Utformning av träningsbroschyr för patienter med digitalnervskador

Bakgrund: Digitalnervskada är en vanlig diagnos inom handkirurgisk rehabilitering, och för kunna att återgå till vardagliga aktiviteter är det viktigt att träna känseln för förbättrad funktion. Träningen kan underlättas med hjälp av skriftlig information. Syftet med studien var att utforma en broschyr om känselträning vid digitalnervskada på uppdrag av Handkirurgiska klinikens rehabiliteringsavdelning samt undersöka förståelsen av dess innehåll. Metod: Innan prototypen av broschyren utformades, inhämtades information om digitalnervskada, känselträning, metodik för att ge information och författarna granskade andra broschyrers utformning. Prototypen granskades av en expertgrupp som bestod av 10 arbetsterapeuter och reviderades därefter. Under en period fick 14 konsekutivt utvalda patienter, med nytillkommen digitalnervskada vid Handkirurgiska klinikens rehabiliteringsavdelning läsa broschyren och svara på ett antal påstående om förståelsen av dess innehåll. Resultat: En broschyr för patienter med digitalnervskada togs fram. Utvärderingsfrågorna som patienterna svarade på visade på mycket god förståelse av innehållet. Diskussion: Broschyren kan fungera som ett komplement vid muntlig information för patienter. Metoden att utforma broschyren fungerade bra och kan rekommenderas

Identification of Breast Cancer Stem Cell Related Genes Using Functional Cellular Assays Combined With Single-Cell RNA Sequencing in MDA-MB-231 Cells

Breast cancer tumors display different cellular phenotypes. A growing body of evidence points toward a population of cancer stem cells (CSCs) that is important for metastasis and treatment resistance, although the characteristics of these cells are incomplete. We used mammosphere formation assay and label-retention assay as functional cellular approaches to enrich for cells with different degree of CSC properties in the breast cancer cell line MDA-MB-231 and performed single-cell RNA sequencing. We clustered the cells based on their gene expression profiles and identified three subpopulations, including a CSC-like population. The cell clustering into these subpopulations overlapped with the cellular enrichment approach applied. To molecularly define these groups, we identified genes differentially expressed between the three subpopulations which could be matched to enriched gene sets. We also investigated the transition process from CSC-like cells into more differentiated cell states. In the CSC population we found 14 significantly upregulated genes. Some of these potential breast CSC markers are associated to reported stem cell properties and clinical survival data, but further experimental validation is needed to confirm their cellular functions. Detailed characterization of CSCs improve our understanding of mechanisms for tumor progression and contribute to the identification of new treatment targets

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition

The global burden of adolescent and young adult cancer in 2019 : a systematic analysis for the Global Burden of Disease Study 2019

