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Aims/hypothesis: Systematic studies on the phenotypic consequences of variants causal of HNF1A-MODY are rare. Our aim was to assess the phenotype of carriers of a single HNF1A variant and genetic and clinical factors affecting the clinical spectrum. Methods: We conducted a family-based multigenerational study by comparing heterozygous carriers of the HNF1A p.(Gly292fs) variant with the non-carrier

Scanning coherent X-ray microscopy (ptychography) has gained considerable interest during the last decade since the performance of this indirect imaging technique does not necessarily rely on the quality of the X-ray optics and, in principle, can achieve highest spatial resolution in X-ray imaging. The method can be easily extended to 3D by adding standard tomographic reconstruction schemes. Howev

OBJECTIVES: To illuminate patterns observed in International Cancer Benchmarking Programme studies by extending understanding of the various influences on presentation and referral with cancer symptoms.DESIGN: Cross-country comparison of Denmark, England and Sweden with qualitative analysis of in-depth interview accounts of the prediagnostic process in lung or bowel cancer.PARTICIPANTS: 155 women

The zinc finger transcription factor Wilms' tumor gene 1 (WT1) acts as an oncogene in acute myeloid leukemia. A naturally occurring alternative splice event between zinc fingers three and four, removing or retaining three amino acids (+/-KTS), is believed to change the DNA binding affinity of WT1, although there are conflicting data regarding the binding affinity and motifs of the different isofor

Digital breast tomosynthesis (DBT) has become a standard screening tool for breast cancer. However, its diagnostic performance is still limited compared to contrast-enhanced MRI, especially in women with dense breasts. Ultrafast dynamic contrast-enhanced (UF DCE) MRI and diffusion-weighted imaging (DWI) offer a shorter scanning time than conventional MRI and have shown promise in previous studies.

Aims: The main aim of the present study was to identify factors influencing health-related quality of life (HRQoL), as measured by EQ-5D-5L, in individuals 1 year after the acute phase of COVID-19.Methods: This cross-sectional study included 75 participants (51% females), 1 year after confirmed SARS-CoV-2 infection (76% hospitalised). Associations between HRQoL, measured by patient-reported outcom

PURPOSE: To examine sex differences in health-related quality of life (HRQoL) among patients surgically treated for renal cell carcinoma (RCC) in Sweden, utilizing data from the National Swedish Kidney Cancer Register (NSKCR).METHODS: In this study of 4658 surgically treated RCC patients, data on HRQoL, clinical, demographic, and socioeconomic characteristics were retrieved from the NSKCR for pati

This study evaluated the adaptation of relapse prevention treatment, originally for substance use, to address problematic gaming in children and adolescents. The goal was to understand the feasibility of this treatment in child and adolescent mental health services from the clinicians’ perspective. Six clinicians, four women and two men aged 37–47 with 4–20 years of work experience, were interview

Contamination or damage to X-ray optics is becoming increasingly problematic for beamlines at 3rd and 4th generation storage-rings and FEL sources. Carbon contamination, induced by ultra-intense photon-beams, can cause a major loss in flux, focusing power, and specific absorptions which are detrimental to spectroscopy. For new light sources, with higher coherence, intensity, and repetition rates,

In June 2024, the community of Roxborough Park, Colorado conducted a wildfire evacuation exercise (or drill for short) that was observed by a team of researchers. This collaborative effort involved residents, community organizers, first responders, emergency managers, and researchers. The drill aimed to test and refine evacuation protocols, communication strategies, and coordination among various

BACKGROUND: Changes in Ischemic White matter hyperintensities volume (WMH) on MRI over time are associated with cognitive decline. We investigated whether changes in WMH volume over time exhibit WMH-normalized volume threshold effects on declining cognitive performance and whether these effects on cognition differ between deep white matter hyperintensities (DWMH) and periventricular white matter h

The aim of this work was to investigate and quantify the effects of system noise, nodule location, anatomical noise and anatomical background on the detection of lung nodules in different regions of the chest x-ray. Simulated lung nodules of diameter 10 mm but with varying detail contrast were randomly positioned in four different kinds of images: 1) clinical images collected with a 200 speed CR s

Objectives: To explore reasons for institutionalization of people with dementia according to informal caregivers as well as variation in reasons between countries. Design: An explorative cross-sectional study was conducted in 8 European countries. Setting: Per country, a minimum of 3 long term care facilities, offering care and accommodation as a package, participated in this study. Participating

Two systems for measurements of absorption and scattering properties, based on picosecond-pulse lasers and single-photon counting detection, were characterized using a detailed protocol. The first system utilizes diode lasers at 660, 785, 910 and 974 nm as light sources. The second employs a Ti:sapphire and a mode-locked dye laser to produce tunable pulses in the range 610 - 1000 nm. Using solid t

Popular Abstract in Swedish Under de senaste åren har nödvändigheten att ta hänsyn till utsatta grupper i den svenska befolkningen och deras varierande behov lyfts fram i rapporter och utredningar om utformningen av vård och rehabilitering av äldre. En sådan utsatt grupp är äldre teckenspråkliga döva. Svårigheten att kommunicera, i kombination med åldersrelaterade sjukdomar, funktionsbegränsningarVery little is known about the consequences of aging and the wellbeing of deaf sign language users. This thesis contributes to filling this knowledge gap. The overarching aim was to gain further understanding and to increase the knowledge about quality of life, in terms of subjective wellbeing and health, activity and social contacts, among older deaf sign language users. After having established

We analyse recent experiments on momentum shearing interferometry of electron wave packets^1,2 by using an optical analogy with shearing interferometry for optical waves. This analogy offers a convenient point of view to discuss the capabilities and difficulties of this technique used to access the phase of electron wave packets.