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Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6-congenital disorders of glycosylation (COG6-CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive microcephaly, joint laxity, hyperkeratosis, frequent infections, and enamel hypoplasia. In one family, compoun
Context. Tidal orbital decay is suspected to occur for hot Jupiters in particular, with the only observationally confirmed case of this being WASP-12 b. By examining this effect, information on the properties of the host star can be obtained using the so-called stellar modified tidal quality factor Q′∗, which describes the efficiency with which the kinetic energy of the planet is dissipated within
This article reports on the inclusive production cross section of several quarkonium states, J / ψ, ψ(2 S) , Υ (1 S) , Υ (2 S) , and Υ (3 S) , measured with the ALICE detector at the LHC, in pp collisions at s=5.02 TeV. The analysis is performed in the dimuon decay channel at forward rapidity (2.5 < y< 4). The integrated cross sections and transverse-momentum (pT) and rapidity (y) differential cro
This chapter explores public relations’ disciplinary troubles in gaining recognition and explores the academic discipline’s future role in an increasingly postdisciplinary world of higher education. We argue that public relations, like many other applied communication disciplines, did not evolve as an intellectually coherent project but as an institutionally and administratively defined “de facto
Purpose: Despite the significant role of varicocele in the pathogenesis of male infertility, the impact of varicocele repair (VR) on conventional semen parameters remains controversial. Only a few systematic reviews and meta-analyses (SRMAs) have evaluated the impact of VR on sperm concentration, total motility, and progressive motility, mostly using a before-after analytic approach. No SRMA to da
A non-negligible part of the biological reactions in the activated sludge process for treatment of wastewater takes place in secondary settling tanks (SST) that follow biological reactors. It is therefore of interest to develop models of so-called reactive settling that describe the spatial variability of reaction rates caused by the variation of local concentration of biomass due to hindered sett
Structural changes in Ti1-xAlxN coated tool inserts used for turning in 316L stainless steel were investigated by XANES, EXAFS, EDS, and STEM. For coarse-grained fcc-structured Ti1-xAlxN coatings, with 0 ≤ x ≤ 0.62, the XANES spectrum changes with Al-content. XANES Ti 1s line-scans across the rake face of the worn samples reveals that TiN-enriched domains have formed during turning in Ti0.47Al0.53
Bacteriophages encode a wide variety of cell wall disrupting enzymes that aid the viral escape in the final stages of infection. These lytic enzymes have accumulated notable interest due to their potential as novel antibacterials for infection treatment caused by multiple-drug resistant bacteria. Here, the detailed functional and structural characterization of Thermus parvatiensis prophage pe
In ultrafast spectroscopy, the temporal resolution of time-resolved experiments depends on the duration of the pump and probe pulses, and on the control and characterization of their relative synchronization. Free-electron lasers operating in the extreme ultraviolet and X-ray spectral regions deliver pulses with femtosecond and attosecond duration in a broad array of pump–probe configurations to s
The 19th World Rural Health Conference, hosted in rural Ireland and the University of Limerick, with over 650 participants coming from 40 countries and an additional 1600 engaging online, has carefully considered how best rural communities can be empowered to improve their own health and the health of those around them. The conference also considered the role of national health systems and all sta
Background: Adaptations by arthropod pests to host plant defenses of crops determine their impacts on agricultural production. The larval host range of western corn rootworm, Diabrotica virgifera virgifera (Coleoptera: Chrysomelidae), is restricted to maize and a few grasses. Resistance of D. v. virgifera to crop rotation practices and multiple insecticides contributes to its status as the most da
Background: Children with long-gap esophageal atresia (LGEA) face a high risk of digestive and respiratory morbidity, but their mental health outcomes have not been investigated. We aimed to identify the prevalence of mental health problems in children with LGEA, associated factors and health-related quality of life (HRQOL). Methods: Twenty-six children with LGEA aged 3–17 were recruited nationwid
Ukraine’s recent success on the battlefield has encouraged discussion on potential changes to Russia’s political setup. While a new leader would be needed, more fundamental change would be required if the country is to embark on a path towards democracy. The key issue lies in Moscow’s relations with its periphery, an exploitative relationship that has persisted for centuries.The war in Ukraine has
Modern populism has developed in Scandinavia since at least the 1970s, first in Norway and Denmark but more recently also in Sweden. Populist political parties have been well-established in Scandinavian Parliaments for many years. However, from a labour law perspective, the populist impact, if any, has been limited and populist discourse has primarily focused on issues such as migration and the EuModern populism has developed in Scandinavia since at least the 1970s, first in Norway and Denmark but more recently also in Sweden. Populist political parties have been well-established in Scandinavian Parliaments for many years. However, from a labour law perspective, the populist impact, if any, has been limited and populist discourse has primarily focused on issues such as migration and the Eu
In the past two decades brain connectomics has evolved into a major concept in neuroscience. However, the current perspective on brain connectivity and how it underpins brain function relies mainly on the hemodynamic signal of functional magnetic resonance imaging (MRI). Molecular imaging provides unique information inaccessible to MRI-based and electrophysiological techniques. Thus, positron emis
Introduction: Long-term outcomes of cloacal malformations remain unclear. We evaluated postoperative bowel control, bladder function and quality of life in patients under 18 years of age with cloaca. Materials and methods: This was a multi-center cross-sectional observational study accomplished by the Nordic Pediatric Surgery Research Consortium. Patients with a cloacal malformation, 4–17 years of
With the open and big data movement in full swing, data sharing becomes more ubiquitous and more often crosses sectoral boundaries. The promise of data to help address societal issues and foster innovation requires public organizations to work together with businesses and researchers. Data collaboratives whereby actors collaborate to share and use data for public good gain increasing interest. Mos
We present an interactive online workshop for K-12 students, which aims in familiarizing students with core concepts of AI. The workshop consists of a variety of resources, inspired by inquiry-based learning techniques, of which we present in detail one module, centered around a browser-based game called “Gradient Descent”. This module introduces the mathematical concepts behind a gradient descent
