Over one hundred genes have been isolated from the human genome and shown to be causally related to specific human genetic diseases. Studies with gene‐specific probes have demonstrated that the mutations resulting in a particular phenotype are highly heterogeneous as a group, ranging from alterations in transcription or RNA processing in the nucleus, through to errors in mRNA translation in the cytoplasm. Even where the gene‐specific probe is not available, defects have been localized to chromosomal regions by family studies. Recently (...) developed methods for moving along the chromosome from a linked marker to the mutation are resulting in rapid advances in the understanding of many monogenic disorders. (shrink)

This paper reports a study of planning processes in the five-disc Tower of London (TOL) task in 20 younger and 20 older adult participants. A concurrent direct ''think-aloud'' method was used to obtain data on planning processes prior to moving discs in the TOL. A check was made of the effects of verbalising by comparing performance data from the experimental groups with data from control groups who did not verbalise during planning or moving. Verbalising slowed down planning and moving but (...) did not appear to distort the participants' approaches to the task. Older and younger participants did not differ in average moves taken to solve the tasks. However, older participants' planning was less complete and more error-prone than that of younger participants. The planning processes were characterised as showing a means-ends ''goal selection'' strategy. In this strategy participants (1) identify a single active goal disc at the start, (2) select moves and move sequences to enable the placing of the current goal disc in its target position, and (3) continue in this way until all discs are in their target positions. Age differences were found in the planning stage, during which there was no stimulus support and hence a substantial working memory load. During the move phase there was stimulus support and hence little loading of working memory. Age differences in moves required were not found in the move phase. As older participants tend to have depleted working memory capacity the present results suggest that working memory is heavily loaded in TOL planning but less so in the move phase of TOL. (shrink)

This paper reports a study of the roles of visuo-spatial and verbal working memory capacities in solving a planning task - the five-disc Tower of London (TOL) task. An individual differences approach was taken. Sixty adult participants were tested on 20 TOL tasks of varying difficulty. Total moves over the 20 TOL tasks was taken as a measure of performance. Participants were also assessed on measures of fluid intelligence (Raven's matrices), verbal short-term storage (Digit span), verbal working memory span (Silly (...) Sentence span), visuo-spatial short-term storage (Visual Pattern span and Corsi Block span), visuo-spatial working memory (Corsi Distance Estimation), visuo-spatial processing speed (Manikin test), and verbal speed (Rehearsal speed). Exploratory factor analysis using an oblique rotation method revealed three factors which were interpreted as (1) a visuo-spatial working memory factor, (2) an age-speed factor, and (3) a verbal working memory factor. The visuo-spatial and verbal factors were only moderately correlated. Performance on the TOL task loaded on the visuo-spatial factor but did not load on the other factors. It is concluded that the predominant goal-selection strategy adopted in solving the TOL relies on visuo-spatial working memory capacity and particularly involves the active ''inner scribe'' spatial rehearsal mechanism. These correlational analyses confirm and extend results previously obtained by use of dual task methods, (Phillips, Wynn, Gilhooly, Della Sala, & Logie, 1999). (shrink)

A total of 944 expressed sequence tags generated 2212 EST loci mapped to homoeologous group 1 chromosomes in hexaploid wheat. EST deletion maps and the consensus map of group 1 chromosomes were constructed to show EST distribution. EST loci were unevenly distributed among chromosomes 1A, 1B, and ID with 660, 826, and 726, respectively. The number of EST loci was greater on the long arms than on the short arms for all three chromosomes. The distribution of ESTs along chromosome arms (...) was nonrandom with EST clusters occurring in the distal regions of short arms and middle regions of long arms. Duplications of group 1 ESTs in other homoeologous groups occurred at a rate of 35.5%. Seventy-five percent of wheat chromosome 1 ESTs had significant matches with rice sequences, where large regions of conservation occurred between wheat consensus chromosome 1 and rice chromosome 5 and between the proximal portion of the long arm of wheat consensus chromosome 1 and rice chromosome 10. Only 9.5% of group 1 ESTs showed significant matches to Arabidopsis genome sequences. The results presented are useful for gene mapping and evolutionary and comparative genomics of grasses. (shrink)

