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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
Background: Cardiac allograft vasculopathy (CAV) is characterized by diffuse thickening of the arterial intima. Statins reduce the incidence of CAV, but despite the use of statins, CAV remains one of the leading causes of long-term death after heart transplant. Inhibitors of proprotein convertase subtilisin-kexin type 9 (PCSK9) substantially reduce cholesterol levels but have not been tested in he
BACKGROUND: Increased urinary excretion of IgM and low-grade albuminuria are associated with increased risk of cardiovascular morbidity and mortality. The objective of this study was to investigate the association between urinary IgM, albuminuria, and vascular parameters reflecting arterial structure and function. METHODS: Subjects of the present study were from the Malmö Offspring study (MOS) coh
Identifying optimal inspection and repair strategies for offshore jacket structures is a challenging task. We present an approach, which is based on recent developments in the field of risk-based operation and maintenance planning at the structural system level. The approach utilizes heuristics to define inspection and repair strategies at the system level and to reduce the search space of possibl
The purpose of this study was to investigate variations in psychosocial well-being over time among young adults who participated in a support group after the death of a parent from cancer. Fifty-five young adults, aged 16–28 years, completed questionnaires that measured self-esteem, anxiety, depression, and life satisfaction at three time-points during the first year-and-one-half after the loss. R
Background: In Sweden, cobalt chloride 0.5% has been included in the baseline series since the mid-1980s. A recent study from Stockholm showed that cobalt chloride 1% petrolatum (pet.) was more suitable than 0.5%. Cobalt chloride at 1.0% has been patch tested for decades in many European countries and around the world. Objectives: To study the suitability of patch testing to cobalt 1.0% vs 0.5% an
The aethalometer model has shown to offer a fast, inexpensive and robust method for source apportionment. The method relies on aerosol light absorption attribution, mass balance of the total carbon and results in a fraction of unaccounted, residual carbon that has been associated to biogenic carbon due to its presumably non-light absorbing properties. This residual carbon and its relation to trace
BACKGROUND: The incidence of cutaneous malignant melanoma (CMM) and melanoma in situ (MIS) has been increasing during the last 50 years. Malignant melanoma (MM) is also the most common intraocular malignancy (IMM). Besides ultraviolet radiation, the cause of these tumours is largely unknown.OBJECTIVES: We designed a study to examine the effect of body mass index (BMI) and tobacco use on the risk f
Adherence to national and international clinical practice guidelines is suboptimal throughout Europe. The European Association of Urology Guidelines Office project “IMAGINE” (IMpact Assessment of Guidelines Implementation and Education) has been developed to measure baseline adherence to urological guideline recommendations across Europe and to identify issues that drive nonadherence.
The synthesis aims to lay the foundation for an improved understanding of the biophysical influence of land-use and land-cover changes on regional climate and terrestrial ecosystem change in Sweden, and to outline a roadmap for developing tools that support the formulation of policies and decision-making by policymakers, taking these potentially significant effects into account. The additional inf
Phlorotannins are bioactive polyphenols in brown macroalgae that make these algae interesting as healthy food. Specific phlorotannins are, however, seldom identified, and extracts from different species are often only analysed for total phenolic content (TPC). In this study, our focus was to identify phlorotannin molecules from Saccharina latissima and Ascophyllum nodosum (a species rich in these
Objective Knowledge of the relationship between psychosocial strain in the work environment and smoking during pregnancy is scarce. This study aimed to examine the association between psychosocial job strain and change in smoking behavior during pregnancy. Methods The cohort included 65 645 pregnancies from the Danish National Birth Cohort (1996–2002), where pregnant women were interviewed on job
This article presents a study aiming to explore and evaluate acoustic comfort in residential multistory buildings in Sweden. Acoustic data was associated to self-reported responses acquired by a survey: a questionnaire was setup researching the response to noise annoyance from multiple sources in a flat and the emotional reactions of tenants to the acoustic climate at home. An assessment of acoust
The MoCu CO dehydrogenase enzyme not only transforms CO into CO2 but it can also oxidise H2. Even if its hydrogenase activity has been known for decades, a debate is ongoing on the most plausible mode for the binding of H2 to the enzyme active site and the hydrogen oxidation mechanism. In the present work, we provide a new perspective on the MoCu-CODH hydrogenase activity by improving the in silic
Shared mobility options, such as car sharing, are often claimed to be more sustainable, although evidence at an individual or city level may contradict these claims. This study aims to improve understanding of the effects of car sharing on transport-related emissions at an individual and city level. This is done by quantifying the greenhouse gas (GHG) emissions of the travel habits of individuals
Fires in road tunnels constitute complex scenarios with interactions between the fire, tunnel users and safety measures. More and more methodologies for risk analysis quantify the consequences of these scenarios with complex models. Examples for complex models are the computational fluid dynamics model Fire Dynamics Simulator (FDS) and the microscopic evacuation model FDS+Evac. However, the high c
In centers with access to high-end ultrasound machines and expert sonologists, ultrasound is used to detect metastases in regional lymph nodes from melanoma, breast cancer and vulvar cancer. There is, as yet, no international consensus on ultrasound assessment of lymph nodes in any disease or medical condition. The lack of standardized ultrasound nomenclature to describe lymph nodes makes it diffi
Organisms that regularly encounter stressful environments are expected to use cues to develop an appropriate phenotype. Water fleas (Daphnia spp.) are exposed to toxic cyanobacteria during seasonal algal blooms, which reduce growth and reproductive investment. Because generation time is typically shorter than the exposure to cyanobacteria, maternal effects provide information about the local condi
