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Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is al
Background: The relationship between coffee consumption and mortality in diverse European populations with variable coffee preparation methods is unclear. Objective: To examine whether coffee consumption is associated with all-cause and cause-specific mortality. Design: Prospective cohort study. Setting: 10 European countries. Participants: 521 330 persons enrolled in EPIC (European Prospective In
OBJECTIVES: To evaluate the systemic phenotype associated with the presence of isolated anti-La/SSB antibodies in a large international registry of patients with primary Sjögren's syndrome (pSS) fulfilling the 2002 classification criteria.METHODS: The Big Data Sjögren Project Consortium is an international, multicentre registry created in 2014. Baseline clinical information from leading centres on
BACKGROUND: Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly
Background and Aims: Plant-forward dietary patterns have been associated with cardiometabolic health benefits, which, in turn, have been related to cognitive performance with inconsistent findings. The objective of this study was to examine the relationship between baseline adherence to three a priori dietary patterns (Mediterranean, DASH, and MIND diets) with 2-year changes in cognitive performan
The molecular landscape in non-muscle-invasive bladder cancer (NMIBC) is characterized by large biological heterogeneity with variable clinical outcomes. Here, we perform an integrative multi-omics analysis of patients diagnosed with NMIBC (n = 834). Transcriptomic analysis identifies four classes (1, 2a, 2b and 3) reflecting tumor biology and disease aggressiveness. Both transcriptome-based subty
Objectives: Real-world evidence is needed to inform treatment strategies for patients with PsA and axial SpA (axSpA) who have non-musculoskeletal manifestations (NMMs), various risk factors and comorbidities. International collaboration is required to ensure statistical power and to enhance generalizability. The first step forward is identifying which data are currently being collected. Across 17
Anthropogenic biodiversity decline threatens the functioning of ecosystems and the many benefits they provide to humanity 1. As well as causing species losses in directly affected locations, human influence might also reduce biodiversity in relatively unmodified vegetation if far-reaching anthropogenic effects trigger local extinctions and hinder recolonization. Here we show that local plant diver
Idiopathic pulmonary fibrosis (IPF) is a progressive and lethal disease characterized by excessive extracellular matrix deposition. Current IPF therapies slow disease progression but do not stop or reverse it. The (myo)fibroblasts are thought to be the main cellular contributors to excessive extracellular matrix production in IPF. Here we show that fibrotic alveolar type II cells regulate producti
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5).
Popular Abstract in Swedish För ett halvsekel sedan publicerade den amerikanske barnläkaren Wessel en numera klassisk beskrivning av det skrikande kolikbarnet och dess omgivning, bekymrade och pressade föräldrar. Orsakerna till spädbarnskolik är fortfarande till stor del okända, och åsikterna om förebyggande åtgärder och behandling varierar avsevärt. Prognosen brukar beskrivas som god, men mycket AIM: To study infantile colic in terms of occurrence, risk factors in pregnancy, distress patterns, caregiving practices, and outcome. STUDY DESIGNS: Paper I: Population study, 376 mothers and newborn infants, diaries or telephone interviews. Paper II: 116 colic and 119 control cases, telephone interviews, and diaries. Papers III-IV: Population study, 1099 mother-infant dyads, pregnancy inquiries
Popular Abstract in Swedish Medborgarlön - ett statligt bidrag som ges till alla medborgare utan inkomst- eller behovsprövning - har varit flitigt diskuterat inom akademiska kretsar under senare år. Bland argumenten för medborgarlön återfinns att det antas ge ett erkännande åt obetalt arbete inom hemmet, en mer jämlik fördelning av lönearbete genom att uppmuntra deltidsarbete, leda till minskad ofBasic income - an income granted by the government to each full member of society without means tests or work requirements - has been a widely discussed subject among academics in recent years. However, basic income has not, in most cases, reached the formal political agenda. The main aim of this book is to discuss why this is the case, with Sweden as the focus of the discussion. The aim is also t
