| 1121. |
- O'Seaghdha, Conall M., et al.
(författare)
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Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations
- 2013
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Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 9:9, s. e1003796-
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Tidskriftsartikel (refereegranskat)abstract
- Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based cohorts and investigated the 14 most strongly associated loci in <= 21,679 additional individuals. Seven loci (six new regions) in association with serum calcium were identified and replicated. Rs1570669 near CYP24A1 (P = 9.1E-12), rs10491003 upstream of GATA3 (P = 4.8E-09) and rs7481584 in CARS (P = 1.2E-10) implicate regions involved in Mendelian calcemic disorders: Rs1550532 in DGKD (P = 8.2E-11), also associated with bone density, and rs7336933 near DGKH/KIAA0564 (P = 9.1E-10) are near genes that encode distinct isoforms of diacylglycerol kinase. Rs780094 is in GCKR. We characterized the expression of these genes in gut, kidney, and bone, and demonstrate modulation of gene expression in bone in response to dietary calcium in mice. Our results shed new light on the genetics of calcium homeostasis.
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| 1122. |
- Ou, Anna H., et al.
(författare)
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Lithium response in bipolar disorder is associated with focal adhesion and PI3K-Akt networks: a multi-omics replication study
- 2024
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Ingår i: TRANSLATIONAL PSYCHIATRY. - 2158-3188. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Lithium is the gold standard treatment for bipolar disorder (BD). However, its mechanism of action is incompletely understood, and prediction of treatment outcomes is limited. In our previous multi-omics study of the Pharmacogenomics of Bipolar Disorder (PGBD) sample combining transcriptomic and genomic data, we found that focal adhesion, the extracellular matrix (ECM), and PI3K-Akt signaling networks were associated with response to lithium. In this study, we replicated the results of our previous study using network propagation methods in a genome-wide association study of an independent sample of 2039 patients from the International Consortium on Lithium Genetics (ConLiGen) study. We identified functional enrichment in focal adhesion and PI3K-Akt pathways, but we did not find an association with the ECM pathway. Our results suggest that deficits in the neuronal growth cone and PI3K-Akt signaling, but not in ECM proteins, may influence response to lithium in BD.
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| 1123. |
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| 1124. |
- Paul, Jan, et al.
(författare)
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Carbon dioxide activation and alkali compound formation. I : Vibrational characterization of oxalate intermediates
- 2003
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Ingår i: Surface Science. - 0039-6028 .- 1879-2758. ; 531:3, s. 244-264
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Tidskriftsartikel (refereegranskat)abstract
- The activation of CO2 in thin potassium layers adsorbed on Cu(1 1 1) has been studied with time-evolved Fourier transform-infrared reflection absorption spectroscopy. The growth of thin layers by reactive evaporation of potassium in a CO2 atmosphere permits control of the K:CO2 stoichiometry, which strongly affects the selectivity in the formation of intermediates and the decomposition pathways of the layer. Layers grown in a CO2 rich atmosphere exhibit the preferential growth of stoichiometric potassium oxalate K2C2O4 (D2h). The molecular identity of oxalate with D2h symmetry is confirmed by vibrational spectra utilizing isotopic substitution methods (13CO2 and C18O2) and by the use of isotopic mixtures of CO2/C18O2 and CO2/13CO2. A comparison of the isotope data with theoretical calculations gives an estimated OCO bond angle in oxalate of 132°. Far-IR spectra obtained with synchrotron radiation indicate the equivalent interaction of all oxygen atoms with the potassium. A comparison of the vibrational data with theoretical ab initio calculations confirms the structural model of an oxalate species that is bulk coordinated with no strong directional bonding and all oxygen atoms equally interacting with potassium. At medium and low CO2:K ratios, very complex vibrational spectra are observed, indicating the formation of an oxalate surface species with C2v symmetry in addition to D2h- oxalate, CO2- and CO22- species.
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| 1125. |
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| 1126. |
- Pereira, Manuel P, et al.
(författare)
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Chronic Nodular Prurigo : A European Cross-sectional Study of Patient Perspectives on Therapeutic Goals and Satisfaction
- 2021
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 1651-2057. ; 101
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Tidskriftsartikel (refereegranskat)abstract
- Chronic nodular prurigo is characterized by recalcitrant itch. Patient perspectives on therapeutic goals, satisfaction with therapy and efficacy of therapeutic regimens for this condition are unknown. This questionnaire study examined these issues in 406 patients with chronic nodular prurigo from 15 European dermatological centres. Improvements in itch, skin lesions and sleep were the most important goals. Emollients, topical corticosteroids and antihistamines were the most frequently used treatments, while a minority of patients were prescribed potent medications, such as systemic immunosuppressants and gabapentinoids. Most patients were not satisfied with their previous therapy (56.8%), while 9.8% did not receive any therapy despite having active disease. A substantial number of respondents (28.7%) considered none of the therapeutic options effective. Although chronic nodular prurigo is a severe disease, most patients were not treated with potent systemic drugs, which may contribute to the high levels of dissatisfaction and disbelief in available therapies. Specific guidelines for chronic nodular prurigo and the development of novel therapies are necessary to improve care.
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| 1127. |
- Pereira, M. P., et al.
