| 1. |
- Sliz, E., et al.
(författare)
-
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
-
Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Guintivano, Jerry, et al.
(författare)
-
Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression
- 2023
-
Ingår i: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 180:12, s. 884-895
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Postpartum depression (PPD) is a common subtype of major depressive disorder (MDD) that is more heritable, yet is understudied in psychiatric genetics. The authors conducted meta-analyses of genome-wide association studies (GWASs) to investigate the genetic architecture of PPD.METHOD: Meta-analyses were conducted on 18 cohorts of European ancestry (17,339 PPD cases and 53,426 controls), one cohort of East Asian ancestry (975 cases and 3,780 controls), and one cohort of African ancestry (456 cases and 1,255 controls), totaling 18,770 PPD cases and 58,461 controls. Post-GWAS analyses included 1) single-nucleotide polymorphism (SNP)-based heritability ([Formula: see text]), 2) genetic correlations between PPD and other phenotypes, and 3) enrichment of the PPD GWAS findings in 27 human tissues and 265 cell types from the mouse central and peripheral nervous system.RESULTS: No SNP achieved genome-wide significance in the European or the trans-ancestry meta-analyses. The [Formula: see text] of PPD was 0.14 (SE=0.02). Significant genetic correlations were estimated for PPD with MDD, bipolar disorder, anxiety disorders, posttraumatic stress disorder, insomnia, age at menarche, and polycystic ovary syndrome. Cell-type enrichment analyses implicate inhibitory neurons in the thalamus and cholinergic neurons within septal nuclei of the hypothalamus, a pattern that differs from MDD.CONCLUSIONS: While more samples are needed to reach genome-wide levels of significance, the results presented confirm PPD as a polygenic and heritable phenotype. There is also evidence that despite a high correlation with MDD, PPD may have unique genetic components. Cell enrichment results suggest GABAergic neurons, which converge on a common mechanism with the only medication approved by the U.S. Food and Drug Administration for PPD (brexanolone).
|
|
| 11. |
- Kuhn, HG, et al.
(författare)
-
Authors' reply
- 2013
-
Ingår i: The British journal of psychiatry : the journal of mental science. - : Royal College of Psychiatrists. - 1472-1465. ; 74:7
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 12. |
- Norman, M, et al.
(författare)
-
Predicting Nonhemolytic Neonatal Hyperbilirubinemia
- 2015
-
Ingår i: Pediatrics. - : American Academy of Pediatrics (AAP). - 1098-4275 .- 0031-4005. ; 136:6, s. 1087-1094
-
Tidskriftsartikel (refereegranskat)abstract
- Before hospital discharge, newborn infants should be assessed for the risk of excessive hyperbilirubinemia. We determined maternal and obstetric risk factors for hyperbilirubinemia in infants born at term (gestational age ≥37 weeks) to form an individualized risk assessment tool for clinical use.METHODS:This was a population-based study with data from the Swedish Medical Birth Register from 1999 to 2012, including 1 261 948 singleton infants. Outcome was defined as infants diagnosed with hyperbilirubinemia (N = 23 711), excluding all cases of hemolytic (immune-mediated or other specified hemolytic) diseases of the newborn.RESULTS:Risk factors with an adjusted odds ratio (aOR) for neonatal hyperbilirubinemia of ≥1.5 (medium-sized effect or more) were gestational age 37 to 38 weeks (aOR = 2.83), failed vacuum extraction (aOR = 2.79), vacuum extraction (aOR = 2.22), Asian mother (aOR = 2.09), primipara (aOR = 2.06), large-for-gestational-age infant (aOR = 1.84), obese mother (aOR = 1.83), and small-for-gestational-age infant (aOR = 1.66). Planned cesarean delivery (CD) was associated with a reduced risk (aOR = 0.45). Without any of these risk factors (normal birth weight infant delivered vaginally at 39 to 41 weeks’ gestation by a non-Asian, nonobese, multiparous mother) the rate of nonhemolytic neonatal hyperbilirubinemia was 0.7%. In relation to the combined load of different risk factors, rates of neonatal hyperbilirubinemia ranged from 0.2% to 25%.CONCLUSIONS:Collection of a few easily available maternal and obstetric risk factors predicts >100-fold variation in the incidence of neonatal hyperbilirubinemia. The information provided herein enables individualized risk prediction with interactions between different risk factors taken into account.
|
|
| 13. |
- Aberg, D, et al.
