Cancer relapse in myelodysplastic syndrome (MDS) patients receiving bone marrow transplantation can be predicted with measurable residual disease (MRD), by droplet digital polymerase chain reaction (ddPCR). ddPCR quantifies genomic DNA molecules in an absolute manner using end-point amplification. This work aims to demonstrate that ddPCR assay evaluation can be conducted with fewer healthy donor controls compared to methods for relative quantification. The hypothesis is further studied by applying the total error computed in the ddPCR system as a threshold for background noise in personalized assays. Ten assays for detecting MRD markers were evaluated in an optimized PCR-plate setup for accuracy and reproducibility of background in negative controls. Additionally, data analysis of negative controls collected from patient tests complied to the empirical limit of blank based on false - positive counts, in each assay. The findings indicate that the optimized setup accurately determines background noise, and empirical cutoffs for individualized assays are reliable for performance evaluations. This study supports ddPCR integration into clinical settings for personalized mutation analyses in MDS, providing an optimized setup and alternative metrics of evaluating assay performance in respect to the absolute quantification methodology.

Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in children, characterized by symptoms such as hyperactivity, inattention and impulsivity, which often impairs the quality of life and successful performance. The disorder is associated with neurological, genetic and environmental factors affecting brain structure and cognitive function. Treatments include first-line pharmacological treatment, psychological therapy and neurofeedback training. Neurofeedback training with electroencephalography aims to regulate brain activity by targeting the dysregulated theta and beta rhythms, and the theta/beta ratio through personalized or standardized neurofeedback protocols to reduce ADHD symptoms and to improve cognitive function. This study aims to compare differences in the change of theta, beta and the individual alpha peak frequency (iAPF) based on personalized and standardized neurofeedback protocols targeting theta, beta and the theta/beta ratio. Nine children (age 7 to 13) were randomly assigned 16 sessions of personalized or standardized neurofeedback training over a span of two weeks; the neurofeedback protocol was personalized with the help of the iAPF. The theta and beta rhythms and the iAPF were measured by a quantitative electroencephalography and compared before and after the intervention by non-parametric Mann-Whitney-U, Wilcoxon Signed-Rank and Kruskal Wallis tests. These tests showed no significant difference between theta, beta and iAPF before and after the neurofeedback training within and across the personalized and standardized test groups. Previous studies showed an improvement of brain activity and cognitive function through neurofeedback training, but the small sample size and participant artifacts limited this study; concluding that valuable insights into neurofeedback training were gained.

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders affecting women of reproductive age. The major features of PCOS include polycystic cysts, excess androgens, and polycystic ovaries. Dihydrotestosterone (DHT) is an androgen, and when in excess causes associated with PCOS used to induce PCOS in animal models. In excess, DHT is associated with PCOS features. This study aimed to induce PCOS-like symptoms in Drosophila Melanogaster by supplementing DHT in the diet. The reproductive and metabolic features of PCOS were investigated. Fecundity rates, triglyceride levels, and gene expression levels of Toll and Med genes were assessed. The mean levels of triglycerides (P=0.023) had significantly increased in the high-dose DHT group (F2 generation). The mean expression levels (P=0.02) of the Toll gene were significantly increased in the low-dose DHT group. The treatment of DHT, however, did not affect the fecundity rates of the Drosophila. These findings suggest that DHT induces PCOS-associated metabolic features of lipid alterations and chronic low-grade inflammation. Assessment of the impact on fertility did not give conclusive results thus additional methodologies could be considered in studying the reproductive function. In conclusion, the results obtained in this study highlight the potential of using Drosophila as a model in PCOS research. / <p>Det finns övrigt digitalt material (t.ex. film-, bild- eller ljudfiler) eller modeller/artefakter tillhörande examensarbetet som ska skickas till arkivet.</p><p>There are other digital material (eg film, image or audio files) or models/artifacts that belongs to the thesis and need to be archived.</p>

