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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction

The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional ca

Gene × physical activity interactions in obesity: combined analysis of 111,421 individuals of European ancestry. : combined analysis of 111,421 individuals of European ancestry

Numerous obesity loci have been identified using genome-wide association studies. A UK study indicated that physical activity may attenuate the cumulative effect of 12 of these loci, but replication studies are lacking. Therefore, we tested whether the aggregate effect of these loci is diminished in adults of European ancestry reporting high levels of physical activity. Twelve obesity-susceptibili

Immunoreactive trypsin(Ogen) in the sera of children with recent-onset insulin-dependent diabetes and matched controls

To evaluate the exocrine pancreatic function at the time of diagnosis of insulin-dependent diabetes mellitus, we determined immunoreactive an-odal and cathodal trypsin(ogen) levels in sera from almost all children (n = 375) 0-14 years of age in Sweden in whom diabetes developed during 1 year, and in sex-, age-, and geographically matched control subjects (n = 312). The median level of anodal tryps

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries

Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for gene-alcohol consumption interaction for BP might identify additional BP loci and contribute to the understanding of alcohol-related BP regulation. We conducted

Multi-ethnic genome-wide association study for atrial fibrillation

Atrial fibrillation (AF) affects more than 33 million individuals worldwide1 and has a complex heritability2. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancest

Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung Cancer Cases and 15,971 Controls

BACKGROUND: A substantial proportion of cancer driver genes (CDG) are also cancer predisposition genes. However, the associations between genetic variants in lung CDGs and the susceptibility to lung cancer have rarely been investigated. METHODS: We selected expression-related single-nucleotide polymorphisms (eSNP) and nonsynonymous variants of lung CDGs, and tested their associations with lung can

A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings

Memory clinic patients are a heterogeneous population representing various aetiologies of pathological aging. It is unknown if divergent spatiotemporal progression patterns of brain atrophy, as previously described in Alzheimer's disease (AD) patients, are prevalent and clinically meaningful in this group of older adults. To uncover distinct atrophy subtypes, we applied the Subtype and Stage Infer

The TransEuro open-label trial of human fetal ventral mesencephalic transplantation in patients with moderate Parkinson's disease

Transplantation of human fetal ventral mesencephalic tissue in individuals with Parkinson's disease has yielded clinical benefits but also side effects, such as graft-induced dyskinesias. The open-label TransEuro trial ( NCT01898390 ) was designed to determine whether this approach could be further developed into a clinically useful treatment. Owing to poor availability of human fetal ventral mese

Radiation exposure of human populations in villages in Russia and Belarus affected by fallout from the Chernobyl reactor

Popular Abstract in Swedish Människan har alltid exponerats för joniserande strålning från radioaktiva ämnen i naturen och i sin egen kropp, samt från kosmisk strålning. Summan av exponeringen från dessa strålkällor blir ungefär 1 mSv per år. Till detta kommer exponering av lungor och luftvägar från radon och radondöttrar, särskilt i inomhusluft. Som jämförelse kan nämnas att en tandröntgen ger enA quarter of a century has elapsed since the catastrophe at the nuclear power plant in Chernobyl. The radioactive fallout affected all the European countries and most severely the three countries of Belarus, Russia and Ukraine. In the aftermath of this devastating event, the scientific knowledge on the various radiological impacts of such a large scale accident and means to remediate these impacts

Hemodilution with dextran: Effects on blood flow and thrombus formation. An experimental study in the rabbit

Popular Abstract in Swedish Populärvetenskaplig sammanfattning Plastikkirurgi och rekonstruktiv kirurgi syftar till att återskapa form och funktion i kroppens yttre vävnader, efter större defekter orsakade av t.ex. trafikolyckor, brännskador eller tumöroperationer. Sedan länge har man använt förflyttning av hud (hudtransplantat) och rotation eller förflyttning av större vävnadsområden med bibehålMicrovascular surgery enables free tissue flaps to cover tissue defects, e.g. after trauma and malignancies. Although major improvements in techniques have been made, problems with poor tissue circulation and thrombus formation still exist. The aim of this thesis was to investigate the effects of hemodilution on tissue blood flow and thrombus formation in an animal model. In isovolemic hemodilutio

