Genetic association signal near NTN4 in Tourette syndrome

Tourette syndrome (TS) is a neurodevelopmental disorder with a complex genetic etiology. Through an international collaboration, we genotyped 42 single nucleotide polymorphisms (p < 10⁻³) from the recent TS genomewide association study (GWAS) in 609 independent cases and 610 ancestry‐matched controls. Only rs2060546 on chromosome 12q22 (p = 3.3 × 10⁻⁴) remained significant after Bonferroni correction. Meta‐analysis with the original GWAS yielded the strongest association to date (p = 5.8 × 10⁻⁷). Although its functional significance is unclear, rs2060546 lies closest to NTN4, an axon guidance molecule expressed in developing striatum. Risk score analysis significantly predicted case–control status (p = 0.042), suggesting that many of these variants are true TS risk alleles. Ann Neurol 2014;76:310–315     

Factors Predicting Long-Term Survival Following Pancreatic Resection for Ductal Adenocarcinoma of the Pancreas: 40 Years of Experience

Background

Long-term survival after resection for pancreas carcinoma has rarely been reported. Factors influencing long-term survival are still under debate. The aim of this study was to define predictors for long-term survival.

Methods

Between 1972 and 2004, a total of 415 patients underwent resection. Data were collected in a prospective data base. Data of 360 patients were available for further analysis in 2011. All specimens of long-term survivors were histologically reviewed.

Results

Long-term survivors (n?=?69) had a median survival of 91 months. Pathological re-evaluation of all specimens re-confirmed the diagnosis. Predictive factors for long-term survival in univariate analysis were no preoperative biliary stent, low CA 19-9 level, lack of blood transfusion, R0 resection, tumour diameter, and -grading, absence of lymph node or distant metastases, lymphangiosis, and perineural infiltration. Adjuvant chemotherapy showed a significant influence on overall survival but not on long-term survival. In multivariate analysis, lymph node ratio and volume of blood transfusion were predictors of long-term survival.

Conclusion

Nearly 20 % of patients with pancreas carcinoma who undergo surgical resection have a chance of long-term survival. Survival beyond 5 years is predicted by clinical and tumour-specific factors. Adjuvant chemotherapy might prolong overall survival but is, according to these results, unable to contribute to long-term survival. There is still a risk of recurrence after a 5- or even a 12-year mark. Survival beyond 5 or even 12 years, therefore, does not assure cure.     

Cell and chloroplast division requires ARTEMIS

Chloroplasts are endosymbiotic organelles of cyanobacterial origin. It seems reasonable to assume that cell division and organelle division still share general principles, as shown for the FtsZ proteins. However, further components involved in this process are largely unknown. Here we describe ARTEMIS, a nuclear-encoded protein of chloroplast inner envelope membranes that is required for organelle division. ARTEMIS consists of three distinct modules: an N-terminal receptor-like region, a centrally positioned glycine-rich stretch containing a nucleoside triphosphate-binding site, and a C-terminal YidC/Oxa1p/Alb3 protein translocase-like domain. Analysis of Arabidopsis En-1 transposon mutants as well as ARTEMIS antisense plants revealed chloroplasts arrested in the late stages of division. Chloroplasts showed clearly separated and distinct multiple thylakoid systems, whereas the final organelle fission remained unaccomplished. Inactivation of a cyanobacterial gene with sequence similarity to the YidC/Oxa1p/Alb3-like domain of ARTEMIS resulted in aberrant cell division, which could be rescued by the Arabidopsis protein. ARTEMIS represents a so-far-unrecognized link between prokaryotic cell fission and chloroplast division.     

Facial emotion recognition in adolescents with personality pathology

It has been argued that a heightened emotional sensitivity interferes with the cognitive processing of facial emotion recognition and may explain the intensified emotional reactions to external emotional stimuli of adults with personality pathology, such as borderline personality disorder (BPD). This study examines if and how deviations in facial emotion recognition also occur in adolescents with personality pathology. Forty-two adolescents with personality pathology, 111 healthy adolescents and 28 psychiatric adolescents without personality pathology completed the Emotion Recognition Task, measuring their accuracy and sensitivity in recognizing positive and negative emotion expressions presented in several, morphed, expression intensities. Adolescents with personality pathology showed an enhanced recognition accuracy of facial emotion expressions compared to healthy adolescents and clients with various Axis-I psychiatric diagnoses. They were also more sensitive to less intensive expressions of emotions than clients with various Axis-I psychiatric diagnoses, but not more than healthy adolescents. As has been shown in research on adults with BPD, adolescents with personality pathology show enhanced facial emotion recognition.     

Modeling life satisfaction in spinal cord injury: the role of psychological resources

Purpose

The aims of the study were (1) to examine the associations between the psychological resources general self-efficacy (GSE) and purpose in life (PIL), appraisals, coping and life satisfaction, and (2) to examine whether the effects of the psychological resources on life satisfaction are mediated by appraisals and coping, as proposed by the spinal cord injury adjustment model (SCIAM).

Methods

Cross-sectional multicenter study conducted with persons with spinal cord injury (SCI) living in the community in Switzerland (N = 516). Pearson’s correlations were calculated for aim 1, and structural equation modeling was conducted to address aim 2.

Results

GSE (r = .48) and PIL (r = .58) were positively related to life satisfaction. The initial model corresponding to the SCIAM yielded a poor model fit. The final model had a good model fit [χ ² = 66.0, df = 21, p < .01, RMSEA = .065 (90 % confidence interval .048–.082), CFI = .97] explaining 57 % of variance of life satisfaction. PIL had a direct large effect on life satisfaction (β = .54). The influence of GSE on life satisfaction was mediated by loss appraisals. Avoidance, active and humor coping had small effects on life satisfaction.

Conclusions

Psychological resources have a substantial effect on life satisfaction in persons with SCI. Our results correspond with the SCIAM and its conceptualization of adjustment as a multifactorial process, but did not fully support the hypothesized mediation. PIL was strongly related to higher life satisfaction and may be a suitable intervention target to support persons with SCI.