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Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

Systemic lupus erythematosus (SLE, OMIM 152700) is a systemic autoimmune disease with a complex etiology. The mode of inheritance of the genetic risk beyond familial SLE cases is currently unknown. Additionally, the contribution of heterozygous variants in genes known to cause monogenic SLE is not fully understood. Whole-genome sequencing of DNA samples from 71 Swedish patients with SLE and their

Risk factors for spontaneous intracerebral hemorrhage

Background and Aims: Results from prior studies of risk factors for intracerebral hemorrhage (ICH) are inconsistent. Few studies have investigated risk factors measured before the event and separately for different locations of ICH. We investigated risk factors for incident ICH in the population-based Malmö Diet and Cancer cohort. Method: Baseline information, assessed by a questionnaire and in a

Multiple miscarriages in two sisters of Thai origin with the rare Pk phenotype caused by a novel nonsense mutation at the B3GALNT1 locus

OBJECTIVES: To determine the genetic background underlying the Pk phenotype in two Thai sisters suffering from multiple spontaneous abortions.BACKGROUND: The P antigen is carried by globoside, an abundant glycosphingolipid in the red blood cell (RBC) membrane. Inactivating mutations in the 3-β-N-acetylgalactosaminyltransferase gene (B3GALNT1) give rise to the rare Pk phenotype, which lack the P an

Ambient Temperature and Associations with Daily Visits to a Psychiatric Emergency Unit in Sweden

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

Single-shot extreme-ultraviolet wavefront measurements of high-order harmonics

We perform wavefront measurements of high-order harmonics using an extreme-ultraviolet (XUV) Hartmann sensor and study how their spatial properties vary with different generation parameters, such as pressure in the nonlinear medium, fundamental pulse energy and duration as well as beam size. In some conditions, excellent wavefront quality (up to 휆/11) was obtained. The high throughput of the inten

A stroke gene panel for whole-exome sequencing

Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations. We systematically searched the publically available database Online Mendelian Inheritance in Man, and validated the entries against orig

Finger-like carbon-based nanostructures produced by combustion of flour-based sticks (spaghetti)

Biomass is becoming particularly important as a starting material for advanced carbon structures. In this study, we found interesting nanostructures on the surface of burnt spaghetti using scanning electron microscopy, transmission electron microscopy (TEM), and energy dispersive X-ray spectroscopy (EDX) for analysis. The structures were elongated and finger-like, with evidence that the tubes have

Impact of language background and school factors on core language skills

Bilingual children are at a disadvantage when compared to monolingual norms in language assessment. Monolingual assessment fails to acknowledge the asymmetrically distributed linguistic competence of bilingual children, for example, different levels of mastery of family and school related concepts in the first and second languages, respectively. Consequently, monolingual assessment results in an o

Thin-Film Growth and Oxidation of Surfaces Under Relevant Pressure Conditions

The growth of oxides and thin films is important in a wide range of applications, including coating technology, production of solar cell materials, and formation of dielectric layers in the semiconductor industry. These growth processes necessitate the interaction of a solid surface with a gas/vapor or liquid phase. The chemical processes that take place during the interaction of the solid with th

School-based study found that physical activity and aerobic fitness predicted increases in total body fat and abdominal fat at a mean age of 9.8 years.

AIM: We assessed whether baseline measurements of physical activity, aerobic fitness, body fat and abdominal fat were predictors of changes in body fat measurements over a two-year period.METHODS: The study comprised of 204 children aged 9.8 ± 0.6 years with a normal body mass distribution, who recruited from four schools in middle-class areas of Malmö, Sweden, from 2001 to 2004. Peak oxygen uptak

Borderline Ovarian Tumors Share Familial Risks with Themselves and Invasive Cancers

Background: Borderline ovarian tumors (BOTs) are a subgroup of ovarian malignancies with low malignant potential. Very limited earlier data are available on familial clustering of BOTs with other cancers. We aim to explore histology-specific familial associations among BOTs and associations between BOTs and any invasive cancers.Methods: On the basis of 16.1 million individuals in the Swedish Famil

A longitudinal analysis of the relationships of physical activity and body fat with nerve growth factor and brain-derived neural factor in children

Background: Nerve growth factor (NGF) and brain-derived neural factor (BDNF) are important for brain function and detectable in the blood. This study explored the longitudinal associations of physical activity and body fat with serum NGF and BDNF in children. Methods: Two waves of measurements were performed 2 years apart in 8- to 11-year-old children, including physical activity using the ActiGra

Fluorescence microscopy of nanochannel-confined DNA

Stretching of DNA in nanoscale confinement allows for direct visualization of the genetic contents of the DNA on the single DNA molecule level. DNA stretched in nanoscale confinement also allows for studies of DNA-protein interactions and DNA polymer physics in confined environments. This chapter describes the basic steps to fabricate the nanostructures, to perform the experiments, and to analyze

CuInSe2 Quantum Dots Hybrid Hole Transfer Layer for Halide Perovskite Photodetectors

A novel hybrid hole transport layer (HTL) of CuInSe2 quantum dots (QDs)/poly(3,4-ethylenedioxythiophene):poly(styrenesulfonate) (PEDOT:PSS) was developed to enhance the performance of halide metal perovskite (MAPbI3)-based photodetectors. The introduction of CuInSe2 QDs not only improved the wettability of the PEDOT:PSS HTL for the growth of perovskite crystals but also facilitated the transportat

Unburned Hydro Carbon (HC) estimation using a self-tuned heat release method

An estimation model which uses the gross heat release data and the fuel energy to estimate the total amount of emissions and unburned Hydro Carbon (HC) is developed. Gross heat release data is calculated from a self-tuned heat release method which uses in-cylinder pressure data for computing the energy released during combustion. The method takes all heat and mass losses into account. The method e

Observation of Pore Growth and Self-Organization in Anodic Alumina by Time-Resolved X-ray Scattering

The anodic oxidation of metals such as aluminum and titanium can lead to the development of self-ordering pores. These pores make excellent templates for a range of nanoscale objects with many applications in nanoscience. Theoretical studies on pore formation have proposed several models for the establishment, growth, and ordering of these pores; however, experimental verification has mostly been

Self-organization of porous anodic alumina films studied in situ by grazing-incidence transmission small-angle X-ray scattering

Self-ordered porous anodic alumina (PAA) films are studied extensively due to a large number of possible applications in nanotechnology and low cost of production. Whereas empirical relationships between growth conditions and produced oxides have been established, fundamental aspects regarding pore formation and self-organization are still under debate. We present in situ structural studies of PAA