| 1. |
- Blokland, G. A. M., et al.
(author)
-
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
- 2022
-
In: Biological Psychiatry. - : Elsevier BV. - 0006-3223 .- 1873-2402. ; 91:1, s. 102-117
-
Journal article (peer-reviewed)abstract
- Background: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk. Methods: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. Results: Across disorders, genome-wide significant single nucleotide polymorphism–by-sex interaction was detected for a locus encompassing NKAIN2 (rs117780815, p = 3.2 × 10−8), which interacts with sodium/potassium-transporting ATPase (adenosine triphosphatase) enzymes, implicating neuronal excitability. Three additional loci showed evidence (p < 1 × 10−6) for cross-disorder G×S interaction (rs7302529, p = 1.6 × 10−7; rs73033497, p = 8.8 × 10−7; rs7914279, p = 6.4 × 10−7), implicating various functions. Gene-based analyses identified G×S interaction across disorders (p = 8.97 × 10−7) with transcriptional inhibitor SLTM. Most significant in SCZ was a MOCOS gene locus (rs11665282, p = 1.5 × 10−7), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509, p = 1.1 × 10−7) in a locus containing IDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant G×S interaction of genes regulating vascular endothelial growth factor receptor signaling in MDD (false discovery rate-corrected p < .05). Conclusions: In the largest genome-wide G×S analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development and immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway levels. © 2021 Society of Biological Psychiatry
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
- Addazi, A., et al.
(author)
-
New high-sensitivity searches for neutrons converting into antineutrons and/or sterile neutrons at the HIBEAM/NNBAR experiment at the European Spallation Source
- 2021
-
In: Journal of Physics G. - : Institute of Physics Publishing (IOPP). - 0954-3899 .- 1361-6471. ; 48:7
-
Journal article (peer-reviewed)abstract
- The violation of baryon number, , is an essential ingredient for the preferential creation of matter over antimatter needed to account for the observed baryon asymmetry in the Universe. However, such a process has yet to be experimentally observed. The HIBEAM/NNBAR program is a proposed two-stage experiment at the European Spallation Source to search for baryon number violation. The program will include high-sensitivity searches for processes that violate baryon number by one or two units: free neutron–antineutron oscillation () via mixing, neutron–antineutron oscillation via regeneration from a sterile neutron state (), and neutron disappearance (n → n'); the effective process of neutron regeneration () is also possible. The program can be used to discover and characterize mixing in the neutron, antineutron and sterile neutron sectors. The experiment addresses topical open questions such as the origins of baryogenesis and the nature of dark matter, and is sensitive to scales of new physics substantially in excess of those available at colliders. A goal of the program is to open a discovery window to neutron conversion probabilities (sensitivities) by up to three orders of magnitude compared with previous searches. The opportunity to make such a leap in sensitivity tests should not be squandered. The experiment pulls together a diverse international team of physicists from the particle (collider and low energy) and nuclear physics communities, while also including specialists in neutronics and magnetics.
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
|
|
| 15. |
- Carli, V, et al.
(author)
-
Self-harm in prisoners
- 2011
-
In: CNS spectrums. - 1092-8529. ; 16:3, s. 75-81
-
Journal article (peer-reviewed)
|
|
| 16. |
- Karna, E., et al.
(author)
-
A Multilevel Model of Older Adults' Appropriation of ICT and Acquisition of Digital Literacy
- 2022
-
In: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1661-7827 .- 1660-4601. ; 19:23
-
Journal article (peer-reviewed)abstract
- Digital literacy refers to a set of competencies related to the skilled use of computers and information technology. Low digital skills can be a barrier for older adults' full participation in a digital society, and COVID-19 has increased this risk of social exclusion. Older adults' digital inclusion is a complex process that consists of the interplay of structural and individual factors. The ACCESS project unwrapped the complexity of the process and developed an innovative, multilevel model that illustrates how societal, institutional, material and pedagogical aspects shape adults' appropriation of digital literacy. A holistic model describes factors contributing to older adults' digital literacy, acknowledging sociocultural contexts, environments, learning settings and instruction practices for learning digital literacy. Instead of seeing older adults' reasons for learning digital skills purely as individual choice, this model recognizes the interpersonal, institutional and societal aspects that implicitly or explicitly influence older adults' acquisition of digital literacy. The results offer a tool for stakeholders, the research community, companies, designers and other relevant stakeholders to consider digital skills and the given support. It demands diverse communication between different stakeholders about the things that should be discussed when organizing digital support in digitalized societies.
|
|
| 17. |
- Tikkanen, R., et al.
