Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome (HGPS) is characterized by the clinical features of accelerated aging in childhood. Both MAD and HGPS can be caused by mutations in the LMNA gene. In this study, we describe a 2-year-old boy with overlapping features of MAD and HGPS. Mutation analysis of the LMNA gene revealed a homozygous missense change, p.M540T, while only the mother carries the mutation. Uniparental disomy (UPD) analysis for chromosome 1 showed the presence of maternal UPD. Markers in the 1q21.3-q22 region flanking the LMNA locus were isodisomic, while markers in the short arm and distal 1q region were heterodisomic. These results suggest that nondisjunction in maternal meiosis followed by loss of the paternal chromosome 1 during trisomy rescue might result in the UPD1 and homozygosity for the p.M540T mutation observed in this patient

Literacy practitioners’ perspectives on adult learning needs and technology approaches in Indigenous communities

Current reports of literacy rates in Australia indicate an ongoing gap in literacy skills between Indigenous and non-Indigenous Australian adults, at a time when the literacy demands of work and life are increasing. There are many perspectives on what are the literacy needs of Indigenous adults,from the perspectives of community members themselves to the relatively under-researched perspective of literacy practitioners. This paper provides the insights, experiences and recommendations from adult literacy practitioners who work with adult Indigenous learners in communities across Australia. Focus group interviews, using an online synchronous platform, were used to elicit views about the literacy needs of Indigenous adults in communities and the successes in and barriers to meeting those needs. The practitioners also shared their views on the use of technology in literacy learning. Together, these views can informfuture directions in curriculum design and teaching approaches for community-based Indigenous adult literacy education

The Regulation of Aggrecanase ADAMTS-4 Expression in Human Achilles Tendon and tendon-Derived Cells

Several members of the ADAMTS (A Disintegrin And Metalloproteinase with ThromboSpondin motifs) family have been identified as aggrecanases, whose substrates include versican, the principal large proteoglycan in the tendon extracellular matrix. We have characterized the expression of ADAMTS-4 in human Achilles tendon and tendon-derived cells. ADAMTS-4 mRNA levels were higher in ruptured tendon compared with normal tendon or chronic painful tendinopathy. In tissue extracts probed by Western blotting, mature ADAMTS-4 (68 kDa) was detected only in ruptured tendons, while processed ADAMTS-4 (53 kDa) was detected also in chronic painful tendinopathy and in normal tendon. In cultured Achilles tendon cells, transforming growth factor-ß (TGF-ß) stimulated ADAMTS-4 mRNA expression (typically 20-fold after 24 h), while interleukin-1 induced a smaller, shorter-term stimulation which synergised markedly with that induced by TGF-ß. Increased levels of immunoreactive proteins consistent with mature and processed forms of ADAMTS-4 were detected in TGF-ß-stimulated cells. ADAMTS-4 mRNA was expressed at higher levels by tendon cells in collagen gels than in monolayer cultures. In contrast, the expression of ADAMTS-1 and -5 mRNA was lower in collagen gels compared with monolayers, and these mRNA showed smaller or opposite responses to growth factors and cytokines compared with that of ADAMTS-4 mRNA. We conclude that both ADAMTS-4 mRNA and ADAMTS-4 protein processing may be differentially regulated in normal and damaged tendons and that both the matrix environment and growth factors such as TGF-ß are potentially important factors controlling ADAMTS aggrecanase activities in tendon pathology

Investigating the association between mating-relevant self-concepts and mate preferences through a data-driven analysis of online personal descriptions

