Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

<p>Abstract</p> <p>Background</p> <p>Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of a syndrome. Isolated BDE is rare and in the majority of cases the molecular pathogenesis has so far not been resolved. Originally, the molecular cause of isolated BDE has been unravelled in 2 families and shown to result from heterozygous missense mutations in the homeodomain of the <it>HOXD13 </it>gene. Since the initial manuscript, one further <it>HOXD13 </it>mutation has been reported only in a single family manifesting isolated BDE.</p> <p>Case Presentation</p> <p>In this paper, we report on a Polish family exhibiting isolated BDE caused by a novel nonsense heterozygous <it>HOXD13 </it>mutation. We investigated a Polish female proband and her father, both affected by isolated BDE, in whom we identified a nonsense heterozygous mutation c.820C > T(p.R274X) in the <it>HOXD13 </it>gene. So far, only two missense <it>HOXD13 </it>substitutions (p.S308C and p.I314L), localized within the homeodomain of the HOXD13 transcription factor, as well as a single nonsense mutation (p.E181X) were associated with BDE. Both missense changes were supposed to alter DNA binding affinity of the protein.</p> <p>Conclusion</p> <p>The variant p.R274X identified in our proband is the fourth <it>HOXD13 </it>mutation, and the second truncating (nonsense) mutation, reported to result in typical isolated BDE. We refer our clinical and molecular findings to the previously described <it>HOXD13 </it>associated phenotypes and mutations.</p

The psychophysics of uneconomical choice: non-linear reward evaluation by a nectar feeder

Uneconomical choices by humans or animals that evaluate reward options challenge the expectation that decision-makers always maximize the return currency. One possible explanation for such deviations from optimality is that the ability to sense differences in physical value between available alternatives is constrained by the sensory and cognitive processes for encoding profitability. In this study, we investigated the capacity of a nectarivorous bat species (Glossophaga commissarisi) to discriminate between sugar solutions with different concentrations. We conducted a two-alternative free-choice experiment on a population of wild electronically tagged bats foraging at an array of computer-automated artificial flowers that recorded individual choices. We used a Bayesian approach to fit individual psychometric functions, relating the strength of preferring the higher concentration option to the intensity of the presented stimulus. Psychometric analysis revealed that discrimination ability increases non-linearly with respect to intensity. We combined this result with a previous psychometric analysis of volume perception. Our theoretical analysis of choice for rewards that vary in two quality dimensions revealed regions of parameter combinations where uneconomic choice is expected. Discrimination ability may be constrained by non-linear perceptual and cognitive encoding processes that result in uneconomical choice

Ape Conservation Physiology: Fecal Glucocorticoid Responses in Wild Pongo pygmaeus morio following Human Visitation

Nature-based tourism can generate important revenue to support conservation of biodiversity. However, constant exposure to tourists and subsequent chronic activation of stress responses can produce pathological effects, including impaired cognition, growth, reproduction, and immunity in the same animals we are interested in protecting. Utilizing fecal samples (N = 53) from 2 wild habituated orangutans (Pongo pygmaeus morio) (in addition to 26 fecal samples from 4 wild unhabituated orangutans) in the Lower Kinabatangan Wildlife Sanctuary of Sabah, Malaysian Borneo, we predicted that i) fecal glucocorticoid metabolite concentrations would be elevated on the day after tourist visitation (indicative of normal stress response to exposure to tourists on the previous day) compared to samples taken before or during tourist visitation in wild, habituated orangutans, and ii) that samples collected from habituated animals would have lower fecal glucocorticoid metabolites than unhabituated animals not used for tourism. Among the habituated animals used for tourism, fecal glucocorticoid metabolite levels were significantly elevated in samples collected the day after tourist visitation (indicative of elevated cortisol production on the previous day during tourist visitation). Fecal glucocorticoid metabolite levels were also lower in the habituated animals compared to their age-matched unhabituated counterparts. We conclude that the habituated animals used for this singular ecotourism project are not chronically stressed, unlike other species/populations with documented permanent alterations in stress responses. Animal temperament, species, the presence of coping/escape mechanisms, social confounders, and variation in amount of tourism may explain differences among previous experiments. Acute alterations in glucocorticoid measures in wildlife exposed to tourism must be interpreted conservatively. While permanently altered stress responses can be detrimental, preliminary results in these wild habituated orangutans suggest that low levels of predictable disturbance can likely result in low physiological impact on these animals

Data from: Weber's law, the magnitude effect and discrimination of sugar concentrations in nectar-feeding animals