(author)
-
Influence of a HTR2B Stop Codon on Glucagon Homeostasis and Glucose Excursion in Non-Diabetic Men
- 2016
-
In: Experimental and clinical endocrinology & diabetes. - : Georg Thieme Verlag KG. - 0947-7349 .- 1439-3646. ; 124:9, s. 529-534
-
Journal article (peer-reviewed)abstract
- Limited data are available about the role of the serotonin 2B (5-HT2B) receptor in the function of human islets. This study aimed to test whether the 5-HT2B receptor contributes to glucose, insulin, and glucagon homeostasis in humans, utilizing a hereditary loss-of-function gene mutation in the receptor, which causes a 50% reduction in the production of the receptor protein in heterozygotes. This clinical study enrolled participants recruited by newspaper advertisements and from mental status examinations. A cohort of participants from a young Finnish founder population composed of 68 non-diabetic males with a mean age of 30 was divided into groups for comparison based on being a 5-HT2B receptor loss-of-function gene mutation (HTR2B Q20*) heterozygote carrier (n=11) or not (n=57). Serum levels of glucose, insulin, and glucagon were measured in a 5h oral glucose tolerance test using a 75g glucose challenge. Insulin resistance, insulin sensitivity, and beta cell activity were calculated using the homeostasis model assessment (HOMA2) and whole body insulin sensitivity index (WBISI), as well as the ratio of glucagon to insulin was noted. The areas under the curves (AUCs) were also determined. Concentrations of the serotonin metabolite 5-hydroxyindoleacetic acid (5-HIAA) were measured in cerebrospinal fluid (CSF). Covariate adjusted mean score comparisons were applied. Lower glucagon secretion and decreased glucose excursion were observed among HTR2B Q20* carriers as compared with individuals who were homozygotes for the wild-type Q20 allele (controls). No differences in insulin secretion, beta cell activity, insulin resistance, or insulin sensitivity were observed. The glucagon to insulin ratio differed between the HTR2B Q20* carriers and controls. CSF levels of 5-HIAA were similar between groups. Our findings indicate that the 5-HT2B receptor may contribute to the regulation of human glucagon and glucose homeostasis and the interplay between glucagon and insulin secretion.
|
|
| 18. |
|
|
| 19. |
|
|
| 20. |
|
|
| 21. |
- Dahl, S., et al.
(author)
-
Gestures in Performance
- 2010
-
In: Musical Gestures. - : Taylor and Francis. ; , s. 36-68
-
Book chapter (other academic/artistic)abstract
- On occasion, one can observe a whole orchestra section moving and playing in unison. In such an instance, all violinists play the melody using the same type of bowing movements and lean forward in unison at a given time during a specific passage in the music. Thus, not only do the musicians use very similar movements to produce the same notes but they sometimes also coordinate bodily sways or other movements with the other players. The musical gesture seems to manifest itself in both sound and movement. Whether we are watching as audience, or participating and interacting in the actual performance itself, we receive a considerable amount of gestural information. The aim of this chapter is to give examples of gestures that may be observed during performance, and to consider the kind of information they might convey, either to other performers or to the audience.
|
|
| 22. |
|
|
| 23. |
|
|
| 24. |
- Ryzhov, I.V., et al.
