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Search results for: Rare genetic diseases
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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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Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases
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Genistein: a natural isoflavone with a potential for treatment of genetic diseases
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Knowledge and Attitudes of Future Healthcare Professionals Toward Rare Diseases
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Needs assessment study of rare diseases education for nurses and nursing students in Poland
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Medical students' knowledge and opinions about rare diseases: A case study from Poland
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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
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Iranian future healthcare professionals’ knowledge and opinions about rare diseases: cross‑sectional study
PublicationBackground: 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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Iranian future healthcare professionals' knowledge and opinions about rare diseases: cross-sectional study
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The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study
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Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome
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Rapid progressive idiopathic pulmonary arterial hypertension (RCD code: II-1A.1)
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Ultra-rare ultra-care: The unique burden of ultra rare disease caregiving
PublicationBackground: 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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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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Population-based case-control study of alpha 1-antitrypsin and SLC11A1 in Crohn's disease and ulcerative colitis.
PublicationBackground: Crohn’s disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the digestive tract. Genetic factors and an abnormal immune response to infections are suspected to be involved in inflammatory bowel diseases. Methods: In the present study 300 blood samples from CD patients (n 100), UC patients (n 100), and healthy controls (n 100) were taken from a population-based case-control study. PCR assays...
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Assessment of cytotoxic and endocrine potential of selected xenobiotics commonly present in food products
PublicationMore and more increased intensity of anthropopressure processes can be observed, among other things, in the release of great quantities of synthetic substances into the environment, including the Endocrine Disrupting Compounds (EDC). A vast number of chemical substances is considered to belong to the this group, including substances which occur naturally in the environment, such as mycotoxins and phytoestrogens, and substances...
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Toxoplasma gondii Recombinant Antigens in the Serodiagnosis of Toxoplasmosis in Domestic and Farm Animals
PublicationToxoplasmosis is caused by an intracellular protozoan, Toxoplasma gondii, and is a parasitic disease that occurs in all warm-blooded animals, including humans. Toxoplasmosis is one of the most common parasitic diseases of animals and results in reproductive losses. Toxoplasmosis in humans is usually caused by eating raw or undercooked meat or consuming dairy products containing the parasite. Diagnosis of toxoplasmosis is currently...
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Young Shoots of White and Red Headed Cabbages Like Novel Sources of Glucosinolates as Well as Antioxidative Substances
PublicationMost literature data indicate that the diet rich in plant products reduces the risk of developing chronic non-communicable diseases and cancer. Brassica vegetables are almost exclusively synthesizing glucosinolates. Glucosinolates are higher in sprouts than in mature plants, being related to the activity of the specific myrosinase involved in the degradation of glucosinolates during developmental stages. This study compares the...
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Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups
PublicationMastocytosis 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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Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
PublicationA study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically confirmed X-linked Alport Syndrome. A single variant c.1871G>A p.Gly624Asp (G624D) in COL4A5 was predominant and accounted for 39% of Xlinked Alport Syndrome in unrelated Polish families (44 of 113). To evaluate its origins, the genetic variation in a 2.79 Mb segment encompassing...
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Catalytic Mechanism of Non-Target DNA Cleavage in CRISPR-Cas9 Revealed by Ab Initio Molecular Dynamics
PublicationCRISPR-Cas9 is a cutting-edge genome editing technology, which uses the endonuclease Cas9 to introduce mutations at desired sites of the genome. This revolutionary tool is promising to treat a myriad of human genetic diseases. Nevertheless, the molecular basis of DNA cleavage, which is a fundamental step for genome editing, has not been established. Here, quantum–classical molecular dynamics (MD) and free energy methods are used...
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Retained features of embryonic metabolism in the adult MRL mouse
PublicationThe MRL mouse is an inbred laboratory strain that was derived by selective breeding in 1960 from the rapidly growing LG/J (Large) strain. MRL mice grow to nearly twice the size of other commonly used mouse strains, display uncommonly robust healing and regeneration properties, and express later onset autoimmune traits similar to Systemic Lupus Erythematosis. The regeneration trait (heal) in the MRL mouse maps to 14-20 quantitative...
