Publikationer från Uppsala Universitet
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Regulatory and disruptive variants in the CLCN2 gene are associated with modified skin color pattern phenotypes in the corn snake
No full textBackground Snakes exhibit a broad variety of adaptive colors and color patterns, generated by the spatial arrangement of chromatophores, but little is known of the mechanisms responsible for these spectacular traits. Here, we investigate a mono-locus trait with two recessive alleles, motley and stripe, that both cause pattern aberrations in the corn snake. Results We use mapping-by-sequencing to identify the genomic interval where the causal mutations reside. With our differential gene expression analyses, we find that CLCN2 (Chloride Voltage-Gated Channel 2), a gene within the genomic interval, is significantly downregulated in Motley embryonic skin. Furthermore, we identify the stripe allele as the insertion of an LTR-retrotransposon in CLCN2, resulting in a disruptive mutation of the protein. We confirm the involvement of CLCN2 in color pattern formation by producing knock-out snakes that present a phenotype similar to Stripe. In humans and mice, disruption of CLCN2 results in leukoencephalopathy, as well as retinal and testes degeneration. Our single-cell transcriptomic analyses in snakes reveal that CLCN2 is indeed expressed in chromatophores during embryogenesis and in the adult brain, but the behavior and fertility of Motley and Stripe corn snakes are not impacted. Conclusions Our genomic, transcriptomic, and functional analyses identify a plasma membrane anion channel to be involved in color pattern development in snakes and show that an active LTR-retrotransposon might be a key driver of trait diversification in corn snakes
Russian Funded-Media in Africa : The cases of the Central African Republic and Burkina Faso
No full textRussia has in the last few years increased its footprint of influence in Africa. With that in mind this thesis investigates the framing of Russia’s presence and activities in Africa through analysis of two Russian-funded francophone media outlets, Sputnik Afrique and Afrique Media. It explores how these outlets construct narratives for their African audiences by focusing on the coverage of events in Central African Republic and Burkina Faso. The study analyses a dataset of articles published between January 2023 and September 2024, capturing the period before and after the establishment of Russian military bases in both countries in January 2024. The analysis shows how Russian funded media has blend narratives dear to Russia like sovereignty and multipolarity with those dear to African audiences like opposition to neo-colonialism to appeal to an African audience
Fast-ion phase-space tomography with wave-particle interactions in the ion cyclotron frequency range as prior
No full textThe fast-ion distribution function in fusion plasmas can be inferred by inverting Doppler-shifted measurements from fast-ion diagnostics. The full fast-ion distribution function can be parametrised by three constants of motion with the addition of a binary index. However, with a limited number of measurements, cogent prior information must be added to regularise the inverse problem, enabling the reconstruction of the distribution function. In this paper, we demonstrate how to incorporate wave-particle interactions in the ion cyclotron range of frequencies (ICRFs) as prior information with the future ITER tokamak as a test case. We find that the addition of ICRF physics as prior information improves the reconstruction of a test ICRF-heated fast-ion distribution function in ITER using synthetic data based on the planned collective Thomson scattering sightlines and the planned gamma-ray spectroscopy sightlines. The addition of such prior information is beneficial in the case of a limited phase-space coverage of fast-ion diagnostics
Att Inrama det Natursköna : Det Galanta Festandet i Rokoko-trädgården
No full textAntoine Watteau is known as the progenitor of the Fêtes Galantes in the early 18th century, predominantly depicting youthful members of the aristocracy socialising in lush parklands and gardenscapes. Although much research have been done on his work, this thesis presents an ecocritical analyses of his work. In relation to art history, ecocriticism has the ability to expose past human to more-than-human relationships against the backdrop of an increasingly artificial nature. In 18th century Europe, nature was referred to as a ‘she’ to be tamed and domesticated based on the societal standards of the time. Theoretically, I draw upon Theodor Adorno’s Aesthetic Theory originally published in 1970, Tim Ingold’s The Perception of the Environment (2000) as well as Donna Haraway and Judith Butler, together forming a framework largely based on dialectic oppositions, of which I have entitled ‘Aesthetic Growth Theory’. I explore three Fête Galante paintings The Love Lesson, Les Champs Élysées and Pèlerinage à l'île de Cythère of Antoine Watteau. Using this toolbox, looking at the composition, motifs and context, I dive into the materials used in the clothes worn by the characters, as well as the colours used for the paintings. Chronologically, the thesis aims to explore societal ideals regarding human-nature relationships in the early 1700’s, and how these ideals unfold and change throughout the century as industrialisation draws near. The nature settings of Watteau evoke a wide range of societal ideals, regarding nature, fashion, beauty and even class. Furthermore, the human interference in natural environments as shown in the three paintings through the presence of human infrastructure such as buildings and statues suggests a clear hierarchal relationship between human and nature. I ascertain that this divide is also mirrored in how nature is referred to as a ‘she’ which harkens to the patriarchal bounds of European feudalism.