(author)
-
Fragment-mass distributions in neutron-induced fission of 232Th and 238U at 33, 45, and 60 MeV
- 2011
-
In: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 83:5, s. 054603-
-
Journal article (peer-reviewed)abstract
- We have measured fission fragment-mass yields for neutron-induced fission of Th-232 and U-238 at energies 32.8, 45.3, and 59.9 MeV. The experiments were done at quasimonoenergetic neutron beams of the Cyclotron Research Center at Louvain-la-Neuve. To detect the fission fragments, a multisection Frisch-gridded ionization chamber was used. The measurement and data analysis techniques are discussed in detail. The obtained mass yields are compared to model calculations with the intermediate-energy nuclear reaction code MCFX. The MCFX code is used to calculate the fraction of fissioning nuclei after cascade, preequilibrium, and statistical reaction stages. The formation of mass distributions is considered as a result of oscillations of the mass-asymmetry degree of freedom in the potential well calculated with the temperature-dependent shell correction method. The experimental results as well as the results of the model calculations demonstrate that the probability of symmetric fission increases with incident neutron energy for both nuclei. The comparison also shows that the symmetric fission is more enhanced for thorium than for uranium with increasing neutron energy. We also compare U-238 results with available experimental data; the Th-232 data were measured for the first time.
|
|
| 25. |
- Ryzhov, I. V., et al.
(author)
-
Measurement of Fragment Mass Yields in Neutron-induced Fission of (232)Th and (238)U at 33, 45 and 60 MeV
- 2011
-
In: Journal of the Korean Physical Society. - : Korean Physical Society. - 0374-4884 .- 1976-8524. ; 59:2, s. 1864-1867
-
Journal article (peer-reviewed)abstract
- Incineration of spent nuclear fuel in Accelerator Driven Systems requires nuclear data on neutron-induced fission of actinides at energies above 20 MeV - the upper limit of conventional evaluated nuclear data files. Over the past years, a significant effort has been devoted to measurements of neutron-induced fission cross-sections at intermediate energies but there is a lack of experimental data on fission yields. Here we describe recent measurements of pre-neutron emission fragment mass distributions from intermediate energy neutron-induced fission of (232)Th and (238)U. The measurements have been carried out at the neutron beam of the Louvain-la-Neuve cyclotron facility CYCLONE. Quasi-monoenergetic neutrons with peak energies at 32.8, 45.3 and 59.9 MeV were produced by protons impinging on a thin lithium target. A multi-section Frisch-gridded ionization chamber was used as a fission fragment detector. The measurement results are compared with available experimental data as well as with predictions of the multi-modal random neck-rupture model implemented into the TALYS code.
|
|
| 26. |
|
|
| 27. |
- Schiava, M., et al.
(author)
-
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
- 2022
-
In: Journal of Neurology Neurosurgery and Psychiatry. - : BMJ. - 0022-3050 .- 1468-330X. ; 93:10, s. 1099-1111
-
Journal article (peer-reviewed)abstract
- Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. Methods Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. Results Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8 +/- 9.6 years and mean age of onset 45.6 +/- 9.3 years. Mean diagnostic delay was 7.7 +/- 6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8 +/- 7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC Conclusion This study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease.
|
|
| 28. |
- Simutkin, Vasily D., et al.
(author)
-
Experimental Neutron-induced Fission Fragment Mass Yields of Th-232 and U-238 at Energies from 10 to 33 MeV
- 2014
-
In: Nuclear Data Sheets. - : Elsevier BV. - 0090-3752 .- 1095-9904. ; 119, s. 331-333
-
Journal article (peer-reviewed)abstract
- Development of nuclear energy applications requires data for neutron-induced reactions for actinides in a wide neutron energy range. Here we describe measurements of pre-neutron emission fission fragment mass yields of Th-232 and U-238 at incident neutron energies from 10 to 33 MeV. The measurements were done at the quasi-monoenergetic neutron beam of the Louvain-la-Neuve cyclotron facility CYCLONE; a multi-section twin Frisch-gridded ionization chamber was used to detect fission fragments. For the peak neutron energies at 33, 45 and 60 MeV, the details of the data analysis and the experimental results were published in Ref. [1]. In this work we present data analysis in the low-energy tail of the neutron energy spectra. The preliminary measurement results are compared with available experimental data and theoretical predictions.
|
|
| 29. |
|
|
| 30. |
- Smith, ER, et al.
