| 1. |
- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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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.
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| 2. |
- Guintivano, Jerry, et al.
(författare)
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Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression
- 2023
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Ingår i: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 180:12, s. 884-895
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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).
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| 3. |
- Aberg, B, et al.
(författare)
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Delayed left ventricular free wall rupture complicating coronary artery bypass surgery. A case report.
- 1985
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Ingår i: Scandinavian journal of thoracic and cardiovascular surgery. - : Informa UK Limited. - 0036-5580. ; 19:3, s. 273-7
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Tidskriftsartikel (refereegranskat)abstract
- Rupture of the left ventricular free wall is a not uncommon life-threatening complication of acute myocardial infarction and after prosthetic mitral valve replacement. To our knowledge, no case of left ventricular rupture after coronary artery bypass surgery has been reported. A case is now described in which coronary artery bypass grafting was complicated by delayed rupture, which was successfully repaired. Different etiologic factors are discussed, but the cause considered most likely was trauma from elevation of and traction on the heart in exposure of its posterior aspect.
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| 7. |
- Aberg, D, et al.
(författare)
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Ultra-shallow thermal donor formation in oxygen-containing ambient
- 1998
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Ingår i: Physica status solidi. B, Basic research. - 0370-1972 .- 1521-3951. ; 210, s. 527-532
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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.
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| 8. |
- Aberg, D, et al.
(författare)
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Ultrashallow thermal donor formation in silicon by annealing in ambient oxygen
- 1999
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Ingår i: Journal of Applied Physics. - 0021-8979 .- 1089-7550. ; 85, s. 8054-8059
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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].
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| 21. |
- Andersson, L. Mauritz, et al.
(författare)
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Properties of a discretized coherent state representation and the relation to Gabor analysis
- 2002
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Ingår i: Journal of Physics A. - : IOP Publishing. - 0305-4470 .- 1361-6447. ; 35:36, s. 7787-7801
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Tidskriftsartikel (refereegranskat)abstract
- Properties of a discretized coherent state representation (DCSR) and its connection to Gabor frame analysis are discussed. The DCSR approach was recently shown (Andersson L M 2001 J. Chem. Phys. 115 1158) to yield a practical computational scheme for quantum dynamics, and an iterative scheme for finding the identity operator was proposed. In the present work, we suggest a proof of fast convergence of the iterative scheme for computing the canonical dual to any given countable frame in a Hilbert space. The method of frames is concerned with the use of a non-orthogonal, over-complete set of functions for expansion of an arbitrary function. We also introduce the concept of 'representations of the identity operator' and show how to expand arbitrary vectors using the frame elements, without explicit diagonalization to an orthonormal basis. Numerical examples that illustrate the method are shown.
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| 22. |
- Appelkvist, E L, et al.
(författare)
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Regulation of coenzyme Q biosynthesis
- 1994
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Ingår i: Molecular Aspects of Medicine. - 0098-2997 .- 1872-9452. ; 15:Suppl., s. 37-46
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Forskningsöversikt (refereegranskat)abstract
- The side-chain moiety of coenzyme Q is synthesized by a trans-prenyltransferase present in microsomes. Condensation of this moiety with the precursor ring takes place in the Golgi system. The enzymes involved, as well as the cytosolic geranylgeranyl-PP synthase, are regulated in an independent fashion. When the size of the farnesyl-PP pool is decreased or increased by employing appropriate inhibitors, the rate of CoQ synthesis is modified accordingly, indicating the dependence of trans-prenyltransferase activity on the level of intracellular substrate concentrations. Administration of peroxisome proliferators elevates CoQ concentrations not only in blood, but also in various tissues. Thus, it may be possible in the future to selectively increase CoQ concentrations in certain organs, without increasing the level of cholesterol.
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| 25. |
- Balocco, C, et al.
(författare)
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Microwave detection at 110 GHz by nanowires with broken symmetry
- 2005
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Ingår i: Nano Letters. - : American Chemical Society (ACS). - 1530-6992 .- 1530-6984. ; 5:7, s. 1423-1427
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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.
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| 28. |
- Bhattacharya, Romit, et al.
(författare)
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Risk factors for clonal hematopoiesis of indeterminate potential in people with HIV : a report from the REPRIEVE trial
- 2024
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Ingår i: Blood Advances. - 2473-9529. ; 8:4, s. 959-967
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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.
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| 39. |
- Grahn, Ammi, 1961, et al.
(författare)
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Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples.
- 2001
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Ingår i: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 18:4, s. 358-9
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Tidskriftsartikel (refereegranskat)abstract
- We have developed a polymerase chain reaction method using sequence-specific primers (PCR-SSP) for rapid and correct genotyping of the common Lewis (FUT3) gene mutations 59T>G, 202T>C, 314C>T, 508G>A, and 1067T>A. The PCR-SSP method was validated on 20 healthy blood donors and 16 non-insulin-dependent diabetic patients. All individuals were in parallel genotyped by our established polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The FUT3 genotypes, determined with the PCR-SSP method, were in complete accordance with the results of the PCR-RFLP reference method. The PCR-SSP method could also be adapted to assign the presence of a specific mutation to the respective FUT3 alleles. We found the method to be reliable, rapid and cheap with no requirements for restriction enzyme processing.
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| 40. |
- Hugoson, Anders, et al.
(författare)
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Caries prevalence and distribution in 3-20-year-olds in Jönköping, Sweden, in 1973, 1978, 1983, and 1993.
- 2000
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Ingår i: Community Dentistry and Oral Epidemiology. - 0301-5661 .- 1600-0528. ; 28:2, s. 83-89
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Tidskriftsartikel (refereegranskat)abstract
- Four cross-sectional studies were carried out in 1973, 1978, 1983, and 1993 to collect clinical and radiographic epidemiological data on the dental health status of the inhabitants of Jönköping, Sweden. The aim of the present paper was to use these data to analyze trends in the development of caries among children and adolescents between 1973 and 1993. Approximately 500 randomly selected individuals evenly distributed among the age groups 3, 5, 10, 15, and 20 years participated in each study. The main results show that the numbers of caries-free individuals increased in all age groups. In 1993, the mean number of decayed and filled tooth surfaces in the primary (dfs) and the permanent (DFS) dentition in all age groups was less than half of that found in 1973. Most of this decrease took place during the first 5 years, i.e., between 1973 and 1978. Between 1978 and 1983, only minor changes were observed. There was a further reduction of approximately 30%-50% in dfs/DFS between 1983 and 1993 in 3-, 5-, 10-, and 20-year-olds. The frequency distributions of dfs/DFS for 5- and 15-year-olds revealed an increasing skewness over time: in 1993, a large majority of the children and adolescents had a low or moderate caries severity while only a small group had high scores of dfs/DFS.
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| 41. |
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| 44. |
- Karlen, A, et al.
(författare)
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Nogo receptor 1 regulates formation of lasting memories
- 2009
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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
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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.
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| 45. |
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| 46. |
- Lebedev, A. V., et al.
(författare)
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Psychedelic drug use and schizotypy in young adults
- 2021
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1
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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.
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| 47. |
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| 48. |
- Liljeros, Fredrik, et al.
(författare)
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The web of human sexual contacts.
- 2001
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Ingår i: Nature. - 0028-0836. ; 411:6840, s. 907-8
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 49. |
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| 50. |
- Lundborg, L, et al.
(författare)
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Association of body mass index and maternal age with first stage duration of labour
- 2021
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1, s. 13843-
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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.
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