Critical care nurses’ experiences ofethical challenges in end-of-life care
No full textBackground: In Swedish intensive care units, nine percent of patients do not survive despite receiving advanced life-sustaining treatments. As these patients transition to end-of-life care, ethical considerations may become paramount.Aim: To explore the ethical challenges that critical care nurses encounter when caring for patients at the end of life in an intensive care context.Research design: The study used a qualitative approach with an interpretive descriptive design.Research context and participants: Twenty critical care nurses from eight intensive care units in an urban region in Sweden were interviewed, predominately women with a median age of fifty-one years.Ethical considerations: This study was approved by The Swedish Ethics Review Authority.Findings: Critical care nurses described encountering ethical challenges when life-sustaining treatments persisted to patients with minimal survival prospects and when administering pain-relieving medications that could inadvertently hasten patients’ deaths. Challenges also arose when patients expressed a desire to withdraw life-sustaining treatments despite the possibility of recovery or when family members wanted to shield patients from information about a poor prognosis; these wishes occasionally conflicted with healthcare guidelines. The critical care nurses also encountered ethical challenges when caring for potential organ donors, highlighting the balance between organ preservation and maintaining patient dignity.Conclusion: Critical care nurses encountered ethical challenges when caring for patients at the end of life.They described issues ranging from life-sustaining treatments and administration of pain-relief, to patient preferences and organ donation considerations. Addressing these ethical challenges is essential for delivering compassionate, person-centered care and supporting family members during end-of-life care in an intensive care context
Development and validation of ultra-performance liquid chromatography tandem mass spectrometry methods for the quantitative analysis of the antiparasitic drug DNDI-6148 in human plasma and various mouse biomatrices
No full textDNDI-6148 is a promising new oral drug for the treatment of cutaneous leishmaniasis (CL), a parasitic neglected tropical disease that affects impoverished populations worldwide. Preclinical target site pharmacokinetics (PK) studies are necessary to evaluate the actual exposure to DNDI-6148 of Leishmania parasites in the skin. To facilitate these investigations, we have developed and validated a reversed phase ultra-performance liquid chromatography coupled to tandem mass spectrometry (UPLC-MS/MS) method to quantify DNDI-6148 in relevant target site PK samples, adhering to the relevant International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) M10 guideline on bioanalytical method validation. Full validation was performed for the surrogate biomatrices human K2EDTA plasma, enzymatic digestion buffer and skin microdialysate. Partial validation was conducted for mouse K2EDTA plasma and tissues. The tissue samples, including mouse skin, liver and spleen, were homogenized using a collagenase A-based enzymatic homogenization workflow. This method was found to be 2.9-fold more effective in extracting DNDI-6148 from skin than the commonly used mechanical homogenization. Protein precipitation was subsequently carried out for all biomatrices. A surrogate biomatrix was used for each method and the range was specifically developed for its intended application, resulting in a linear concentration range of 5.00-2000 ng/mL, 2.00-1000 ng/mL, and 3.00-600 ng/mL for human K2EDTA plasma, enzymatic digestion buffer and microdialysate, respectively. Each biomatrix had intra- and inter-run accuracy and precision within 15 % for all concentration levels. Matrix effects did not affect the determination of DNDI-6148, since the stable isotopically-labelled internal standard for DNDI-6148 effectively compensated for these matrix effects. Total recovery across all methods was between 73.5 % and 81.3 % (CV ≤4.5 %). DNDI-6148 was stable under various conditions in all the tested biomatrices. However, a decrease in its concentration was observed during homogenization, for which the internal standard corrected adequately. The suitability of the method for use in future preclinical research involving DNDI-6148 was demonstrated in a preclinical target site PK study using a CL-infected murine model
Preliminary Validation of a Diary Approach to Monitor Daily Adolescent and Parental Predictors of Postoperative Recovery-A Longitudinal Diary Study in Adolescents Undergoing Spinal Fusion Surgery
