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As cardio metabolic disease manifestations tend to cluster in families there is a need to better understand the underlying mechanisms in order to further develop preventive strategies. In fact, genetic markers used in genetic risk scores, important as they are, will not be able alone to explain these family clusters. Therefore, the search goes on for the so called missing heritability to better ex
Approximately 25% of all patients with stage II colorectal cancer will experience recurrent disease and subsequently die within 5 years. MicroRNA-21 (miR-21) is upregulated in several cancer types and has been associated with survival in colon cancer. In the present study we developed a robust in situ hybridization assay using high-affinity Locked Nucleic Acid (LNA) probes that specifically detect
Resistance to activated protein C (APC) is the most prevalent inherited cause of venous thrombosis. The APC resistance phenotype is associated with a single point mutation in the factor V gene, changing Arg506 in the APC cleavage site to a Gln. We have investigated 50 Swedish families with inherited APC resistance for this mutation and found it to be present in 47 of them. Perfect cosegregation be
This dissertation is an anthropological study of war and violence in the volatile eastern territories of the Democratic Republic of Congo. The ethnographic focus is on one of the largest rebel groups currently operating in the Congo conflicts, the Hutu-dominated Democratic Forces for the Liberation of Rwanda (FDLR). These Hutu rebels arrived in the Congo in 1994, after the genocide in neighboring
BackgroundSymptom severity cutoffs for body dysmorphic disorder (BDD) are lacking, hindering communication between professionals and with the patient community.MethodWe pooled data from 11 clinical trials or high-quality cohort studies from specialist clinics, totaling 804 individuals with BDD (80 % girls/women, 67 % adults). All participants had baseline scores on the adult or adolescent versions
Simulating temporal changes in breast tissue has been challenging, despite advancement in virtual clinical trials. This study aims to enable virtual trials over time, motivated by interest in the effect of tissue involution on tumor visibility. We present a framework for creating 3D voxel-based breast phantoms and lesions using in-house Perlin Noise-based algorithm. The framework consists of three
The standard assessment of mental health typically involves clinical interviews conducted by highly trained clinicians. While effective, this approach faces substantial limitations, including high costs, high clinician workload, variability in expertise, and a lack of standardization. Recent progress in large language models (LLMs) offer a promising avenue to address these limitations by simulatin
What does it mean to live with fossil fuels? Studying farmers in the sugar beet districts on the plains of Southern Scandinavia, this thesis investigates the history and ethnography of a troubled relationship between subterranean energy and everyday life. How did it come about that farmers first came to depend on fossil fuels? What changes followed in their use of the land and their gendered divis
BACKGROUND Aspirin reduces the incidence of colorectal adenoma and colorectal cancer among high-risk persons. Observational studies suggest that aspirin may also improve disease-free survival after diagnosis, particularly among patients with tumors harboring somatic PIK3CA mutations. However, data from randomized trials are lacking. METHODS We conducted a double-blind, randomized, placebo-controll
Despite incredible progress in cancer treatment, therapy resistance remains the leading limiting factor for long-term survival. During drug treatment, several genes are transcriptionally upregulated to mediate drug tolerance. Using highly variable genes and pharmacogenomic data for acute myeloid leukemia (AML), we developed a drug sensitivity prediction model for the receptor tyrosine kinase inhib
Complex diseases are caused by a combination of genetic, lifestyle, and environmental factors and comprise common noncommunicable diseases, including allergies, cardiovascular disease, and psychiatric and metabolic disorders. More than 25% of Europeans suffer from a complex disease, and together these diseases account for 70% of all deaths. The use of genomic, molecular, or imaging data to develop
Transcriptome-based molecular subtypes of muscle-invasive bladder cancer (MIBC) have been shown to be both prognostic and predictive, but are not used in routine clinical practice. We aimed to develop a feasible, reverse transcription quantitative polymerase chain reaction (RT-qPCR)-based method for molecular subtyping. First, we defined a 68-gene set covering tumor intrinsic (luminal, basal, squa
Purpose: Infections from the oral microbiome may lead to exacerbations of chronic obstructive pulmonary disease (COPD). We investigated whether advanced dental cleaning could reduce exacerbation frequency. Secondary outcomes were disease-specific health status, lung function, and whether the bacterial load and composition of plaque microbiome at baseline were associated with a difference in outcom
Although virus-negative Merkel cell carcinoma (MCC) is characterized by a high frequency of UV-induced mutations, the expression of two viral oncoproteins is regarded as a key mechanism driving Merkel cell polyomavirus‒positive MCC. The cells in which these molecular events initiate MCC oncogenesis have yet not been identified for both MCC subsets. A considerable proportion of virus-negative MCC i
BACKGROUND: Type 2 diabetes (T2D) has been reproducibly clustered into five subtypes based on six-clinical variables; age at diabetes onset, body mass index (BMI), Glutamic acid decarboxylase autoantibodies (GADA), glycated hemoglobin (HbA1c) and insulin secretion and resistance estimated as HOMA2B and HOMA2IR derived from fasting glucose and Cpeptide. These subtypes have different disease progr