(författare)
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Chronic nodular prurigo : clinical profile and burden. A European cross-sectional study
- 2020
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Ingår i: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959 .- 1468-3083. ; 34:10, s. 2373-2383
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Tidskriftsartikel (refereegranskat)abstract
- Background: Chronic nodular prurigo (CNPG) is a condition characterized by chronic itch, a prolonged scratching behaviour and the presence of pruriginous nodules. A comprehensive understanding of this condition, especially regarding its clinical characteristics and impact on quality of life is still lacking. Objectives: Aim of this pan-European multicentre cross-sectional study was to establish the clinical profile of CNPG, including its associated burden. Methods: Fifteen centres from 12 European countries recruited CNPG patients presenting at the centre or using the centres' own databases. Patients were asked to complete a questionnaire in paper or electronic format. Demography, current co-morbidities, underlying disease, itch intensity, additional sensory symptoms, quality of life, highest burden and emotional experience of itch were assessed. Results: A total of 509 patients (210 male, median age: 64 years [52; 72]) were enrolled. Of these, 406 reported itch and CNPG lesions in the previous 7 days and qualified to complete the whole questionnaire. We recorded moderate to severe worst itch intensity scores in the previous 24 h. Scores were higher in patients with lower educational levels and those coming from Eastern or Southern Europe. Most patients experience itch often or always (71%) and report that their everyday life is negatively affected (53%). Itch intensity was considered to be the most burdensome aspect of the disease by 49% of the patients, followed by the visibility of skin lesions (21%) and bleeding of lesions (21%). The majority of patients was unaware of an underlying condition contributing to CNPG (64%), while psychiatric diseases were the conditions most often mentioned in association with CNPG (19%). Conclusions: This multicentre cross-sectional study shows that itch is the dominant symptom in CNPG and reveals that the profile of the disease is similar throughout Europe.
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| 1128. |
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| 1129. |
- Plug, Iris, et al.
(författare)
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Socioeconomic inequalities in mortality from conditions amenable to medical interventions : do they reflect inequalities in access or quality of health care?
- 2012
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Ingår i: BMC Public Health. - : Springer Science and Business Media LLC. - 1471-2458. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundPrevious studies have reported large socioeconomic inequalities in mortality from conditions amenable to medical intervention, but it is unclear whether these can be attributed to inequalities in access or quality of health care, or to confounding influences such as inequalities in background risk of diseases. We therefore studied whether inequalities in mortality from conditions amenable to medical intervention vary between countries in patterns which differ from those observed for other (non-amenable) causes of death. More specifically, we hypothesized that, as compared to non-amenable causes, inequalities in mortality from amenable causes are more strongly associated with inequalities in health care use and less strongly with inequalities in common risk factors for disease such as smoking.MethodsCause-specific mortality data for people aged 30–74 years were obtained for 14 countries, and were analysed by calculating age-standardized mortality rates and relative risks comparing a lower with a higher educational group. Survey data on health care use and behavioural risk factors for people aged 30–74 years were obtained for 12 countries, and were analysed by calculating age-and sex-adjusted odds ratios comparing a low with a higher educational group. Patterns of association were explored by calculating correlation coefficients.ResultsIn most countries and for most amenable causes of death substantial inequalities in mortality were observed, but inequalities in mortality from amenable causes did not vary between countries in patterns that are different from those seen for inequalities in non-amenable mortality. As compared to non-amenable causes, inequalities in mortality from amenable causes are not more strongly associated with inequalities in health care use. Inequalities in mortality from amenable causes are also not less strongly associated with common risk factors such as smoking.ConclusionsWe did not find evidence that inequalities in mortality from amenable conditions are related to inequalities in access or quality of health care. Further research is needed to find the causes of socio-economic inequalities in mortality from amenable conditions, and caution should be exercised in interpreting these inequalities as indicating health care deficiencies.
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| 1130. |
- Pramanik, P., et al.
(författare)
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Neutron diffraction evidence for local spin canting, weak Jahn-Teller distortion, and magnetic compensation in Ti1-xMnxCo2O4 spinel
- 2020
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Ingår i: Journal of Physics. - : IOP PUBLISHING LTD. - 0953-8984 .- 1361-648X. ; 32:24
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Tidskriftsartikel (refereegranskat)abstract
- A systematic study using neutron diffraction and magnetic susceptibility is reported on Mn substituted ferrimagnetic inverse spinel Ti1-xMnxCo2O4 in the temperature interval 1.6 K T 300 K. Our neutron diffraction study reveals cooperative distortions of the TO6 octahedra in the Ti1-xMnxCo2O4 system for all the Jahn-Teller active ions T = Mn3+ , Ti3+ and Co3+ , having the electronic configurations 3d(1), 3d(4) and 3d(6), respectively which are confirmed by the x-ray photoelectron spectroscopy. Two specific compositions (x = 0.2 and 0.4) have been chosen in this study because these two systems show unique features such as; (i) noncollinear Yafet-Kittel type magnetic ordering, and (ii) weak tetragonal distortion with c/a < 1, in which the apical bond length d(c)(T-B-O) is longer than the equatorial bond length d(ab)(T-B-O) due to the splitting of the e(g) level of Mn3+ ions into and . For the composition x = 0.4, the distortion in the TBO6 octahedra is stronger as compared to x = 0.2 because of the higher content of trivalent Mn. Ferrimagnetic ordering in Ti0.6Mn0.4Co2O4 and Ti0.8Mn0.2Co2O4 sets in at 110.3 and 78.2 K, respectively due to the presence of unequal magnetic moments of cations, where Ti3+ , Mn3+ , and Co3+ occupy the octahedral, whereas, Co2+ sits in the tetrahedral site. For both compounds an additional weak antiferromagnetic component could be observed lying perpendicular to the ferrimagnetic component. The analysis of static and dynamic magnetic susceptibilities combined with the heat-capacity data reveals a magnetic compensation phenomenon (MCP) at T-COMP = 25.4 K in Ti0.8Mn0.2Co2O4 and a reentrant spin-glass behaviour in Ti0.6Mn0.4Co2O4 with a freezing temperature of 110.1 K. The MCP in this compound is characterized by sign reversal of magnetization and bipolar exchange bias effect below T-COMP with its magnitude depending on the direction of external magnetic field and the cooling protocol.
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