Background In estimating the global burden of cancer, adolescents and young adults with cancer are often overlooked, despite being a distinct subgroup with unique epidemiology, clinical care needs, and societal impact. Comprehensive estimates of the global cancer burden in adolescents and young adults (aged 15-39 years) are lacking. To address this gap, we analysed results from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019, with a focus on the outcome of disability-adjusted life-years (DALYs), to inform global cancer control measures in adolescents and young adults. Methods Using the GBD 2019 methodology, international mortality data were collected from vital registration systems, verbal autopsies, and population-based cancer registry inputs modelled with mortality-to-incidence ratios (MIRs). Incidence was computed with mortality estimates and corresponding MIRs. Prevalence estimates were calculated using modelled survival and multiplied by disability weights to obtain years lived with disability (YLDs). Years of life lost (YLLs) were calculated as age-specific cancer deaths multiplied by the standard life expectancy at the age of death. The main outcome was DALYs (the sum of YLLs and YLDs). Estimates were presented globally and by Socio-demographic Index (SDI) quintiles (countries ranked and divided into five equal SDI groups), and all estimates were presented with corresponding 95% uncertainty intervals (UIs). For this analysis, we used the age range of 15-39 years to define adolescents and young adults. Findings There were 1.19 million (95% UI 1.11-1.28) incident cancer cases and 396 000 (370 000-425 000) deaths due to cancer among people aged 15-39 years worldwide in 2019. The highest age-standardised incidence rates occurred in high SDI (59.6 [54.5-65.7] per 100 000 person-years) and high-middle SDI countries (53.2 [48.8-57.9] per 100 000 person-years), while the highest age-standardised mortality rates were in low-middle SDI (14.2 [12.9-15.6] per 100 000 person-years) and middle SDI (13.6 [12.6-14.8] per 100 000 person-years) countries. In 2019, adolescent and young adult cancers contributed 23.5 million (21.9-25.2) DALYs to the global burden of disease, of which 2.7% (1.9-3.6) came from YLDs and 97.3% (96.4-98.1) from YLLs. Cancer was the fourth leading cause of death and tenth leading cause of DALYs in adolescents and young adults globally. Interpretation Adolescent and young adult cancers contributed substantially to the overall adolescent and young adult disease burden globally in 2019. These results provide new insights into the distribution and magnitude of the adolescent and young adult cancer burden around the world. With notable differences observed across SDI settings, these estimates can inform global and country-level cancer control efforts. Copyright (C) 2021 The Author(s). Published by Elsevier Ltd.Peer reviewe

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Women’s exposure to intimate partner violence and health effects

Abstract Background Intimate partner violence (IPV) directed at women is a violation of the human rights and its consequences affect women’s health profoundly. It exists in every country but can vary in prevalence and frequency. Aim The purpose of this study was to investigate associations between women’s exposure to IPV and somatic symptoms and gynaecological disease in Rwanda. Methods This cross-­‐sectional, population-­‐based study included young women aged 20-­‐35 years from the Sothern Province of Rwanda (n=477). Face-­‐to-­‐face interviews were performed, using a questionnaire based on items from the World Health Organization (WHO) questionnaire for research on IPV. Bivariate and multivariate statistical analyses have been executed calculating adjusted odds ratios (OR) with 95% confidence interval (Cl). Results The odds for associations between physical and psychological IPV and all our symptoms including gynaecological disease indicated statistical significance. Associations between sexual IPV directed at women and having chest pain (OR 3.15; 1.70-­‐5.81), heart palpitations (OR 2.29; 1.08-­‐4.86) and stomach pain (OR 1.89; 1.03-­‐3.49) were found statistically significant. The association between psychological IPV and chest pain showed the highest odds with OR 4.10 (2.31-­‐ 7.31). All forms of violence were associated with stomach pain, chest pain and health palpitations. Conclusion In this setting, women who have been exposed to IPV during the past year were more likely to suffer from various common symptoms, such as headache, fatigue, stomach pain, and gynaecological disease. The prevalence of common symptoms is interpreted as a sign of distress caused by IPV exposure

