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Background: Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly
BACKGROUND: The available literature does not present a "gold standard" for post-operative pain treatment after total hip arthroplasty (THA). The aim of this prospective observational study was to explore and document post-operative pain treatment, including outcomes, in a large cohort of patients undergoing THA at five different Danish hospitals.METHODS: This prospective, multicentre, observation
In the last half of the twelfth century, canon law established the rule that a marriage could be declared invalid if the consent had been given through force or fear. This ruling was a natural consequence of the insistence on free consent as the only requirement for a valid marriage. It did, however, entail a number of both practical and theoretical problems. It could be difficult to prove force a
We present new in-situ measurements of particle rotations and energy dissipation during compression of 3D packings of stiff, frictional particles. Two confined, uniaxial compression tests with different degrees of lateral confinement are discussed. X-ray computed tomography and 3D X-ray diffraction were combined to provide inter-particle forces, slip and roll distances, twist angles, and energy di
Popular Abstract in Swedish SVENSK SAMMANFATTNING Den kliniska effekten av läkemedel som administreras till näsa eller lunga beror på läkemedlets egenskaper och på dess lokala deposition. Depositionsstudier är därför värdefulla för att kunna karakterisera olika beredningar. Depositionen påverkas av partiklarnas storlek och hastighet, genom att stora partiklar med hög hastighet ger upphov till en hThe local deposition, pharmacokinetics, and systemic activity of inhaled and intranasal glucocorticosteroids in different formulations and devices(ICSs) has been investigated. After nasal administration of the ICS budesonide (Bud), the systemic availability (F) was found to be significantly higher from an aqueous pump spray and from the powder inhaler Turbuhaler, than from a pressurized metered do
Risk for criminal behavior (CB), alcohol use disorder (AUD), and drug abuse (DA) are known to be familial. We know less about their transmission across three generations. We examined 844,109 probands born in Sweden 1980–1990, their parents, aunts/uncles, and grandparents for registration in population-based registers for CB, AUD, and DA. Mean tetrachoric relative-proband correlations (95% CIs) wer
We previously reported a strategy to redirect the retroviral host range by expressing single-chain antibodies (S. J. Russell, R. E. Hawkins, and G. Winter, Nucleic Acids Res. 21:1081-1085, 1993) or ligands (F.-L. Cosset, F. J Morling, Y. Takeuchi, R. A. Weiss, M. K. L. Collins, and S. J. Russell, J. Virol. 69:6314-6322, 1995) at the N terminus of Moloney murine leukemia virus (MoMLV) surface prote
Objective: To systematically review the efficacy of psychological, pharmacological, and combined treatments for binge eating disorder (BED). Method: Systematic search and meta-analysis. Results: We found 45 unique studies with low/medium risk of bias, and moderate support for the efficacy of cognitive behavior therapy (CBT) and CBT guided selfhelp (with moderate quality of evidence), and modest su
Due to water scarcity challenges around the world, it is essential to think about non-conventional water resources to address the increased demand in clean freshwater. Environmental and public health problems may result from insufficient provision of sanitation and wastewater disposal facilities. Because of this, wastewater treatment and recycling methods will be vital to provide sufficient freshw
Terrestrial carbon (C) cycling in high Arctic tundra depends on ecosystem responses toclimatic warming and concurrent changes in environmental conditions. There are very few studies toquantify long-term C budget in high Arctic tundra due to lack of sufficient measurements. Here based onwell-established multiyear measurements, we calibrated a process-oriented model (CoupModel) to quantifyvarious com
Background: The industrially important yeast Blastobotrys (Arxula) adeninivorans is an asexual hemiascomycete phylogenetically very distant from Saccharomyces cerevisiae. Its unusual metabolic flexibility allows it to use a wide range of carbon and nitrogen sources, while being thermotolerant, xerotolerant and osmotolerant. Results: The sequencing of strain LS3 revealed that the nuclear genome of
Background: Alzheimer's disease (AD) is the most prevalent cause of dementia with vascular dementia (VaD) being second alongside with mixed AD and VaD, according to some. For some time, it has been proposed that cardiovascular disease (CaVD), hypertension, and diabetes mellitus (DM), which are known risk factors for VaD, also are associated with and contribute to the development of AD. Objective:
This paper verified the macro-to-micro-scale transitional criterion BoRel 0.5 = 200 proposed by Li and Wu [W. Li, Z. Wu, A general criterion for evaporative heat transfer in micro/minichannels, International Journal of Heat and Mass Transfer 53 (2010) 1967-1976] because data points where BoRel 0.5 ≤ 200 and BoRel 0.5 > 200 show very different trends for the entire datab
Purpose: To model prediction of undetected glaucoma in a predominantly white population, based on intraocular pressure (IOP) and subject age. Methods: In 1992–1997, a population screening for glaucoma was performed at Malmö University Hospital where individuals between 55–79 years of age (n = 46 614) living in Malmö, were invited to a free eye health examination. Recently examined patients were no
The adsorption behaviour of three food proteins, a soy protein isolate, a sodium casein‐ate and a whey protein concentrate, at the air‐water interface has been studied by the drop volume method. The kinetics of surface tension decay were evaluated in terms of different rate‐determining steps at different ionic strengths and concentrations. This analysis indicates the following characteristics conc
Leonard Talmy’s influential binary motion event typology has encountered four main challenges: (a) additional language types; (b) extensive “type-internal” variation; (c) the role of other relevant form classes than verbs and “satellites;” and (d) alternative definitions of key semantic concepts like Motion, Path and Manner. After reviewing these issues, we show that the theory of Holistic Spatial
The housing environment is important for health and well-being among older people, and it is important to consider both physical and perceived aspects of housing. Psychometrically sound scales are necessary to assess perceived housing. This study evaluated the psychometric properties of two instruments that measure perceived aspects of housing among a younger cohort of older adults in Sweden. Meth
Among plants, gender dimorphism occurs in about 10% of all angiosperms and more than 50% of all moss taxa, with dwarf males (DM) found exclusively in some unisexual mosses. In this study, we explore the role of male dwarfism as a reproductive strategy in the widespread acrocarpous moss Dicranum scoparium, which has facultative male dwarfism, having both dwarf males (DMs) and normal-sized males (NM