(author)
-
Adverse maternal, fetal, and newborn outcomes among pregnant women with SARS-CoV-2 infection: an individual participant data meta-analysis
- 2023
-
In: BMJ global health. - : BMJ. - 2059-7908. ; 8:1
-
Journal article (peer-reviewed)abstract
- Despite a growing body of research on the risks of SARS-CoV-2 infection during pregnancy, there is continued controversy given heterogeneity in the quality and design of published studies.MethodsWe screened ongoing studies in our sequential, prospective meta-analysis. We pooled individual participant data to estimate the absolute and relative risk (RR) of adverse outcomes among pregnant women with SARS-CoV-2 infection, compared with confirmed negative pregnancies. We evaluated the risk of bias using a modified Newcastle-Ottawa Scale.ResultsWe screened 137 studies and included 12 studies in 12 countries involving 13 136 pregnant women.Pregnant women with SARS-CoV-2 infection—as compared with uninfected pregnant women—were at significantly increased risk of maternal mortality (10 studies; n=1490; RR 7.68, 95% CI 1.70 to 34.61); admission to intensive care unit (8 studies; n=6660; RR 3.81, 95% CI 2.03 to 7.17); receiving mechanical ventilation (7 studies; n=4887; RR 15.23, 95% CI 4.32 to 53.71); receiving any critical care (7 studies; n=4735; RR 5.48, 95% CI 2.57 to 11.72); and being diagnosed with pneumonia (6 studies; n=4573; RR 23.46, 95% CI 3.03 to 181.39) and thromboembolic disease (8 studies; n=5146; RR 5.50, 95% CI 1.12 to 27.12).Neonates born to women with SARS-CoV-2 infection were more likely to be admitted to a neonatal care unit after birth (7 studies; n=7637; RR 1.86, 95% CI 1.12 to 3.08); be born preterm (7 studies; n=6233; RR 1.71, 95% CI 1.28 to 2.29) or moderately preterm (7 studies; n=6071; RR 2.92, 95% CI 1.88 to 4.54); and to be born low birth weight (12 studies; n=11 930; RR 1.19, 95% CI 1.02 to 1.40). Infection was not linked to stillbirth. Studies were generally at low or moderate risk of bias.ConclusionsThis analysis indicates that SARS-CoV-2 infection at any time during pregnancy increases the risk of maternal death, severe maternal morbidities and neonatal morbidity, but not stillbirth or intrauterine growth restriction. As more data become available, we will update these findings per the published protocol.
|
|
| 31. |
|
|
| 32. |
|
|
| 33. |
- Tikkanen, R, et al.
(author)
-
Impulsive alcohol-related risk-behavior and emotional dysregulation among individuals with a serotonin 2B receptor stop codon
- 2015
-
In: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 5, s. e681-
-
Journal article (peer-reviewed)abstract
- A relatively common stop codon (Q20*) was identified in the serotonin 2B receptor gene (HTR2B) in a Finnish founder population in 2010 and it was associated with impulsivity. Here we examine the phenotype of HTR2B Q20* carriers in a setting comprising 14 heterozygous HTR2B Q20* carriers and 156 healthy controls without the HTR2B Q20*. The tridimensional personality questionnaire, Brown–Goodwin lifetime aggression scale, the Michigan alcoholism screening test and lifetime drinking history were used to measure personality traits, impulsive and aggressive behavior, both while sober and under the influence of alcohol, and alcohol consumption. Regression analyses showed that among the HTR2B Q20* carriers, temperamental traits resembled a passive-dependent personality profile, and the presence of the HTR2B Q20* predicted impulsive and aggressive behaviors particularly under the influence of alcohol. Results present examples of how one gene may contribute to personality structure and behaviors in a founder population and how personality may translate into behavior.
|
|
| 34. |
- Tikkanen, Roope, et al.