Weber’s law quantifies the perception of difference between stimuli. For instance, it can explain why we are less likely to detect the removal of three nuts from a bowl if the bowl is full than if it is nearly empty. This is an example of the magnitude effect – the phenomenon that the subjective perception of a linear difference between a pair of stimuli progressively diminishes when the average magnitude of the stimuli increases. Although discrimination performances of both human and animal subjects in various sensory modalities exhibit the magnitude effect, results sometimes systematically deviate from the quantitative predictions based on Weber’s law. An attempt to reformulate the law to better fit data from acoustic discrimination tasks has been dubbed the “near-miss to Weber’s law”. Here, we tested the gustatory discrimination performance of nectar-feeding bats (Glossophaga soricina), in order to investigate whether the original version of Weber’s law accurately predicts choice behavior in a two-alternative forced choice task. As expected, bats either preferred the sweeter of the two options or showed no preference. In 4 out of 6 bats the near-miss to Weber’s law provided a better fit and Weber’s law underestimated the magnitude effect. In order to test the generality of this observation in nectar-feeders, we reviewed previously published data on bats, hummingbirds, honeybees, and bumblebees. In all groups of animals the near-miss to Weber’s law provided better fits than Weber’s law. Furthermore, whereas the magnitude effect was stronger than predicted by Weber’s law in vertebrates, it was weaker than predicted in insects. Thus nectar-feeding vertebrates and insects seem to differ in how their choice behavior changes as sugar concentration is increased. We discuss the ecological and evolutionary implications of the observed patterns of sugar concentration discrimination

Development of an Offline-Friend Addiction Questionnaire (O-FAQ): Are most people really social addicts?

A growing number of self-report measures aim to define interactions with social media in a pathological behavior framework; often using terminology focused on identifying those who are ‘addicted’ to engaging with others online. Specifically, measures of ‘social media addiction’ focus on motivations for online social information seeking, many of which could be motivations for offline social information seeking. It could be the case that these same measures could reveal a pattern of friend addiction in general. This study develops the Offline-Friend Addiction Questionnaire (O-FAQ) by re-wording items from highly-cited pathological social media use scales to reflect “spending time with friends”. Our methodology for validation follows literature precedent in social media addiction scales. The O-FAQ had a three-factor solution in an exploratory sample of N=807 and these factors were stable in a four-week retest (r= .72 to .86) and was validated against personality traits, and risk-taking behavior, in conceptually plausible directions. Using the same ‘polythetic classification techniques’ as pathological social media use studies, we were able to classify 69% of our sample as addicted to spending time with their friends. The discussion of our satirical research is a critical reflection on the role of measurement and human sociality in social media research. We question the extent to which connecting with others can be considered an ‘addiction’ and issues with the validation of new ‘addiction’ measures without relevant medical constructs. Readers should approach our measure with a level of skepticism that should be afforded to current social media addiction measures

Transforming Pinus pinaster forest to recreation site: Preliminary effects on LAI, some forest floor, and soil properties

This study investigates the effects of forest transformation into recreation site. A fragment of a Pinus pinaster plantation forest was transferred to a recreation site in the city of BartIn located close to the Black Sea coast of northwestern Turkey. During the transformation, some of the trees were selectively removed from the forest to generate more open spaces for the recreationists. As a result, Leaf Area Index (LAI) decreased by 0.20 (about 11 %). Additionally, roads and pathways were introduced into the site together with some recreational equipment sealing parts of the soil surface. Consequently, forest environment was altered with a semi-natural landscape within the recreation site. The purpose of this study is to assess the effects of forest transformation into recreation site particularly in terms of the LAI parameter, forest floor, and soil properties. Preliminary monitoring results indicate that forest floor biomass is reduced by 26 % in the recreation site compared to the control site. Soil temperature is increased by 15 % in the recreation site where selective removal of trees expanded the gaps allowing more light transmission. On the other hand, the soil bulk density which is an indicator of soil compaction is unexpectedly slightly lower in the recreation site. Organic carbon (Corg) and total nitrogen (Ntotal) together with the other physical and chemical parameter values indicate that forest floor and soil have not been exposed to much disturbance. However, subsequent removal of trees that would threaten the vegetation, forest floor, and soil should not be allowed. The activities of the recreationists are to be concentrated on the paved spaces rather than soil surfaces. Furthermore, long-term monitoring and management is necessary for both the observation and conservation of the site. © 2013 Springer Science+Business Media