Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

BACKGROUND: Periodic catatonia is a familial subtype of schizophrenia characterized by hyperkinetic and akinetic episodes, followed by a catatonic residual syndrome. The phenotype has been evaluated in two independent genome-wide linkage scans with evidence for a major locus on chromosome 15q15, and a second independent locus on chromosome 22q(tel). METHODS: In the positional and brain-expressed candidate genes KIAA0767 and KIAA1646, we searched for variants in the complete exons and adjacent splice-junctions as well as in parts of the 5'- and 3'-untranslated regions by means of a systematic mutation screening in individuals from chromosome 22q-linked pedigrees. RESULTS: The mutation scan revealed 24 single nucleotide polymorphisms, among them two rare codon variants (KIAA0767: S159I; KIAA1646: V338G). However, both were neither found segregating with the disease in the respective pedigree nor found at a significant frequency in a case-control association sample. CONCLUSION: Starting from linkage signals at chromosome22q(tel )in periodic catatonia, we screened two positional brain-expressed candidate genes for genetic variation. Our study excludes genetic variations in the coding and putative promoter regions of KIAA0767 and KIAA1646 as causative factors for periodic catatonia

Cycloid psychoses: clinical symptomatology, prognosis, and heredity1

The development of the concept of cycloid psychoses goes back to the problem of “atypical psychoses” which arose from Kraepelin’s dichotomy of endogenous psychoses1. It concerned those forms of psychoses which could be assigned neither to dementia praecox nor to manic-depressive illness. One strategy for a solution of this problem was the broadening of the concept of schizophrenia as inaugurated by Bleuler (1911)2. Schizophrenia was then thought to include lots of clinical conditions with entirely different cross-sectional symptomatology, long-term course and outcome, thus considerably reducing the heuristic value of the diagnosis. Furthermore, reliable prognoses became impossible according to Bleuler’s concepts (table 1). Inevitably, the idea was generated that there might be a nosologically independent group of endogenous psychoses in addition to schizophrenias and manic-depressive illness. Based upon the previous work of Wernicke and Kleist3, Leonhard (1999)4 further established the concept of cycloid psychoses. Rejecting nosological hybridisation, the independency of these psychoses was emphasized. Representing one of the three main groups in his subdivision of psychoses with “schizophreniform” symptomatology, Leonhard meticulously elaborated on precise clinical diagnostic criteria for cycloid psychoses. In the current diagnostic manuals, those psychoses spread over various diagnostic entities like bipolar affective disorder, schizoaffective disorder, acute polymorphic psychotic disorder (ICD), brief psychotic disorder (DSM), or even schizophrenia, if 1st-rank symptoms are observed for more than one month

High-performance magnetic sensorics for printable and flexible electronics

High‐performance giant magnetoresistive (GMR) sensorics are realized, which are printed at predefined locations on flexible circuitry. Remarkably, the printed magnetosensors remain fully operational over the complete consumer temperature range and reveal a giant magnetoresistance up to 37% and a sensitivity of 0.93 T−1 at 130 mT. With these specifications, printed magnetoelectronics can be controlled using flexible active electronics for the realization of smart packaging and energy‐efficient switches

Perfectionism, achievement motives, and attribution of success and failure in female soccer players

While some researchers have identified adaptive perfectionism as a key characteristic to achieving elite performance in sport, others see perfectionism as a maladaptive characteristic that undermines, rather than helps, athletic performance. Arguing that perfectionism in sport contains both adaptive and maladaptive facets, the present article presents a study of N 5 74 female soccer players investigating how two facets of perfectionism—perfectionistic strivings and negative reactions to imperfection (Stoeber, Otto, Pescheck, Becker, & Stoll, 2007)—are related to achievement motives and attributions of success and failure. Results show that striving for perfection was related to hope of success and self-serving attributions (internal attribution of success). Moreover, once overlap between the two facets of perfectionism was controlled for, striving for perfection was inversely related to fear of failure and self-depreciating attributions (internal attribution of failure). In contrast, negative reactions to imperfection were positively related to fear of failure and self-depreciating attributions (external attribution of success) and inversely related to self-serving attributions (internal attribution of success and external attribution of failure). It is concluded that striving for perfection in sport is associated with an adaptive pattern of positive motivational orientations and self-serving attributions of success and failure, which may help athletic performance. In contrast, negative reactions to imperfection are associated with a maladaptive pattern of negative motivational orientations and self-depreciating attributions, which is likely to undermine athletic performance. Consequently, perfectionism in sport may be adaptive in those athletes who strive for perfection, but can control their negative reactions when performance is less than perfect

Is Ankyrin a genetic risk factor for psychiatric phenotypes?