Regulation of Tubuloglomerular Feedback by Macula densa-derived Nitric Oxide

Popular Abstract in Swedish Senare års forskning har klart och entydigt pekat på njurens viktiga roll i utvecklingen av högt blodtryck. Det är mycket sannolikt att det föreligger flera av varandra oberoende mekanismer som förklarar uppkomsten av högt blodtryck, men det är möjligt att flera av dessa, på en organfysiologisk, cellfysiologisk eller genetisk nivå kan ha gemensamma patofysiologiska länkStudies were conducted to investigate the role of macula densa (MD)-derived nitric oxide (NO) in regulation of the glomerular filtration (GFR) through the tubuloglomerular feedback (TGF) mechanism. Immunocytochemical localization of the neuronal isoform of NO synthase (NOS) in the kidney showed that this isoform was exclusively located in MD cells. Whole kidney clearance measurements of GFR and mi

On Managing Disruption Risks in the Supply Chain - the DRISC model

Popular Abstract in Swedish BAKGRUND Fokus riktas allt mer mot försörjningskedjan och allt mindre mot det enskilda företaget i takt med att konkurrens mellan enskilda företag ersätts av konkurrens mellan försörjningskedjor. Det är emellertid endast det enskilda företaget som kan fatta beslut och vidta åtgärder, men dessa beslut och åtgärder måste idag ske utifrån ett kedjeperspektiv. Med ökat foBackground Today's modern, industrialized society is based on globalization, specialization and mass-production. It is a society dependent upon highly integrated, continuously ongoing supply chain flows. Disruptions in those flows may cause devastating negative consequences, both for the individual company, for the supply chain, and for the society at large. Purpose and objectives The purpose o

Apoptosis induced by a human milk protein complex. Cellular and structural studies in tumour cells and bacteria.

Popular Abstract in Swedish Ett bröstmjölksprotein som dödar tumörceller Denna avhandling beskriver den tumörcell- och bakteriedödande effekten av ett proteinkomplex från bröstmjölk. Proteinkomplexet, en veckningsvariant av humant alfa-laktalbumin, inducerar apoptos (programmerad celldöd) i tumörceller och visar sig ha liknande effekter även mot bakterier. Amning förser inte bara barnet med optiHuman milk contains a vast array of bioactive molecules, with nutritional and protective functions. This thesis describes the effects of a human milk protein complex, MAL, on tumour cells and bacteria. During our studies on the anti-adhesive properties of human milk we observed that a milk fraction killed tumour cells. The morphology of the cells indicated apoptotic cell death and this was verifie

Born Near the Limit of Viability : Developmental Outcomes 2.5 Years Later

Popular Abstract in Swedish Bakgrund Neonatal intensivvård är under ständig utveckling, vilket medfört att allt mindre barn överlever efter att ha fötts prematurt. Ett tydligt mått på detta är att gränsen för livsduglighet (den gestationsålder då individen beräknas ha 50% chans att överleva) har skjutits bakåt till att under de senaste två decennierna ligga runt graviditetsvecka 24. Barn som föds Although advances in neonatal care have resulted in increased survival rates among extremely preterm infants (born < 28 gestational weeks), they still face substantial morbidity risks during the neonatal period. The question of possible later outcomes is a key issue faced by health care professionals working with these infants. Objectives The objective of the present thesis was to explore develo

