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Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions
The electrostatic interactions between cationic poly(amidoamine) (PAMAM) dendrimers of different generations, G3, G4, and G6, with net anionic model biomembranes have been predicted by adopting an analytical model based on two dissimilar soft spheres. The influence of bilayer surface charge density, ionic strength, pH, temperature, membrane softness (modeled as changes in bilayer thickness), and d
Picosecond ultrasonics is a powerful tool for nanoscale metrology, giving access to dimensions and mechanical, thermal, and optical properties of nanomaterials. By monitoring the temporal evolution of the interaction of light with coherent acoustic phonons, also known as Brillouin oscillations, phonon lifetime and optical absorption can be measured. However, the extraction of these quantities can
BACKGROUND: Increasing number of individuals will have first-degree relatives (FDRs) diagnosed with colorectal cancer (CRC), as a second primary malignancy (CRCa-2) after a non-CRC cancer. We aimed to estimate whether and to what extent a family history of CRCa-2 is associated with an increased CRC risk.METHODS: In this Swedish nationwide cohort study, rate ratio (RR) and cumulative incidence of C
An individual's phenotype can be altered by direct contact with its present environment but also by environmental features experienced by previous generations, that is, parental or grandparental effects. However, the strength and direction of these transgenerational effects may be highly variable according to the ecological conditions experienced by ancestral generations. Here, we performed a reci
Based on a commission by one of the Swedish Research Council, which has high ambitions to strengthen the collaboration between academia and society, this study aimed to reveal how researchers describe the collaboration with partners outside the university in research proposals. Globally, collaboration is advocated to bridge research-practice gaps and address complex societal challenges. This study
The first European Vasculitis Society (EUVAS) meeting report was published in 2017. Herein, we report on developments in the past 5 years which were greatly influenced by the pandemic. The adaptability to engage virtually, at this critical time in society, embodies the importance of networks and underscores the role of global collaborations. We outline state-of-the-art webinar topics, updates on d
Background: Surgical extraction of testicular spermatozoa is needed in men with nonobstructive azoospermia (NOA) who wish to become biological fathers. Based on available uncontrolled studies with unspecific patient selection, microdissection testicular sperm extraction (mTESE), having a sperm retrieval rate (SRR) of 50%, is considered the most efficient sperm retrieval procedure. However, no rand
The hot-wall metal-organic chemical vapor deposition (MOCVD), previously shown to enable superior III-nitride material quality and high performance devices, has been explored for Mg doping of GaN. We have investigated the Mg incorporation in a wide doping range (2.45 × 10 18 cm-3 up to 1.10 × 10 20 cm-3) and demonstrate GaN:Mg with low background impurity concentrations under optimized growth cond
Objectives: Reproductive history of women is of importance to estimate cardiovascular disease (CVD) risk. One aspect of that history is the reproductive life span (RLS), the period between onset of menarche and menopause. Previous studies have indicated an increased risk associated with shorter RLS, but this has never previously been tested in Scandinavian women. Our aim was to investigate such as
The impact of interface defect states on the recombination and transport properties of charges in asymmetric modulation-doped InGaAs/GaAs quantum wells(QWs) is investigated. Three sets of high-mobility InGaAs QW structures are systematically designed and grown by the metal-organic vapor phase epitaxy technique to probe the effect of carrier localization on the electro-optical processes. In these s
Background This study aims to describe associations of obesity and CKD in a Swedish urban population. The impact of fat mass, from bioimpedance analysis, on eGFR based on cystatin C and/or creatinine is studied. Methods 5049 participants from Malmö Diet and Cancer Study the cardiovascular arm (MDCS-CV) with available body mass composition (single frequency bioimpedance analysis) and cystatin C mea
Herein, metal–organic chemical vapor deposition (MOCVD) of GaN layers doped with Mg atoms to the recognized optimum level of [Mg] ≈2 × 1019 cm−3 is performed. In a sequence of MOCVD runs, operational conditions, including temperature and flow rate of precursors, are maintained except for intentionally larger flows of hydrogen carrier gas fed into the reactor. By employing the largest hydrogen flow
Marriage is protective of survival and contributes to healthy ageing, whereas both singlehood and widowhood are related to increased mortality and poor health. The long-term change in the mortality differentials by marital status, and its interaction with gender and social class, has not been systematically addressed in the literature. In this study, we explore the marriage premium for survival a
Globally, the lifespan of populations increases but the healthspan is lagging behind. Previous research showed that survival into extreme ages (longevity) clusters in families as illustrated by the increasing lifespan of study participants with each additional long-lived family member. Here we investigate whether the healthspan in such families follows a similar quantitative pattern using three-ge
A century after the Spanish Flu, the COVID-19 pandemic has brought renewed attention to socioeconomic and occupational differences in mortality in the earlier pandemic. The magnitude of these differences and the pathways between occupation and increased mortality remain unclear, however. In this paper, we explore the relation between occupational characteristics and excess mortality among men duri
We use principal component analysis to study the hydrodynamic attractor in Yang-Mills kinetic theory undergoing the Bjorken expansion with color glass condensate initial conditions. The late-time hydrodynamic attractor is characterized by a single principal component determining the overall energy scale. How it is reached is governed by the disappearance of single subleading principal component ch
Balanced structural variants, such as reciprocal translocations, are sometimes hard to detect with sequencing, especially when the breakpoints are located in repetitive or insufficiently mapped regions of the genome. In such cases, long-range information is required to resolve the rearrangement, identify disrupted genes and, in symptomatic carriers, pinpoint the disease-causing mechanisms. Here, w
Objectives: To investigate the association of exposure to per- and polyfluoroalkyl substances (PFAS) during early pregnancy with markers of the maternal thyroid system. Methods: Serum concentrations of seven PFAS as well as thyroid stimulating hormone (TSH), free and total thyroxine (FT4 and TT4), free and total triiodothyronine (FT3 and TT3) were measured in pregnant women in early pregnancy in t
