ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG. Other common phenotypes include developmental delay, seizures, intell

Oath-taking during Roman Antiquity constitutes a telling example of how words and matter interplay and relate to one another. Ancient Latin literature provides a myriad of representations of oaths sworn, both fictive and supposedly historical, where matter somehow figure in the procedure. In this study, a selection of personal oaths from Roman literature are explored in terms of materiality and ag

Adaptive radiation is a major source of biodiversity but the way in which known components of ecological opportunity, ecological differentiation, and reproductive isolation underpin such biodiversity patterns remains elusive. Much is known about the evolution of ecological differentiation and reproductive isolation during single speciation events, but exactly how those processes scale up to comple

This study aimed to map the existing initiatives regarding sustainable animal production in order to identify gaps that still need to be addressed to meet the needs of the future population.

This thesis delves into the multifaceted challenges of designing analog-to-digital converters (ADCs) tailored for high-speed and medium accuracy applications, particularly in deeply scaled-down CMOS technologies across five comprehensive chapters within its Introduction. Furthermore, it explores the evolution of mobile telephony from the first-generation (1G) to the last commercialized generation

Background and purpose: Tamoxifen remains an important adjuvant treatment in premenopausal patients with hormone receptor-positive breast cancer. Thus, determination of hormone receptors is important. Here, we compare cytosol-based methods, immunohistochemistry (IHC), and gene expression (GEX) analysis for determining hormone receptor status in premenopausal breast cancer patients from a randomise

Flowering time is an important phenological trait in plants and a critical determinant of the success of pollination and fruit or seed development, with immense significance for agriculture as it directly affects crop yield and overall food production. Shifts in the growth season, changes in the growth season duration and changes in the production rate are environmental processes (potentially link

This paper examines a programme initiated and managed by an entrepreneurial university in the United Kingdom (UK), aiming to foster the circular water economy in Sub-Saharan Africa. Our focus is on transitioning from conventional models of the entrepreneurial university to innovative forms of knowledge exchange that prioritise social innovation and sustainable development, as per the “engaged univ

The development of high-brilliance X-ray sources, such as the fourth-generation diffraction-limited storage rings and X-ray free-electron lasers, have opened up new possibilities for X-ray imaging and pushed the temporal resolutions of imaging techniques to unprecedented levels. Capturing fast dynamics in two-dimensional (2D), three-dimensional (3D), and even four-dimensional (4D, 3D + time) beyon

In this Perspective, we discuss thermal imbalance and the associated electron-mediated thermal transport in quantum electronic devices at very low temperatures. We first present the theoretical approaches describing heat transport in nanoscale conductors at low temperatures, in which quantum confinement and interactions play an important role. We then discuss the experimental techniques for genera

Background: Allergic contact dermatitis (ACD) from rubber glove usage is usually caused by rubber additives such as the accelerators. However, in analyses of the suspected gloves, ordinary rubber allergens are not always found. Accelerator-free rubber gloves are available, but some patients with accelerator allergy do not tolerate them and might also be patch test positive to them. Objectives: To

The relationship between remote work and employee well-being represents a longstanding debate in the management literature, and it has been rekindled by the remote work adoption forced by COVID-19 lockdowns. Previous literature has shown that remote working can enhance flexibility and work–life balance under certain conditions. However, it can also be a source of increased stress, burnout, and gre

Interest in psychedelics is increasing due to the potential for improved mental health and quality of life. However, adverse effects on mental health are still a concern. Personality traits have been suggested to both influence the psychedelic experience and mental health, and even be changed by psychedelic use. The present study describes for the first time a national sample of Swedish psychedeli

Background: Children whose parents have alcohol use problems are at an increased risk of several negative consequences, such as poor school performance, an earlier onset of substance use, and poor mental health. Many would benefit from support programs, but the figures reveal that only a small proportion is reached by existing support. Digital interventions can provide readily accessible support a

Magnetic one-dimensional structures are attractive nanomaterials due to the variety of potential applications they can provide. The fabrication of bimetallic 1D structures further expands the capabilities of such structures by tailoring the magnetic properties. Here, a single-step template-free method is presented for the fabrication of 1D FeCo alloy nanochains. In this approach, charged single-cr

This study evaluates the effectiveness of applying living shoreline techniques for protecting reed belts and eroding bluffs in an intra-coastal fairway with intense traffic by ocean-going vessels. The re-establishment of the reed belt can be explained by the dissipation of the hydrodynamic forces by the sill structure. There is a negative relationship between vegetation growth and wave exposure du