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Search results for: rare genetic disease
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Internalized stigma and its correlates among patients with severe mental illness
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Understanding of Dementia in the Polish Language: A Frame Semantic Approach
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Imidazoacridinone-dependent lysosomal photodestruction: a pharmacological Trojan horse approach to eradicate multidrug-resistant cancers
PublicationMultidrug resistance (MDR) remains a primary hindrance to curative cancer therapy. Thus, introduction of novel strategies to overcome MDR is of paramount therapeutic significance. Sequestration of chemotherapeutics in lysosomes is an established mechanism of drug resistance. Here, we show that MDR cells display a marked increase in lysosome number. We further demonstrate that imidazoacridinones (IAs), which are cytotoxic fluorochromes,...
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Rapid progressive idiopathic pulmonary arterial hypertension (RCD code: II-1A.1)
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Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome
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Abdominal epilepsy in patient of schizophrenia - a diagnostic dilemma
PublicationAbdominal epilepsy is a rare and uncomman cause of recurrent abdominal pain. It is commonly occuring in children, but rarely in adolescent and elderly. Paroxysmal episodes of abdominal pain with neurological symptoms like dizziness, lethargy, and abnormal electroencephalogram and remarkable response to anticonvulsant confirms the diagnosis. Here we present a case of schizophrenia, who has repoted with recurrent abdominal pain...
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Absence of superconductivity in fluorine-doped neptunium pnictide NpFeAsO
PublicationX-ray diffraction, specific heat, magnetic susceptibility and inelastic x-ray scattering measurements on the transurarium oxypnictides NpFeAsO and NpFeAsO0.85F0.15 are presented. No superconductivity down to 2 K was observed upon fluorine doping, contrary to the structurally analogous rare-earth pnictides. No modification of the phonon density of states was observed upon doping with fluorine. We discuss our results in light of...
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Divulging the anti-acetylcholinesterase activity of Colletotrichum lentis strain KU1 extract as sustainable AChE active site inhibitors
PublicationAlzheimer’s disease (AD), also called senile dementia is a neurodegenerative disease seen commonly in the elderly and is characterised by the formation of β-amyloid plaques and neurofbrillary tangles (NFT). Though a complete understanding of the disease is lacking, recent studies showed the role of the enzyme acetylcholinesterase (AChE) in pathogenesis. Finding new lead compounds from natural sources has always been a quest for...
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A novel architecture of Web-GIS for mapping and analysis of echinococcosis in Poland
PublicationEchinococcosis is an infectious disease transferred through ingestion of food or water which have been contaminated with eggs of the Echinococcus tapeworm, which are spread by intermediate parasite hosts. Because the latter are primarily territorial, research related to diagnosis and prevention of echinococcosis requires investigation of environmental factors, which can be supported with the use of a Geographical Information System...
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Can popular films instil carcinophobia? Images of cancer in popular Polish cinema
PublicationIntroduction: Although cancer is currently considered a serious socio-medical challenge and health education in Poland has been positioned as a public health priority, the impact of popular culture on people’s ideas about cancer has been neglected. This study therefore aims to analyse the way popular Polish films portray cancer and the experience of cancer.Material and Methods: Seven popular Polish films featuring cancer...
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Glucosinolates from lepidium peruvianum as potential antiamnestic drugs
PublicationLepidium peruvianum (maca) (Brassicaceae) is a naturally occurring plant mainly in the high Andes of Peru. In recent years, it has been intensively researched in terms of its influence on various diseases and towards health improvement. Alzheimer’s disease is an incurable disease that most often affects adults over the age of 60. As since 2003 the US Food and Drug Administration (FDA) did not approve any new drug for Alzheimer’s...
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On a Method of Efficiency Increasing in Kaplan Turbine
PublicationThis paper presents a method of increasing efficiency in Kaplan-type turbine. The method is based on blade profile optimisation together with modelling the interaction between rotor and stator blades. Loss coefficient was chosen as the optimisation criterion, which is related directly to efficiency. Global optimum was found by means of Genetic Algorithms, and Artificial Neural Networks were utilised for approximations to reduce...
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Therapeutic Potential of Multifunctional Derivatives of Cholinesterase Inhibitors
PublicationThe aim of this work is review of tacrine analogues from the last three years, which were not included in the latest review work, donepezil and galantamine hybrids from 2015 and rivastigmine derivatives from 2014. In this account we summarize the efforts toward the development and characterization of non-toxic inhibitors of cholinesterases based on mentioned drugs with various interesting additional properties such as antioxidant,...
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Cross-domain applications of multimodal human-computer interfaces
PublicationDeveloped multimodal interfaces for education applications and for disabled people are presented, including interactive electronic whiteboard based on video image analysis, application for controlling computers with mouth gestures and audio interface for speech stretching for hearing impaired and stuttering people and intelligent pen allowing for diagnosing and ameliorating developmental dyslexia. The eye-gaze tracking system named...