(författare)
-
Ultra-shallow thermal donor formation in oxygen-containing ambient
- 1998
-
Ingår i: Physica status solidi. B, Basic research. - 0370-1972 .- 1521-3951. ; 210, s. 527-532
-
Tidskriftsartikel (refereegranskat)abstract
- Czochralski-grown phosphorus-doped (approximate to 2 x 10(14) cm(-3)) silicon wafers have been annealed in nitrogen, wet nitrogen, argon, oxygen, and vacuum ambients at 470 degrees C for times up to 500 h. Sample characterization was made with capacitance-voltage, four-point probe, DLTS, thermally stimulated capacitance, admittance spectroscopy, secondary ion-mass spectrometry, and Fourier transform infrared spectroscopy. This study finds a strong relation between the previously reported ultra-shallow thermal donors (USTDs) and shallow thermal donors (STDs), and it is shown that the net concentration of thermally formed donors is independent on annealing ambient within the experimental accuracy. It was found that the majority of formed donors for long anneals consisted of either STDs or USTDs, however, it was found that oxygen-containing ambient is indispensable for forming USTDs.
|
|
| 14. |
- Aberg, D, et al.
(författare)
-
Ultrashallow thermal donor formation in silicon by annealing in ambient oxygen
- 1999
-
Ingår i: Journal of Applied Physics. - 0021-8979 .- 1089-7550. ; 85, s. 8054-8059
-
Tidskriftsartikel (refereegranskat)abstract
- Czochralski-grown silicon wafers doped with phosphorus (similar to 10(14) cm(-3)) have been annealed in nitrogen, wet nitrogen, oxygen, argon, and vacuum ambients at 470 degrees C for times up to 500 h. Sample characterization was made using predominantly electrical techniques such as admittance spectroscopy and thermally stimulated capacitance measurements but also secondary ion mass spectrometry (SIMS) and Fourier transform infrared spectroscopy were employed. In all samples, an increasing concentration of free carrier electrons is observed with increasing annealing time, reaching a maximum of similar to 10(16) cm(-3) at 100 h. For durations in excess of 100 h gradual decrease of the free electron concentration takes place except for the samples treated in wet nitrogen and oxygen atmospheres, which display donors stable even after 200 h. These stable centers are found to have shallower donor level positions in the energy band gap (similar to 25 meV below the conduction band edge E-c) than those of the centers formed in vacuum, argon, and nitrogen atmospheres (similar to 35 meV below E-c). The latter centers are associated with the well-established shallow thermal donors (STDs) while the origin of the former ones, which are labeled ultrashallow thermal donors (USTDs) is less known. However, on the basis of a wealth of experimental results we show that the USTDs are most likely perturbated STDs modified through interaction with fast-in diffusing oxygen species, possibly oxygen dimers. Further, comparison between the electrical data and the SIMS measurements reveals unambiguously that neither the STD nor the USTD centers involve nitrogen, in contrast to recent suggestions in the literature. (C) 1999 American Institute of Physics. [S0021-8979(99)06512-3].
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
|
|
| 18. |
|
|
| 19. |
|
|
| 20. |
|
|
| 21. |
|
|
| 22. |
|
|
| 23. |
|
|
| 24. |
|
|
| 25. |
- Balocco, C, et al.
(författare)
-
Microwave detection at 110 GHz by nanowires with broken symmetry
- 2005
-
Ingår i: Nano Letters. - : American Chemical Society (ACS). - 1530-6992 .- 1530-6984. ; 5:7, s. 1423-1427
-
Tidskriftsartikel (refereegranskat)abstract
- By using arrays of nanowires with intentionally broken symmetry, we were able to detect microwaves up to 110 GHz at room temperature. This is, to the best of our knowledge, the highest speed that has been demonstrated in different types of novel electronic nanostructures to date. Our experiments showed a rather stable detection sensitivity over a broad frequency range from 100 MHz to 110 GHz. The novel working principle enabled the nanowires to detect microwaves efficiently without a dc bias. In principle, the need for only one high-resolution lithography step and the planar architecture allow an arbitrary number of nanowires to be made by folding a linear array as many times as required over a large area, for example, a whole wafer. Our experiment on 18 parallel nanowires showed a sensitivity of approximately 75 mV dc output/mW of nominal input power of the 110 GHz signal, even though only about 0.4% of the rf power was effectively applied to the structure because of an impedance mismatch. Because this array of nanowires operates simultaneously, low detection noise was achieved, allowing us to detect -25 dBm 110 GHz microwaves at zero bias with a standard setup.
|
|
| 26. |
- Bhattacharya, Romit, et al.
