We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. The affected children were all identified by clinical or research exome sequencing. Clinical data, including EEGs and MRIs, was comprehensive

CuInSe2 (CISe) colloidal quantum dots (QDs) display promising applications in photodetection especially within near-infrared (NIR) regions due to their high extinction coefficient and environmental-friendly. However, the high trap density and poor crystal quality introduced by the ternary structure result in low photodetection of CISe QDs devices. Herein, we dope transition metal manganese ions (M

COVID-19 shocked health and economic systems leaving millions of people without employment and safety nets. The pandemic disproportionately affects people with substance use disorders (SUDs) due to the collision between SUDs and COVID-19. Comorbidities and risk environments for SUDs are likely risk factors for COVID-19. The pandemic, in turn, diminishes resources that people with SUD need for thei

Air sparging of alkaline-extracted wheat bran hemicelluloses prior to ultrafiltration has been shown to increase the flux. The techno-economic impact of air sparging on the cost of concentration and purification of wheat bran hemicelluloses by ultrafiltration and diafiltration was studied in this work. Two alkaline hemicellulose solutions were purified until the conductivity of the diafiltration p

Many ecosystem services (ES) models exist to support sustainable development decisions. However, most ES studies use only a single modelling framework and, because of a lack of validation data, rarely assess model accuracy for the study area. In line with other research themes which have high model uncertainty, such as climate change, ensembles of ES models may better serve decision-makers by prov

Rhodothermus marinus has the potential to be well suited for biorefineries, as an aerobic thermophile that produces thermostable enzymes and is able to utilize polysaccharides from different 2nd and 3rd generation biomass. The bacterium produces valuable chemicals such as carotenoids. However, the native carotenoids are not established for industrial production and R. marinus needs to be genetical

Stroke is one of the most common diseases and has several potential consequences, such as psychological problems and pain. Return to work (RTW) after stroke in working-age individuals is incomplete. The present study aimed to investigate differences in self-perceived general health, pain, and depression between 1 and 5 years post-stroke related to RTW status. The study was nationwide, registry-bas

Purpose: The hippocampus is affected by tau pathology early in Alzheimer's disease (AD) development. Accurate quantification of hippocampal tau signal using the tau-PET tracer 18F-flortaucipir is complicated, however, by off-target binding in the adjacent choroid plexus. We here present a new method for compensating for this off-target choroid plexus signal. Methods: As off-target binding in the c

Whey powder rehydration is expected to be closely linked to both denaturation and lactosylation of the proteins. This study investigated the relation between the forced imbibition rate of spray-dried milk serum protein/lactose powders and the particle morphology and how it is related to the insoluble and lactosylated protein fraction, respectively. Despite extensive variation in protein denaturati

The mitochondrial genome (mitogenome) can help us understand the phylogenetic relationships within the genus Lethe and the subfamily Satyrinae. In this study, we sequenced the complete mitogenomes of 14 Lethe species, which range in size from 15,225 to 15,271 bp, with both 37 genes (13 PCGs, 22 tRNAs, 2 rRNAs) and a noncoding A + T-rich region. The gene arrangement and orientation is similar to ty

In this paper, a novel combined cooling, heating and power (CCHP) system consisting of a supercritical carbon dioxide (sCO2) power cycle, a transcritical carbon dioxide (tCO2) power cycle with a carbon dioxide based refrigeration cycle, and a direct heating (DH) system is proposed. In the novel system, the waste heat from sCO2 power cycle is recovered by the tCO2 power cycle to generate additional

Local strain development in the microstructure of a commercial 25Cr-7Ni super duplex stainless steel was mapped using high-energy x-ray diffraction during cathodic hydrogen charging under constant uniaxial load. The infusion of hydrogen resulted in tensile strains in austenite grains, one order of magnitude larger than those in the ferrite. Most strain evolution occurred at the near-surface, with

In this topical review we catagorise all ambient pressure x-ray photoelectron spectroscopy publications that have appeared between the 1970s and the end of 2018 according to their scientific field. We find that catalysis, surface science and materials science are predominant, while, for example, electrocatalysis and thin film growth are emerging. All catalysis publications that we could identify a

Calcareous nannofossils are considered to be the most productive calcifying organisms, but the impact of their emergence on the chemistry of the ocean in the Late Triassic is not understood yet. Evolutionary details of this bio-event are missing due to the scarcity of well-preserved outcrops worldwide. The current study focuses on the calcareous nannofossil assemblage of the middle Norian to lower

Alterations in the human metabolome occur years before clinical manifestation of type 2 diabetes (T2DM). By contrast, there is little knowledge of how metabolite alterations in individuals with diabetes relate to risk of diabetes complications and premature mortality. Metabolite profiling was performed using liquid chromatography-mass spectrometry in 743 participants with T2DM from the population-

We present a new experimental method that measures the compressibility of phenotype-specific cell populations. This is done by performing statistical analysis of the cell counts from the outlets of an acoustophoresis chip as a function of the increasing actuator voltage (i.e. acoustic energy density) during acoustophoretic separation. The theoretical separation performance curve, henceforth, Side-