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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
OBJECTIVE: To investigate the impact of exercise therapy on molecular biomarkers related to cartilage and inflammation in people at risk of, or with established, knee osteoarthritis by conducting a systematic review of randomized controlled trials (RCTs).METHODS: Literature search up to September 2017 in five major databases with no restriction on publication year or language. Data were extracted
High or low ambient temperatures pose a risk factor for the worsening or onset of psychiatric disorders. The aim of this study was to investigate the association between ambient temperature and psychiatric emergency visits in an urban region in a temperate climate. The daily number of visits to a psychiatric emergency room (PEVs) at Sahlgrenska University Hospital, Gothenburg, Sweden and the daily
Sustainable groundwater resources management in arid areas requires early and immediate action to prevent further negative impacts on these resources. The persistent decline in the quantity and quality of groundwater in many countries has been leading to severe challenges in the present and future. In this research, the factors affecting groundwater salinization in a coastal aquifer were evaluated
Observations of sea level and precipitation in Malmö, Sweden in the southeastern part of the sound Öresund have been used to estimate the probabilities of local compound events of high sea level and large daily and hourly rains. There are observations of sea level and daily rains extending back to 1930. The observations of short-term rainfall are from 1980 and onwards. Most large rainfalls come in
OBJECTIVES: Increased vulnerability to stress has been suggested as a possible mechanism behind medically unexplained conditions such as sensitivity to electricity and common smells. This study examined whether subjective environmental annoyance among the general population is associated with increased physiological reactivity or subjective stress scores.METHODS: Four groups were studied (N=141):
The aim of this study was to establish the prevalence and prognostic implication of progressive supraventricular arrhythmias from frequent supraventricular ectopic complexes, isolated, in bi- or trigeminy, to supraventricular tachycardias with different characteristics. In the STROKESTOP I mass-screening study for atrial fibrillation (AF) in 75- and 76-year olds in Sweden, participants registered
1. In the rat hepatic artery, the SK(Ca) inhibitors UCL 1684 (300 nM) completely blocked, and scyllatoxin (1 μM) and d-tubocurarine (100 μM) partially inhibited EDHF relaxations when each of them was combined with charybdotoxin (300 nM). 2. The IK(Ca) inhibitors clotrimazole (3 μM) and 2-chlorophenyl-bisphenyl-methanol (3 μM) strongly depressed EDHF relaxations when each of them was combined with
Background: Brief episodes of atrial fibrillation (AF) may evolve into longer AF episodes increasing the chances of thrombus formation, stroke, and death. Classical methods for AF detection investigate rhythm irregularity or P-wave absence in the ECG, while deep learning approaches profit from the availability of annotated ECG databases to learn discriminatory features linked to different diagnosi
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
Title: HealthBook Sub title: Integrated End-User Device for Rural Health Workers in Low Resource Settings Author: Johan Larsson Supervisor: Goirgos Nikoleris, Machine Design Secondary supervisor: Rustam Nabiev, Karolinska University, MTA R&D Examiner: Robert Bjärnemo, Machine Design Introduction: This thesis is part of a project called ICT4MPOWER with the purpose to solve the problem with med
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
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
Background: Acute aortic syndrome (AAS) is a life-threatening condition reported as often misdiagnosed. Advancements in CT availability and diagnostic algorithms, including high-sensitivity troponin and D-dimer for acute coronary syndrome (ACS) and pulmonary embolism (PE), may reduce AAS misdiagnosis, but the impact remains unclear. This study evaluated the incidence, characteristics, and clinical
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