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Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants
PublicationFamilial hypercholesterolemia (FH) is an autosomal-dominant disorder caused mainly by substitutions in the low-density lipoprotein receptor (LDLR) gene, leading to an increased risk of premature cardiovascular diseases. Tremendous advances in sequencing techniques have resulted in the discovery of more than 3000 variants of the LDLR gene, but not all of them are clinically relevant. Therefore, functional studies of selected variants...
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Therapeutic Potential of Carnosine and Its Derivatives in the Treatment of Human Diseases
PublicationDespite significant progress in the pathogenesis, diagnosis, treatment, and prevention of cancer and neurodegenerative diseases, their occurrence and mortality are still high around theworld. The resistance of cancer cells to the drugs remains a significant problem in oncology today,while in the case of neuro-degenerative diseases, therapies reversing the process are still yet to be found. Furthermore, it is important to seek new...
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Metal nanoparticles-assisted early diagnosis of diseases
PublicationEarly diagnosis is essential for the effective illness treatment, but traditional diagnostic approaches inevitably have major downsides. Recent advancements in nanoparticle-based biosensors have created new opportunities for accelerating diagnosis. High surface area, exceptional sensitivity, high specificity, and optical characteristics of metal and metal oxide nanoparticles have made it possible to detect a variety of health conditions...
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Genetic Programming for Workload Balancing in the Comcute Grid System
PublicationA genetic programming paradigm is implemented for reliability optimization in the Comcute grid system design. Chromosomes are generated as the program functions and then genetic operators are applied for finding Pareto-suboptimal task assignment and scheduling. Results are compared with outcomes obtained by an adaptive evolutionary algorithm.
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Enthalpies of formation of rare earth niobates, RE3NbO7
PublicationHigh-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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Thermodynamics of solid phases containing rare earth oxides
PublicationRare 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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Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria
PublicationIntroduction: Clinical management of rare diseases often fails to acknowledge the challenges faced by caregivers.Whilst management of phenylketonuria (PKU) may not be considered as dire as other conditions, most studiesprimarily concentrate on clinical issues, dietary adherence, or the quality of life of the PKU patients, leavingcaregivers in the background. The aim of the study was to evaluate the psychosocial...
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Comparison of reproduction strategies in genetic algorithm approach to graph searching
Publicationgenetic algorithms (ga) are a well-known tool used to obtain approximate solutions to optimization problems. successful application of genetic algorithm in solving given problem is largely dependant on selecting appropriate genetic operators. selection, mutation and crossover techniques play a fundamental role in both time needed to obtain results and their accuracy. in this paper we focus on applying genetic algorithms in calculating...
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New approach to railway noise modeling employing Genetic Algorithms
PublicationMain goal of this paper was to describe an innovative method of noise prediction based on Genetic Algorithms. First part of the paper addresses the problem of growing noise, mainly in the context of a unified method for measuring noise. Further, Genetic Algorithms are described with regards to their fundamental features. Further a description is provided as to how Genetic Algorithms were used in the area of noise modeling. Next...
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Genetic Programming for Interaction Efficient Supporting in Volunteer Computing Systems
PublicationVolunteer computing systems provide a middleware for interaction between project owners and great number volunteers. In this chapter, a genetic programming paradigm has been proposed to a multi-objective scheduler design for efficient using some resources of volunteer computers via the web. In a studied problem, genetic scheduler can optimize both a workload of a bottleneck computer and cost of system. Genetic programming has been...
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RARE-EARTH ELEMENTS DOPING OF BARIUM CERATE AND ZIRCONATE SOLID SOLUTION
PublicationThe 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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Genetic variations as predictors of dispositional and dyadic empathy - a couple study
PublicationBiological drivers of empathy have been explored in an interdisciplinary manner for decades. Research that merges the psychological and genetic perspectives of empathy has recently gained interest, and more complex designs and analyses are needed. Empathy is a multidimensional construct that might be regarded both dispositionally (as a personality trait) and contextually (experienced and/or expressed in a particular relationship/situation)....