Popular Abstract in Swedish Fåglars flygförmåga I alla tider har vi fascinerats av fåglars förmåga att flyga, och många försök att förstå och efterlikna dem har gjorts. Kanske den förste som på allvar intresserade sig för mekanismerna bakom fåglars flykt var Leonardo da Vinci som runt år 1500 funderade på hur fåglar alstrar lyftkraft. Leonardo skissade också på 100-tals maskiner som var tänkta atI share my fascination of bird flight with many others, and here I summarise my thesis on the subject. This thesis emphasises the mechanics of bird flight by focusing on flight mechanics, wake dynamics and flight performance. Gliding flight performance of a jackdaw was measured in a wind tunnel and I conclude that the current model for predicting optimum wingspan as a function of forward gliding
Popular Abstract in Swedish Från 1980-talet har etiken diskuterats flitigt i samhället. Det har i samband med detta utvecklats etiska kommittéer. Etiska kommittéer är en typ av organ inom företag, branscher, professioner och andra organisationer som handhar etiska frågor och problem. De etiska kommittéerna fungerar rådgivande i etiska frågor, de kan fastställa etiska regler för en organisation ochThis thesis analyses the development of ethics committees from a sociology of law perspective and a social steerage perspective ("social control"). The main question is: Why are ethics committees established? Institutionalised ethics committee is a rather new phenomenon, which has become widely spread in the last 20 years. The study points out the public ethical debate since the 1980s as a major e
To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom similar to 50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with similar to 2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases and 70,298 controls. First, meta-analysis of 25 studies compris
Microsoft Word - xjobb5116.doc Master’s Dissertation Structural Mechanics CHRISTIAN WESTERBERG FINITE ELEMENT SIMULATION OF CRASH TESTING OF SELF-PIERCING RIVET JOINTS, PEEL SPECIMEN Detta är en tom sida! Copyright © 2002 by Structural Mechanics, LTH, and Institute for Metals Research, Sweden. Printed by KFS I Lund AB, Lund, Sweden, September, 2002. For information, address: Division of Structural
https://www.byggmek.lth.se/fileadmin/byggnadsmekanik/publications/tvsm5000/web5116.pdf - 2026-05-11
Är din utbildning lönsam? Är din utbildning lönsam? – Livslöner för 35 högskoleutbildningar 2024 Är din utbildning lönsam? Livslöner för 35 högskoleutbildningar Gilbert Fontana och Linda Simonsen © Gilbert Fontana, Linda Simonsen och Saco 2024 www.saco.se 3 Sammanfattning I denna rapport beräknas livslöner för 35 högskoleutbildningar. Livslönerna inkluderar olika typer av arbetsrelaterade inkomste
https://www.saco.se/contentassets/4bbffce65770476c8289b21cfca095c9/2024-saco-livslonerapport.pdf - 2026-05-11
Master’s Dissertation Structural Mechanics Report TV SM -5229 TO M A S D A H L O PTIM ER IN G A V B Ö JA R M ER IN G G EN O M FEM -A N A LY S O C H STR U T-A N D -TIE M O D ELLER IN G En effektiviserin g av arm erin g sp ro cessen TOMAS DAHL OPTIMERING AV BÖJARMERING GENOM FEM-ANALYS OCH STRUT-AND-TIE MODELLERING En effektivisering av armeringsprocessen 5229HO.indd 15229HO.indd 1 2018-04-07 11:52:
https://www.byggmek.lth.se/fileadmin/byggnadsmekanik/publications/tvsm5000/web5229.pdf - 2026-05-11
2026 Publikation 184-185 Publikation 185Svensk sammanfattning: Finns det ärftliga varianter som ökar risken för autoimmun (typ 1) diabetes samtidigt som risken för celiaki minskar?Originalartikel: Polymorphisms in intron 1 of HLA-DRA differentially associate with type 1 diabetes and celiac disease and implicate involvement of complement system genes C4A and C4B. (PDF, 4.03 MB, nytt fönster)Publika
https://www.teddy.lu.se/resultat-fran-teddy/alla-forskningsartiklar/alla-forskningsartiklar-i-nummerordning - 2026-05-13
The Art of Writing and Speaking 2011 S ta t s ve tenskap l i ga Fö ren ingen 2011 Lund Un i ve r s i t y the art of writing & speaking 1 Preface The original version of this publication was produced in the academic year 1995/96 through a fruitful cooperation between senior lecturer Gertrud Pettersson of the Department of Scandinavian Languages and tutors at the Department of Political Science in L
https://www.graduateschool.sam.lu.se/sites/graduateschool.sam.lu.se/files/art-of-writing-speaking-2011.pdf - 2026-05-14