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A Cu/Zn heterometallic complex with solvent-binding cavity, catalytic activity for the oxidation of 1-phenylethanol and unusual magnetic properties
PublicationMononuclear and polymeric complexes of zinc(II) and copper(II) have been synthesized using two isomers of the hemi-salen ligand with a different mutual orientation of donor atoms. The heterometallic Cu/Zn metallocycle features a catalytic niche filled with the molecule of water and molecules of methanol. This unusual compound exhibits both pronounced catalytic activity in the reaction of oxidation of a secondary alcohol to ketone...
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Bulky DNA adducts in human sperm: relationship with fertility, semen quality, smoking, and environmental factors
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Are 8-oxoguanine (8-oxoGua) and 5-hydroxymethyluracil (5-hmUra) oxidatively damaged DNA bases or transcription (epigenetic) marks?
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Metoda diagnostyki cieplno-przepływowej turbin parowych wykorzystująca elementy algorytmów genetycznych
PublicationRozprawa doktorska poświęcona jest opisowi budowania metody diagnostyki cieplno-przepływowej z wykorzystaniem elementów algorytmów genetycznych. Do tworzenia założeń i algorytmów metody posłużono się przykładem funkcjonowania bloku elektrowni kondensacyjnej ze szczególnym uwzględnieniem układu łopatkowego turbiny parowej. Celem pracy jest zbudowanie metody diagnostyki cieplno-przepływowej. Zadaniem metody jest przeprowadzenie procesu...
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Optimisation of turbine shaft heating process under steam turbine run-up conditions
PublicationAn important operational task for thermal turbines during run-up and run-down is to keep the stresses in the structural elements at a right level. This applies not only to their instantaneous values, but also to the impact of them on the engine lifetime. The turbine shaft is a particularly important element. The distribution of stresses depends on geometric characteristics of the shaft and its specific locations. This means a groove manufactured...
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de mininis state aid for entrepreneurs in EU law
Open Research DataThis dataset will provide basic information on the legislation regarding the de minimis state aid under EU law, and some literature explaining the nature and effects of the de minimis state aid for entrepreneurs in some EU Member States in the budgetary period 2014-2020. As this kind of state aid admissible under the GBER, the individual decisions of...
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Luminescence properties of TeOx-Dy gels
Open Research DataThe DataSet contains the emission and excitation spectra of TeOx-Dy gel. 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 dysprosium ions were added, the nitrates were used as a source of rare-earth ions. The sol...
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Luminescence properties of TeOx-Tb gels
Open Research DataThe DataSet contains the emission and excitation spectra of TeOx-Tb gel. 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 terbium ions were added, the nitrates were used as a source of rare-earth ions. The sol was...
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Luminescence properties of TeOx-Eu gels
Open Research DataThe DataSet contains the emission and excitation spectra of TeOx-Eu gels. 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 europium ions were added, the nitrates were used as a source of rare-earth ions. The sol...
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Is it all about networking? Building a sustainable value of a small enterprise in Polish context
PublicationIn this paper we aim to propose and outline key ingredients to a small enterprise success, emerging from the social capital of small business owner-managers and their business networks. We employ resource based view of an organization as well as an embeddedness perspective along with new approach transaction costs to outline the pillars of an advantage of a small business entity. The analysis of survey data leads us to conclusion,...
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Social networks as a context for small business? A new look at an enterprise in the context of a smallness and newness liability syndrome
PublicationIn this paper we aim to propose and outline key ingredients to a small enterprise success, emerging from the social capital of small business owner-managers and their business networks. We employ resource based view of an organization as well as an embeddedness perspective along with new approach transaction costs to outline the pillars of an advantage of a small business entity. The analysis of survey data leads us to conclusion,...
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Molecular Imaging and Nanotechnology—Emerging Tools in Diagnostics and Therapy
PublicationPersonalized medicine is emerging as a new goal in the diagnosis and treatment of diseases. This approach aims to establish differences between patients suffering from the same disease, which allows to choose the most effective treatment. Molecular imaging (MI) enables advanced insight into molecule interactions and disease pathology, improving the process of diagnosis and therapy and, for that reason, plays a crucial role in personalized...
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In silico epitope prediction of Borrelia burgdorferi sensu lato antigens for the detection of specific antibodies
PublicationDespite many years of research, serodiagnosis of Lyme disease still faces many obstacles. Difficulties arise mainly due to the low degree of amino acid sequence conservation of the most immunogenic antigens among B. burgdorferi s.l. genospecies, as well as differences in protein production depending on the environment in which the spirochete is located. Mapping B-cell epitopes located on antigens allows for a better understanding...