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Metals in the environment as risk factors for infectious diseases: gaps and opportunities
PublicationThis chapter aims to provide insights into current knowledge and gaps in our understanding of the influence that trace metals in the environment have on the pathogenesis of infectious diseases. By reducing immune function, trace metal deficiencies may substantially contribute to the global burden of diarhea, pneumonia, and malaria. Improved methods and biomarkers for assessing the risk of trace metals deficiencies and toxicities...
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Genetic predisposition to inflammatory bowel disease
PublicationInflammatory 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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Metabolomics in cardiovascular diseases
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Treatment of Autoinflammatory Diseases
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Vaccinations in rheumatic diseases
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Genetic Positioning of Fire Stations Utilizing Grid-computing Platform
PublicationA chapter presents a model for determining near-optimal locations of fire stations based on topography of a given area and location of forests, rivers, lakes and other elements of the site. The model is based on principals of genetic algorithms and utilizes the power of the grid to distribute and execute in parallel most performance-demanding computations involved in the algorithm.
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Application of genetic algorithms in graph searching problem
PublicationGraph searching is a common approach to solving a problem of capturing a hostile intruder by a group of mobile agents. We assume that this task is performed in environment which we are able to model as a graph G. The question asked is how many agents are needed to capture an arbitrary fast, invisible and smart intruder. This number is called the (edge) search number of G. The strategy which must be performed by agents is called...
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Sample preparation and recent trends in volatolomics for diagnosing gastrointestinal diseases
PublicationThe analysis of the human volatilome can be successfully used for rapid and non-invasive diagnostics of gastrointestinal diseases. However, the introduction of techniques based on detection of volatiles is limited, among other factors, by difficulties which arise during the sampling stage and instrumental analysis. The aim of this article was to review and discuss medical and analytical literature on the analysis of volatiles in...
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A new approach to modeling of selected human respiratory system diseases, directed to computer simulations
PublicationThis paper presents a new versatile approach to model severe human respiratory diseases via computer simulation. The proposed approach enables one to predict the time histories of various diseases via information accessible in medical publications. This knowledge is useful to bioengineers involved in the design and construction of medical devices that are employed for monitoring of respiratory condition. The approach provides the...
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Big Data Paradigm Developed in Volunteer Grid System with Genetic Programming Scheduler
PublicationArtificial intelligence techniques are capable to handle a large amount of information collected over the web. In this paper, big data paradigm has been studied in volunteer and grid system called Comcute that is optimized by a genetic programming scheduler. This scheduler can optimize load balancing and resource cost. Genetic programming optimizer has been applied for finding the Pareto solu-tions. Finally, some results from numerical...
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Estimation of Synchronous Generator and AVR Parameters Based on Gradient and Genetic Methods
PublicationThe author present a method for the estimation of selected synchronous generator model and AVR parameters using a gradient and a genetic algorithm. The paper shows an example of model parameter estimation for a turbogenerator, based on the generator voltage time responses obtained during an active and reactive power rejection test
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An application supporting the educational process of the respiratory system obstructive diseases detection
PublicationThe paper presents a description of functioning of a platform supporting the detection of obstructive diseases in the respiratory system education process. A 16-parameter model of the respiratory system simulated in the MATLAB/Simulink environment was set in the role of the tested patient. It has been linked to the control layer, developed in the LabVIEW environment, using the SIT library (Simulation Interface Toolkit). This layer...
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Plant Diseases, Pathogens and Diagnosis
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Nutritional Support for Liver Diseases
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Voice command recognition using hybrid genetic algorithm
PublicationAbstract: Speech recognition is a process of converting the acoustic signal into a set of words, whereas voice command recognition consists in the correct identification of voice commands, usually single words. Voice command recognition systems are widely used in the military, control systems, electronic devices, such as cellular phones, or by people with disabilities (e.g., for controlling a wheelchair or operating a computer...