| 11. |
- Purrington, Kristen S., et al.
(författare)
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Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
- 2014
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Ingår i: Carcinogenesis. - : Oxford University Press (OUP). - 0143-3334 .- 1460-2180. ; 35:5, s. 1012-1019
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Tidskriftsartikel (refereegranskat)abstract
- In a genome-wide scan, we show that 30 variants in 25 genomic regions are associated with risk of TN breast cancer. Women carrying many of the risk variants may have 4-fold increased risk relative to women with few variants.Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage genome-wide association study of TN breast cancer (stage 1: 1529 TN cases, 3399 controls; stage 2: 2148 cases, 1309 controls) to identify loci that influence TN breast cancer risk. Variants in the 19p13.1 and PTHLH loci showed genome-wide significant associations (P < 5 x 10(-) (8)) in stage 1 and 2 combined. Results also suggested a substantial enrichment of significantly associated variants among the single nucleotide polymorphisms (SNPs) analyzed in stage 2. Variants from 25 of 74 known breast cancer susceptibility loci were also associated with risk of TN breast cancer (P < 0.05). Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 x 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 x 10(-) (9)) were associated with TN breast cancer. A polygenic risk score (PRS) for TN breast cancer based on known breast cancer risk variants showed a 4-fold difference in risk between the highest and lowest PRS quintiles (OR = 4.03, 95% confidence interval 3.46-4.70, P = 4.8 x 10(-) (69)). This translates to an absolute risk for TN breast cancer ranging from 0.8% to 3.4%, suggesting that genetic variation may be used for TN breast cancer risk prediction.
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| 12. |
- Sator, Lea, et al.
(författare)
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Overdiagnosis of COPD in Subjects With Unobstructed Spirometry A BOLD Analysis
- 2019
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Ingår i: Chest. - : Elsevier BV. - 0012-3692 .- 1931-3543. ; 156:2, s. 277-288
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: There are several reports on underdiagnosis of COPD, while little is known about COPD overdiagnosis and overtreatment. We describe the overdiagnosis and the prevalence of spirometrically defined false positive COPD, as well as their relationship with overtreatment across 23 population samples in 20 countries participating in the BOLD Study between 2003 and 2012.METHODS: A false positive diagnosis of COPD was considered when participants reported a doctor's diagnosis of COPD, but postbronchodilator spirometry was unobstructed (FEV1/FVC > LLN). Additional analyses were performed using the fixed ratio criterion (FEV1/FVC < 0.7).RESULTS: Among 16,177 participants, 919 (5.7%) reported a previous medical diagnosis of COPD. Postbronchodilator spirometry was unobstructed in 569 subjects (61.9%): false positive COPD. A similar rate of overdiagnosis was seen when using the fixed ratio criterion (55.3%). In a subgroup analysis excluding participants who reported a diagnosis of "chronic bronchitis" or "emphysema" (n = 220), 37.7% had no airflow limitation. The site-specific prevalence of false positive COPD varied greatly, from 1.9% in low- to middle-income countries to 4.9% in high-income countries. In multivariate analysis, overdiagnosis was more common among women, and was associated with higher education; former and current smoking; the presence of wheeze, cough, and phlegm; and concomitant medical diagnosis of asthma or heart disease. Among the subjects with false positive COPD, 45.7% reported current use of respiratory medication. Excluding patients with reported asthma, 34.4% of those with normal spirometry still used a respiratory medication.CONCLUSIONS: False positive COPD is frequent. This might expose nonobstructed subjects to possible adverse effects of respiratory medication.
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| 13. |
- Studnicka, Michael, et al.
(författare)
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COPD : Should Diagnosis Match Physiology?
- 2020
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Ingår i: Chest. - : Elsevier BV. - 0012-3692 .- 1931-3543. ; 157:2, s. 473-475
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 14. |
- Batool, S S., et al.
(författare)
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Comparative Analysis of Ti, Ni, and Au Electrodes on Characteristics of TiO2 Nanofibers for Humidity Sensor Application
- 2013
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Ingår i: Journal of Materials Science & Technology. - : Elsevier. - 1005-0302. ; 29:5, s. 411-414
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Tidskriftsartikel (refereegranskat)abstract
- The effect of metal (Ti, Ni, and Au) electrodes on humidity sensing properties of electrospun TiO2 nanofibers was investigated in this work. The devices were fabricated by evaporating metal contacts on SiO2 layer thermally grown on silicon substrate. The separation between the electrodes was 90 mm for all sensors. The sensors were tested from 40% to 90% relative humidity (RH) by AC electrical characterization at room temperature. When sensors are switched between 40% and 90% RH, the corresponding response and recovery time are 3 s and 5 s for Ti-electrode sensor, 4 s and 7 s for Ni-electrode sensor, and 7 s and 13 s for Au-electrode sensor. The hysteresis was 3%, 5% and 15% for Ti-, Ni-, and Au-electrode sensor, respectively. The sensitivity of Ti, Ni, and Au-electrode sensors are 7.53 M Omega/% RH, 5.29 MU/% RH and 4.01 M Omega/% RH respectively at 100 Hz. Therefore Ti-electrode sensor is found to have linear response, fast response and recovery time and higher sensitivity as compared with those of Ni- and Au-electrode sensors. Comparison of humidity sensing properties of sensors with different electrode material may propose a compelling route for designing and optimizing humidity sensors.