Research on mate preference have often taken a theory-driven approach; however, such an approach can constrain the range of possible predictions. As a result, the research community may inadvertently neglect traits that are potentially important for human mate choice if current theoretical models simply do not identify them. Here, we address this limitation by using a data-driven approach to investigate mating-relevant self-concepts (i.e., what individuals believe to be attractive about themselves). Using Latent Dirichlet Allocation (LDA; a clustering method developed in computer science) and a large sample of written descriptions from online personal advertisements (N = 7,973), we identify 25 common topics that individuals use when advertising themselves. Men were more likely to advertise education/status, while women were more likely to discuss being honest/nurturing and caring for pets. We also assessed patterns of universal and compatible mate preferences for these 25 topics by collecting ratings of desirability from a separate group of 100 participants on a subset of these profiles (N = 468). Participants were also asked to write a personal description of themselves as if they were writing for a dating website. Overall, both male and female profiles that discussed outdoor activities, and music/art were rated as more desirable, while women that discussed a healthy lifestyle and friends/family were also rated as more desirable. Both men and women who discussed sex or mentioned being a parent were rated as less desirable. When comparing the topic probabilities between profiles collected online and those written by the raters, we found that raters preferred profiles that were more similar to their own, particularly for topics to do with being outgoing and agreeable

Individual-specific mortality is associated with how individuals evaluate future discounting decisions

How organisms discount the value of future rewards is associated with many important outcomes, and may be a central component of theories of life-history. According to life-history theories, prioritizing immediacy is indicative of an accelerated strategy (i.e. reaching reproductive maturity quickly and producing many offspring at the cost of long-term investment). Previous work extrapolating life-history theories to facultative calibration of life-history traits within individuals has theorized that cues to mortality can trigger an accelerated strategy; however, compelling evidence for this hypothesis in modern humans is lacking. We assessed whether country-level life expectancy predicts individual future discounting behaviour across multiple intertemporal choice items in a sample of 13 429 participants from 54 countries. Individuals in countries with lower life expectancy were more likely to prefer an immediate reward to one that is delayed. Individuals from countries with greater life expectancy were especially more willing to wait for a future reward when the relative gain in choosing the future reward was large and/or the delay period was short. These results suggest that cues to mortality can influence the way individuals evaluate intertemporal decisions, which in turn can inform life-history trade-offs. We also found that older (but not very old) participants were more willing to wait for a future reward when there is a greater relative gain and/or shorter delay period, consistent with theoretical models that suggest individuals are more future-orientated at middle age

Partner choice, relationship satisfaction, and oral contraception: the congruency hypothesis

Hormonal fluctuation across the menstrual cycle explains temporal variation in women’s judgment of the attractiveness of members of the opposite sex. Use of hormonal contraceptives could therefore influence both initial partner choice and, if contraceptive use subsequently changes, intrapair dynamics. Associations between hormonal contraceptive use and relationship satisfaction may thus be best understood by considering whether current use is congruent with use when relationships formed, rather than by considering current use alone. In the study reported here, we tested this congruency hypothesis in a survey of 365 couples. Controlling for potential confounds (including relationship duration, age, parenthood, and income), we found that congruency in current and previous hormonal contraceptive use, but not current use alone, predicted women’s sexual satisfaction with their partners. Congruency was not associated with women’s nonsexual satisfaction or with the satisfaction of their male partners. Our results provide empirical support for the congruency hypothesis and suggest that women’s sexual satisfaction is influenced by changes in partner preference associated with change in hormonal contraceptive use

Investigating the association between mating-relevant self-concepts and mate preferences through a data-driven analysis of online personal descriptions

