Defective Self and/or Other Mentalising in Schizophrenia: A Cognitive Neuropsychological Approach

The mentalising abilities of schizophrenic patients and normal controls were tested using picture sequencing and story-telling tasks that required subjects to infer causal mental states in story characters, and a recall task that required subjects to dissociate subjective mental states from objective realities. Selective mentalising deficits were found in some patients. For other patients, general sequencing errors, “sensory” mentalising, and poor recall of symbolic representations suggested more profound problems. Task results were best accounted for by dissociable cognitive abnormalities, rather than graded dysfunction of a central mentalising mechanism. Symptom profiles of patient subgroups and correlations between task measures and clinical ratings linked these cognitive abnormalities to specific symptoms. General sequencing difficulty was associated with both poverty symptoms and reality distortion, suggesting that two mechanisms may underpin such errors: one, inability to manipulate symbolic representations, being linked to poverty; the other, failure to critically evaluate plausible cause-and-effect, being linked to reality distortion. There was some evidence that defective self-monitoring underpins thought disorder. Impaired metarepresentation was linked to the autisticlike symptoms of flat affect, social dysfunction, and alogia, rather than reality distortion. Implications of these findings are discussed with respect to theoretical and methodological issues confronting current schizophrenia research.     

New predictors of outcome in idiopathic pulmonary arterial hypertension

Idiopathic pulmonary arterial hypertension (PAH) is a rare disease with a poor prognosis. New therapies have improved the outcome of this condition; accordingly, the factors that determine outcome may have changed. We aimed to identify determinants of survival in a cohort of consecutive patients with PAH: which was idiopathic, familial, or associated with anorexigen use. We performed a retrospective cohort study of 84 consecutive patients with PAH who underwent initial evaluation at our center from January 1994 to June 2002. The primary outcome was death or lung transplantation. Survival at 1, 3, and 5 [corrected] years was 87%, 75%, and 61%, respectively. Multivariate analysis showed that being of African-American or Asian descent was associated with an increased risk of death. Warfarin use was associated with a reduced risk of death. Higher serum albumin and cardiac index and acute vasoreactivity were independently associated with improved survival. These data suggest that the determinants of outcome have changed. Race is identified as a new risk factor, which may be attributable to biologic or socioeconomic differences. Cardiac function and acute reactivity of the pulmonary vascular bed remain strong independent predictors of outcome.     

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC,PAX6 and CYP1B1

Developmental eye diseases, including cataract/microcornea, Peters anomaly and coloboma/microphthalmia/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye. All modes of Mendelian inheritance occur and many are sporadic cases, so provision of accurate recurrence risk information for families and affected individuals is highly challenging. Extreme genetic heterogeneity renders testing for all known disease genes clinically unavailable with traditional methods. We used whole-exome sequencing in 11 unrelated developmental eye disease patients, as it provides a strategy for assessment of multiple disease genes simultaneously. We identified five causative variants in four patients in four different disease genes, GJA8, CRYGC, PAX6 and CYP1B1. This detection rate (36%) is high for a group of patients where clinical testing is frequently not undertaken due to lack of availability and cost. The results affected clinical management in all cases. These variants were detected in the cataract/microcornea and Peters anomaly patients. In two patients with coloboma/microphthalmia, variants in ABCB6 and GDF3 were identified with incomplete penetrance, highlighting the complex inheritance pattern associated with this phenotype. In the coloboma/microphthalmia patients, four other variants were identified in CYP1B1, and CYP1B1 emerged as a candidate gene to be considered as a modifier in coloboma/microphthalmia.     

Addressing elder abuse through integrating law into health: What do allied health professionals at a Community Health Service in Melbourne,Australia, think?

This research looked at the attitudes of Community Health Service (CHS) staff regarding the integration of a lawyer into their CHS both before and after the integration occurred. It assessed their confidence in identifying and addressing elder abuse at each point. A written survey was distributed to staff before the lawyer commenced (n = 126), and approximately 12 months afterwards (n = 54). The preliminary survey demonstrated widespread agreement that legal issues can affect older people and supported having a lawyer in a CHS. Respondents were not confident about their capacity to identify abuse and provide referrals to a lawyer, but this improved in the follow‐up survey. These CHS staff were aware of the potential impacts of elder abuse and supported embedding a lawyer in the health service. Information and training as part of this service model should focus on the skills needed for CHS staff to play their role in such a partnership.