Dermatological concerns for women and girls with turner syndrome.

Introduction: Turner syndrome (TS) is associated with distinct manifestations in women and girls including short stature, cardiac abnormalities, premature ovarian failure as well as dermatological features, including lymphedema, keloids, onychodystrophy, and acne. Although many dermatological concerns present during the first few decades of life, the overwhelming majority of respondents are not provided with dermatology referrals at diagnosis. Methods: This cross-sectional study utilized an author designed survey to assess self-reported dermatological manifestations, dermatology referral experience, common therapies for select dermatological conditions, as well as a validated 10-question Dermatology Life Quality Index (DLQI) to assess quality-of-life impact in women and girls with Turner syndrome. Results: In our cohort, 64% (n = 149) had been referred to a dermatologist at some point in their life time. The majority of individuals self-identified their dermatological concern (79.6%) and were referred after a dermatological concern had already occurred (90.2%). The most common dermatological findings reported were xerosis cutis (78.7%), lymphedema (73%), and more than 20 acquired melanocytic nevi (70%). The overall mean DLQI score was 3.52, indicative of a small effect on the patient's life. Onychodystrophy, history of skin biopsy, and lymphedema were statistically significant to have a higher impact on quality of life. Discussion: Our data reveal that skin conditions are highly prevalent in the TS population during the early decades of life and affirm utilizing these conditions in the TS diagnostic process, as well as emphasize the need for specialized dermatology referrals to address the detrimental impacts related to skin concerns on quality of life.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of this proto-oncogene in mice is embryonically lethal. Through international data sharing, we identified 17 individuals (10 females and 7 males) with a neurodevelopmental disorder (NDD) with heterozygous germline SRSF1 variants, mostly de novo, including three frameshift variants, three nonsense variants, seven missense variants, and two microdeletions within region 17q22 encompassing SRSF1. Only in one family, the de novo origin could not be established. All individuals featured a recurrent phenotype including developmental delay and intellectual disability (DD/ID), hypotonia, neurobehavioral problems, with variable skeletal (66.7%) and cardiac (46%) anomalies. To investigate the functional consequences of SRSF1 variants, we performed in silico structural modeling, developed an in vivo splicing assay in Drosophila, and carried out episignature analysis in blood-derived DNA from affected individuals. We found that all loss-of-function and 5 out of 7 missense variants were pathogenic, leading to a loss of SRSF1 splicing activity in Drosophila, correlating with a detectable and specific DNA methylation episignature. In addition, our orthogonal in silico, in vivo, and epigenetics analyses enabled the separation of clearly pathogenic missense variants from those with uncertain significance. Overall, these results indicated that haploinsufficiency of SRSF1 is responsible for a syndromic NDD with ID due to a partial loss of SRSF1-mediated splicing activity.

Efficacy of Kairomone Lures to Attract Parasitoids of Halyomorpha halys.

In its native range, Halyomorpha halys (Stål) is suppressed by parasitoids in the genus Trissolcus (Hymenoptera: Scelionidae). Trissolcus native to Utah have demonstrated low parasitism of H. halys, while adventive Trissolcus japonicus (Ashmead) have shown parasitism of up to 20%. Custom rubber septa lures containing stink bug kairomones, n-tridecane (attractant), and (E)-2-decenal (repellent), at 100%, 90%, and 80% levels of attractant (10 mg load rate), were placed adjacent to sentinel H. halys egg masses in northern Utah field trials. Egg masses were evaluated for the presence and intensity (proportion of parasitized eggs) of parasitism. Parasitism by T. japonicus and T. euschisti (Ashmead) was low; however, the 100% lure showed double the parasitism of the control and more than three times that of the 90% and 80%. Two-way choice mesocosm trials in the laboratory evaluated previous lures and a lower load rate of 5 mg-100% attractant treatment. Lures of 10 mg at 100% and 80% were more attractive to T. japonicus than the control, while 5 mg at 100% and 10 mg at 90% showed no significant attraction. Our results support a proof-of-concept of rubber septa as release devices for kairomones to attract T. japonicus and provide a baseline for future field-based studies.

Search for Low-Mass Axion Dark Matter with ABRACADABRA-10 cm.

Two of the most pressing questions in physics are the microscopic nature of the dark matter that comprises 84% of the mass in the Universe and the absence of a neutron electric dipole moment. These questions would be resolved by the existence of a hypothetical particle known as the quantum chromodynamics (QCD) axion. In this work, we probe the hypothesis that axions constitute dark matter, using the ABRACADABRA-10 cm experiment in a broadband configuration, with world-leading sensitivity. We find no significant evidence for axions, and we present 95% upper limits on the axion-photon coupling down to the world-leading level g_{aγγ}<3.2×10^{-11} GeV^{-1}, representing one of the most sensitive searches for axions in the 0.41-8.27 neV mass range. Our work paves a direct path for future experiments capable of confirming or excluding the hypothesis that dark matter is a QCD axion in the mass range motivated by string theory and grand unified theories.