Recent data indicate that under a specific posthypnotic suggestion to circumvent reading, highly suggestible subjects successfully eliminated the Stroop interference effect. The present study examined whether an optical explanation could account for this finding. Using cyclopentolate hydrochloride eye drops to pharmacologically prevent visual accommodation in all subjects, behavioral Stroop data were collected from six highly hypnotizables and six less suggestibles using an optical setup that guaranteed either sharply focused or blurred vision. The highly suggestibles performed the Stroop task when naturally (...) vigilant, under posthypnotic suggestion not to read, and while visually blurred; the less suggestibles ran naturally vigilant, while looking away, and while visually blurred. Although visual accommodation was precluded for all subjects, posthypnotic suggestion effectively eliminated Stroop interference and was comparable to looking away in controls. These data strengthen the view that Stroop interference is neither robust nor inevitable and support the hypothesis that posthypnotic suggestion may exert a top-down influence on neural processing. (shrink)

This study provides current data on key questions about retraction of scientific articles. Findings confirm that the rate of retractions remains low but is increasing. The most commonly cited reason for retraction was research error or inability to reproduce results; the rate from research misconduct is an underestimate, since some retractions necessitated by research misconduct were reported as being due to inability to reproduce. Retraction by parties other than authors is increasing, especially for research misconduct. Although retractions are on average (...) occurring sooner after publication than in the past, citation analysis shows that they are not being recognised by subsequent users of the work. Findings suggest that editors and institutional officials are taking more responsibility for correcting the scientific record but that reasons published in the retraction notice are not always reliable. More aggressive means of notification to the scientific community appear to be necessary. (shrink)

_Despite advances in standard of living of the population, the condition of widows and divorced women remains deplorable in society. The situation is worse in developing nations with their unique social, cultural and economic milieu, which at times ignores the basic human rights of this vulnerable section of society. A gap exists in life expectancies of men and women in both developing and developed nations. This, coupled with greater remarriage rates in men, ensures that the number of widows continues to (...) exceed that of widowers. Moreover, with women becoming more educated, economically independent and aware of their rights, divorce rates are increasing along with associated psychological ramifications. The fact that widowed/divorced women suffer from varying psychological stressors is often ignored. It has been concluded in various studies that such stressors could be harbingers of psychiatric illnesses (e.g., depression, anxiety, substance dependence), and hence should be taken into account by treating physicians, social workers and others who come to the aid of such women. A change in mindset of the society is required before these women get their rightful place, for which a strong will is needed in the minds of the people, and in law-governing bodies._. (shrink)

There are a number of problematic features within the current treatment of time in physical theories, including the “timelessness” of the Universe as encapsulated by the Wheeler–DeWitt equation. This paper considers one particular investigation into resolving this issue; a conditional probability interpretation that was first proposed by Page and Wooters. Those authors addressed the apparent timelessness by subdividing a faux Universe into two entangled parts, “the clock” and “the remainder of the Universe”, and then synchronizing the effective dynamics of the (...) two subsystems by way of conditional probabilities. The current treatment focuses on the possibility of using a realistic clock system; namely, a coherent-state description of a damped harmonic oscillator. This clock proves to be consistent with the conditional probability interpretation; in particular, a standard evolution operator is identified with the position of the clock playing the role of time for the rest of the Universe. Restrictions on the damping factor are determined and, perhaps contrary to expectations, the optimal choice of clock is not necessarily one of minimal damping. (shrink)

BackgroundThe COVID-19 pandemic has created ethical challenges for intensive care unit (ICU) professionals, potentially causing moral distress. This study explored the levels and causes of moral distress and the ethical climate in Dutch ICUs during COVID-19.MethodsAn extended version of the Measurement of Moral Distress for Healthcare Professionals (MMD-HP) and Ethical Decision Making Climate Questionnaire (EDMCQ) were online distributed among all 84 ICUs. Moral distress scores in nurses and intensivists were compared with the historical control group one year before COVID-19. ResultsThree (...) hundred forty-five nurses (70.7%), 40 intensivists (8.2%), and 103 supporting staff (21.1%) completed the survey. Moral distress levels were higher for nurses than supporting staff. Moral distress levels in intensivists did not differ significantly from those of nurses and supporting staff. “Inadequate emotional support for patients and their families” was the highest-ranked cause of moral distress for all groups of professionals. Of all factors, all professions rated the ethical climate most positively regarding the culture of mutual respect, ethical awareness and support. “Culture of not avoiding end-of-life-decisions” and “Self-reflective and empowering leadership” received the lowest mean scores. Moral distress scores during COVID-19 were significantly lower for ICU nurses (p < 0.001) and intensivists (p < 0.05) compared to one year prior.ConclusionLevels and causes of moral distress vary between ICU professionals and differ from the historical control group. Targeted interventions that address moral distress during a crisis are desirable to improve the mental health and retention of ICU professionals and the quality of patient care. (shrink)

