Medical Genetics and Genetic Counseling in Chile

In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.     

Teachers' work engagement: Considering interaction with pupils and human resources practices as job resources

The goal of these 2 studies was to investigate whether teachers' work engagement is related to the extent to which they experience their interactions with pupils and human resource (HR) practices within their schools as motivating. Study 1 was a qualitative study, including document analysis and interviews with 23 respondents within 4 schools to give more insight into prevailing HR practices. Study 2 was a quantitative study, in which 342 teachers in 13 schools were surveyed. As expected, the interactions with pupils were positively related to work engagement. Furthermore, HR practices were positively related to vigor and dedication. Not in line with our expectations, HR practices weakened the relationship between the interaction with pupils and dedication.     

Early language development after peri-natal stroke

Early unilateral brain damage has different implications for language development than does similar damage in adults, given the plasticity of the developing brain. The goal of this study was to examine early markers of language and gesture at 12 and 24 months in children who had peri-natal right hemisphere (RH) or left hemisphere (LH) stroke (n = 71), compared with typically developing controls (n = 126). Parents completed the MacArthur-Bates Communicative Development Inventory (CDI): Words & Gestures (12 month data point), or the CDI: Words & Sentences (24 month data point). Statistical analyses were performed on percentile scores using analysis of variance techniques. At 12 months, there were no differences among groups for Words Understood, Phrases Understood or Words Produced. At 24 months, both lesion groups scored significantly lower than controls on Word Production, Irregular Words, and Mean Length of Sentences, but lesion groups did not differ from each other. In a longitudinal subset of participants, expressive vocabulary failed to progress as expected from 12 to 24 months in the stroke group, with no differences based on lesion side. Gesture and word production were dissociated in the left hemisphere subjects. Findings suggest that early language development after peri-natal stroke takes a different course from that of typical language development, perhaps reflecting brain reorganization secondary to plasticity in the developing brain.     

Problem-oriented sessions: Presentation of a method for therapeutic work within a narrow time frame

Abstract

A method of problem-orientation has been developed as a delimited psychotherapeutic procedure comprising four sessions with a psychotherapist. The distinguishing feature of this method is the distinct time frame, within which the therapist grasps the patient's current situation and difficulties. The sessions are disengaged from considerations about the need for further treatment. The therapist appeals to die reflective part of the patient and attempts to awaken their curiosity about themselves in order to explore inner associations concerning core problems. The four problem-oriented sessions are offered during the initial telephone contact to the person who wishes to gain a greater understanding of their own part in their difficulties and who is able, already in the introductory telephone conversation, to embark upon an exploratory dialogue about these problems. The sessions are strongly characterized by this short-term perspective; the intensity increases and attention is sharpened. The stance adopted by the therapist during die sessions is one of balancing a non-appraising, empathic and confirmatory listening aimed at making connections with reality and a faith in the patient's resources and capacity to maintain a sense of responsibility for their life; an approach which limits the patient's tendency to regress. Transference is not interpreted explicitly but is used by the therapist to understand the patient. Supervision is an important and essential component, whereby the therapist receives help in increasing understanding of that which is played out during the sessions and also of their own counter-transference. This understanding constitutes the foundation of the therapist's tentative formulations of that which is central in the patient's problems.     

Role of the hippocampus and orbitofrontal cortex during the disambiguation of social cues in working memory

Human social interactions are complex behaviors requiring the concerted effort of multiple neural systems to track and monitor the individuals around us. Cognitively, adjusting our behavior on the basis of changing social cues such as facial expressions relies on working memory and the ability to disambiguate, or separate, the representations of overlapping stimuli resulting from viewing the same individual with different facial expressions. We conducted an fMRI experiment examining the brain regions contributing to the encoding, maintenance, and retrieval of overlapping identity information during working memory using a delayed match-to-sample task. In the overlapping condition, two faces from the same individual with different facial expressions were presented at sample. In the nonoverlapping condition, the two sample faces were from two different individuals with different expressions. fMRI activity was assessed by contrasting the overlapping and nonoverlapping conditions at sample, delay, and test. The lateral orbitofrontal cortex showed increased fMRI signal in the overlapping condition in all three phases of the delayed match-to-sample task and increased functional connectivity with the hippocampus when encoding overlapping stimuli. The hippocampus showed increased fMRI signal at test. These data suggest that lateral orbitofrontal cortex helps encode and maintain representations of overlapping stimuli in working memory, whereas the orbitofrontal cortex and hippocampus contribute to the successful retrieval of overlapping stimuli. We suggest that the lateral orbitofrontal cortex and hippocampus play a role in encoding, maintaining, and retrieving social cues, especially when multiple interactions with an individual need to be disambiguated in a rapidly changing social context in order to make appropriate social responses.     

