| 1. |
- Walters, R G, et al.
(författare)
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 463:7281, s. 671-5
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Tidskriftsartikel (refereegranskat)abstract
- Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.
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| 2. |
- Yamamoto, S., et al.
(författare)
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Water adsorption on α-Fe2O3 (0001) at near ambient conditions
- 2010
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Ingår i: Journal of Physical Chemistry C. - : American Chemical Society (ACS). - 1932-7447 .- 1932-7455. ; 114:5, s. 2256-2266
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated hydroxylation and water adsorption on α Fe 2O3(0001) at water vapor pressures up to 2 Torr and temperatures ranging from 277 to 647 K (relative humidity (RH)
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| 3. |
- Bonnert, M., et al.
(författare)
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Internet-delivered cognitive behavior therapy for adolescents with functional gastrointestinal disorders - An open trial
- 2014
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Ingår i: Internet Interventions. - : Elsevier BV. - 2214-7829. ; 1:3, s. 141-148
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Tidskriftsartikel (refereegranskat)abstract
- Functional gastrointestinal disorders (FGID), including irritable bowel syndrome, functional dyspepsia and functional abdominal pain, are common in adolescents and are associated with substantially decreased quality of life. Cognitive behavior therapy for children and adolescents with FGID is one of few treatments that have shown effect, but treatment access is limited. In adults with irritable bowel syndrome, exposure-based internet-delivered CBT (ICBT) leads to reduced symptoms and increased quality of life, but studies in children are lacking. This open pilot aimed to evaluate feasibility and the potential efficacy of an exposure-based ICBT-program for adolescents with pain-predominant FGID. Twenty-nine adolescents (age 13-17), with FGID were included. The ICBT-program lasted for 8. weeks with weekly online therapist support. The protocol for adolescents included exposure to abdominal symptoms, while the protocol for parents aimed at increasing parents' attention to adolescent healthy behaviors. Assessment points were baseline, post-treatment and 6-month follow-up. The primary outcome was the Gastrointestinal Symptoms Rating Scale-IBS (GSRS-IBS). Effect sizes were calculated using Cohen's d in an intent to treat analysis. GSRS-IBS improved significantly from baseline to post-treatment (mean difference 6.48; 95% CI [2.37-10.58]) and to follow-up (mean difference 7.82; 95% CI [3.43-12.21]), corresponding to moderate effect sizes (within-group Cohen's d= 0.50; 95% CI [0.16-0.84] and d= 0.63; 95% CI [0.24-1.02], respectively). Treatment adherence was high with 22 of 29 (76%) adolescents completing the entire treatment period. High adherence indicates acceptability of format and content, while symptomatic improvement suggests potential efficacy for this ICBT intervention in adolescents with FGID. © 2014.
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| 5. |
- Andersson, Klas J., et al.
(författare)
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Preparation, Structure, and Orientation of Pyrite FeS2{100} Surfaces : Anisotropy, Sulfur Monomers, Dimer Vacancies, and a Possible FeS Surface Phase
- 2014
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Ingår i: The Journal of Physical Chemistry C. - : American Chemical Society (ACS). - 1932-7447 .- 1932-7455. ; 118:38, s. 21896-21903
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Tidskriftsartikel (refereegranskat)abstract
- Sulfur dimer (S-2(2-)) terminated pyrite FeS2{100} surfaces with a low energy electron diffraction (LEED) pattern of 2 x 1 symmetry are reported. The 2 X 1 symmetry correlates with the orientation of the anisotropic surface structure and external symmetry of macroscopic striations on the pyrite cube face. The basic condition to form these surfaces is a mild 200 V Ne+ sputter-cleaning procedure followed by a 570 K anneal of the sample in a 10(-7) Ton S-2(g) atmosphere. Controlled amounts of surface sulfur monomers (S2-) can be introduced by mild sputtering of the sulfur dimer terminated surfaces. At low monomer concentrations the surface displays the same characteristic 1 x 1 LEED pattern as that for fracture-generated surfaces. With increasing sulfur depletion, a (1/ root 2 x 1/ root 2)R45 degrees LEED pattern emerges, and soft X-ray photoelectron spectroscopy (XPS) results show a sulfur dinner deficient near-surface region and a new high binding energy sulfur spectral component suggesting the presence of local coordination environments where sulfur monomers are coordinated by four Fe ions compared to three as in the pyrite structure. The plausible formation of a defective FeS-like surface phase where monomeric sulfurs are coordinated by four Fe ions, and bond counting energetics favoring surface sulfur monomer recombination around Fe vacancy sites on pyrite FeS2{100}, both imply surface sulfur dimer vacancy sites with unique adsorption and reactivity properties. Taken together, our results suggest a very rich and dynamic defect structural landscape at pyrite FeS2{100} surfaces with direct implications for its surface chemical activity.
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| 6. |
- Andersson, Maria J. E., et al.
(författare)
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Self-image in adolescents with deliberate self-harm behavior
- 2013
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Ingår i: PsyCh Journal. - : John Wiley & Sons. - 2046-0252 .- 2046-0260. ; 2:3, s. 209-216
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Tidskriftsartikel (refereegranskat)abstract
- This study tested the hypothesis of a positive relation between deliberate self-harm and poor self-image in adolescents and investigated the relation between substance abuse (drugs, cigarettes, and alcohol) and deliberate self-harm. One-hundred thirteen highschool students, aged predominantly 16–18 years, responded to the 16-item version of the Deliberate Self-Harm Inventory, the 36-item Structural Analysis of Social Behavior, and single questions about use of drugs, cigarettes, and alcohol. The results showed a positiverelation between deliberate self-harm and poor self-image, and between deliberate self-harm and cigarette smoking and alcohol consumption.These results imply that poor self-image and a large extent of substance use may be markers for identifying adolescents at risk for deliberate self-harm.
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