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Rare coding variants and X-linked loci associated with age at menarche

More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are asso

Coeliac disease in children: a social epidemiological study in Sweden

Aim: Little is known on the possible existence of socioeconomic and geographical differences in early coeliac disease (CD) risk. Therefore, we investigated these aspects in children before age two. Methods: Linking the Swedish Medical Birth Registry to several other national registries, we identified all singletons born in Sweden from 1987 to 1993 (n = 792 401) and followed them until 2 years of a

Ungdomarnas beskrivningar – uppskattning, kritik och förväntningar

Syftet med denna studie är att analysera hur ungdomar som varit placerade på särskilda ungdomshem upplever, definierar och tolkar ett behandlingsprojekt, som involverade olika myndigheter, benämnt Motverka Våld och Gäng. Dessutom uppmärksammas hur de tolkade de i projektet anställda samordnarna. Den personliga aspekten i relationen mellan ungdomar och samordnare framställs som viktig och det verkThe purpose of this study is to analyse the way young people who were institutionalised in so called special youth-homes experienced, defined and iterpreted on the one hand the project “Motverka Våld och Gäng” (meaning: “Counteract Violence and Gangs”), and on the other hand the Coordinators employed in this project. There is a big variation in the perception of the coordinators. One common deno

CELL REPLACEMENT THERAPY FOR PARKINSON’S DISEASE: The importance of neuronal subtype, cell source and connectivity for functional recovery

Popular Abstract in Swedish Patienter som drabbats av Parkinsons sjukdom (PD) saknar förmågan att medvetet kontrollera sina rörelser. Livslång medicinering krävs, vilket lindrar symptomen och leder till att rörelsemönstret förbättras, men med varierad effektivitet. Trots att de läkemedel (t ex L-DOPA) som finns tillgängliga idag har fantastisk effekt, minskar deras effektivitet i takt med att sjukParkinson’s disease (PD) is a neurodegenerative disorder characterised by motor deficits such as slowness in movement, difficulty in initiating movement and tremor at rest. The cause of these motor symptoms is the selective loss of mesencephalic dopaminergic (mesDA) neurons, located in the substantia nigra (SN). These neurons project axons to the striatum where they release dopamine, a neurotransm

InAs nanowire MOSFET differential active mixer on Si-substrate

An active single balanced down-conversion mixer is implemented using InAs nanowire metal oxide semiconductor field effect transistors (MOSFETs) as both active devices and passive resistive loads. Circuits with 6 dB low-frequency voltage gain and a 3 dB bandwidth of 2 GHz are measured for a DC power consumption of 3.8 mW from a 1.5 V supply. The circuits are fabricated using contacts made with 12 μ

A culturally adapted lifestyle intervention addressing a Middle Eastern immigrant population at risk of diabetes, the MEDIM (impact of Migration and Ethnicity on Diabetes In Malmo): study protocol for a randomized controlled trial

Background: Studies have shown that lifestyle interventions are effective in preventing or delaying the onset of type 2 diabetes in high-risk patients. However, research on the effectiveness of lifestyle interventions in high-risk immigrant populations with different cultural and socioeconomic backgrounds is scarce. The aim was to design a culturally adapted lifestyle intervention for an immigrant

Single Balanced Down-Conversion Mixer Utilizing Indium Arsenide Nanowire MOSFETs

We have fabricated single balanced down-conversion mixer circuits using InAs nanowire MOSFETs as both active and passive devices. This is achieved by a combination of electron beam lithography and UV-lithography with a line width of 12 mu m. The circuits exhibit a low frequency voltage conversion gain of 6 dB, a -3 dB cutoff frequency of 2 GHz and a power consumption of 3.8 mW, while operating at

Meat and Heme Iron Intake and Risk of Squamous Cell Carcinoma of the Upper Aero-Digestive Tract in the European Prospective Investigation into Cancer and Nutrition (EPIC)

Background: Evidence from prospective studies on intake of meat and fish and risk of squamous cell carcinoma (SCC) of the upper aero-digestive tract (UADT) is scarce. We prospectively investigated the association of meat and fish intake with risk of SCC of the UADT and the possible mechanism via heme iron in the large multicenter European Prospective Investigation into Cancer and Nutrition (EPIC)

From circulating biomarkers to genomics and imaging in the prediction of cardiovascular events in the general population.

Abstract Cardiovascular disease (CVD) is the leading cause of death and disability worldwide. In the last decades numerous markers have been considered and investigated for the prediction of CV events, but only a few of them resulted in improved global risk assessment beyond traditional risk factors when incorporated into coronary evaluation scores. Recent genetic studies have pointed out a few bu

Effect of Common Genetic Variants Associated with Type 2 Diabetes and Glycemic Traits on α- and β-cell Function and Insulin Action in Man.

Although meta-analyses of genome-wide association studies have identified more than 60 single nucleotide polymorphisms (SNPs) associated with type 2 diabetes and/or glycemic traits, there is little information whether these variants also affect α-cell function. The aim of the present study was to evaluate the effects of glycemia-associated genetic loci on islet function in vivo and in vitro. We st

InAs nanowire MOSFETs in three-transistor configurations: single balanced RF down-conversion mixers.

Integration of III-V semiconductors on Si substrates allows for the realization of high-performance, low power III-V electronics on the Si-platform. In this work, we demonstrate the implementation of single balanced down-conversion mixer circuits, fabricated using vertically aligned InAs nanowire devices on Si. A thin, highly doped InAs buffer layer has been introduced to reduce the access resista

Identification of a Human Natural Killer Cell Lineage-Restricted Progenitor in Fetal and Adult Tissues.

Natural killer (NK) cells are cytotoxic lymphocytes and play a vital role in controlling viral infections and cancer. In contrast to B and T lymphopoiesis where cellular and regulatory pathways have been extensively characterized, the cellular stages of early human NK cell commitment remain poorly understood. Here we demonstrate that a Lin(-)CD34(+)CD38(+)CD123(-)CD45RA(+)CD7(+)CD10(+)CD127(-) pop

Increased C1q, C4 and C3 deposition on platelets in patients with systemic lupus erythematosus - a possible link to venous thrombosis?

Objective: Patients with systemic lupus erythematosus (SLE) have an increased risk of developing vascular diseases (VD) such as myocardial infarction, stroke and venous thrombosis, which can only partly be explained by traditional risk factors. The role of platelets in this process has not been extensively studied. Platelet activation supports complement binding to the platelet surface, and incre

The number and characteristics of prevalent vertebral fractures in elderly men are associated with low bone mass and osteoporosis.

We sought to determine whether specific characteristics of vertebral fractures in elderly men are associated with low bone mineral density (BMD) and osteoporosis. Mister osteoporosis Sweden is a population based cohort study involving 3014 men aged 69 to 81 years. Of these, 1427 had readable lateral radiographs of the thoracic and lumbar spine. Total body (TB) BMD (g/cm²) and total right hip (TH)

Home and health in the third age - methodological background and descriptive findings.

The understanding of the complex relationship between the home environment, well-being and daily functioning in the third age is currently weak. The aim of this paper is to present the methodological background of the Home and Health in the Third Age Study, and describe a sample of men and women in relation to their home and health situation.