The genetics of situs inversus without primary ciliary dyskinesia

Situs inversus (SI), a left-right mirror reversal of the visceral organs, can occur with recessive Primary Ciliary Dyskinesia (PCD). However, most people with SI do not have PCD, and the etiology of their condition remains poorly studied. We sequenced the genomes of 15 people with SI, of which six had PCD, as well as 15 controls. Subjects with non-PCD SI in this sample had an elevated rate of left-handedness (five out of nine), which suggested possible developmental mechanisms linking brain and body laterality. The six SI subjects with PCD all had likely recessive mutations in genes already known to cause PCD. Two non-PCD SI cases also had recessive mutations in known PCD genes, suggesting reduced penetrance for PCD in some SI cases. One non-PCD SI case had recessive mutations in PKD1L1, and another in CFAP52 (also known as WDR16). Both of these genes have previously been linked to SI without PCD. However, five of the nine non-PCD SI cases, including three of the left-handers in this dataset, had no obvious monogenic basis for their condition. Environmental influences, or possible random effects in early development, must be considered

The weeping behavior in anorexic and bulimic females

Background: The aim of the study was to examine the proneness, the functions and triggering situations of weeping in anorexic and bulimic women. Methods: Participants were 36 anorexic and 31 bulimic female patients and 56 age-matched female controls. All women completed the Questionnaire on Adult Crying. We limited our study to results on 'crying proneness', 'functions of crying' and 'determining factors of crying'. Results: Bulimic patients reported to have cried significantly more often in the last 4 weeks, to be more likely to cry in situations of distress and to have used weeping significantly more often as a manipulative behavior than control women. Anorexic patients rated their tendency to cry significantly lower and experienced weeping as significantly more negative than controls. Conclusions: Compared to control women, anorexic patients associated weeping with negative feelings as opposed to bulimic patients who appeared to use weeping on an intentional basis. These deviations from control women seem to mirror the introvert character of anorexic patients and the extrovert impulsive personality of patients with bulimia nervosa, respectively.

Nuclear spins, magnetic moments and quadrupole moments of Cu isotopes from N = 28 to N = 46: probes for core polarization effects

Measurements of the ground-state nuclear spins, magnetic and quadrupole moments of the copper isotopes from 61Cu up to 75Cu are reported. The experiments were performed at the ISOLDE facility, using the technique of collinear laser spectroscopy. The trend in the magnetic moments between the N=28 and N=50 shell closures is reasonably reproduced by large-scale shell-model calculations starting from a 56Ni core. The quadrupole moments reveal a strong polarization of the underlying Ni core when the neutron shell is opened, which is however strongly reduced at N=40 due to the parity change between the $pf$ and $g$ orbits. No enhanced core polarization is seen beyond N=40. Deviations between measured and calculated moments are attributed to the softness of the 56Ni core and weakening of the Z=28 and N=28 shell gaps.Comment: 13 pagers, 19 figures, accepted by Physical Review

Women, anger, and aggression an interpretative phenomenological analysis

This study reports a qualitative phenomenological investigation of anger and anger-related aggression in the context of the lives of individual women. Semistructured interviews with five women are analyzed using interpretative phenomenological analysis. This inductive approach aims to capture the richness and complexity of the lived experience of emotional life. In particular, it draws attention to the context-dependent and relational dimension of angry feelings and aggressive behavior. Three analytic themes are presented here: the subjective experience of anger, which includes the perceptual confusion and bodily change felt by the women when angry, crying, and the presence of multiple emotions; the forms and contexts of aggression, paying particular attention to the range of aggressive strategies used; and anger as moral judgment, in particular perceptions of injustice and unfairness. The authors conclude by examining the analytic observations in light of phenomenological thinking

The effects of graded motor imagery and its components on chronic pain: A systematic review and meta-analysis

This is the post-print version of the final paper published in The Journal of Pain. The published article is available from the link below. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. Copyright @ 2013 The American Pain Society.Graded motor imagery (GMI) is becoming increasingly used in the treatment of chronic pain conditions. The objective of this systematic review was to synthesize all evidence concerning the effects of GMI and its constituent components on chronic pain. Systematic searches were conducted in 10 electronic databases. All randomized controlled trials (RCTs) of GMI, left/right judgment training, motor imagery, and mirror therapy used as a treatment for chronic pain were included. Methodological quality was assessed using the Cochrane risk of bias tool. Six RCTs met our inclusion criteria, and the methodological quality was generally low. No effect was seen for left/right judgment training, and conflicting results were found for motor imagery used as stand-alone techniques, but positive effects were observed for both mirror therapy and GMI. A meta-analysis of GMI versus usual physiotherapy care favored GMI in reducing pain (2 studies, n = 63; effect size, 1.06 [95% confidence interval, .41, 1.71]; heterogeneity, I2 = 15%). Our results suggest that GMI and mirror therapy alone may be effective, although this conclusion is based on limited evidence. Further rigorous studies are needed to investigate the effects of GMI and its components on a wider chronic pain population.NHMR

Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers

AbstractFragile X–associated tremor/ataxia syndrome (FXTAS) is a late-onset movement disorder associated with FMR1 premutation alleles. Asymptomatic premutation (aPM) carriers have preserved cognitive functions, but they present subtle executive deficits. Current efforts are focusing on the identification of specific cognitive markers that can detect aPM carriers at higher risk of developing FXTAS. This study aims at evaluating verbal memory and executive functions as early markers of disease progression while exploring associated brain structure changes using diffusion tensor imaging. We assessed 30 aPM men and 38 intrafamilial controls. The groups perform similarly in the executive domain except for decreased performance in motor planning in aPM carriers. In the memory domain, aPM carriers present a significant decrease in verbal encoding and retrieval. Retrieval is associated with microstructural changes of the white matter (WM) of the left hippocampal fimbria. Encoding is associated with changes in the WM under the right dorsolateral prefrontal cortex, a region implicated in relational memory encoding. These associations were found in the aPM group only and did not show age-related decline. This may be interpreted as a neurodevelopmental effect of the premutation, and longitudinal studies are required to better understand these mechanisms