(författare)
-
Risk factors for clonal hematopoiesis of indeterminate potential in people with HIV : a report from the REPRIEVE trial
- 2024
-
Ingår i: Blood Advances. - 2473-9529. ; 8:4, s. 959-967
-
Tidskriftsartikel (refereegranskat)abstract
- Clonal hematopoiesis of indeterminate potential (CHIP), the clonal expansion of myeloid cells with leukemogenic mutations, results in increased coronary artery disease (CAD) risk. CHIP is more prevalent among people with HIV (PWH), but the risk factors are unknown. CHIP was identified among PWH in REPRIEVE (Randomized Trial to Prevent Vascular Events in HIV) using whole-exome sequencing. Logistic regression was used to associate sociodemographic factors and HIV-specific factors with CHIP adjusting for age, sex, and smoking status. In the studied global cohort of 4486 PWH, mean age was 49.9 (standard deviation [SD], 6.4) years; 1650 (36.8%) were female; and 3418 (76.2%) were non-White. CHIP was identified in 223 of 4486 (4.97%) and in 38 of 373 (10.2%) among those aged ≥60 years. Age (odds ratio [OR], 1.07; 95% confidence interval [CI], 1.05-1.09; P < .0001) and smoking (OR, 1.37; 95% CI, 1.14-1.66; P < .001) associated with increased odds of CHIP. Globally, participants outside of North America had lower odds of CHIP including sub- Saharan Africa (OR, 0.57; 95% CI, 0.4-0.81; P = .0019), South Asia (OR, 0.45; 95% CI, 0.23-0.80; P = .01), and Latin America/Caribbean (OR, 0.56; 95% CI, 0.34-0.87; P = .014). Hispanic/Latino ethnicity (OR, 0.38; 95% CI, 0.23-0.54; P = .002) associated with significantly lower odds of CHIP. Among HIV-specific factors, CD4 nadir <50 cells/mm3 associated with a 1.9-fold (95% CI, 1.21-3.05; P = .006) increased odds of CHIP, with the effect being significantly stronger among individuals with short duration of antiretroviral therapy (ART; OR, 4.15; 95% CI, 1.51-11.1; P = .005) (Pinteraction= .0492). Among PWH at low-to-moderate CAD risk on stable ART, smoking, CD4 nadir, North American origin, and non-Hispanic ethnicity associated with increased odds of CHIP.
|
|
| 27. |
|
|
| 28. |
|
|
| 29. |
|
|
| 30. |
|
|
| 31. |
|
|
| 32. |
|
|
| 33. |
|
|
| 34. |
- Hallén, Anders., et al.
(författare)
-
Ion implantation of silicon carbide
- 2002
-
Ingår i: Nuclear Instruments and Methods in Physics Research Section B. - 0168-583X .- 1872-9584. ; 186, s. 186-194
-
Tidskriftsartikel (refereegranskat)abstract
- Ion implantation is an important technique for a successful implementation of commercial SiC devices. Much effort has also been devoted to optimising implantation and annealing parameters to improve the electrical device characteristics. However, there is a severe lack of understanding of the fundamental implantation process and the generation and annealing kinetics of point defects and defect complexes. Only very few of the most elementary intrinsic point defects have been unambiguously identified so far. To reach a deeper understanding of the basic mechanisms SiC samples have been implanted with a broad range of ions, energies, doses, etc., and the resulting defects and damage produced in the lattice have been studied with a multitude of characterisation techniques. In this contribution we will review some of the results generated recently and also try to indicate where more research is needed. In particular, deep level transient spectroscopy (DLTS) has been used to investigate point defects at very low doses and transmission electron microscopy (TEM) and Rutherford backscattering spectrometry (RBS) are used for studying the damage build-up at high doses.
|
|
| 35. |
|
|
| 36. |
- Karady, Julia, et al.