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| 15. |
- Batool, S S., et al.
(författare)
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Investigation of dielectric relaxation behavior of electrospun titanium dioxide nanofibers using temperature dependent impedance spectroscopy
- 2013
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Ingår i: Ceramics International. - : Elsevier. - 0272-8842 .- 1873-3956. ; 39:2, s. 1775-1783
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Tidskriftsartikel (refereegranskat)abstract
- The electrospinning method has been utilized in the fabrication of titanium dioxide nanofibers (TNFs) with an average diameter of similar to 50 nm and length of 100 um. Effect of temperature on the dielectric relaxation behavior of the fabricated nanofibers have been studied using AC impedance spectroscopy. The morphological, structural and compositional aspects as well as the optical properties of the TNFs have been investigated by field emission scanning electron microscopy (FESEM), transmission electron microscopy (TEM), energy-dispersive x-ray spectroscopy (EDX) and ultraviolet visible (UV vis) absorption spectrum. The permittivity behavior of the device at the frequency below 10(2) Hz shows the relaxation contribution along with the electrode polarization. Dielectric loss peak in loss tangent also confirms the presence of relaxing dipoles in TNFs. The AC conductance as a function of frequency confirms the semiconducting nature of TNFs and obeys Jonschers power law except a small deviation in the low frequency region. DC conductivity increases with increase in temperature.
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| 16. |
- Batool, S S, et al.
(författare)
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Silica nanofibers based impedance type humidity detector prepared on glass substrate
- 2013
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Ingår i: Vacuum. - : Elsevier. - 0042-207X .- 1879-2715. ; 87, s. 1-6
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Tidskriftsartikel (refereegranskat)abstract
- Impedance type relative humidity detector is fabricated by depositing electrospun silica nanofibers on glass substrate. The silica nanofibers with an average diameter similar to 150 nm and length similar to 100 mu m were used. Thermogravimetric and differential scanning calorimetric analysis confirm that the accurate annealing temperature is 500 degrees C for complete removal of PVP. Humidity detecting devices were fabricated by defining titanium electrodes on top of the silica nanofibers. The performance of silica nanofibers humidity detectors was tested by AC electrical measurements at 40-90% relative humidity. The response and the recovery times were 5 s and 3 s, respectively, between 40% and 90% relative humidity. Contribution of dipoles, space charge polarization, relaxation of these dipoles and low frequency dispersion phenomenon were observed during impedance measurements.
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| 17. |
- Imran, Z, et al.
(författare)
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Fabrication of cadmium titanate nanofibers via electrospinning technique
- 2012
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Ingår i: Ceramics International. - : Elsevier. - 0272-8842 .- 1873-3956. ; 38:4, s. 3361-3365
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Tidskriftsartikel (refereegranskat)abstract
- Here we present an electrospinning technique for the fabrication of cadmium titanate/polyvinyl-pyrrolidone composite nanofibers. The composite nanofibers are then annealed at 600 degrees C to obtain ilmenite rhombohedral phase cadmium titanate nanofibers. The structure, composition, thermal stability and optical properties of as synthesized and annealed cadmium titanate nanofibers are characterized by X-ray diffraction, energy dispersive X-ray spectroscopy, scanning electron microscopy, transmission electron microscopy, thermogravimetric analysis, Fourier transform infrared spectroscopy and ultraviolet-visible spectroscopy. The average diameter and length of the nanofibers are found to be similar to 150-200 nm and similar to 100 mu m, respectively.
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| 18. |
- Madsen, C. L., et al.