Links between personality, early natal nutrition and survival of a threatened bird.

There is growing recognition that variation in animal personality traits can influence survival and reproduction rates, and consequently may be important for wildlife population dynamics. Despite this, the integration of personality research into conservation has remained uncommon. Alongside the establishment of personality as an important source of individual variation has come an increasing interest in factors affecting the development of personality. Recent work indicates the early environment, including natal nutrition, may play a stronger role in the development of personality than previously thought. In this study, we investigated the importance of three personality metrics (activity, boldness and acclimation time) for estimating survival of a threatened species, the hihi (Notiomystis cincta), and evaluated the influence of early natal nutrition on those metrics. Our results showed that boldness (as measured from a one-off cage test) had a positive effect on the probability of juvenile hihi surviving to adulthood. There was also a tendency for juveniles that received carotenoid supplementation in the nest to be bolder than those that did not, suggesting that the early environment had some influence on the expression of boldness in juvenile hihi. Linking the development of personality traits with ultimate effects on vital rates may benefit conservation management, as it could enable developmentally targeted management interventions. To our knowledge, this study is the first to identify potential linkages between early natal nutrition, personality and fitness in a wild-living population. This article is part of the theme issue 'Linking behaviour to dynamics of populations and communities: application of novel approaches in behavioural ecology to conservation'.

Influence of Fathers' Early Parenting on the Development of Children Born Very Preterm and Full Term.

OBJECTIVES: To examine factors associated with fathers' early parenting behaviors (including very preterm [VPT] birth, familial social risk, child sex, and child medical risk), and the relationship between fathers' early parenting behaviors and later child development. STUDY DESIGN: Participants were 81 VPT (born <30 weeks of gestation) and 39 full-term father-child dyads. Parenting behaviors (sensitivity, structuring, nonintrusiveness, nonhostility) were assessed at 12 months of corrected age using the Emotional Availability Scales, with scores ranging from 1 (low) to 7 (high). At 24 months of corrected age, child cognitive, language, motor, and social-emotional development were assessed. Results are presented as (regression coefficients; 95% CIs). RESULTS: There was little evidence that VPT birth, familial social risk, or child medical risk were associated with fathers' parenting behaviors. Fathers of girls tended to be more sensitive (0.42; 0.18, 0.65), less intrusive (0.36; 0.04, 0.70), and less hostile (0.26; 0.01, 0.50) compared with fathers of boys. Higher structuring was associated with more optimal cognitive (3.29; 1.25, 5.34), and language development (4.69; 2.26, 7.14). Higher sensitivity was associated with more optimal language development 3.35 (0.95, 5.75), and more intrusive behavior was associated with more externalizing symptoms (-1.68; -3.06, -0.31). CONCLUSIONS: Early parenting did not differ between fathers with VPT and full-term children, but fathers' parenting did vary according to child sex. Fathers' early parenting was associated with future neurodevelopment, reinforcing the need to support fathers' parenting, and include fathers in early intervention programs.

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

This corrects the article DOI: 10.1038/bjc.2017.429.

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

BACKGROUND: Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 mutations. This analysis evaluates the utility of PSA and PSAV for identifying PrCa and high-grade disease in this cohort. METHODS: PSAV was calculated using logistic regression to determine if PSA or PSAV predicted the result of prostate biopsy (PB) in men with elevated PSA values. Cox regression was used to determine whether PSA or PSAV predicted PSA elevation in men with low PSAs. Interaction terms were included in the models to determine whether BRCA status influenced the predictiveness of PSA or PSAV. RESULTS: 1634 participants had ⩾3 PSA readings of whom 174 underwent PB and 45 PrCas diagnosed. In men with PSA >3.0 ng ml-l, PSAV was not significantly associated with presence of cancer or high-grade disease. PSAV did not add to PSA for predicting time to an elevated PSA. When comparing BRCA1/2 carriers to non-carriers, we found a significant interaction between BRCA status and last PSA before biopsy (P=0.031) and BRCA2 status and PSAV (P=0.024). However, PSAV was not predictive of biopsy outcome in BRCA2 carriers. CONCLUSIONS: PSA is more strongly predictive of PrCa in BRCA carriers than non-carriers. We did not find evidence that PSAV aids decision-making for BRCA carriers over absolute PSA value alone.

Consumer attitudes towards the establishment of a national Australian familial cancer research database by the Inherited Cancer Connect (ICCon) Partnership.

