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To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
In situ and ex situ SAXS investigation of colloidal sedimentation onto laterally patterned support
(2009)
We report on in situ investigations of colloidal ordering during gravity sedimentation from a colloidal suspension onto a prepatterned support using a polymeric surface relief grating (SRG) as the support. The ordering of colloids with a diameter of 420 nm was investigated by means of grazing-incidence small-angle X-ray scattering (GISAXS) and transmission SAXS using a preparation cell guaranteeing stable temperature and humidity. GISAXS was used for in situ monitoring of the time evolution of colloidal ordering within the whole illuminated sample area. The onset of ordering was indicated by the increase of integrated intensity within a small time frame shortly before complete evaporation of the dispersant. Single domains of coated samples were investigated ex situ by SAXS in transmission geometry where the irradiated sample area was 200 x 200 mu m(2) only. Domains with the typical size of a few millimeters were observed varying in orientation and crystallographic structure for various positions at the sample. They were mainly oriented along the grooves of the grating, confirming the influence of the underlying grating on colloidal ordering.
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
Background: Travel-related conditions have impact on the quality of oral anticoagulation therapy (OAT) with vitamin K-antagonists. No predictors for travel activity and for travel-associated haemorrhage or thromboembolic complications of patients on OAT are known.
Methods: A standardised questionnaire was sent to 2500 patients on long-term OAT in Austria, Switzerland and Germany. 997 questionnaires were received (responder rate 39.9%). Ordinal or logistic regression models with travel activity before and after onset of OAT or travel-associated haemorrhages and thromboembolic complications as outcome measures were applied.
Results: 43.4% changed travel habits since onset of OAT with 24.9% and 18.5% reporting decreased or increased travel activity, respectively. Long-distance worldwide before OAT or having suffered from thromboembolic complications was associated with reduced travel activity. Increased travel activity was associated with more intensive travel experience, increased duration of OAT, higher education, or performing patient self-management (PSM). Travel-associated haemorrhages or thromboennbolic complications were reported by 6.5% and 0.9% of the patients, respectively. Former thromboennbolic complications, former bleedings and PSM were significant predictors of travel-associated complications.
Conclusions: OAT also increases travel intensity. Specific medical advice prior travelling to prevent complications should be given especially to patients with former bleedings or thromboennbolic complications and to those performing PSM. (C) 2014 Elsevier Ltd. All rights reserved.
In this work, a nonaqueous method is used to fabricate thin TiO2 layers. In contrast to the common aqueous sol-gel approach, our method yields layers of anatase nanocrystallites already at low temperature. Raman spectroscopy, electron microscopy and charge extraction by linearly increasing voltage are employed to study the effect of sintering temperature on the structural and electronic properties of the nanocrystalline TiO2 layer. Raising the sintering temperature from 120 to 600 A degrees C is found to alter the chemical composition, the layer's porosity and its surface but not the crystal phase. The room temperature mobility increases from 2 x 10(-6) to 3 x 10(-5) cm(2)/Vs when the sinter temperature is increased from 400 to 600 A degrees C, which is explained by a better interparticle connectivity. Solar cells comprising such nanoporous TiO2 layers and a soluble derivative of cyclohexylamino-poly(p-phenylene vinylene) were fabricated and studied with regard to their structural and photovoltaic properties. We found only weak polymer infiltration into the oxide layer for sintering temperatures up to 550 A degrees C, while the polymer penetrated deeply into titania layers that were sintered at 600 A degrees C. Best photovoltaic performance was reached with a nanoporous TiO2 film sintered at 550 A degrees C, which yielded a power conversion efficiency of 0.5 %. Noticeably, samples with the TiO2 layer dried at 120 A degrees C displayed short-circuit currents and open circuit voltages only about 15-20 % lower than for the most efficient devices, meaning that our nonaqueous route yields titania layers with reasonable transport properties even at low sintering temperatures.