(författare)
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The left atrial appendage closure by surgery-2 (LAACS-2) trial protocol rationale and design of a randomized multicenter trial investigating if left atrial appendage closure prevents stroke in patients undergoing open-heart surgery irrespective of preoperative atrial fibrillation status and stroke risk
- 2023
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Ingår i: American Heart Journal. - 0002-8703. ; 264, s. 133-142
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Tidskriftsartikel (refereegranskat)abstract
- Background Current recommendations regarding the use of surgical left atrial appendage (IAA) closure to prevent thromboembolisms lack high-level evidence. Patients undergoing open-heart surgery often have several cardiovascular risk factors and a high occurrence of postoperative atrial fibrillation (AF)-with a high recurrence rate-and are thus at a high risk of stroke. Therefore, we hypothesized that concomitant IAA closure during open-heart surgery will reduce mid-term risk of stroke independently of preoperative AF status and CHA 2 DS 2 -VASc score. Methods This protocol describes a randomized multicenter trial. Consecutive participants & GE;18 years scheduled for first-time planned open-heart surgery from cardiac surgery centers in Denmark, Spain, and Sweden are included. Both patients with a previous diagnosis of paroxysmal or chronic AF, as well as those without AF, are eligible to participate, irrespective of their CHA 2 DS 2 -VASc score. Patients already planned for ablation or IAA closure during surgery, with current endocarditis, or where follow-up is not possible are considered noneligible. Patients are stratified by site, surgery type, and preoperative or planned oral anticoagulation treatment. Subsequently, patients are randomized 1:1 to either concomitant IAA closure or standard care (ie, open IAA). The primary outcome is stroke, including transient ischemic attack, as assigned by 2 independent neurologists blinded to the treatment allocation. To recognize a 60% relative risk reduction of the primary outcome with LAA closure, 1,500 patients are randomized and followed for 2 years (significance level of 0.05 and power of 90%). Conclusions The LAACS-2 trial is likely to impact the LAA closure approach in most patients undergoing open-heart surgery. Trial registration: NCT03724318. (Am HeartJ 2023;264:133-142.)
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| 19. |
- Roberts, Jason D., et al.
(författare)
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Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy
- 2019
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Ingår i: Journal of Clinical Investigation. - : AMER SOC CLINICAL INVESTIGATION INC. - 0021-9738 .- 1558-8238. ; 129:8, s. 3171-3184
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Tidskriftsartikel (refereegranskat)abstract
- Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement and sudden cardiac death. Clinical management of ACM is largely palliative, owing to an absence of therapies that target its underlying pathophysiology, which stems partially from our limited insight into the condition. Following identification of deceased ACM probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on cardiac tissue analysis, an ANK2 mouse model was found to develop dramatic structural abnormalities reflective of human ACM, including biventricular dilation, reduced ejection fraction, cardiac fibrosis, and premature death. Desmosomal structure and function appeared preserved in diseased human and murine specimens in the presence of markedly abnormal beta-catenin expression and patterning, leading to identification of a previously unknown interaction between ankyrin-B and beta-catenin. A pharmacological activator of the WNT/beta-catenin pathway, SB-216763, successfully prevented and partially reversed the murine ACM phenotypes. Our findings introduce what we believe to be a new pathway for ACM, a role of ankyrin-B in cardiac structure and signaling, a molecular link between ankyrin-B and beta-catenin, and evidence for targeted activation of the WNT/beta-catenin pathway as a potential treatment for this disease.
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| 20. |
- Abrego, Nerea, et al.
(författare)
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Airborne DNA reveals predictable spatial and seasonal dynamics of fungi
- 2024
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 631, s. 835-842
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Tidskriftsartikel (refereegranskat)abstract
- Fungi are among the most diverse and ecologically important kingdoms in life. However, the distributional ranges of fungi remain largely unknown as do the ecological mechanisms that shape their distributions1,2. To provide an integrated view of the spatial and seasonal dynamics of fungi, we implemented a globally distributed standardized aerial sampling of fungal spores3. The vast majority of operational taxonomic units were detected within only one climatic zone, and the spatiotemporal patterns of species richness and community composition were mostly explained by annual mean air temperature. Tropical regions hosted the highest fungal diversity except for lichenized, ericoid mycorrhizal and ectomycorrhizal fungi, which reached their peak diversity in temperate regions. The sensitivity in climatic responses was associated with phylogenetic relatedness, suggesting that large-scale distributions of some fungal groups are partially constrained by their ancestral niche. There was a strong phylogenetic signal in seasonal sensitivity, suggesting that some groups of fungi have retained their ancestral trait of sporulating for only a short period. Overall, our results show that the hyperdiverse kingdom of fungi follows globally highly predictable spatial and temporal dynamics, with seasonality in both species richness and community composition increasing with latitude. Our study reports patterns resembling those described for other major groups of organisms, thus making a major contribution to the long-standing debate on whether organisms with a microbial lifestyle follow the global biodiversity paradigms known for macroorganisms4,5.
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