
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Genetic predisposition to inflammatory bowel disease
PublikacjaInflammatory bowel disease (IBD) is a chronic, incurable inflammatory disease of the digestive system. The two main disease entities included in the IBD are ulcerative colitis and Crohn's disease. According to epidemiological studies there are more and more new cases every year. In especially among the youngest patients with symptoms of malnutrition and growth inhibition to land up in hospitalwith cancer suspected. The purpose...
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Thermodynamics of solid phases containing rare earth oxides
PublikacjaRare earth elements (RE) are incorporated into a large variety of complex oxide phases to provide tailored mechanical, electrical, optical, and magnetic properties. Thermodynamics control phase stability, materials compatibility in use, corrosion, and transformation. This review presents, in one compilation, the thermodynamic properties of a large number of such materials and discusses systematic trends in energetics and the factors...
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Rare Diseases
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Rare Tumors
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RARE METALS
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RARE-EARTH ELEMENTS DOPING OF BARIUM CERATE AND ZIRCONATE SOLID SOLUTION
PublikacjaThe properties of doped barium cerate barium zirconate solid solution are presented in presented work. It was found that doping of solid solution of barium cerate and zirconate by rare-earth elements have an influence on microstructure and electrical properties of the samples.
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Optical properties TeOx gels doped with the rare-earth ions
Dane BadawczeThe DataSet contains the UV-Vis spectra of TeOx gels doped with the rare-earth ions. The material was obtained by the sol-gel method. The starting solution was prepared by mixing telluric acid (precursor) with thetraetylene glycol, water, and ethanol. Next, the 5% mol of the rare-earth ions were added, the nitrates were used as a source of rare-earth...
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Person Tracking in a Ferry Environment Using Ultra-Wide Band Radio Interface
PublikacjaThis article presents research and analysis of effectiveness of tracking moving people in an environment of passenger ferry, using measurements of propagation time of ultra-wide band radio signal (UWB - Ultra-Wide Band). Constructed measurement stand and results of measurements carried out in a real propagation conditions were shortly discussed.
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Antibody Cross-Reactivity in Serodiagnosis of Lyme Disease
PublikacjaLyme disease is a tick-borne disease caused by spirochetes belonging to the Borrelia burgdorferi sensu lato complex. The disease is characterized by a varied course; therefore, the basis for diagnosis is laboratory methods. Currently, a two-tiered serological test is recommended, using an ELISA as a screening test and a Western blot as a confirmatory test. This approach was introduced due to the relatively high number of false-positive...
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Optical properties of TeOx gels doped with a mix of rare-earth ions
Dane BadawczeThe DataSet contains the UV-Vis spectra of the TeOx gels doped with a mix of rare-earth ions. The material was obtained by the sol-gel method. The starting solution was prepared by mixing telluric acid (precursor) with thetraetylene glycol, water, and ethanol. Next, the different molar concentration of rare-earth ions was added, nitrates were used...
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Dedicated power supply subsystem for ultra-low noise preamplifiers
PublikacjaIn field of electronics there is need for low-noise amplifiers. Noise have the most important influence on analog circuits. Therefore exist necessity to develop new ultra-low noise power supplies, which can cooperate with specified amplifiers and preamplifiers. It is very common that professional power supplies are very expensive and still have disadvantages. This paper proposes simple and inexpensive solution, which fulfill specific...
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Size reduction of ultra-wideband antennas with efficiency and matching constraints
PublikacjaAntenna design is a multifaceted task that involves handling of various performance figures concerning both electrical performance of the structure as well as its geometry. Simultaneous control of several objectives through rigorous optimization is very challenging and virtually impossible through conventional approaches such as parameter sweeping. In this work, we investigate size reduction of ultra‐wideband antenna structures...