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National vital statistics reports : from the Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics System
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Gender approach to multi-objective optimization of detection systems by pre-selection of criteria
PublicationA novel idea of performing evolutionary computations for solving highly-dimensional multi-objective optimization (MOO) problems is proposed. The information about individual genders is applied. This information is drawn out of the fitness of individuals and applied during the parental crossover in the evolutionary multi-objective optimization (EMO) processes. The paper introduces the principles of the genetic-gender approach (GGA)...
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Gender approach to multi-objective optimization of detection systems by pre-selection of criteria
PublicationA novel idea of performing evolutionary computations for solving highly-dimensional multi-objective optimization (MOO) problems is proposed. The information about individual genders is applied. This information is drawn out of the fitness of individuals and applied during the parental crossover in the evolutionary multi-objective optimization (EMO) processes. The paper introduces the principles of the genetic-gender approach (GGA)...
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Gender approach to multi-objective optimization of detection systems by pre-selection of criteria
PublicationA novel idea of performing evolutionary computations for solving highly-dimensional multi-objective optimization (MOO) problems is proposed. The information about individual genders is applied. This information is drawn out of the fitness of individuals and applied during the parental crossover in the evolutionary multi-objective optimization (EMO) processes. The paper introduces the principles of the genetic-gender approach (GGA)...
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Future of medicine: personalized oncology
PublicationUnderstanding genetic and epigenetic mechanisms of tumorigenesis allows identifying many vital mutations affected the formation of various malignancies. This led to the discovery of a new therapeutic approach, based on molecular mechanisms in the world of medicine, which is called personalized medicine (PM). This review aims to outline the state of the art of the personalized medicine in treatment, taking into account anti-cancer...
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Cyanobacterial and Algal Strains in the Culture Collection of Baltic Algae (CCBA)
PublicationThe dataset titled Microalgal strains from “Culture Collection of Baltic Algae (CCBA)” is a representation of cyanobacterial and microalgal cultures isolated from the Baltic Sea. It is a unique catalogue of strains of the dominant and rare species found in the Baltic phytoplankton and microphytobenthos assemblages. The main purpose of the collection is to extend the knowledge on the Baltic microbial communities by providing...
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Machine Learning and Electronic Noses for Medical Diagnostics
PublicationThe need for noninvasive, easy-to-use, and inexpensive methods for point-of-care diagnostics of a variety of ailments motivates researchers to develop methods for analyzing complex biological samples, in particular human breath, that could aid in screening and early diagnosis. There are hopes that electronic noses, that is, devices based on arrays of semiselective or nonselective chemical sensors, can fill this niche. Electronic...
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Preparation, characterization and anti-colitis activity of curcumin-asafoetida complex encapsulated in turmeric nanofiber
PublicationUlcerative colitis (UC) is a main form of inflammatory bowel disease (IBD). Asafoetida (ASF) and turmeric have traditionally been used for the treatment of various inflammatory diseases, including UC, because ASF is rich in sulfur compounds and turmeric contains curcumin (CUR). Turmeric nanofiber (TNF), the modified cell wall component of turmeric is considered to play important role in the human diet, health and can be used as...
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Bioterrorism — characteristics and possibilities of prevention
PublicationIn the paper bioterrorist threats have been presented. Historical background and possible methods of attacks have been described. The most dangerous pathogens and disease entities have been classified. Selected methods of detection and identification of biological weapon have been presented. The wireless system for threats monitoring — developed at Gdansk University of Technology — has been described.
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T-cell lymphoma, NOS - Unknown, 74 - Tissue image [3290730016637311]
Open Research DataThis is the histopathological image of LYMPH NODES tissue sample obtained in Medical University Gdańsk and deposited in ZMDL-GUMED. The sample image was taken using: Pannoramic 250 3DHistech slide scanner (20x magnification) and saved to DICOM format.
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T-cell lymphoma, NOS - Unknown, 74 - Tissue image [3290730016632401]
Open Research DataThis is the histopathological image of LYMPH NODES tissue sample obtained in Medical University Gdańsk and deposited in ZMDL-GUMED. The sample image was taken using: Pannoramic 250 3DHistech slide scanner (20x magnification) and saved to DICOM format.
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T-cell lymphoma, NOS - Unknown, 74 - Tissue image [3290730016633901]
Open Research DataThis is the histopathological image of LYMPH NODES tissue sample obtained in Medical University Gdańsk and deposited in ZMDL-GUMED. The sample image was taken using: Pannoramic 250 3DHistech slide scanner (20x magnification) and saved to DICOM format.
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T-cell lymphoma, NOS - Unknown, 74 - Tissue image [3290730016639861]
Open Research DataThis is the histopathological image of LYMPH NODES tissue sample obtained in Medical University Gdańsk and deposited in ZMDL-GUMED. The sample image was taken using: Pannoramic 250 3DHistech slide scanner (20x magnification) and saved to DICOM format.