(författare)
-
Coronary Plaque in People With HIV vs Non-HIV Asymptomatic Community and Symptomatic Higher-Risk Populations
- 2024
-
Ingår i: JACC: Advances. - 2772-963X. ; 3:6
-
Tidskriftsartikel (refereegranskat)abstract
- Background: People with HIV (PWH) have a high burden of coronary plaques; however, the comparison to people without known HIV (PwoH) needs clarification. Objectives: The purpose of this study was to determine coronary plaque burden/phenotype in PWH vs PwoH. Methods: Nonstatin using participants from 3 contemporary populations without known coronary plaques with coronary CT were compared: the REPRIEVE (Randomized Trial to Prevent Vascular Events in HIV) studying PWH without cardiovascular symptoms at low-to-moderate risk (n = 755); the SCAPIS (Swedish Cardiopulmonary Bioimage Study) of asymptomatic community PwoH at low-to-intermediate cardiovascular risk (n = 23,558); and the PROMISE (Prospective Multicenter Imaging Study for Evaluation of Chest Pain) of stable chest pain PwoH (n = 2,291). The coronary plaque prevalence on coronary CT was compared, and comparisons were stratified by 10-year atherosclerotic cardiovascular disease (ASCVD) risk, age, and coronary artery calcium (CAC) presence. Results: Compared to SCAPIS and PROMISE PwoH, REPRIEVE PWH were younger (50.8 ± 5.8 vs 57.3 ± 4.3 and 60.0 ± 8.0 years; P < 0.001) and had lower ASCVD risk (5.0% ± 3.2% vs 6.0% ± 5.3% and 13.5% ± 11.0%; P < 0.001). More PWH had plaque compared to the asymptomatic cohort (48.5% vs 40.3%; P < 0.001). When stratified by ASCVD risk, PWH had more plaque compared to SCAPIS and a similar prevalence of plaque compared to PROMISE. CAC = 0 was more prevalent in PWH (REPRIEVE 65.2%; SCAPIS 61.6%; PROMISE 49.6%); among CAC = 0, plaque was more prevalent in PWH compared to the PwoH cohorts (REPRIEVE 20.8%; SCAPIS 5.4%; PROMISE 12.3%, P < 0.001). Conclusions: Asymptomatic PWH in REPRIEVE had more plaque than asymptomatic PwoH in SCAPIS but had similar prevalence to a higher-risk stable chest pain cohort in PROMISE. In PWH, CAC = 0 does not reliably exclude plaque.
|
|
| 37. |
- Karlen, A, et al.
(författare)
-
Nogo receptor 1 regulates formation of lasting memories
- 2009
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 1091-6490. ; 106:48, s. 20476-20481
-
Tidskriftsartikel (refereegranskat)abstract
- Formation of lasting memories is believed to rely on structural alterations at the synaptic level. We had found that increased neuronal activity down-regulates Nogo receptor-1 (NgR1) in brain regions linked to memory formation and storage, and postulated this to be required for formation of lasting memories. We now show that mice with inducible overexpression of NgR1 in forebrain neurons have normal long-term potentiation and normal 24-h memory, but severely impaired month-long memory in both passive avoidance and swim maze tests. Blocking transgene expression normalizes these memory impairments. Nogo, Lingo-1, Troy, endogenous NgR1, and BDNF mRNA expression levels were not altered by transgene expression, suggesting that the impaired ability to form lasting memories is directly coupled to inability to down-regulate NgR1. Regulation of NgR1 may therefore serve as a key regulator of memory consolidation. Understanding the molecular underpinnings of synaptic rearrangements that carry lasting memories may facilitate development of treatments for memory dysfunction.
|
|
| 38. |
|
|
| 39. |
- Lebedev, A. V., et al.
(författare)
-
Psychedelic drug use and schizotypy in young adults
- 2021
-
Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1
-
Tidskriftsartikel (refereegranskat)abstract
- Despite recently resurrected scientific interest in classical psychedelics, few studies have focused on potential harms associated with abuse of these substances. In particular, the link between psychedelic use and psychotic symptoms has been debated while no conclusive evidence has been presented. Here, we studied an adult population (n=1032) with a special focus on young (18-35 years) and healthy individuals (n=701) to evaluate the association of psychedelic drug use with schizotypy and evidence integration impairment typically observed in psychosis-spectrum disorders. Experimental behavioural testing was performed in a subsample of the subjects (n=39). We observed higher schizotypy scores in psychedelic users in the total sample. However, the effect size was notably small and only marginally significant when considering young and healthy subjects (Cohen's d=0.13). Controlling for concomitant drug use, none of our analyses found significant associations between psychedelic use and schizotypal traits. Results from experimental testing showed that total exposure to psychedelics (frequency and temporal proximity of use) was associated with better evidence integration (Cohen's d=0.13) and a higher sensitivity of fear responses (Cohen's d=1.05) to the effects instructed knowledge in a reversal aversive learning task modelled computationally with skin conductance response and pupillometry. This effect was present even when controlling for demographics and concomitant drug use. On a group level, however, only difference in sensitivity of fear responses to instructed knowledge reached statistical significance. Taken together, our findings suggest that psychedelic drug use is only weakly associated with psychosis-like symptoms, which, in turn, is to a large extent explained by psychiatric comorbidities and use of other psychoactive substances. Our results also suggest that psychedelics may have an effect on flexibility of evidence integration and aversive learning processes, that may be linked to recently suggested therapeutic effects of psychedelic drugs in non-psychotic psychiatric populations.
