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Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total pancreatectomy. The histology was atypical with pronoun
Hydrated electrons are important in radiation chemistry and charge-transfer reactions, with applications that include chemical damage of DNA, catalysis, and signaling. Conventionally, hydrated electrons are produced by pulsed radiolysis, sonolysis, two-ultraviolet-photon laser excitation of liquid water, or photodetachment of suitable elect
A major focus of research in the seismic industry of the past two decades has been the acquisition and subsequent separation of seismic data using multiple sources fired simultaneously. The recently introduced method of signal apparition provides a new take on the problem by replacing the random time-shifts usually employed to encode the different sources by fully deterministic periodic time-shift
Aims/hypothesis: Sodium–glucose cotransporter (SGLT) 2 inhibitors constitute a new class of glucose-lowering drugs, but they increase glucagon secretion, which may counteract their glucose-lowering effect. Previous studies using static incubation of isolated human islets or the glucagon-secreting cell line α-TC1 suggested that this results from direct inhibition of alpha cell SGLT1/2-activity. The
Background: Life expectancy is reduced by 19 years in men and 17 in women with psychosis in Sweden, largely due to cardiovascular disease. Aim: Assess whether a psychosocial health promotion intervention improves cardiometabolic risk factors, quality of life, and severity of illness in patients with psychotic disorders more than treatment as usual. Methods: A pragmatic intervention trial testing a
Recently, it has been confirmed that extreme solar proton events can lead to significantly increased atmospheric production rates of cosmogenic radionuclides. Evidence of such events is recorded in annually resolved natural archives, such as tree rings [carbon-14 ( 14
Immunoglobulins or antibodies are the main effector molecules of the B-cell lineage and are encoded by hundreds of variable (V), diversity (D), and joining (J) germline genes, which recombine to generate enormous IG diversity. Recently, high-throughput adaptive immune receptor repertoire sequencing (AIRR-seq) of recombined V-(D)-J genes has offered unprecedented insights into the dynamics of IG re
The European Academy of Dermatology and Venereology (EADV) Task Forces (TFs) on Quality of Life (QoL) and Patient Oriented Outcomes, Melanoma and Non-Melanoma Skin Cancer (NMSC) present a review of the literature and position statement on health-related (HR) QoL assessment in skin cancer patients. A literature search was carried out to identify publications since 1980 that included information abo
We study laser-assisted photodetachment time delays by attosecond pulse trains from the closed-shell negative ions F− and Cl−. We investigate the separability of the delay into two contributions: (i) the Wigner-like delay associated with one-photon ionization by the attosecond pulse train and (ii) the delay associated with the exchange of an additional laser photon in the presence of the potential
Introduction: Chronic inflammation plays a critical role in lymphomagenesis and several dietary factors seem to be involved its regulation. The aim of the current study was to assess the association between the inflammatory potential of the diet and the risk of lymphoma and its subtypes in the European Investigation into Cancer and Nutrition (EPIC) study. Methods: The analysis included 476,160 sub
We propose a technique to fully characterize the temporal structure of extreme ultraviolet pulses by ionizing a bound coherent electronic wave packet. The influence of the dipole phase, which is the main obstacle for state-of-the-art pulse characterization schemes, can be eliminated by angle integration of the photoelectron spectrum. We show that in particular, atomic Rydberg wave packets are idea