Kinetics of Swelling Applied on Gelatine

Svällningsstudier med gelatin Av: Victor Norgren, Lunds tekniska högskola, 2015-06-15 Introduktion Gelatin är en genomskinlig proteinbaserad biopolymer, som tillverkas av kollagen. Kollagen är bindningsvävnaden som fäster musklerna till benen i kroppen. Genom att t.ex. koka benknotorna kan man utvinna kollagenet som blir gelatin när det tillåts sätta sig igen. Gelatintrådarna behåller den spiralThis report is about the measurements of swelling gelatine films of different thickness and at different temperature. The research has been mainly focused on finding a suitable model. Results have shown that the new Pseudo-Sigmoidal Model (PSM) is superior to previous quasi-second order models such as the Robinson and Ofner model. It has also been shown that gelatine’s swelling can be divided into

Aspects of skin cancer diagnosis in clinical practice

Popular Abstract in Swedish Förekomsten av hudcancer ökar i ljushyade befolkningsgrupper och hudcancer tillhör de cancergrupper som ökar mest i Sverige. De tre vanligaste formerna av hudcancer är basalcellscancer, skivepitelcancer och malignt melanom. Under 2013 utgjorde skivepitelcancer och malignt melanom ca 16 % av alla cancerfall som rapporterades in till Svenska Cancerregistret; över 6 000 faSkin cancer incidence is increasing in fair-skinned populations. The three most common skin cancers are basal cell carcinoma (BCC), squamous cell carcinoma (SCC) and malignant melanoma (MM). A correct diagnosis is crucial for an efficient and tailored treatment for the skin cancer patient. The purpose of this thesis was to evaluate different aspects of the preoperative diagnosis of skin cancer. Th

Natural enemies: Functional aspects of local management in agricultural landscapes

Popular Abstract in Swedish Intensifieringen av jordbruket sedan 1950-talet har lett till en ökad matproduktion men också orsakat miljöproblem så som förlust av biologisk mångfald, jorderosion, övergödning, ökade utsläpp av växthusgaser samt föroreningar av bekämpningsmedel. Det är därför nödvändigt att utveckla ett mer hållbart jordbruk samtidigt som vi upprätthåller den globala matförsörjningen Agricultural intensification has raised the global food production but also caused major concerns about environmental and health effects, including contamination by pesticides. Pesticide applications may induce toxicity not only on the target pest species but especially on non-target species. Hence we need to replace pesticides with management that promote organisms that suppress pest population.

EGF-like modules in blood coagulation proteins : Ca²+ binding, module interactions, structure and dynamics as studied by NMR spectroscopy

Popular Abstract in Swedish I avhandlingen presenteras resultaten från studier av EGF-moduler från blodkoagulationsproteiner. Dessa studier har utförts med högupplösande kärnmagnetisk resonansspektroskopi. Resultaten av studierna återges i denna populärvetenskapliga sammanfattning. Som bakgrund ges inledningsvis en introduktion till den grundläggande biologin och den teknik som använts i studiernaModules are independently folding protein domains defined on the gene level. The epidermal growth factor-like (EGF) modules are involved in protein-protein interactions and are found in numerous membrane proteins and extracellular proteins, including many proteins of the blood coagulation system. A subset of the EGF modules binds one Ca2+ with an affinity that is often influenced by the

The Enteric Nervous System, Plasticity and Survival

Popular Abstract in Swedish Bakgrund. Det enteriska nervsystemet (ENS) — mag-tarmkanalens eget nervsystem betraktades tidigare i stor utsträckning enbart som en passiv omkopplingscentral inom det parasympatiska nervsystemet. Forskningsresultat från det senaste decenniet har emellertid gett oss ett helt nytt synsätt. ENS ― ibland refererat till som ‘The second brain’ ― uppvisar trots tillhörighet tThe thesis deals with plasticity in terms of neurotransmitter expression and survival of neurons in the adult enteric nervous system (ENS). Several motility disorders have been suggested to originate in developmental defects, neurodegeneration, or insufficient innervation by the ENS. Normal distribution of the interstitial cells of Cajal (ICC), found in close relationship to enteric neurons, is al