|
|
| 40. |
- Lee, S. K., et al.
(författare)
-
Reduction of the Schottky barrier height on silicon carbide using Au nano-particles
- 2002
-
Ingår i: Solid-State Electronics. - 0038-1101 .- 1879-2405. ; 46:9, s. 1433-1440
-
Tidskriftsartikel (refereegranskat)abstract
- By the incorporation of size-selected Au nano-particles in Ti Schottky contacts on silicon carbide, we could observe considerably lower the barrier height of the contacts. This result could be obtained for both n- and p-type Schottky contacts using current-voltage and capacitance voltage measurements. For n-type Schottky contacts, we observed reductions of 0.19-0.25 eV on 4H-SiC and 0.15-0.17 eV on 6H-SiC as compared with particle-free Ti Schottky contacts. For p-type SiC, the reduction was a little lower with 0.02-0.05 eV on 4H- and 0.10-0.13 eV on 6H-SiC. The reduction of the Schottky barrier height is explained using a model with enhanced electric field at the interface due to the small size of the circular patch and the large difference of the barrier height between Ti and Au.
|
|
| 41. |
|
|
| 42. |
|
|
| 43. |
- Lundborg, L, et al.
(författare)
-
Association of body mass index and maternal age with first stage duration of labour
- 2021
-
Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1, s. 13843-
-
Tidskriftsartikel (refereegranskat)abstract
- To evaluate associations between early-pregnancy body mass index (BMI) and active first stage labour duration, accounting for possible interaction with maternal age, we conducted a cohort study of women with spontaneous onset of labour allocated to Robson group 1. Quantile regression analysis was performed to estimate first stage labour duration between BMI categories in two maternal age subgroups (more and less than 30 years). Results show that obesity (BMI > 30) among younger women (< 30 years) increased the median labour duration of first stage by 30 min compared with normal weight women (BMI < 25), and time difference estimated at the 90th quantile was more than 1 h. Active first stage labour time differences between obese and normal weight women was modified by maternal age. In conclusion: (a) obesity is associated with longer duration of first stage of labour, and (b) maternal age is an effect modifier for this association. This novel finding of an effect modification between BMI and maternal age contributes to the body of evidence that supports a more individualized approach when describing labour duration.
|
|
| 44. |
|
|
| 45. |
|
|
| 46. |
|
|
| 47. |
|
|
| 48. |
|
|
| 49. |
|
|
| 50. |
- Osterman, J, et al.
(författare)
-
Techniques for depth profiling of dopants in 4H-SiC
- 2001
-
Ingår i: SILICON CARBIDE AND RELATED MATERIALS, ECSCRM2000. ; , s. 559-562
-
Konferensbidrag (refereegranskat)abstract
- Three different methods for measuring the depth distribution of dopants in 4H-SiC have been investigated: (I) Spreading Resistance profiling (SRP), (2) Scanning Capacitance Microscopy (SCM) and (3) Scanning Electron Microscopy (SEM). The investigated samples included p- and n-type epitaxial layers grown by vapor phase deposition with doping concentrations of 10(16)-10(20) cm(-3). Also p(+)n implanted profiles using a combination of Al and B multi-energy implantations were studied. All techniques were able to provide doping profiles qualitatively corresponding to secondary ion mass spectrometry (SIMS) data. The SRP results suggest a lower limit of the p-doping concentration below which the ohmic contact between the probe tip and sample becomes more Schottky-like. The magnitude of the SCM signal corresponds well to the chemical doping profile except in the depleted region surrounding the metallurgical junction of the p(+)n structure.
|
|
