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Development of a polygenic risk score to improve screening for fracture risk : A genetic risk prediction study

BACKGROUND: Since screening programs identify only a small proportion of the population as eligible for an intervention, genomic prediction of heritable risk factors could decrease the number needing to be screened by removing individuals at low genetic risk. We therefore tested whether a polygenic risk score for heel quantitative ultrasound speed of sound (SOS)-a heritable risk factor for osteopo

Height, body mass index and prostate cancer risk and mortality by way of detection and cancer risk category

Obesity is a risk factor for advanced, but not localised, prostate cancer (PCa), and for poor prognosis. However, the detection of localised PCa through asymptomatic screening might influence these associations. We investigated height and body mass index (BMI) among 431 902 men in five Swedish cohorts in relation to PCa risk, according to cancer risk category and detection mode, and PCa-specific m

Estimated effect of secondary screening for hip dislocation

Objectives: To quantify the effect of secondary screening for hip dislocations. Design: Retrospective analysis of hospital files from participants in a prospectively collected nationwide registry. Setting: Child healthcare centres and orthopaedic departments in Sweden. Participants: Of 126 children with hip dislocation diagnosed later than 14 days age in the 2000-2009 birth cohort, 101 had complet

Reversal Treatment in Oral Anticoagulant-Related Intracerebral Hemorrhage—An Observational Study Based on the Swedish Stroke Register

Introduction: Intracerebral hemorrhage (ICH) is the most serious adverse effect of oral anticoagulant (OAC) treatment. The effect of OAC reversal therapy on outcome is uncertain. We compared 90-day survival and functional outcome in patients with OAC-ICH who received OAC reversal therapy with those who did not. Methods: Data from The Swedish Stroke Register (Riksstroke) for all registered cases of

Placental syncytiotrophoblast extracellular vesicles enter primary endothelial cells through clathrin-mediated endocytosis

Introduction: The aim was to investigate syncytiotrophoblast extracellular vesicle (STBEV) uptake mechanisms by primary endothelial cells, the effects on gene expression, cell activation as well as the effect of aspirin. Methods: The STBEVs were derived using the placental perfusion system, from normal or preeclamptic placentas. Endothelial uptake was analysed with flow cytometry. To elucidate upt

The influence of fish consumption on serum n-3 polyunsaturated fatty acid (PUFA) concentrations in women of childbearing age : a randomised controlled trial (the iFish Study)

PURPOSE: Long-chain polyunsaturated fatty acids (LCPUFA) can be synthesised endogenously from linoleic acid (LA) and α-linolenic acid (ALA) in a pathway involving the fatty acid desaturase (FADS) genes. Endogenous synthesis is inefficient; therefore, dietary intake of preformed LCPUFA from their richest source of fish is preferred. This study investigated the effect of fish consumption on PUFA con

Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents

BACKGROUND: Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia, caused by mutations in the APTX gene. The disease is characterized by early-onset cerebellar ataxia, oculomotor apraxia and severe axonal polyneuropathy. The aim of this study was to detect the disease-causing variants in two unrelated consanguineous Jordanian families with cerebellar ataxia u

A dose based approach for evaluation of inter-observer variations in target delineation

Background and purpose: Substantial inter-observer variations in target delineation have been presented previously. Target delineation for paediatric cases is difficult due to the small number of children, the variation in paediatric targets, the number of study protocols, and the individual patient's specific needs and demands. Uncertainties in target delineation might lead to under-dosage or ove

Knee and foot contracture occur earliest in children with cerebral palsy : a longitudinal analysis of 2,693 children

Background and purpose — Joint contracture is a common problem among children with cerebral palsy (CP). To prevent severe contracture and its effects on adjacent joints, it is crucial to identify children with a reduced range of motion (ROM) early. We examined whether significant hip, knee, or foot contracture occurs earliest in children with CP. Patients and methods — This was a longitudinal stud

School performance at age 16 in children exposed to antiepileptic drugs in utero-A population-based study.

