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In vitro modeling of complex diseases is now a possibility with the use of patient-derived induced pluripotent stem (iPS) cells. Their stem cell properties, including self-renewal and their potential to virtually differentiate into any cell type, emphasize their importance as a translational tool for modeling disorders that so far have been limited by the unavailability of primary cell lines, anim
The mechanisms driving clonal heterogeneity and evolution in relapsed pediatric acute lymphoblastic leukemia (ALL) are not fully understood. We performed whole genome sequencing of samples collected at diagnosis, relapse(s) and remission from 29 Nordic patients. Somatic point mutations and large-scale structural variants were called using individually matched remission samples as controls, and all
Diabetes is caused by an absolute (type 1) or relative (type 2) deficiency of insulin-producing β cells. We have disrupted expression of the mitochondrial protein frataxin selectively in pancreatic β cells. Mice were born healthy but subsequently developed impaired glucose tolerance progressing to overt diabetes mellitus. These observations were explained by impairment of insulin secretion due to
OBJECTIVE: To develop an index assessing the risks of low energy fractures (LEF) in patients prescribed antiepileptic drugs (AED) by exploring five previously suggested risk factors; age, gender, AED-type, epilepsy diagnosis and BMI.METHODS: In a population-based retrospective open cohort study we used real world data from the Electronic Health Register (EHR) in Region Kalmar County, Sweden. 23 20
This doctoral thesis in computational statistics utilizes both Monte Carlo methods(approximate Bayesian computation and sequential Monte Carlo) and machine-learning methods (deep learning and normalizing flows) to develop novel algorithms for inference in implicit Bayesian models. Implicit models are those for which calculating the likelihood function is very challenging (and often impossible),
Background Impaired orthostatic blood pressure response and syncope confer a high risk of falls and trauma. The relationship between a history of unexplained syncope and orthostatic hypotension (OH) with subsequent fractures, however, has not been thoroughly examined. In this study, we aimed to investigate the relationship between previous hospital admissions due to unexplained syncope and OH and
Background: Oropharyngeal cancer (OPC) is an important cause of cancer-related mortality. Early detection of OPC results in a favorable prognosis and higher survival rates. Infection by high-risk types of human papillomavirus (HPV) is a risk factor for OPC with an upward trend globally. Medical students' knowledge and awareness of HPV-related OPC can be crucial in the preventive efforts. Aim: To a
Background: Treatment-related white blood cell (WBC) toxicity has been associated with an inferior prognosis in different malignancies, including anal cancer. The aim of the present study was to investigate predictors of WBC grade ≥ 3 (G3+) toxicity during chemoradiotherapy (CRT) of anal cancer. Methods: Consecutive patients with locally advanced (T2 ≥ 4 cm—T4 or N+) anal cancer scheduled for two
Achilles tendons are mechanosensitive, and their complex hierarchical structure is in part the result of the mechanical stimulation conveyed by the muscles. To fully understand how their microstructure responds to mechanical loading a non-invasive approach for 3D high resolution imaging suitable for soft tissue is required. Here we propose a protocol that can capture the complex 3D organization of
The aim was to describe food intake over time in children and adolescents, with respect to age and gender. The present study was a repeated cross-sectional study using self-reported data from a health questionnaire. Data were collected from the School Health Services in south-east Sweden from 44 297 students, 10, 13-14 and 16 years of age, 48 % girls and 52 % boys from 2009/2010 to 2015/2016. Repo
Rationale: Untreated obstructive sleep apnea (OSA) is associated with adverse outcomes in patients with coronary artery disease (CAD). Continuous positive airway pressure (CPAP) is the most common treatment, but despite interventions addressing established adherence determinants, CPAP use remains poor. Objectives: To determine whether physiological traits that cause OSA are associated with long-te
BACKGROUND: Single nucleotide polymorphisms (SNPs) in the promoter region of CRYAB gene have been associated with in multiple sclerosis. CRYAB gene, which encodes alpha B-crystallin (a member of small heat shock protein), was reported as a potential autoimmune target. In this study we investigated whether SNPs in the promoter region of CRYAB gene were also important in the etiology of Type 1 diabe
Societal Impact StatementBiodiversity loss is happening at an unprecedented rate. Understanding and protecting biodiversity has never been more urgent, and scientific research is key to this. Fair and transparent access and benefit sharing policies enable research to take place, whilst supporting sustainable livelihoods of communities and ensuring benefits are shared. Current national legislation
Urbanization is gaining force globally, which challenges biodiversity, and it has recently also emerged as an agent of evolutionary change. Seasonal phenology and life cycle regulation are essential processes that urbanization is likely to alter through both the urban heat island effect (UHI) and artificial light at night (ALAN). However, how UHI and ALAN affect the evolution of seasonal adaptatio
PM10 from the wear of disc brakes could contribute up to 50 % of the total non-exhaust emissions from road transport in EU. The wear originates from the contact surfaces of the friction material and the disc. One possible way of decreasing the PM10 emissions is to change the materials of the contact pair in terms of composition and coatings. Therefore the particle emissions of three novel friction
Natural selection can play an important role in the origin of new species. When reproductive isolation evolves as a result of ecologically-based divergent natural selection, the process is referred to as ecological speciation. In most organisms, sufficient reproductive isolation is considered to be essential for the establishment of new species. However, reproductive isolation typically involves m