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Detection of apple in orange juice using ultra-fast gas chromatography
PublikacjaThe determination of authenticity is an increasingly important issue for food quality and safety. The use of an electronic nose based on ultra-fast gas chromatography technique ensures rapid analysis of the volatile compounds from food products. Due to the fact that this technique enables chemical profiling of agricultural products, it can be an effective tool for authentication when combined with chemometrics. In this article...
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Integrated controller for ultra high frequency technique laboratory
PublikacjaDepartment of Microwave and Antenna Engineering decided to modernize the laboratory of Ultra High Frequency Techniques. The main change was to replace measurement of the field distribution inside rectangular waveguides by analysing the fields around striplines. This involved the need to overcome several technical and conceptual problems. Precise positioning of the probe and reading the field distribution near the stripline is important...
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Meat freshness classification using ultra-fast gas chromatography
PublikacjaMeat constitutes an important component of human diet. In order to ensure that it is safe to consume, it is important to be able to determine whether a particular sample is fresh. To this end, an analysis of the headspace of pork, beef, and poultrywas performed over a period of seven days using ultra-fast gas chromatography. Compounds that may possibly be used as indicators of spoilage were identified. Based on the obtained results...
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Energy quality improvement by ultra rapid L. V. fault current limiting andinterrupting.
PublikacjaPrzedstawiono możliwość ograniczania rozprzestrzeniania się zapadów napięcia w sieciach elektroenergetycznych przy zwarciach przez zastosowanie łączników hybrydowych do ultra szybkiego ograniczania i wyłączania prądów zwarciowych. Referat ma na celu przedstawienie dotychczasowych osiągnięć prac badawczych w dziedzinie łączników ultra szybkich, a także poznanie opinii elektroenergetyki i odbiorców na temat celowości wprowadzenia...
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Classification of Polish wines by application of ultra-fast gas chromatography
PublikacjaThe potential of ultra-fast gas chromatography (GC) combined with chemometric analysis for classification of wine originating from Poland according to the variety of grape used for production was investigated. A total of 44 Polish wine samples differing in the type of grape (and grape growth region) used for the production as well as parameters of the fermentation process, alcohol content, sweetness, and others which characterize...
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UPDRS tests for diagnosis of Parkinson's disease employing virtual-touchpad
PublikacjaThis paper presents a new approach to diagnosing Parkinson's disease. The progression of the disease can be measured by the UPDRS (Unified Parkinson Disease Rating Scale) scale which is used to evaluate motor and behavioral symptoms of Parkinson's disease. Hitherto the evaluation of the advancement of the disease in the UPDRS scale was made by a specialist through medical observation. The authors suggest a partial automation of...
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Needs assessment study of rare diseases education for nurses and nursing students in Poland
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Ultra-Compact SIRC-Based Self-Triplexing Antenna with High Isolation
PublikacjaAn ultra-compact self-triplexing antenna realized on a substrate-integrated rectangular cavity (SIRC) is discussed in this study. The proposed structure employs two L-shaped slots and an in-verted U-shaped slot to radiate at three independent operating frequency bands. Three 50-ohm microstrip feed lines are used to excite the radiation in these slots. The operating frequency is individually tuned using the slot size. The slot placement...
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Underwater wet welding of S1300 ultra-high strength steel
PublikacjaMarine Structures Volume 81, January 2022, 103120 Underwater wet welding of S1300 ultra-high strength steel Author links open overlay panelJacekTomkówGrzegorzRogalski https://doi.org/10.1016/j.marstruc.2021.103120 Get rights and content Under a Creative Commons licenseopen access Highlights • Technological method of S1300 steel underwater weldability improving was proposed. • Number of cracks and hardness of welded joints was...
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Orphanet Journal of Rare Diseases
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Medical students' knowledge and opinions about rare diseases: A case study from Poland
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Design of a Patch Power Divider with Simple Structure and Ultra-Broadband Harmonics Suppression
PublikacjaThis paper introduces a simple H-shaped patch Wilkinson power divider (WPD), which provides ultra wide harmonics suppression band. The presented WPD designed at 1.8 GHz, and exhibits good performance at the operating bandwidth. In the proposed divider structure, two simple patch low-pass filters (LPFs) are employed at each branch, and three open ended stubs are added at each port. The proposed divider, implemented using the aforementioned...