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T-cell lymphoma, NOS - Unknown, 74 - Tissue image [3290730016639661]
Open Research DataThis is the histopathological image of LYMPH NODES tissue sample obtained in Medical University Gdańsk and deposited in ZMDL-GUMED. The sample image was taken using: Pannoramic 250 3DHistech slide scanner (20x magnification) and saved to DICOM format.
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Light microscopy observation of emergent macrophytes in floating treatment wetlands combined with microbial fuel cells (FTW-MFC): heavy metals loaded treatments
Open Research DataThis dataset presents the light microscope images of emergent plants (Phragmites australis and Iris pseudacorus) used in floating treatment wetlands combined with microbial fuel cells (FTW-MFC) systems for wastewater treatment and bioenergy generation.
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A Method for Optimising the Blade Profile in Kaplan Turbine
PublicationThis paper introduces a method of blade profile optimisation for Kaplan-type turbines, based on modelling the interaction between rotor and stator blades. Rotor and stator blade geometry is described mathematically by means of a midline curve and thickness distribution. Genetic algorithms are then used to find a global optimum that minimises the loss coefficient. This allows for variety of possible blade shapes and configurations....
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OrphaGPT: An Adapted Large Language Model for Orphan Diseases Classification
PublicationOrphan diseases (OD) represent a category of rare conditions that affect only a relatively small number of individuals. These conditions are often neglected in research due to the challenges posed by their scarcity, making medical advancements difficult. Then, the ever-evolving medical research and diagnosis landscape calls for more attention and innovative approaches to address the complex challenges of rare diseases and OD. Pre-trained...
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Automatic Breath Analysis System Using Convolutional Neural Networks
PublicationDiseases related to the human respiratory system have always been a burden for the entire society. The situation has become particularly difficult now after the outbreak of the COVID-19 pandemic. Even now, however, it is not uncommon for people to consult their doctor too late, after the disease has developed. To protect patients from severe disease, it is recommended that any symptoms disturbing the respiratory system be detected...
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Automatic Breath Analysis System Using Convolutional Neural Networks
PublicationDiseases related to the human respiratory system have always been a burden for the entire society. The situation has become particularly difficult now after the outbreak of the COVID-19 pandemic. Even now, however, it is common for people to consult their doctor too late, after the disease has developed. To protect patients from severe disease, it is recommended that any symptoms disturbing the respiratory system be detected as...
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Pathogenesis of psoriasis in the “omic” era. Part III. Metabolic disorders, metabolomics, nutrigenomics in psoriasis
PublicationPsoriasis is a systemic disease that is strictly connected with metabolic disorders (insulin resistance, atherogenic dyslipidemia, arterial hypertension, and cardiovascular diseases). It occurs more often in patients with a more severe course of the disease. Obesity is specially an independent risk factor and it is associated with a worse treatment outcome because of the high inflammatory activity of visceral fatty tissue and...
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Epitope Mapping of BmpA and BBK32 Borrelia burgdorferi Sensu Stricto Antigens for the Design of Chimeric Proteins with Potential Diagnostic Value
PublicationLyme disease is a tick-borne zoonosis caused by Gramnegative bacteria belonging to the Borrelia burgdorferi sensu lato (s.l.) group. In this study, IgM- and IgG-specific linear epitopes of two B. burgdorferi sensu stricto (s.s.) antigens BmpA and BBK32 were mapped using a polypeptide array. Subsequently, two chimeric proteins BmpABBK32-M and BmpA-BBK32-G were designed to validate the construction of chimeras using the identified...
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Synthesis and Cholinesterase Inhibitory Activity of N-Phosphorylated /N-Tiophosphorylated Tacrine
PublicationNovel phosphorus and thiophosphorus tacrine derivatives were designed, synthesized and their biological activity and molecular modeling was investigated as a new potential anti-Alzheimer's disease (AD) agents. All new synthesized compound exhibited lower toxicity against neuroblastoma cell line (SH-SY5Y) in comparison with tacrine. Two analogues in the series, 7 and 9, demonstrated lack of cytotoxicity against hepatocellular cells...
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Instalacja oświetleniowa w zbiorniku wody "Stary Sobieski" - rozważania o spektakularnym zabytku techniki
PublicationArtykuł przedstawia efekty badań autora nad niezwykle okazałą, ponad stuletnią instalacją elektryczną, która zachowała się w zabytkowym obiekcie infrastruktury wodociągowej w niemal 100% oryginalnej formie (nie licząc częściowej dewastacji). Jest to rzadki przykład tego rodzaju zabytku, ponieważ obiekty tego typu i w tym wieku zwykle podlegały modernizacji na przestrzeni lat albo, po wyłączeniu z eksploatacji zostały całkowicie...