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Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8–10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 prote
Human metapneumovirus (hMPV) is associated with respiratory tract illness especially in young children. Two hMPV genetic lineages, A and B, and four sublineages A1, A2 and B1, B2 have been defined. Infection with hMPV occurs through membrane fusion mediated by the hMPV fusion (F) protein. In this study, the inter- and intra-patient genetic diversity of the lineage A hMPV F gene was investigated. T
Tau positron emission tomography ligands provide the novel possibility to image tau pathology in vivo. However, little is known about how in vivo brain uptake of tau positron emission tomography ligands relates to tau aggregates observed post-mortem. We performed tau positron emission tomography imaging with 18F-AV-1451 in three patients harbouring a p.R406W mutation in the MAPT gene, encoding tau
Accurate predictions of net ecosystem productivity (NEPc) of forest ecosystems are essential for climate change decisions and requirements in the context of national forest growth and greenhouse gas inventories. However, drivers and underlying mechanisms determining NEPc (e.g., climate and nutrients) are not entirely understood yet, particularly when considering the influence of past periods. Here
Aim: Clinical seizures are common after cardiac arrest and predictive of a poor neurological outcome. Seizures may be myoclonic, tonic-clonic or a combination of seizure types. This study reports the incidence and prognostic significance of clinical seizures in the target temperature management (TTM) after cardiac arrest trial. Our hypotheses were that seizures are associated with a poor prognosis
In Parkinson’s disease, long-term dopamine replacement therapy is complicated by the appearance of L-DOPA-induced dyskinesia (LID). One major hypothesis is that LID results from an aberrant transcriptional program in striatal neurons induced by l-DOPA and triggered by the activation of ERK. To identify these genes, we performed transcriptome analyses in the striatum in 6-hydroxydopamine-lesioned m
We prospectively investigated anti-Müllerian hormone (AMH) as a measure of ovarian insult in young females during and after treatment for Wilms tumor (WT), osteosarcoma (OS), and Ewing sarcoma (ES). Twenty-one female childhood cancer patients, with a mean age of 7.9 years (range 0.6-17), entered the study. Levels of AMH, follicle-stimulating hormone (FSH), and luteinizing hormone were monitored at
Succinic acid production from the monosaccharides xylose, arabinose, glucose, mannose and galactose was studied using the bacterium Actinobacillus succinogenes. In Duran bottle cultures, containing 10 g/L of each of sugar, succinic acid was produced from all sugars except for galactose. The highest succinate yield, 0.56 g/g, was obtained with glucose, whereas the succinate yield was 0.42, 0.38 and
The ongoing pursuit of advanced multicomponent magnetic nanomaterials with tailored functionalities for applications in data storage, spintronics, and biomedicine necessitates novel synthesis approaches beyond conventional template-based methods. In response, this thesis investigates the generation, self-assembly, and characterisation of largely little-known Fe0.10Ni0.40Co0.25Pt0.25 medium-entropy
Background.In some regions, including the Baltic Sea, fatty fish such as salmon and herring contain high levels of polychlorinated dibenzodioxins and dibenzofurans. We investigated human exposure to these potentially toxic substances in relation to the consumption of fish from the Baltic Sea.Methods.Plasma levels of 10 different dibenzofurans and 7 dioxins were analyzed in three groups of Swedish
In order to elucidate the multidimensional response mechanism for migration of antibiotics and spread of resistome in riverbed driven by river water level fluctuations, dynamic reactors were set up to simulate the variation of sulfamethazine vertical migration, biotransformation and resistance genes expression according to fluctuation direction and magnitude. The upward fluctuation of water level
Black carbon (BC) is produced by incomplete combustion of biomass and fossil fuels and is released as aerosols to the atmosphere with effects on the climate, environment, and human health. Current BC emissions are well monitored in many parts of the world. However, the geographical coverage is limited, and historical records of BC accumulation are still scarce. Here we present a quantification of
This work presents an alternative cetane rating method using a production compression ignition (CI) engine, offering an accessible approach for preliminary fuel evaluation without the need for specialized equipment. As part of this work, an empirical correlation was developed linking ignition delay (ID) to both the cetane number (CN) and intake oxygen concentration. The test method follows the pri
BackgroundThe captive bolt gun is a tool for stunning animals in the meat industry and is not considered a firearm under the Swedish firearm legislation. This study aimed to explore the involvement of such devices in human fatalities, with an emphasis on suicides. Epidemiological characteristics from a longitudinal perspective, as well as risk factors and injury patterns were analyzed.MethodSuicid
Background: Prolonged time to surgery (TTS) after neoadjuvant chemoradiotherapy (nCRT) may enable malnourished oesophageal cancer patients' nutritional status to recover better, possibly improving outcomes with fewer complications and better overall survival (OS) after oesophagectomy. Methods: This is a substudy within a multicentre randomised controlled trial comparing outcomes in patients with o
BackgroundBreathlessness is a common and distressing symptom across a wide range of medical conditions. Different aspects (dimensions) of breathlessness can be assessed using the Multidimensional Dyspnoea Profile (MDP) and Dyspnoea-12 (D12) questionnaires. We aimed to examine whether the order of completing MDP and D12 affects the breathlessness responses in people with cardiorespiratory disease.M
The efficiency and stability of wide bandgap (WBG) perovskite solar cells (PSCs) are constrained by photo-induced halide segregation and severe non-radiative recombination, which significantly impedes the advancement of high-efficiency and stable perovskite/silicon tandem solar cells (PSTSCs). In this work, a potassium 4-sulfonic-1,8-naphthalic anhydride salt (4S-NAPS), featuring dual-anchoring si
Purpose: This study aimed to evaluate the ability of a thigh-worn accelerometer to detect walking during daily life in individuals with Lumbar Spinal Stenosis (LSS). Two hypotheses were made regarding how walking measurements from the accelerometer, a walking test, and an ankle-worn StepWatch would relate in order for the accelerometer to be valid. The hypotheses were: (a) there is no difference b