Background Genome wide association studies reported two single nucleotide polymorphisms in ANK3 (rs9804190 and rs10994336) as independent genetic risk factors for bipolar disorder. Another SNP in ANK3 (rs10761482) was associated with schizophrenia in a large European sample. Within the debate on common susceptibility genes for schizophrenia and bipolar disorder, we tried to investigate common findings by analyzing association of ANK3 with schizophrenia, bipolar disorder and unipolar depression. Methods We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs10994336, and rs10761482) in a case-control sample of German descent including 920 patients with schizophrenia, 400 with bipolar affective disorder, 220 patients with unipolar depression according to ICD 10 and 480 healthy controls. Sample was further differentiated according to Leonhard's classification featuring disease entities with specific combination of bipolar and psychotic syndromes. Results We found no association of rs9804190 and rs10994336 with bipolar disorder, unipolar depression or schizophrenia. In contrast to previous findings rs10761482 was associated with bipolar disorder (p = 0.015) but not with schizophrenia or unipolar depression. We observed no association with disease entities according to Leonhard's classification. Conclusion Our results support a specific genetic contribution of ANK3 to bipolar disorder though we failed to replicate findings for schizophrenia. We cannot confirm ANK3 as a common risk factor for different diseases

Influence of the initial chemical conditions on the rational design of silica particles

The influence of the water content in the initial composition on the size of silica particles produced using the Stöber process is well known. We have shown that there are three morphological regimes defined by compositional boundaries. At low water levels (below stoichiometric ratio of water:tetraethoxysilane), very high surface area and aggregated structures are formed; at high water content (>40 wt%) similar structures are also seen. Between these two boundary conditions, discrete particles are formed whose size are dictated by the water content. Within the compositional regime that enables the classical Stöber silica, the structural evolution shows a more rapid attainment of final particle size than the rate of formation of silica supporting the monomer addition hypothesis. The clearer understanding of the role of the initial composition on the output of this synthesis method will be of considerable use for the establishment of reliable reproducible silica production for future industrial adoption

Perfectionism and achievement goals in young Finnish ice-hockey players aspiring to make the Under-16 national team

Research on perfectionism suggests that is it useful to differentiate between perfectionistic strivings and perfectionistic concerns. Regarding the 2 x 2 achievement goal framework, the usefulness of this differentiation was recently demonstrated in a study with university student athletes (Stoeber, Stoll, Pescheck, & Otto, 2008, Study 2), in which it was found that perfectionistic strivings were associated with mastery-approach and performance-approach goals and perfectionistic concerns with mastery-avoidance, performance-approach, and performance-avoidance goals. Because the study was largely exploratory and only used non-elite athletes, the aim of the present research was to replicate and extend these findings by investigating a sample of 138 young, elite ice-hockey players, while adding further measures of perfectionism and using structural equation modelling (SEM) to confirm the relationships between perfectionistic strivings, perfectionistic concerns,and the 2 x 2 achievement goals. The SEM results showed that, in elite athletes also, perfectionistic strivings are associated with mastery-approach and performance-approach goals, whereas perfectionistic concerns are associated with masteryavoidance, performance-approach, and performance-avoidance goals. Our findings corroborate the importance of differentiating between perfectionistic strivings and perfectionistic concerns when studying perfectionism in sports, because only perfectionistic concerns (and not perfectionistic strivings) are associated with maladaptive patterns of achievement goals

What happens if you single out? An experiment

We present an experiment investigating the effects of singling out an individual on trust and trustworthiness. We find that (a) trustworthiness falls if there is a singled out subject; (b) non-singled out subjects discriminate against the singled out subject when they are not responsible of the distinct status of this person; (c) under a negative frame, the singled out subject returns significantly less; (d) under a positive frame, the singled out subject behaves bimodally, either selecting very low or very high return rates. Overall, singling out induces a negligible effect on trust but is potentially disruptive for trustworthiness

Effect of Nanoparticle Size on the Morphology of Adsorbed Surfactant Layers

The surface aggregates structure of dimethyldodecylamine-N-oxide (C12DAO) in three silica dispersions of different particle sizes (16 - 42 nm) was studied by small-angle neutron scattering (SANS) in a H2O/D2O solvent mixture matching the silica. At the experimental conditions (pH 9) the surfactant exists in its nonionic form and the structure of the adsorbed layer is not affected by added electrolyte. It is found that C12DAO forms spherical surface micelles of 2 nm diameter on the 16 nm silica particles, but oblate ellipsoidal surface micelles are formed on the 27 and 42 nm particles. The dimensions of these oblate surface aggregates (minor and major semi-axes Rn and Rlat) are similar to those of C12DAO micelles in the aqueous solutions. It is concluded that the morphological transition from spherical to ellipsoidal surface aggregates is induced by the surface curvature of the silica particles. A comparison of the shape and dimensions of the surface aggregates formed by C12DAO and C12E5 on the 16 nm silica particles demonstrates that the nature of the surfactant head group does not determine the morphology of the surface aggregates, but has a strong influence on the number of surface aggregates per particle, due to the different interactions of the head groups with the silica surface