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Background: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. Results: We here present three novel patients with TMEM199-CDG. All three patients carried the same set of mutations (c.13-1
Introduction: Roux-en-Y gastric bypass (RYGB) causes more rapid and enhanced absorption of alcohol. RYGB patients have also been reported to use more inpatient care for alcohol-related disease than do patients after other bariatric procedures. The present study was designed to evaluate alcohol consumption level before and after gastric bypass using a sensitive and specific alcohol biomarker. Mater
Mine waste rock piles (WRPs) can contain sulfidic minerals whose interaction with oxygen and water can generate acid mine drainage (AMD). Thus, WRPs can be a long-term source of environmental pollution. Since the generation of AMD and its release into the environment is dependent on the net volume and bulk composition of waste rock, effective characterization of WRPs is necessary for successful re
Lignin, the world's most abundant biopolymer with high aromaticity, has huge potential as a renewable feedstock replacing petroleum for the production of chemicals, fuels and functional materials. The enhanced utilization of lignin would improve the economic viability of existing pulp and paper mills, as well as lignocellulosic biorefineries, where lignin is highly available, but mostly incinerate
Investigation of contaminant sources is indispensable for developing effective countermeasures against nitrate (NO3 −) pollution in groundwater. Known major nitrogen (N) sources are chemical fertilizers, livestock waste, and domestic wastewater. In general, scatter diagrams of δ18O and δ15N from NO3 − can be used to identify these pollution sources. However, this method can be difficult to use for
The impact of different drying techniques and storage conditions on the formation of carboxymethyl lysine (CML) as an advanced glycation end product (AGE) was investigated in various pilot-scale produced skim milk powders (SMP). CML, an indicator of advanced stages of the Maillard reaction, was analyzed by isotope dilution ESI-LC-MS/MS after drying and at intervals during storage for 200 days. The
The aim of this study was to identify molecules that trigger complement activation in rheumatic joints. C4d, the final cleavage product of C4 activation, is found in the diseased joint and can bind covalently to complement-activating molecules. By using a highly specific Ab against a cleavage neoepitope in C4d, several molecules that were specifically bound to C4d were identified from pooled synov
The scope for wastewater treatment plants (WWTPs) widens to consider not only water quality and cost, but also energy efficiency and greenhouse gas (GHG) emissions. The on-going research project, “Development and dynamic analysis of operational strategies for enhanced energy efficiency of wastewater treatment systems” aims to develop a tool for integrated evaluation of energy efficiency and greenh
Background and aim: Ischemia-reperfusion (I/R) in the intestines activates leukocytes and reactive oxygen species (ROS) and leads to lipid peroxidation and DNA damage. Rosehips have a high content of polyphenols and might prevent lipid peroxidation. Some Lactobacillus species are capable of degrading polyphenols to simpler and non-toxic constituents, sometimes with enhanced antioxidative capacity.
The incidence of cutaneous melanoma (CM) has risen sharply over the past 30 years, coinciding with the rapidly growing tattoo trend. In Sweden, 20% of the population is tattooed. Repeated reports of the presence of carcinogenic chemicals, such as polyaromatic hydrocarbons, aromatic amines and heavy metals in tattoo ink justifies the investigation of CM risk in relation to tattooing. We aimed to in
Background: To investigate the clinical and radiological presentation of anew ELOVL4mutation in a Swedish family.Methods:We compiled information on a Swedish family with 6 affectedmembers. Four of these had undergone neurological and radiological examinations. Two patients were independently analysed genetically bywhole exome or whole genome sequencing.Results: All examined affected family members
This overview of progress made in preventing post-traumatic osteoarthritis (PTOA) was delivered in a workshop at the Orthopaedics Research Society Annual Conference in 2019. As joint trauma is a major risk factor for OA, defining the molecular changes within the joint at the time of injury may enable the targeting of biological processes to prevent later disease. Animal models have been used to te
OBJECTIVE: To identify and characterize genetic loci associated with the risk of developing anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV).METHODS: Genetic association analyses were performed after Illumina sequencing of 1,853 genes and subsequent replication with genotyping of selected SNPs in a total cohort of 1110 Scandinavian cases with granulomatosis with polyangiit
The S-scheme mechanism in photocatalysis offers a promising approach to significantly enhance photoreductive activity. Here, using Bi dots as electronic media, and by changing the amount of added C@CuO on the surface of flower-shaped Bi2MoO6, a diverse range of CBM-x heterojunctions, were synthesized using a multi-step approach that incorporated solvothermal preparation and calcination methods. CB
The Loess Plateau is one of the most severely affected regions in China by soil erosion, where vegetation restoration is the principal strategy for soil and water conservation. Runoff and sediment reduction benefits (RRB and SRB) are key indicators used to evaluate the effectiveness of vegetation measures. While numerous observational and experimental studies have explored the effects of different
Azurocidin is a multifunctional endotoxin-binding serine protease homolog synthesized during the promyelocytic stage of neutrophil development. To characterize the biosynthesis and processing of azurocidin, cDNA encoding human preproazurocidin was stably transfected to the rat basophilic leukemia cell line RBL-1 and the murine myeloblast-like cell line 32D cl3; cell lines previously utilized to st
Externally bonded reinforcement (EBR) was used to increase load bearing capacity of light weight aggregate concrete (LWA) masonry walls subjected to eccentric axial compression. Ladder type masonry reinforcement, high strength steel wire strips and glass fiber mesh were used for strengthening of eleven, 2.4 m high, 0.5 m long and 0.1 m thick walls. The reinforcement was applied on the dry wall sur
In primary Sjögren's disease (pSjD), there is a well-documented increased risk of hematological malignancies, particularly lymphomas, whereas studies examining the incidence of solid tumors have often yielded conflicting results. Data concerning the incidence of breast and gynecological cancers are similarly inconsistent. The aim of this study was to further investigate the incidence of these so-c
Diffuse nitrate pollution remains a persistent threat to drinking-water resources, yet current predictive frameworks rarely capture how the spatial composition (land-cover fractions) and configuration (landscape fragmentation) of land systems jointly modulate leaching. This study presents a novel multiscale framework integrating hydro-climatic, soil and anthropogenic predictors with land-cover fra
Purpose: S. aureus bacteremia (SAB) is a common and severe infection with high mortality and morbidity. The clinical relevance of the finding of concurrent S. aureus bacteriuria (SABU) is debated. The goal of this study was to analyze whether a concurrent SABU is associated with complicated SAB, infective endocarditis (IE) and mortality. Methods: We conducted a retrospective cohort study, reviewin