Research on mate preference have often taken a theory-driven approach; however, such an approach can constrain the range of possible predictions. As a result, the research community may inadvertently neglect traits that are potentially important for human mate choice if current theoretical models simply do not identify them. Here, we address this limitation by using a data-driven approach to investigate mating-relevant self-concepts (i.e., what individuals believe to be attractive about themselves). Using Latent Dirichlet Allocation (LDA; a clustering method developed in computer science) and a large sample of written descriptions from online personal advertisements (N = 7,973), we identify 25 common topics that individuals use when advertising themselves. Men were more likely to advertise education/status, while women were more likely to discuss being honest/nurturing and caring for pets. We also assessed patterns of universal and compatible mate preferences for these 25 topics by collecting ratings of desirability from a separate group of 100 participants on a subset of these profiles (N = 468). Participants were also asked to write a personal description of themselves as if they were writing for a dating website. Overall, both male and female profiles that discussed outdoor activities, and music/art were rated as more desirable, while women that discussed a healthy lifestyle and friends/family were also rated as more desirable. Both men and women who discussed sex or mentioned being a parent were rated as less desirable. When comparing the topic probabilities between profiles collected online and those written by the raters, we found that raters preferred profiles that were more similar to their own, particularly for topics to do with being outgoing and agreeable

First detection of phase-dependent colliding wind X-ray emission outside the Milky Way

After having reported the detection of X-rays emitted by the peculiar system HD5980, we assess here the origin of this high-energy emission from additional X-ray observations obtained with XMM-Newton. This research provides the first detection of apparently periodic X-ray emission from hot gas produced by the collision of winds in an evolved massive binary outside the Milky Way. It also provides the first X-ray monitoring of a Luminous Blue Variable only years after its eruption and shows that the dominant source of the X-rays is not associated with the ejecta.Comment: 13 pages, 3 figures and 1 table, accepted for publication in ApJ (letters

Distinct Fermentation and Antibiotic Sensitivity Profiles Exist in Salmonellae of Canine and Human Origin

Background Salmonella enterica is a recognised cause of diarrhoea in dogs and humans, yet the potential for transfer of salmonellosis between dogs and their owners is unclear, with reported evidence both for and against Salmonella as a zoonotic pathogen. A collection of 174 S. enterica isolates from clinical infections in humans and dogs were analysed for serotype distribution, carbon source utilisation, chemical and antimicrobial sensitivity profiles. The aim of the study was to understand the degree of conservation in phenotypic characteristics of isolates across host species. Results Serovar distribution across human and canine isolates demonstrated nine serovars common to both host species, 24 serovars present in only the canine collection and 39 solely represented within the human collection. Significant differences in carbon source utilisation profiles and ampicillin, amoxicillin and chloramphenicol sensitivity profiles were detected in isolates of human and canine origin. Differences between the human and canine Salmonella collections were suggestive of evolutionary separation, with canine isolates better able to utilise several simple sugars than their human counterparts. Generally higher minimum inhibitory concentrations of three broad-spectrum antimicrobials, commonly used in veterinary medicine, were also observed in canine S. enterica isolates. Conclusions Differential carbon source utilisation and antimicrobial sensitivity profiles in pathogenic Salmonella isolated from humans and dogs are suggestive of distinct reservoirs of infection for these hosts. Although these findings do not preclude zoonotic or anthroponotic potential in salmonellae, the separation of carbon utilisation and antibiotic profiles with isolate source is indicative that infectious isolates are not part of a common reservoir shared frequently between these host species

Adaptation to Antifaces and the Perception of Correct Famous Identity in an Average Face

Previous experiments have examined exposure to anti-identities (faces that possess traits opposite to an identity through a population average), finding that exposure to antifaces enhances recognition of the plus-identity images. Here we examine adaptation to antifaces using famous female celebrities. We demonstrate: that exposure to a color and shape transformed antiface of a celebrity increases the likelihood of perceiving the identity from which the antiface was manufactured in a composite face and that the effect shows size invariance (experiment 1), equivalent effects are seen in internet and laboratory-based studies (experiment 2), adaptation to shape-only antifaces has stronger effects on identity recognition than adaptation to color-only antifaces (experiment 3), and exposure to male versions of the antifaces does not influence the perception of female faces (experiment 4). Across these studies we found an effect of order where aftereffects were more pronounced in early than later trials. Overall, our studies delineate several aspects of identity aftereffects and support the proposal that identity is coded relative to other faces with special reference to a relatively sex-specific mean face representation