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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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Rare Diseases
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Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases
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Orphanet Journal of 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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Translational Science of Rare Diseases
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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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Journal of Rare Cardiovascular Diseases
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Intractable & Rare Diseases Research
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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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Jan Domaradzki dr hab.
PeopleDr Jan Domaradzki is an assistant professor of sociology and Head of the Laboratory of Health Sociology and Social Pathology at the Department of Social Sciences and Humanities, Poznan University of Medical Sciences, Poznań, Poland. He is a sociologist with an interest in medical sociology; sociology of genetics; social implications of a new genetics, medicalization and geneticization, social representations of biotechnology, social...
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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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Microalgal strains from the Culture Collection of Baltic Algae (CCBA)
Open Research DataThe dataset contains information on the cyanobacterial and microalgal strains maintained at the Culture Collection of Baltic Algae (CCBA) at the Institute of Oceanography UG. The collection maintains cyanobacterial and algal strains isolated from the Baltic Sea and additionally several strains collected from a wide range of habitats. The culture collection...
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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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Genetic and Proteomic data
Open Research DataGenetic and Proteomic data (shotgun proteomics) for Uroseptic and UTI E. coli strains.
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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 Tumors
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RARE METALS
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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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Optical properties TeOx gels doped with the rare-earth ions
Open Research DataThe 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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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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Optical properties of TeOx gels doped with a mix of rare-earth ions
Open Research DataThe 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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Metabolomics in cardiovascular diseases
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