Tumor cell heterogeneity profiling using single-cell analysis

Cancer is a diverse disease with large variations between tumor types and patients regarding tumor progression and prognosis. Additionally, most individual tumors are heterogeneous, containing subpopulations of cells with various characteristics. Numerous factors affect the differences observed between tumor cells, such as variations in genetics, epigenetics, cellular states and the microenvironment surrounding the individual cells. One clinically relevant subpopulation, commonly referred to as cancer stem cells, consists of cells with stem cell characteristics. These are present in many tumor types and are known to be important for tumor development and treatment resistance. The tumor microenvironment is a key factor affecting the cellular phenotype, including the cancer stem cell subpopulation. Analysis at cell population level will not capture the true variations between individual cells. Instead, single-cell analysis offers new means to study and understand cellular and molecular differences between tumor subpopulations. The main objective of this thesis was to study tumor cell heterogeneity in myxoid liposarcoma and breast cancer with the help of single-cell gene expression analysis methods. We could generate a flexible workflow to measure gene expression, including the assessment of total mRNA amounts in each cell, using several diverse approaches developed from already existing protocols. Subsequently, we combined a number of functional cell culture methods to enrich for tumor cells with characteristic cellular properties together with single-cell gene expression profiling methods, to match phenotype with the corresponding transcription pattern. Single-cell analysis of myxoid liposarcoma cells, sorted based on the cell-cycle, identified a number of genes previously not reported as cell-cycle regulated and defined two subgroups of cells within the G1 phase. In the same tumor type, we identified a subpopulation of cells with cancer stem cell- and chemotherapy resistance properties associated with an active JAK-STAT signaling pathway. Here, a combination treatment of chemotherapy and JAK-STAT inhibition was in vitro shown to be more effective against tumor cells than chemotherapy alone. In breast cancer cells, we identified a number of potential biomarkers overexpressed in a subpopulation of cells with cancer stem cell characteristics. We also developed a new in vivo-like culture system based on decellularized human tumors to study the effect of the microenvironment on breast cancer cells. We demonstrated that the gene expression profiles of cells cultured in these patient-derived scaffolds closely mimic the profiles of in vivo cells. Furthermore, gene expression patterns changed differently depending on the patient-derived scaffold, which could be linked to patient recurrence. In conclusion, we developed single-cell analysis methods as well as a new in vivo-like model system. Furthermore, we identified genes and pathways connected to different subpopulations of myxoid liposarcoma or breast cancer cells that potentially can be used as biomarkers and future drug targets

Sustainable product characteristics’ impact on consumers’ purchase intention : in the Swedish fast fashion industry

Textilindustrin en av nutidens smutsigaste industrier och inte minst fast fashion-industrin haren väldigt stor negativ påverkan på miljön. Trots det framhäver marknadsföringen hos många av de största fast fashion-företagen idag hållbara produkter. Till följd av den rådandeklimatkrisen har detta uppmärksammats och bidragit till en hållbar utveckling av samhället. Hållbar utveckling är en utveckling som tillgodoser dagens behov utan att äventyra kommandegenerationers möjlighet att tillgodose sina behov. När då fast fashion-industrin revolutionerade textilindustrin på bekostnad av miljön, är det rimligt att ifrågasätta denna påstådda hållbarhethos deras produkter. Tidigare forskning har visat att hållbarhet har en positiv påverkan på konsumenters köpintention och även till viss mån specifika attribut som bidrar till detta samband. Därmed undersöks detta samband vidare med förhoppningen att det blir tydligare vilka attribut som har en inverkan på konsumenten vid önskan om att vilja köpa fast fashionplaggmed hållbara egenskaper. Genom en kvantitativ undersökning i form av en enkätundersökning samt hypotesprövningar undersöker denna uppsats fast fashionkonsumenters inställning till följande attribut: återvunna material, biologisk nedbrytbarhet, återanvändbarhet/återvinningsbarhet, miljömärkningar, socialt hållbara märkningar, ekologiska material och närliggande produktion. Resultaten visades genom flertal regressionsanalyser som samtliga påvisade ett negativt samband mellan hållbarhetsattributen och köpintention. Varavfyra av dessa var signifikanta: återvunna material, biologisk nedbrytbarhet, miljömärkningar och ekologiska material. Detta betyder att en ökning av konsumentens köpintention mot fastfashion-plagg leder till att inställningen gentemot plagg med hållbarhetsattribut minskar. Slutsatsen som dras utifrån detta är att de konsumenter som har en låg intention att konsumerafast fashion-produkter värderar hållbarhet högt. The textile industry is one of the present day’s dirtiest industries and not least the fast fashion industry has a very large negative impact on the environment. Despite this, the marketing of many of the largest fast fashion companies today highlights sustainable products. This has been observed as a result of the current climate crisis and contributed to the sustainable development of today’s society. Sustainable development is a development that meets today's needs without compromising the ability of future generations to meet their needs. So, when the fast fashion industry revolutionized the textile industry at the expense of the environment, it is reasonable to question this alleged sustainability of their products. Previous research has shown that sustainability has a positive impact on consumers' purchase intention, and further, to some extent, specific attributes that contribute to this relationship. Thus, this connection is further studied with the hope that it will become clearer which attributes have an impact on the consumer's desire to buy fast fashion garments with sustainable characteristics. By using a quantitative study in the form of a survey, and implementation of hypothesis tests this essay examines fast fashion consumers' attitudes towards the following attributes: recycled materials, biodegradability, reusability/recyclability, eco-labels, socially sustainable labels, organic materials, and production nearby. The results were shown through several regression analyzes, all of which showed a negative relationship between the sustainability attributes and purchase intention. Four of which were significant: recycled materials, biodegradability, eco-label, and organic material. This means that an increase in the consumer's purchase intention towards fast fashion-products leads to a reduction in attitudes towards garments with sustainable attributes. The conclusion drawn from this is that consumers who have a low intention to consume fast fashion products value sustainability highly. The thesis is written in Swedish.