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Chinese Rare Earths
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JOURNAL OF RARE EARTHS
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Ultra-broadband photonic internet
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Advanced ultra super critical power plants: role of buttering layer
PublikacjaDissimilar metal welded (DMW) joint plays a crucial role in constructing and maintaining ultra-supercritical (USC) nuclear power plants while presenting noteworthy environmental implications. This research examines different welding techniques utilized in DMWJ, specifically emphasizing materials such as P91. The study investigates the mechanical properties of these materials, the impact of alloying elements, the notable difficulties...
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Iranian future healthcare professionals' knowledge and opinions about rare diseases: cross-sectional study
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Simulation-driven design of compact ultra-wideband antenna structures
PublikacjaPurpose–The purpose of this paper is to investigate strategies and algorithms for expedited designoptimization and explicit size reduction of compact ultra-wideband (UWB) antennas.Design/methodology/approach–Formulation of the compact antenna design problem aiming atexplicit size reduction while maintaining acceptable electrical performance is presented. Algorithmicframeworks are described suitable for handling various design situations...
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Ultra-thin film of aluminum oxide influence on the plasmon resonance in gold nanostructures
Dane BadawczeUltra-thin film of aluminum oxide influence on the plasmon resonance in gold nanostructures was measured by UV-VIS spectroscopy. Ultra thin film of Al2O3 was deposited on a gold nanostructures. Thickness of film was 2nm - 8nm. Shift of plasmon resonance was observed, as a result of various dielectric constant of layer.
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Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts
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Knowledge representation of motor activity of patients with Parkinson’s disease
PublikacjaAn approach to the knowledge representation extraction from biomedical signals analysis concerning motor activity of Parkinson disease patients is proposed in this paper. This is done utilizing accelerometers attached to their body as well as exploiting video image of their hand movements. Experiments are carried out employing artificial neural networks and support vector machine to the recognition of characteristic motor activity...
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Coplanar Waveguide Fed Ultra-Wideband Antenna Over the Planar and Cylindrical Surfaces
PublikacjaThe investigation of coplanar waveguide fed ultra-wideband antenna and the influence of the proximity of different materials on the reflection coefficients and radiation character-istics is presented. The antenna is composed of two circular coplanar strips which enclose slot aperture of similar shape and is designed on a thin and flexible substrate. From the modeling and experimental tests the antenna shows good performance in...
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Structural investigations of the Al2O3 ultra thin films
Dane BadawczeUltra-thin layers of Al2O3 were deposited by atomic layer deposition (ALD) (Beneq TFS 200 ALD system). This method provides precise thickness control down to a single atomic layer. The precursors used were trimethylaluminum (Sigma-Aldrich) and purified water. The deposition of the atomic layer was carried out at 200 °C. Samples with a thickness of 2...
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Gastroesophageal Reflux Disease in Children with Interstitial Lung Disease
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Novel analytical method for detection of orange juice adulteration based on ultra-fast gas chromatography
PublikacjaThe food authenticity assessment is an increasingly important issue in food quality and safety. The application of an electronic nose based on ultra-fast gas chromatography technique enables rapid analysis of the volatile compounds from food samples. Due to the fact that this technique provides chemical profiling of natural products, it can be a powerful tool for authentication in combination with chemometrics. In this article,...
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Automatic assessment of the motor state of the Parkinson's disease patient --a case study
PublikacjaThis paper presents a novel methodology in which the Unified Parkinson's Disease Rating Scale (UPDRS) data processed with a rule-based decision algorithm is used to predict the state of the Parkinson's Disease patients. The research was carried out to investigate whether the advancement of the Parkinson's Disease can be automatically assessed. For this purpose, past and current UPDRS data from 47 subjects were examined. The results...