Patients’ intention to speak up for health care providers’ hand hygiene in inpatient diabetic foot wound treatment: a cross-sectional survey in diabetes outpatient centres in Lower Saxony,Germany*

Hand hygiene in wound care by health care providers (HCPs) is a key principle in treating hospitalized patients with diabetic foot infections. This study aimed to estimate the extent to which patients with type-2-diabetes (T2D) intend to speak up for HCPs’ hand hygiene during inpatient foot treatment, test whether this motivation increases given the hospital would invite patients to speak up, and identify associations with socio-demographics, knowledge of hand hygiene requirements, and diabetes-related factors. A questionnaire-survey was conducted in eight diabetes outpatient centres in Lower Saxony/Germany. Intentions to speak up (without and with institutional encouragement) and knowledge about hand hygiene during foot-care were assessed. Analyses of variance were conducted, partly as repeated measures-models with intention-items as within-subject factor. N = 473 patients participated (response = 77.4%). N = 177 (41%) strongly intended to speak up. Institutional encouragement was associated with an increased rate of strong (54% vs. 41%; p < .001) and higher mean intention (M = 3.9 vs. 3.4 with vs. without encouragement [5-point-scales]; F(1, 434)?=?41.5, p < .001). In patients without diabetic foot syndrome, this effect was limited to those with at least medium school education (F(2, 292)?=?4.4, p = .013) and knowledge on HCPs’ hand hygiene (F(2, 294)?=?3.1, p = .047). In conclusion, a majority of T2D-patients in diabetes outpatient centres intend to speak for HCPs’ hand hygiene in inpatient foot treatment, and are receptive to institutional encouragement. However, this presupposes at least medium education and knowledge about hand hygiene, emphasizing that patient empowerment begins with knowledge.     

ROCs in Eyewitness Identification: Instructions versus Confidence Ratings

From the perspective of signal detection theory, different lineup instructions may induce different levels of response bias. If so, then collecting correct and false identification rates across different instructional conditions will trace out the receiver operating characteristic (ROC)—the same ROC that, theoretically, could also be traced out from a single instruction condition in which each eyewitness decision is accompanied by a confidence rating. We tested whether the two approaches do in fact yield the same ROC. Participants were assigned to a confidence rating condition or to an instructional biasing condition (liberal, neutral, unbiased, or conservative). After watching a video of a mock crime, participants were presented with instructions followed by a six‐person simultaneous photo lineup. The ROCs from both methods were similar, but they were not exactly the same. These findings have potentially important policy implications for how the legal system should go about controlling eyewitness response bias.Copyright © 2017 John Wiley & Sons, Ltd.     

The rejection-rage contingency in borderline personality disorder

Though long-standing clinical observation reflected in the Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.) suggests that the rage characteristic of borderline personality disorder (BPD) often appears in response to perceived rejection, the role of perceived rejection in triggering rage in BPD has never been empirically tested. Extending basic personality research on rejection sensitivity to a clinical sample, a priming-pronunciation experiment and a 21-day experience-sampling diary examined the contingent relationship between perceived rejection and rage in participants diagnosed with BPD compared with healthy controls. Despite the differences in these 2 assessment methods, the indices of rejection-contingent rage that they both produced were elevated in the BPD group and were strongly interrelated. They provide corroborating evidence that reactions to perceived rejection significantly explain the rage seen in BPD.     

Stress and happiness among adolescents with varying frequency of physical activity

The aim of this cross-sectional study was to investigate associations between physical activity, stress, and happiness, as well as possible sex and age differences on these variables in a survey of 1,508 adolescent pupils (13 to 18 yr.) in middle Norway. Adolescents who reported they participated in physical activity 2 to 3 times per week or more scored significantly lower on stress and higher on happiness than those who participated in physical activity 1 day per week or less. There was no significant difference on stress and happiness between those being physically active 2 or 3 times a week and those being active almost every day. There was no sex difference in physical activity frequency. Girls had higher mean scores on stress, and boys scored higher on happiness. Adolescents 15 to 16 years old showed higher stress scores than those 17 to 18 years old, but there were no significant differences between the different age groups when looking at happiness and physical activity. A statistically significant two-way interaction of sex by age was found on both stress and happiness.     

Working memory capacity modulates task performance but has little influence on task choice

Variation in the ability to maintain internal goals while resolving competition from multiple information streams has been related to individual differences in working memory capacity (WMC). In a multitask environment, task choice and task performance are influenced by internal goals, prior behavior within the environment, and the availability of relevant and irrelevant information in the environment. Using the voluntary task-switching procedure, task performance, as measured by switch costs, was related to WMC, but only at short preparation intervals. Task choice processes were only weakly related to WMC. These findings are consistent with models of cognitive control that separate task choice processes from the processes of activating and maintaining task readiness. WMC is related to regulation of specific task parameters but not to choice processes integral to the coordination of multiple sources of information.