Att åtgärda undernäring hos äldre patienter i samband med höftfraktur : effekter av nutritionsinsatser

Många äldre drabbas av höftfraktur och ungefär hälften av dem är undernärda. En stor andel har ett dåligt näringstillstånd redan innan frakturen. Syftet med denna litteraturöversikt var att belysa vilka effekter olika typer av nutritions-insatser har för att åtgärda undernäring hos äldre patienter i samband med höftfraktur. Litteratur söktes i två databaser och i utvalda referenslistor. Relevanta artiklar kvalitetsbedömdes, varefter tio kvantitativa vetenskapliga artiklar inkluderades. Texterna analyserades genom att de först lästes igenom flera gånger, varefter övergripande ämnesområden identifierades. Likheter och skillnader mellan studierna söktes och materialet sorterades. Analysen resulterade i fyra övergripande ämnesområden samt i tre kategorier med åtta undergrupper. Resultatet visade att energiintaget hos äldre patienter som opererats för en höftfraktur ofta var mindre än det beräknade behovet, oavsett om de fick någon typ av nutritionsinsats eller om de fick vanlig omvårdnad. Förändringar av nutritionsstatus visades ofta både hos patienter som fick någon typ av nutritionsinsats och hos patienter som fick vanlig omvårdnad. Detta tyder på att det kan ha varit något annat än nutritionsinsatsen som påverkade patienternas nutritionsstatus. En slutsats var att det krävs en kombination av olika typer av nutritionsinsatser för att åtgärda undernäring hos äldre patienter i samband med höftfraktur

Laborativt material i matematikundervisningen : En systematisk litteraturstudie om laborativt materials funktion för elevers lärande i matematik

Syftet med denna systematiska litteraturstudie är att beskriva laborativt materials funktion i relation till elevers lärande i matematik, med fokus på elever i åldrarna 5–7 år. I denna systematiska litteraturstudie har tio vetenskapliga artiklar granskats och analyserats för att kunna besvara studiens syfte och frågeställningar. Det råder delade meningar i skolans värld om huruvida laborativt material ger en positiv effektivt för elevers lärande inom matematikundervisningen eller inte. Majoriteten av artiklarna som valts ut för denna studie förespråkar laborativt material som gynnsamt för elevers lärande. Flertalet av forskarna är dock tydliga med att lärares kunskaper kring dess användande i undervisningen är bristande. Flera av artiklarna diskuterar även olika undervisningsmetoder som är relevanta för elevers matematiska lärande. En av dessa undervisningsmetoder är arbetet från konkret matematisk kunskap till abstrakta matematiska fenomen. Utifrån granskad litteratur går det inte att påvisa en större skillnad, i utvecklingen av elevers lärande, om man använder sig av laborativt material eller inte i matematikundervisningen. Resultatet som kommit fram i granskningen av studiens artiklar har inte kunnat besvara studiens frågeställningar klart och tydligt. Därför bör en vidare forskning på detta ämne göras. Detta för att kunna få djupare förståelse kring laborativt materials funktion för elevers lärande i matematik