Clinical genetics units hold large amounts of information which could be utilised to benefit patients and their families. In Australia, a national research database, the Inherited Cancer Connect (ICCon) database, is being established that comprises clinical genetic data held for all carriers of mutations in cancer predisposition genes. Consumer input was sought to establish the acceptability of the inclusion of clinical genetic data into a research database. A qualitative approach using a modified nominal group technique was used to collect data through consumer forums conducted in three Australian states. Individuals who had previously received care from Familial Cancer Centres were invited to participate. Twenty-four consumers participated in three forums. Participants expressed positive attitudes about the establishment of the ICCon database, which were informed by the perceived benefits of the database including improved health outcomes for individuals with inherited cancer syndromes. Most participants were comfortable to waive consent for their clinical information to be included in the research database in a de-identified format. As major stakeholders, consumers have an integral role in contributing to the development and conduct of the ICCon database. As an initial step in the development of the ICCon database, the forums demonstrated consumers' acceptance of important aspects of the database including waiver of consent.

Effectiveness of interventions to indirectly support food and drink intake in people with dementia: Eating and Drinking Well IN dementiA (EDWINA) systematic review.

BACKGROUND: Risks and prevalence of malnutrition and dehydration are high in older people but even higher in older people with dementia. In the EDWINA (Eating and Drinking Well IN dementiA) systematic review we aimed to assess effectiveness of interventions aiming to improve, maintain or facilitate food/drink intake indirectly, through food service or dining environment modification, education, exercise or behavioural interventions in people with cognitive impairment or dementia (across all settings, levels of care and support, types and degrees of dementia). METHODS: We comprehensively searched Medline and twelve further databases, plus bibliographies, for intervention studies with ≥3 cognitively impaired adult participants (any type/stage). The review was conducted with service user input in accordance with Cochrane Collaboration's guidelines. We duplicated assessment of inclusion, data extraction, and validity assessment, tabulating data. Meta-analysis (statistical pooling) was not appropriate so data were tabulated and synthesised narratively. RESULTS: We included 56 interventions (reported in 51 studies). Studies were small and there were no clearly effective, or clearly ineffective, interventions. Promising interventions included: eating meals with care-givers, family style meals, soothing mealtime music, constantly accessible snacks and longer mealtimes, education and support for formal and informal care-givers, spaced retrieval and Montessori activities, facilitated breakfast clubs, multisensory exercise and multicomponent interventions. CONCLUSIONS: We found no definitive evidence on effectiveness, or lack of effectiveness, of specific interventions but studies were small and short term. A variety of promising indirect interventions need to be tested in large, high-quality RCTs, and may be approaches that people with dementia and their formal or informal care-givers would wish to try. TRIAL REGISTRATION: The systematic review protocol was registered (CRD42014007611) and is published, with the full MEDLINE search strategy, on Prospero (http://www.crd.york.ac.uk/PROSPERO/display_record.asp?ID=CRD42014007611).

Effectiveness of interventions to directly support food and drink intake in people with dementia: systematic review and meta-analysis.

BACKGROUND: Eating and drinking difficulties are recognised sources of ill health in people with dementia. In the EDWINA (Eating and Drinking Well IN dementiA) systematic review we aimed to assess effectiveness of interventions to directly improve, maintain or facilitate oral food and drink intake, nutrition and hydration status, in people with cognitive impairment or dementia (across all settings, levels of care and support, types and degrees of dementia). Interventions included oral nutrition supplementation, food modification, dysphagia management, eating assistance and supporting the social element of eating and drinking. METHODS: We comprehensively searched 13 databases for relevant intervention studies. The review was conducted with service user input in accordance with Cochrane Collaboration's guidelines. We duplicated assessment of inclusion, data extraction, and validity assessment, tabulating data, carrying out random effects meta-analysis and narrative synthesis. RESULTS: Forty-three controlled interventions were included, disappointingly none were judged at low risk of bias. Oral nutritional supplementation studies suggested small positive short term but unclear long term effects on nutritional status. Food modification or dysphagia management studies were smaller and of low quality, providing little evidence of an improved nutritional status. Eating assistance studies provided inconsistent evidence, but studies with a strong social element around eating/drinking, although small and of low quality provided consistent suggestion of improvements in aspects of quality of life. There were few data to address stakeholders' questions. CONCLUSIONS: We found no definitive evidence on effectiveness, or lack of effectiveness, of specific interventions but studies were small and short term. People with cognitive impairment and their carers have to tackle eating problems despite this lack of evidence, so promising interventions are listed. The need remains for high quality trials tailored for people with cognitive impairment assessing robust outcomes. SYSTEMATIC REVIEW REGISTRATION: The systematic review protocol was registered (CRD42014007611) and is published, with the full MEDLINE search strategy, on Prospero.

Compartmentalizing genetically encoded calcium sensors.