Polycystic ovary syndrome is a common endocrine disorder that hinders women’s metabolism and reproductive health characterized by elevated androgen levels, polycystic ovaries, infertility, hirsutism, inflammation, obesity and insulin resistance. Research suggests mitochondrial dysfunction as an underlying cause of PCOS. This study aimed to develop a PCOS model of Drosophila melanogaster by induction of androgens (testosterone). The eggs of the wild-type stock flies were exposed to ethanol (control) and varying doses of testosterone (1-10mg/kg) and examined throughout development. Androgen and ethanol exposure caused alterations in the external morphology and ovarian appearance suggesting a link to PCOS-related symptoms. Fertility measured by fecundity rates decreased by 32.6% in androgen treated flies, though statistical tests revealed no significant differences between groups. Androgen exposure altered the mitochondrial gene expression but with no statistical difference between conditions in all genes (p values: MTCO1 = 0.368; SOD1 = 0.276; ATPsynthase = 0.102). MTCO1 showed approximately a 99% difference in low and high testosterone groups from control. SOD1 increased by 7645.72% and 98.8%, and ATPsynthase by 319.9% and 703.4%in low and high testosterone conditions, respectively. Triglyceride levels were elevated in androgen groups across F1 and F2 generations, indicating potential metabolic disruptions. Significant differences revealed between control and high testosterone (F1, p = 0.04; F2, p = 0.006) but not in low testosterone (F1, p = 0.402; F2, p = 0.328). Lack of significant findings renders the results unreliable. Future research with broader gene panels and improved methologies are required to validate the model's applicability for PCOS research. / <p>Det finns övrigt digitalt material (t.ex. film-, bild- eller ljudfiler) eller modeller/artefakter tillhörande examensarbetet som ska skickas till arkivet.</p><p>There are other digital material (eg film, image or audio files) or models/artifacts that belongs to the thesis and need to be archived.</p>

Diabetes, a prevalent global group of metabolic diseases, is characterized by hyperglycemia, which can lead to potential complications with prolonged exposure. Treatment goals involve lowering blood sugar levels and preventing future complications, with glycated hemoglobin, HbA1c serving as a marker for treatment control. HbA1c, forms when glucose binds to hemoglobin, aids in treatment monitoring. This study aimed to validate capillary HbA1c analysis on the Cobas Pro analyzer to comply with new in vitro diagnostic (IVD) regulations and streamline processes. Unlike the high-performance liquid chromatography method, (HPLC) to be replaced, all reagents used in the Cobas Pro are IVD-marked. Transitioning to capillary HbA1c analysis involves a change in measurement principle. The current method utilizes ion exchange chromatography with photometric detection, while the Cobas Pro employs turbidimetric inhibition immunoassay. The correlation coefficient for 31 capillary blood samples between the methods was 0.97, with most data points falling within the confidence interval. Despite obtaining a statistically significant difference from the paired ttest, the difference between the measurement values did not exceed 3 mmol/mol, which is the proposed clinical threshold. Comparison of capillary and venous blood analyzed with Cobas Pro yielded a linear correlation of 0.99, with no significant difference found by the paired ttest. A coefficient of variation (CV) under 4% was achieved for controls on the Cobas Pro. The primary advantage of transitioning the method was that it complied with IVDR regulations and enhances patient safety. Based on these results, the method is deemed safe for implementation.

Diet plays a crucial role in human health, particularly in modulating inflammation, a key factor in various chronic diseases. While several studies have explored the relationship between diet and disease, the complexity of this topic demands more extensive investigation. This study aims to examine the impact of seafood-rich diet, focusing on the fatty acid content, in modulating inflammation. The dietary intervention was similar to a Mediterranean diet, emphasizing unsaturated fats while minimizing saturated fats. Seafood and fish was prioritized as a source of polyunsaturated fatty acids. Blood biomarkers, including homocysteine, vitamin B12, folate, C-reactive protein, cholesterol, and triglycerides were analyzed before and after diet. Folate and vitamin B12 levels had increased significantly after diet, with folate increasing by 11.5 nmol/L (54% increase) and vitamin B12 by 37.25 pmol/L (9.99% increase). However, triglyceride levels experienced significant reduction by 0.32 mmol/L (29.5% decrease). Amino acid analysis indicated no significant changes. Gene expression analysis of interleukin-18, using quantitative polymerase chain reaction, was hindered by data contamination, precluding further interpretation. Tumor necrosis factor gene expression revealed no significant differences. However, the significant increase in vitamin B12 and folate levels stays an important discovery. Both molecules play essential roles in a pathway aimed at reducing homocysteine levels, which is associated with inflammation. This finding underscores the potential of seafood-rich diet in preventing inflammation. Additionally, the study lays groundwork for potential improvements in dietary guidelines as a preventative strategy against inflammatory diseases.

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