Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin

The objective of this study was to determine the prevalence of hereditary ataxias in Cuba, with a special focus on the clinical and molecular features of SCA2. Clinical assessments were performed by neurological examinations and application of the SARA scale. Molecular analyses of genes SCA1–3, SCA6, SCA17 and DRPLA identified 753 patients with SCA and 7173 asymptomatic relatives, belonging to 200 unrelated families. 86.79% of all SCA patients were affected with SCA2. In the Holguin province, the average population prevalence of SCA2 is 40.18 × 10⁵ inhabitants, with the remarkable figure of 141.66 × 10⁵ in the Baguanos municipality. The high prevalence of the SCA2 mutation in Holguin reflects most likely a founder effect. The stabilization of the prevalence along time suggests the existence of premutated chromosomes with pure CAG, acting as reservoir for further expansions. CAG repeat length correlated inversely with age at onset, accounting for 80% of the variability. Genetic anticipation was observed in the 80% of transmissions. Repeat instability was greater in paternal transmissions whereas CAG expansions without anticipation was observed in 10.97% suggesting the effect of CAA interruptions in the CAG segment, which decrease the toxicity of the abnormal ataxin-2, and/or other protective factors.     

Innovative moments and change pathways: A good outcome case of narrative therapy

Objectives. Our aim was to explore the development of innovative moments (i‐moments) in therapeutic conversation and to study how they match our heuristic model that accounts for the development of change, drawn from previous empirical research. Design. In this therapeutic process research, we analysed a good outcome case of narrative therapy with a woman victim of intimate violence. Methods. This case, composed of 12 sessions, was analysed with the Innovative Moments Coding System: Version 1. This coding system allowed the identification of five different types of innovations (i‐moments) that appeared during the therapeutic process: action, reflection, protest, re‐conceptualization, and performing change. For each session, an index of temporal salience was computed, as the percentage of the time in the session that client and therapist spent talking about each i‐moment. Our analysis procedures provided a quantitative and also a complementary qualitative approach. Results. Data showed that the types of i‐moments emerged differently throughout the process. Early sessions were characterized mainly by action and reflection (low temporal salience), middle sessions were found to have mainly protest i‐moments (low or middle temporal salience), and final sessions were characterized by the combination of high salient re‐conceptualization and performing change i‐moments. Conclusions. Findings suggested that narrative change seems to develop in a cyclical way, in which different types of i‐moments contribute to the development of a new self‐narrative in different phases.     

Circulating tumour cells in peripheral blood: potential impact on breast cancer outcome

Introduction  

In breast cancer, the metastatic process may involve the dissemination of circulating tumour cells (CTCs) through the blood and lymphatic system prior to the colonisation of distant organs. Here we demonstrate the predictive capacity of CTCs for detecting risk of death in breast cancer patients during established time intervals.     

Sustained attention deficits in rats with chronic inflammatory pain

Attentional deficits are a common clinical manifestation in chronic pain patients. The causes for this impairment are not clear, and explanations range from distraction caused by painful feelings to pain-induced putative alterations of brain regions related to attention processing. However, none of these explanations have been experimentally tested and few studies have addressed this issue in animal models. In this study we compared sustained attention in the 5-choice serial reaction time task (5-CSRTT) in rats before and after chronic pain. Persistent pain was induced by intra-articular injection of Complete Freund's Adjuvant and the development of monoarthritis was accessed by sensitivity to von Frey filaments. Results showed that after the induction of persistent pain, animals presented more errors in accuracy and more omissions in the task trials. When the same animals were studied with two different doses of carprofen (5 and 10 mg/kg), the performance was not altered, despite the analgesic effect of the drug. The persistence of attentional impairment during transient analgesia suggests that distraction due to painful stimuli is not the main cause for attentional deficits and that permanent alteration of neurobiological mechanisms of attention should follow chronic pain.