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Bakgrund Fatigue, eller kronisk trötthet, är ett vanligt förekommande fenomen bland cancersjuka, och såväl prevalensen som svårighetsgraden av fenomenet tenderar att tillta i samband med cytostatikabehandling. Fatigue har beskrivits i litteraturen som en av de allvarligaste biverkningarna av cancersjukdomar och dess behandlingsmetoder, i den mening att fatigue orsakar svårt lidande och kraftigt reducerar livskvaliteten. Fatigue är också ett svårbehandlat fenomen med en komplex bakgrundsbild, och det saknas god evidens för farmakologiska behandlingsmetoder. Syfte Syftet var att beskriva cancerpatienters erfarenheter av hälsofrämjande interventioner som syftade till att lindra fatigue-relaterat lidande under och efter cytostatikabehandling. Metod Detta var en icke-systematisk litteraturöversikt som totalt granskade 15 vetenskapliga publikationer inom området. Publikationerna hämtades in från databaserna PubMed och CINAHL, efter noggrant planerade sökningar. De sökträffar som erhölls genomgick en relevans- och kvalitetsbedömning, varpå de 15 artiklarna som slutligen inkluderades i resultatet genomgick en integrerad dataanalys. Datan samlades in från cytostatikabehandlade cancerpatienter och all data gällande fatigue var självskattad och utgick på så sätt från patientperspektivet. Resultat Denna litteraturöversikt sammanställde evidens om de hälsofrämjande effekterna av ett antal olika interventioner för att lindra fatigue. Interventionerna kategoriserades in i två huvudkategorier och fyra underkategorier, och de påvisade effekterna för varje typ av intervention diskuterades och sammanställdes i samband med dataanalysen. Exempel på typer av interventioner som togs upp i denna litteraturöversikt är instruerande interventioner och bevakade interventioner. Slutsats Fysisk aktivitet i kombination med avslappningstekniker visade sig ha störst effekt mot cancerrelaterad fatigue. En patientutbildande intervention påvisade en icke-signifikant förbättring av fatigue, medan reste, Background Chronic fatigue is a commonly occurring phenomena among cancer patients, and cancer-related fatigue has a tendency to increase in both prevalence and severity during chemotherapy. Fatigue has been described in the scientific literature as one of the most serious side effect occurring as a result of cancer or the treatment of cancer, in the sense that it is a source of great suffering and a gravely reduced quality of life. In addition, fatigue is a poorly understood phenomena and is considered difficult to treat. There exists no good evidence for effective pharmacological treatment options. Aim The aim of this study was to describe cancer patients’ experiences of different health-promoting interventions during chemotherapy, which were intended to reduce fatigue-related suffering in both the short-term as well as the long-term. Method This was a non-systematic literature review which analyzed 15 different scientific articles in order to achieve the stated aim. The articles were retrieved after entering meticulously planned search terms into the CINAHL and PubMed databases. The search results that were found went through an assessment of relevance and quality, and 15 of the search results were included for analysis. The data in these studies were collected from patients undergoing chemotherapy for a diagnosis of cancer, and all data pertaining to fatigue was self-evaluated and was thusly based entirely on the perspective and experiences of the patients. Results This literature review compiled evidence about the health-promoting effects of a variety of different interventions in regard to the treatment of fatigue. The interventions were categorized into two main categories and four subcategories, and the evidence for every type of intervention were discussed and summarized in conjunction with the data analysis. For example, this literature review distinguished between informative and supervised interventions and discussed the evidence for those types of inter

Purpose: Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability (ID). In this study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations. Methods: Through an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3, and we reviewed previously published cases. All missense variants were mapped onto the 3-dimensional structure of the GABRB3 subunit, and clinical phenotypes associated with the different key structural domains were investigated. Results: We characterized 71 individuals with GABRB3 variants, including 22 novel subjects, expressing a wide spectrum of phenotypes. Interestingly, phenotypes correlated with structural locations of the variants. Generalized epilepsy, with a median age at onset of 12 months, and mild-to-moderate ID were associated with variants in the extracellular domain. Focal epilepsy with earlier onset (median: age 4 months) and severe ID were associated with variants in both the pore-lining helical transmembrane domain and the extracellular domain. Conclusion: These genotype-phenotype correlations will aid the genetic counseling and treatment of individuals affected by GABRB3-related disorders. Future studies may reveal whether functional differences underlie the phenotypic differences. (C) 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modeling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 variants lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development, early onset seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism. The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the previous cohorts, which underlines the importance of larger cohorts for the phenotype descriptions of rare genetic disorders.

The teaching and learning methods applied to the in-person classroom are not entirely capable of addressing the requirements for an online laboratory environment. The aim of the study is to create the pedagogies for remote laboratories. Therefore, a test environment was developed and user observations were captured over four years. This research proposed an educational framework for online science and engineering laboratory and summarized the most significant aspects to be included in the laboratory design.

The broad application of next-generation sequencing in genetic diagnostics opens up vast possibilities for personalized treatment of patients with genetic disorders including monogenic epilepsies. To translate genetic findings into personalized medicine, mechanistic studies of the individual pathogenic variants and drug screening in patient-specificin vitro models are very crucial. Recently, human induced pluripotent stem cell (hiPSC) technologies have made it possible to generate patient-specific pluripotent cells, which can be directed to differentiate into any given cell type. These hiPSCs are ideal for generating neurons to investigate specific neurological/ neurodevelopmental disorders. While two-dimensional single-cell models of hiPSC-derived neurons provide reliable investigation of synaptic transmission and plasticity, cerebral organoids are superior in regard to functional characterization and the study of cell-cell interactions in three-dimensional structures. In this review, we focus on monogenic epilepsies and discuss the application of hiPSC models in personalized drug treatment based on the patient’s specific genetic variants.

Communications engineering education has traditionally been confined to focus on theory. While it is essential that students learn the theory of communications, this alone is not enough to prepare them for their careers in telecommunications industry. This is due to the fact that there are several practical challenges in designing and implementing communication systems that are overlooked when focusing only on theory

The objective of the present study is considering the relationship between EQ & constructive and non-constructive problem solving styles among students. The applied methodology is cross-correlation method. The statistical population in this study is all the educational sciences' students of Payame Noor university of Abadan in the year 2014 and the sampling is taken totally randomly and voluntary. Two surveys of EQ which proposed by Siryashring (1988) have used in this study that contain 33 questions. This study will measure 5 components of emotional intelligence: Self-awareness, self-control, self-motivation, social awareness and social skills. In addition the problem solving styles' survey that proposed by Velang (1996) has been applied that has made in two stages and has 24 questions, 12 items measure the problem-oriented style and rest of them measure the excitement-orientation. According to Cronbach's alpha the reliability coefficient of EQ is reported about 0.84. The validity of 0.63 is confirmed in Shirng's test of EQ. reliability coefficient of solving problem style is reported about 87%.Either reliability coefficient or factor content are confirmed by the faculty. Data analysis is done in two level of descriptive statistical (frequencies, percentages mean) and inferential statistics (Pearson correlation, chi-square test). The obtained results of assumptions show that there is no significant relationship between EQ and constructive problem solving; also there is no significant relationship between EQ and non-constructive problem solving. Moreover there is significant relationship between EQ in creative styles, avoidance and style tendencies. Nevertheless there is no relationship between EQ and distress styles. And the confidence style shows an inverse relationship. Keywords: EQ, Constructive problem solving styles, non- constructive problem solving styles