Purpose: In order to evaluate long-term effects on neurodevelopment in children born to women with epilepsy during pregnancy we studied the children's school grades at age 16. Methods: We used the Patient Register, the Medical Birth Register, and a local study at South Hospital, Stockholm, to identify women with epilepsy in Sweden who had given birth between 1973 and 1986. The Swedish School Mark

Persistent malignant stem cells in del(5q) myelodysplasia in remission.

BACKGROUND: The in vivo clinical significance of malignant stem cells remains unclear. METHODS: Patients who have the 5q deletion (del[5q]) myelodysplastic syndrome (interstitial deletions involving the long arm of chromosome 5) have complete clinical and cytogenetic remissions in response to lenalidomide treatment, but they often have relapse. To determine whether the persistence of rare but dist

Quality of life in adolescents with asthma, during the transition period from child to adult.

Aim: The present investigation was designed to evaluate the health-related quality of life (HRQOL) of adolescents with asthma between the age of 16 and 21, when they are transferred from paediatric to adult care. Methods: In this prospective study, 156 teenagers (69 females) with asthma were screened employing spirometry, a histamine challenge, skin prick test for allergy and filled out the 'Livin

Simultaneous detection of ethanol, glucose and glycerol in wines using PQQ - dependent dehydrogenase based biosensors

Amperometric biosensors based on corresponding dehydrogenases have been developed for the determination of ethanol, glucose and glycerol. The enzymes have been integrated in redox hydrogels using an Os complex-modified non-conducting polymer employed as the electrochemical mediator and poly(ethyleneglycol)-diglycidyl ether (PEGDGE) as the cross-linking agent. The developed biosensors showed a sens

Analysis and modeling of field data on coastal morphological evolution over yearly and decadal time scales. Part 1: Background and linear techniques

A number of statistical techniques to analyze and model coastal morphological evolution over yearly and decadal (i.e., long-term) time scales based on field data are presented. After a general introduction to long-term morphological modeling, mainly linear methods are discussed, whereas nonlinear methods are treated in a companion paper (SOUTHGATE et al., 2001). The theoretical background to the m

beta-lactamase-producing nontypeable Haemophilus influenzae fails to protect Streptococcus pneumoniae from amoxicillin during experimental acute otitis media

Acute otitis media (AOM) is the most common reason for outpatient antimicrobial therapy. Mixed infections pose a potential problem, since the first-line drug used for the treatment of AOM, amoxicillin, can be neutralized by ß-lactamase-producing pathogens of the upper respiratory tract. To study the effects of a 5-day course of amoxicillin on a mixed middle ear infection, rats were challenged with

Modelling of sub-micron-sized particle deposition in a laminar wall jet - an investigation of the role of shielding

The deposition of polystyrene latex particles (0.23 mum in radius) onto a glass surface, covered with indium-tin oxide, has been studied using a wall-jet cell. The particle deposition could be followed in a single experiment at several positions, exposed to a wide range of wall shear rates. A deposition model including a shielding function was applied in order to describe the process. Three shield

Model simulation of ultrafine particles inside a road tunnel

A monodispersive aerosol dynamic model, coupled to a 3D hydrodynamical grid model, has been used to study the dynamics of ultrafine particles inside a road tunnel in Stockholm, Sweden. The model results were compared to measured data of particle number concentrations, traffic intensity and tunnel ventilation rate. Coagulation and depositional losses to the tunnel walls were shown to be important p

The Perfect Storm? Gluten and type 1 diabetes.

Popular Abstract in Swedish Vårt immunförsvar måste ständigt vara redo att försvara oss mot angrepp utifrån. Det måste kunna agera selektivt för att skydda oss mot främmande mikroorganismer som virus och bakterier. Om immunförsvaret istället missbedömer kroppens egna celler för att vara inkräktare och attackerar dessa, inträffar det vi kallar autoimmunitet. De autoimmuna sjukdomarna har ökat överaAim: The general objective of the present research was to study the association between type 1 diabetes and celiac disease, and the effects of dietary gluten on the risk of developing type 1 diabetes. More specific aims were as follows: to estimate the prevalence of celiac-disease-associated autoantibodies in children with type 1 diabetes; to study the connection between non-HLA genetic risk marke