No full textBACKGROUND: About 1 in 5 adolescents undergoing major surgery develops chronic postsurgical pain. Various risk and resilience factors for recovery and chronic postsurgical pain have been identified, including parental characteristics. However, research commonly relies on nomothetic data, whereas psychometric properties of diaries assessing pediatric postsurgical recovery in everyday life are understudied. This study aimed to evaluate preliminary reliability, validity, and variability of diary data in adolescents and their parents after spinal fusion surgery. METHODS: Adolescents with idiopathic scoliosis undergoing spinal fusion surgery and their parents were asked to complete daily diaries for 7 consecutive days at 5 time points: before surgery and 3 weeks, 6 weeks, 6 months, and 12 months after surgery. Diaries were developed based on validated questionnaires measuring relevant constructs of pediatric postsurgical recovery. Internal consistency; test-retest reliability; convergent, divergent, and concurrent criterion validity; and variability were examined. RESULTS: The sample comprised 95 adolescents and 95 parents. Overall compliance rate was approximately 80% in both adolescents and parents, with a total of 5282 diary entries analyzed. Internal consistency for multi-item variables ranged from good to excellent (α = 0.82-0.93) for adolescent data and acceptable to excellent (α = 0.74- 0.93) for parent data. All test-retest correlations were significant-large (ρ = 0.60-0.76) for adolescent data and medium to large for parent data (ρ = 0.57-0.80). Regarding validity, all but 3 correlations between diary variables were significant. Diary variables generally correlated significantly with corresponding questionnaire data. Variability was low in some variables. CONCLUSIONS: These results provide evidence for psychometric properties regarding reliability, validity, and variability of diaries monitoring processes of postsurgical recovery in everyday life in adolescents undergoing spinal fusion surgery. Replication is suggested for refinement and further validation, with particular attention to variability and evaluation of sensitivity to change
The impact of pharmacotherapy for premenstrual dysphoric disorder on sleep
No full textPremenstrual dysphoric disorder (PMDD) affects a subset of women of reproductive age, characterized by severe mood disturbances and physical symptoms during the luteal phase of the menstrual cycle. Symptoms include mood swings, irritability, anxiety, fatigue, physical discomfort, and disruptions to sleep and circadian rhythms, such as altered melatonin secretion. Despite the prevalence of these symptoms, the impact of PMDD treatments on sleep and circadian markers, like melatonin, remains insufficiently understood. This review examines how dysregulated serotonin signaling, disrupted allopregnanolone activity (a neurosteroid derived from progesterone), and aberrant circadian rhythms contribute to PMDD. It also explores the effects of pharmacological treatments, including selective serotonin reuptake inhibitors, on sleep and melatonin regulation, and how these factors influence treatment outcomes. Additionally, the use of hypnotics and sedatives to manage sleep disturbances in PMDD is considered, weighing their potential benefits and risks. A deeper understanding of the interaction between PMDD symptoms, sleep, and circadian rhythms is crucial for developing more effective treatments. Further research is needed to explore the relationship between symptom management, sleep patterns, and circadian function in PMDD, and to determine how these factors can be optimized to improve clinical outcomes and quality of life for women affected by the disorder
Loneliness Among Parents in Sweden Who Regret Having Children
No full textLoneliness is a common feeling often framed in negative terms. It can take several forms, including social, emotional, and existential loneliness, or through the concept of solitude, which is the desire to be alone. This qualitative study explores these types of loneliness among Swedish parents who regret having children. Our analysis of 29 interviews shows that loneliness is intertwined with regretting parenthood. Participants perceived that parental regret was unconventional, socially taboo, and unspeakable, which resulted in feelings of loneliness, shame, and guilt. They also reported that healthcare professionals, friends, and family rarely acknowledge parental feelings of regret and loneliness. Since loneliness is associated with the potential for mental health issues, it is important to build support structures for parents. In Sweden, the welfare state relies on healthcare professionals (such as nurses, midwives, and psychologists) to support parents. There is hence a need to create better support structures for parents dealing with regret and loneliness, including specialized training for healthcare professionals who work with these vulnerable groups