Within single cells there is a complex myriad of signaling which controls physiological process many of which are modulated, or signaled directly, by intracellular calcium ions. Understanding the exquisitely sensitive, and spatially restricted, changes in calcium has been of interest to the researcher for a number of years. Recent advances in this field have been driven by the development of genetically encoded calcium probes for detecting calcium changes within the cells specifically targeting organelles such as mitochondria, endoplasmic reticulum, and the nucleus. In this chapter the authors outline some of the available fluorescent probes, with particular emphasis on an endoplasmic reticulum targeted calcium biosensor in cell signaling studies with astrocytes, detailing experimental protocols and the interpretation of data from such probes.

A Steinian approach to an empathic understanding of hope among patients and clinicians in the culture of palliative care.

AIM: This article presents a discussion of empathy in the context of human person, reason and hopes in the clinical setting. BACKGROUND: Empathy was introduced to nursing as part of an ethical and philosophical foundation for caring. It helped to solve the tension and meet the demands that empathy placed upon nursing practice. DATA SOURCES: This article is based on two studies undertaken between 2008 and 2010 to understand the concept of hope and empathy among people with terminal cancer and doctors who care for them. Doctoral dissertations and theses of Edith Stein (1916-1917), Marianne Sawicki [Body, Text and Science. The Literary of Investigative Practices and the Phenomenology of Edith Stein (1997) Kluwer Academic Publisher, Dordrecht], and Sister M. Judith Parsons (2005) have been used to examine: 'the essence of acts of empathy', 'the constitution of the psycho-physical individual' and 'empathy as understanding of intellectual persons'. CINAHL, MEDLINE and PROQUEST have provided further supporting data. Discussion. Steinian empathy requires that we use affective resonance, cognitive understanding and distance, as we grasp another person's emotional and situational reality while in the caring role as nurses. Implications for current nursing. Steinian empathy is about recognizing a lived experience and standing side-by-side with that person. Nurses can transmit this knowledge to enable and support courage and wisdom to reduce feelings of helplessness when caring for people with terminal illness. CONCLUSION: Not only is empathy a safe and permissible emotion, it is the linchpin to a caring patient-nurse relationship and we must embrace this.

Outcomes of an early intervention program for children with disruptive behaviour.

OBJECTIVE: Outcomes are presented from a public mental health early intervention program for children aged 5-9 years with disruptive behaviours. METHOD: This was a school-based intervention initiative, delivered within a psychiatric child and adolescent mental health service and includes child, parent and teacher components. Participants were 235 children selected via school-based population assessments. RESULTS: A baseline period was used as a form of control that would demonstrate the stability of problem behaviours. Results showed that during a 26-week baseline period, teachers reported increasing levels of problem behaviour, and that the behaviour was creating increased difficulty in the classroom. The shorter 7-week baseline also showed the difficult behaviours were ongoing. Following the intervention, significant improvements in children's behaviour were seen on the Strengths and Difficulties Questionnaire reported by parents (η(2) = 0.30) and teachers (η(2) = 0.23), and on the parent Eyberg Child Behaviour Inventory (η(2) = 0.35), and teacher Sutter-Eyberg Student Behaviour Inventory (η(2) = 0.22). CONCLUSION: The outcomes show promising results from an early intervention program delivered in schools by a public mental health service and are discussed within the context of dissemination of evidence-based programs though mental health services.

Ever decreasing circles: terminal illness, empowerment and decision-making.

INTRODUCTION: Empowerment is the personal and political processes patients go through to enhance and restore their sense of dignity and self-worth. However, there is much rhetoric surrounding nurses facilitating patients' daily choices and enabling empowerment. Furthermore, there is frequently an imbalance of power sharing, with the patient often obliged to do what the health professional wants them to do. METHOD: This phenomenological study describes the lived experience of patients attending an outpatient clinic of a community hospice. A qualitative study using Max van Manen's phenomenological hermeneutic method was conducted to explore issues surrounding empowerment and daily decision-making with terminally ill patients. The participants' stories became a stimulus for learning about the complexities of autonomy and empowerment. It also engendered reflection and analysis of issues related to power and control inequities in current nursing practices. FINDINGS: The results revealed not only the themes of chaoticum, contracting worlds and capitulation, but that health professionals should be mindful of the level of control they exert. Within the palliative care setting they need to become partners in care, enhancing another person's potential for autonomous choice. CONCLUSION: Empowerment must not be somethingthat simply occurs from within, nor can it be done by another. Intentional efforts by health professionals must enable terminally ill people to be able to stay enlivened and connected with a modicum of autonomy and empowerment over daily decisions, no matter how mundane or monumental they might be.

The clinician's dilemma: borderline personality disorder or bipolar spectrum disorder?

OBJECTIVES: This paper aims to explore the use of science as a basis for introducing bipolar spectrum disorder to conceptualize people who may otherwise be described as having borderline personality disorder, and offer suggestions for the management of clinical dilemmas. CONCLUSIONS: Testable observations, thoughtfulness and humility are helpful in clinical practice.