Two firm points in the chronology of Antiphon's speeches are VI περ το χορευτο in 419/81 and the Defence in 411/02. Speech V περ τσ 'Hρδου is now generally dated between these two; only the vaguest attempts have been made to date I κατ τσ μητρυασ; there is no general agreement on either the date or the authorship of the Tetralogies. The main purpose of this paper is to adduce linguistic as well as external evidence for the dating of V (...) in the neighbourhood of 414 and to show grounds for dating I between VI and V. Its secondary purpose is to apply some of the results gained in this inquiry to the fragments and the Tetralogies. (shrink)

On this the following observations should be made: 1. The sigla ABCEFM are used here as in all editions from Hude onwards, H as in Hude though not universally since, and as in Bartoletti, Per la storia del testo di Tucidide ; have not been used before. 2. In positing β as ancestor of ABEFHM but not of C I follow Hude, Bartoletti, Stuart Jones, and Powell. I differ from them in leaving out of consideration G , which is normally (...) considered as descending from a congener of C; since, however, one or more ancestors of G were collated with at least one manuscript related to M and probably with manuscripts of other affinities also, there are clearly no means of deciding whether G is a descendant of C or ultimately independent of C, and I have adopted the economical hypothesis that it is a descendant and must be relegated to the recentiores. (shrink)

The focus of this study was to analyze the content, distribution, and comparative genome relationships of 996 chromosome bin-mapped expressed sequence tags accounting for 2266 restriction fragments on the homoeologous group 3 chromosomes of hexaploid wheat. Of these loci, 634, 884, and 748 were mapped on chromosomes 3A, 3B, and 3D, respectively. The individual chromosome bin maps revealed bins with a high density of mapped ESTs in the distal region and bins of low density in the proximal region of the (...) chromosome arms, with the exception of 3DS and 3DL. These distributions were more localized on the higher-resolution group 3 consensus map with intermediate regions of high-mapped-EST density on both chromosome arms. Gene ontology classification of mapped ESTs was not significantly different for homoeologous group 3 chromosomes compared to the other groups. A combined analysis of the individual bin maps using 537 of the mapped ESTs revealed rearrangements between the group 3 chromosomes. Approximately 232 of the consensus mapped ESTs matched sequences on rice chromosome 1 and revealed large- and small-scale differences in gene order. Of the group 3 mapped EST unigenes ∼21 and 32% matched the Arabidopsis coding regions and proteins, respectively, but no chromosome-level gene order conservation was detected. (shrink)

Elephants show a rich social organization and display a number of unusual traits. In this paper, we analyse reports collected over a thirty-five year period, describing behaviour that has the potential to reveal signs of empathic understanding. These include coalition formation, the offering of protection and comfort to others, retrieving and 'babysitting' calves, aiding individuals that would otherwise have difficulty in moving, and removing foreign objects attached to others. These records demonstrate that an elephant is capable of diagnosing animacy and (...) goal directedness, and is able to understand the physical competence, emotional state and intentions of others, when they differ from its own. We argue that an empathic understanding of others is the simplest explanation of these abilities, and discuss reasons why elephants appear to show empathy more than other non-primate species. (shrink)

Researchers from diverse disciplines, including organismal and cellular physiology, sports science, human nutrition, evolution and ecology, have sought to understand the causes and consequences of the surprising variation in metabolic rate found among and within individual animals of the same species. Research in this area has been hampered by differences in approach, terminology and methodology, and the context in which measurements are made. Recent advances provide important opportunities to identify and address the key questions in the field. By bringing together (...) researchers from different areas of biology and biomedicine, we describe and evaluate these developments and the insights they could yield, highlighting the need for more standardisation across disciplines. We conclude with a list of important questions that can now be addressed by developing a common conceptual and methodological toolkit for studies on metabolic variation in animals. (shrink)