Recommendations for standardized human pedigree nomenclature

The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to >100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.Reprinted with permission from theAmerican Journal of Human Genetics 56:745–752, 1995, The University of Chicago Press. © 1995 by The American Society of Human Genetics. All rights reserved.     

Effects of cold on human information processing: Application of a reaction time paradigm

Only a very few studies on the effects of cold on human information processing appear to exist. Therefore, the present experiment was designed to study the effects of the experimentally induced lowering of body core temperature on information processing, while applying a reaction time paradigm. Thirty healthy male volunteers performed a stimulus evaluation—response selection reaction time task after exposure to ambient temperatures of either 28 or 5°C. A 0.5°C-decrease in body core temperature resulted in a significant increase in both reaction and movement time indicating a general deteriorating effect of lowering of body core temperature on information processing. Mean reaction times were 538 ms and 549 ms for the control and the cold group, respectively (p<.05). The respective mean movement times were 298 ms and 269 ms (p<.001). Speed of stimulus evaluation was not sensitive to decreases in body core temperature. However, response complexity and body core temperature showed a significant interaction in their effect on movement time (p<.05), indicating that lowering of body core temperature is more likely to affect response-related stages of central information processing rather than stimulus evaluation. Furthermore, movement time appeared to be more sensitive to cold-induced effects on information processing as compared to reaction time. Additional correlational analyses suggest that the observed effects can be considered as independent of changes in skin temperature and experienced levels of thermal discomfort. Taken together, the results indicate that lowering of body core temperature differentially affects various stages of information processing.     

Mental rotation and handedness: differences in object-based and egocentric transformations

This study investigates mental rotation performance of right- and left-handers in object-based and egocentric mental rotation tasks using human body stimuli with an outstretched arm in front and back view. Previous literature suggests that right-handers show a slightly better mental rotation performance than left-handers. 42 participants, 14 left-handers and 28 right-handers, completed a mental rotation task with object-based and egocentric transformation of a human figure which was displayed either in front or back view. The main result was a three-way interaction between the factors “kind of transformation”, “handedness” and “view” in a way, that right-handers show significantly faster reaction times then left-handers in front view object-based transformations because of the additional in-depth rotation for front view stimuli. This difference disappeared in egocentric tasks due to the modification of onés own perspective to solve the task. The results of this study show that right-handers not generally outperform left-handers in mental rotation tasks but only if more cognitive resources are needed.     

Correlates of general quality of life are different in patients with primary insomnia as compared to patients with insomnia and psychiatric comorbidity

Chronic insomnia is known to have a negative influence on quality of life (QOL). To date, most studies on chronic insomnia have focused on health-related aspects of QOL. General QOL, which is a different construct, has not been studied in detail. Moreover, it is not known which factors are associated with general QOL in insomnia, and whether the presence of mental disorders, a condition known as comorbid insomnia, affects these variables. The present study focused on identifying sleep and psychosocial variables that might be associated with general QOL in primary and comorbid insomnia. Personality traits, coping variables, anxiety and depressive symptoms, fatigue and subjective sleep variables were assessed in 218 consecutive well-characterized patients with primary and comorbid insomnia, referred to a third line centre for sleep medicine. In primary insomnia, higher extraversion and lower discrepancies in social support were associated with higher QOL. Surprisingly, insomnia severity was not significantly associated with QOL in this group. However, lower fatigue, which can be seen as an important daytime consequence of insomnia was correlated with higher QOL in patients with primary insomnia. In both insomnia groups, low anxiety and depressive symptoms and low fatigue were associated with higher general QOL. In contrast with the primary insomnia group, lower insomnia severity was correlated with higher QOL in patients with comorbid insomnia. These results stress the importance of assessing and treating daytime fatigue in insomnia. In primary insomnia, improving social support might be an important treatment goal. Furthermore, this study supports the concept that treatment of insomnia should not be neglected in patients with comorbid insomnia. Indeed, both insomnia and indices of psychiatric disease are strongly associated with general QOL in this condition.     

The use of snowball sampling for multi source organizational research: Some cause for concern

In snowball sampling for multisource studies, researchers ask target participants to recruit informants. Despite its widespread use, especially for recruiting informants for multisource research, virtually no published research has addressed possible biases snowball sampling may cause in findings of this type of research. Such potential biases were tested empirically in a multisource study with a sample of 1,058 employed students asked to collect online ratings from their supervisors and coworkers. Informant ratings were obtained for 358 target participants. Objective indicators were employed to identify informant ratings suspicious of being fabricated. Results indicated that target participants who report (a) better relationship quality with informants, (b) fewer organizational constraints, and (c) more favorable self‐evaluations on behaviors to be rated by informants were more likely to be included in multisource data unsuspicious of being fabricated. Inclusion of informant ratings suspicious of being fabricated led to inflated estimates of self‐other consensus and of variance accounted for in criterion measures, to deflated informant rating means, but also to a target sample less restricted in terms of relevant organizational variables. In sum, the present findings suggest that potential biases should be identified in future uses of snowball sampling. Some practical recommendations toward that end are derived.     

Telemedizin als effizientes Werkzeug in der Konsultation von Menschen mit Alkoholabhängigkeit

psychopraxis. neuropraxis - Zur Sicherstellung der Kontinuität der Versorgung suchtkranker Patienten zwischen dem ambulanten und stationären Sektor wurde ein Pilotprojekt der Telemedizin...     

Medical Students’ Gender Awareness

Gender awareness in medicine consists of two attitudinal components: gender sensitivity and gender-role ideology. In this article, the development of a scale to measure these attitudes in Dutch medical students is described. After a pilot study and a feasibility study, 393 medical students in The Netherlands responded to a preliminary instrument consisting of 82 items (response rate 61.3%). Reliability and validity were established. A gender awareness scale containing a gender sensitivity subscale (14 items), and gender stereotypes towards patients (11 items) as well as towards doctors (7 items) was developed. The instrument may be used for research purposes to evaluate gender awareness raising courses.     

Action–effect anticipation in infant action control

There is increasing evidence that action effects play a crucial role in action understanding and action control not only in adults but also in infants. Most of the research in infants focused on the learning of action-effect contingencies or how action effects help infants to infer goals in other persons' actions. In contrast, the present research aimed at demonstrating that infants control their own actions by action-effect anticipation once they know about specific action-effect relations. About 7 and 9-month olds observed an experimenter demonstrating two actions that differed regarding the action-effect assignment. Either a red-button press or a blue-button press or no button press elicited interesting acoustical and visual effects. The 9-month olds produced the effect action at first, with shorter latency and longer duration sustaining a direct impact of action-effect anticipation on action control. In 7-month olds the differences due to action-effect manipulation were less profound indicating developmental changes at this age.     

Sex differences in mental rotation with polygons of different complexity: Do men utilize holistic processes whereas women prefer piecemeal ones?

Sex differences in mental rotation were investigated as a function of stimulus complexity with a sample size of N = 72. Replicating earlier findings with polygons, mental rotation was faster for males than for females, and reaction time increased with more complex polygons. Additionally, sex differences increased for complex polygons. Most importantly, however, mental rotation speed decreased with increasing complexity for women but did not change for men. Thus, the sex effects reflect a difference in strategy, with women mentally rotating the polygons in an analytic, piecemeal fashion and men using a holistic mode of mental rotation.