Purpose: This study aimsed to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals. Methods: Individuals harboring heterozygous missense or loss-of-function variants in SNAP25 were assembled through collaboration with international colleagues,

An upgraded TASISpec setup, with the addition of a veto DSSD and the new Compex detector-germanium array, has been employed with the gas-filled recoil separator TASCA at the GSI Helmholtzzentrum für Schwerionenforschung Darmstadt, to study flerovium (element 114) decay chains. The detector upgrades along with development of new analytical techniques have improved the sensitivity of the TASISpec se

Det sägs att teknik och automatisering besparar oss tid. Christina Gratorp och Alf Hornborg visar hur den uppfattningen bygger på magiskt tänkande, där vi väljer att bortse från arbetskraften och arbetstiden som krävs för att bygga maskinerna och hålla tekniken rullande.

Pineapple (Ananas comosus) is a widely consumed tropical fruit. UV-C irradiation reduces the microbial load of fruits and contributes to the increase their content of phenolic compounds (PCs). Snack-bars were prepared batch using UV-C irradiated pineapple slices (irradiated pineapple bar, IPB) or with non-irradiated pineapple slices (non-irradiated pineapple bar, NIPB). Both snacks-bar samples wer

In the wake of the discovery of superheavy elements, nuclear spectroscopy experiments aim at providing anchor points at the uppermost end of the nuclear chart for nuclear structure theory, which otherwise had to solely rely on extrapolations. In two runs in 2019 and 2020, such a nuclear spectroscopy experiment was conducted to study α-decay chains stemming from isotopes of flerovium (element Z = 1

Carpal Tunnel Syndrome (CTS) is the most common compression neuropathy causing pain, impaired hand function and sick leave. CTS is usually diagnosed based on patient history and clinical tests. In some patients an additional ENeG is done to support the diagnosis. However, ENeG can show pathology in healthy people and show normal values in patients with overwhelming clinical signs of CTS. Tradition

Background: Studies on the incidence of Attention Deficit Hyperactivity Disorder (ADHD) among immigrant children and adolescents is limited and results are mixed. The aim of this study was to compare the ADHD risk between first- and second-generation immigrants aged 4–16 years and their native peers in Sweden. Methods: This was an open nationwide retrospective cohort study. We included 1,902,526 n

MuscleAtlasExplorer is a freely available web application that allows for the exploration of gene expression data from human skeletal muscle. It draws from an extensive publicly available dataset of 1654 skeletal muscle expression microarray samples. Detailed, manually curated, patient phenotype data, with information such as age, sex, BMI and disease status, are combined with skeletal muscle gene

Here we show that scratch family transcriptional repressor 1 (SCRT1), a zinc finger transcriptional regulator, is a novel regulator of beta cell function. SCRT1 was found to be expressed in beta cells in rodent and human islets. In human islets, expression of SCRT1 correlated with insulin secretion capacity and the expression of the insulin (INS) gene. Furthermore, SCRT1 mRNA expression was lower