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BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential as

Emanating from theories on media and sport this study analyses two cross-country races from the 1980s and two from 2015. The study shows that the broadcasts have evolved into something that the spectators on the ground cannot, to the same degree, experience, including increased and more tangible use of graphics, a higher editing frequency, an increased amount of and more mobile cameras yielding mo

Greater central artery stiffness is observed in people with type 2 diabetes (T2DM). Elevated blood pressure (BP) and altered arterial wall structure/composition in T2DM are generally considered as main drivers for this alteration. However, because conventional arterial stiffness measures are BP-dependent and as such an influence of BP remains in a measure, it is unclear if greater central artery s

The concept of intentions is often taken for granted in the cognitive and neural sciences, and comparing outcomes with internal goals is seen as critical for our sense of agency. We created an experiment where participants decided which face they preferred, and we either created outcome errors by covertly switching the position of the chosen face or induced motor errors by deviating the mouse curs

OBJECTIVE: To explore associations of HLA class II genes (HLAII) with the progression of islet autoimmunity from asymptomatic to symptomatic type 1 diabetes (T1D).RESEARCH DESIGN AND METHODS: Next-generation targeted sequencing was used to genotype eight HLAII genes (DQA1, DQB1, DRB1, DRB3, DRB4, DRB5, DPA1, DPB1) in 1,216 participants from the Diabetes Prevention Trial-1 and Randomized Diabetes P

Neoliberalism, as a loosely defined set of political beliefs, calls for more individual freedom and autonomy, resulting in increased responsibility for each person to address major societal issues. ‘Individualization’ is the process by which responsibility for addressing major environmental issues such as climate change is placed on individuals. In this thesis I investigate whether individualizati

The site, Bällsta harbor, is a part of Ulvsunda industrial area, located on the east side of Bromma airport in Stockholm. Today, the housing shortage in Stockholm, the debate over the closure of Bromma Airport, and the plan to extend the tram line bring new opportunities to Bällsta harbor for redevelopment. This proposal aims to bring a diverse mix of uses, pedestrian-oriented and children-friend

IntroductionThere is a gap in knowledge regarding development of endometriosis and adenomyosis lesions visible at transvaginal ultrasound. The objectives were to evaluate if women with symptoms suggestive of endometriosis or adenomyosis but normal ultrasound examination develop endometriosis or adenomyosis lesions visible at ultrasound over time and if alterations of symptoms over time are associa

Citizens of the member states of the EU generally lack knowledge about the EU. This gives the media an important role in shaping public opinion. Media ascribing attributes to a subject of public discussion, is referred to as second level agenda setting. One recurring critique against the EU is its lack of democracy. In the scholarly debate, this phenomenon has been labelled the democratic deficit

Purpose: In one form of human autosomal recessive retinitis pigmentosa and in retinal degeneration (rd1) mouse, mutation occurs in the genes encoding ß subunit of rod photoreceptor cGMP phosphodiesterase. Therefore, rd1 mutant mouse is an appropriate model for human inherited retinal degeneration studies. Retinal explants are successfully cultured in serum free chemically defined R16 medium to eva

This paper argues that there is a norm in the publication of quantitative management research that accepted hypotheses are conceived of as good hypotheses. This has far-reaching implications for quantitative research in that, in the worst case scenario, this norm encourages commonsensical research questions and manipulation of data in order for an article to be published. Naturally, such behavior

The Major Intrinsic Proteins, MIPs, constitute a large, ancient superfamily of membrane proteins that are found in all kingdoms of life. Most MIPs facilitate passive diffusion of water across biological membranes (aquaporins), although many channels are also permeable for glycerol and other small uncharged solutes, (aquaglyceroporins). Other substrates reported for specific MIPs are anions, carbon

In this study, we investigate for the first time the efficiency of an environmentally sustainable extraction technique (pressurized liquid extraction, PIE) in conjunction with a fast separation technique (ultra-high performance liquid chromatography, UHPLC) coupled to a selective mass spectrometry (MS) detector (quadrupole time-of-flight, qTOF) to extract, separate and quantify fifteen intact-gluc

Background: Even before the onset of age-related diseases, obesity might be a contributing factor to the cumulative burden of oxidative stress and chronic inflammation throughout the life course. Obesity may therefore contribute to accelerated shortening of telomeres. Consequently, obese persons are more likely to have shorter telomeres, but the association between body mass index (BMI) and leukoc

Preterm birth carries a risk for adverse neurodevelopment. Cognitive dysfunctions, such as language disorders may manifest as atypical sound discrimination already in early infancy. As infant-directed singing has been shown to enhance language acquisition in infants, we examined whether parental singing during skin-to-skin care (kangaroo care) improves speech sound discrimination in preterm infant

Objective: To describe the clinical and ultrasound characteristics of three types of rare malignant ovarian germ cell tumor: embryonal carcinoma, non-gestational choriocarcinoma and malignant mixed germ cell tumor. Methods: This was a retrospective multicenter study. From the International Ovarian Tumor Analysis (IOTA) database, we identified patients with a histological diagnosis of ovarian embry

Objective: In the province of Brescia, Italy, historical neurotoxic metal exposure has occurred for several decades. This study aimed to explore the role of metal exposure and genetics on Parkinson's Disease (PD) and Parkinsonism. Methods: Cases were enrolled from four local clinics for movement disorders. Randomly selected controls non-affected by neurological or psychiatric conditions were enrol