(author)
-
The effects of a HTR2B stop codon and testosterone on energy metabolism and beta cell function among antisocial Finnish males
- 2016
-
In: Journal of Psychiatric Research. - : Elsevier BV. - 0022-3956 .- 1879-1379. ; 81, s. 79-86
-
Journal article (peer-reviewed)abstract
- Herein, we examined insulin resistance (IR), insulin sensitivity (IS), beta cell activity, and glucose metabolism in subjects with antisocial personality disorder (ASPD), and whether the serotonin 2B (5-HT2B) receptor and testosterone have a role in energy metabolism. A cohort of subjects belonging to a founder population that included 98 ASPD males, aged 25-30, was divided into groups based on the presence of a heterozygous 5-HT2B receptor loss-of-function gene mutation (HTR2B Q20*; n = 9) or not (n = 89). Serum glucose and insulin levels were measured in a 5 h oral glucose tolerance test (75 g) and indices describing IR, IS, and beta cell activity were calculated. Body mass index (BMI) was also determined. Concentrations of the serotonin metabolite 5-hydroxyindoleacetic acid were measured in cerebrospinal fluid, and testosterone levels from serum. An IR-like state comprising high IR, low IS, and high beta cell activity indices was observed among ASPD subjects without the HTR2B Q20* allele. By contrast, being an ASPD HTR2B Q20* carrier appeared to be preventive of these pathophysiologies. The HTR2B Q20* allele and testosterone predicted lower BMI independently, but an interaction between HTR2B Q20* and testosterone lead to increased insulin sensitivity among HTR2B Q20* carriers with low testosterone levels. The HTR2B Q20* allele also predicted reduced beta cell activity and enhanced glucose metabolism. Reduced 5-HT2B receptor function at low or normal testosterone levels may be protective of obesity. Results were observed among Finnish males having an antisocial personality disorder, which limits the generality.
|
|
| 35. |
- Tollenaar, LSA, et al.
(author)
-
Post-Laser Twin Anemia Polycythemia Sequence: Diagnosis, Management, and Outcome in an International Cohort of 164 Cases
- 2020
-
In: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 9:6
-
Journal article (peer-reviewed)abstract
- The aim of this study was to investigate the management and outcome in the post-laser twin anemia polycythemia sequence (TAPS). Data of the international TAPS Registry, collected between 2014 and 2019, were used for this study. The primary outcomes were perinatal mortality and severe neonatal morbidity. Secondary outcomes included a risk factor analysis for perinatal mortality and severe neonatal morbidity. A total of 164 post-laser TAPS pregnancies were included, of which 92% (151/164) were diagnosed antenatally and 8% (13/164) postnatally. The median number of days between laser for TTTS and detection of TAPS was 14 (IQR: 7–28, range: 1–119). Antenatal management included expectant management in 43% (62/151), intrauterine transfusion with or without partial exchange transfusion in 29% (44/151), repeated laser surgery in 15% (24/151), selective feticide in 7% (11/151), delivery in 6% (9/151), and termination of pregnancy in 1% (1/151). The median gestational age (GA) at birth was 31.7 weeks (IQR: 28.6–33.7; range: 19.0–41.3). The perinatal mortality rate was 25% (83/327) for the total group, 37% (61/164) for donors, and 14% (22/163) for recipients (p < 0.001). Severe neonatal morbidity was detected in 40% (105/263) of the cohort and was similar for donors (43%; 51/118) and recipients (37%; 54/145), p = 0.568. Independent risk factors for spontaneous perinatal mortality were antenatal TAPS Stage 4 (OR = 3.4, 95%CI 1.4-26.0, p = 0.015), TAPS donor status (OR = 4.2, 95%CI 2.1–8.3, p < 0.001), and GA at birth (OR = 0.8, 95%CI 0.7–0.9, p = 0.001). Severe neonatal morbidity was significantly associated with GA at birth (OR = 1.5, 95%CI 1.3–1.7, p < 0.001). In conclusion, post-laser TAPS most often occurs within one month after laser for TTTS, but may develop up to 17 weeks after initial surgery. Management is mostly expectant, but varies greatly, highlighting the lack of consensus on the optimal treatment and heterogeneity of the condition. Perinatal outcome is poor, particularly due to the high rate of perinatal mortality in donor twins.
|
|
| 36. |
|
|
| 37. |
|
|
