Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery.

Many families experience difficulty in talking about an inherited genetic condition that affects one or more of them. There have now been a number of studies identifying the issues in detail, however few have developed interventions to assist families. The SPRinG collaborative have used the UK Medical Research Council's guidance on Developing and Evaluating Complex Interventions, to work with families and genetic counsellors (GCs) to co-design a psycho-educational intervention to facilitate family communication and promote better coping and adaptation to living with an inherited genetic condition for parents and their children (<18 years). The intervention is modelled on multi-family discussion groups (MFDGs) used in psychiatric settings. The MFDG was developed and tested over three phases. First focus groups with parents, young people, children and health professionals discussed whether MFDG was acceptable and proposed a suitable design. Using evidence and focus group data, the intervention and a training manual were developed and three GCs were trained in its delivery. Finally, a prototype MFDG was led by a family therapist and co-facilitated by the three GCs. Data analysis showed that families attending the focus groups and intervention thought MFDG highly beneficial, and the pilot sessions had a significant impact on their family' functioning. We also demonstrated that it is possible to train GCs to deliver the MFDG intervention. Further studies are now required to test the feasibility of undertaking a definitive randomised controlled trial to evaluate its effectiveness in improving family outcomes before implementing into genetic counselling practice.The National Institute of Health Research funded the study but any views expressed do not necessarily reflect those of the Authority. Funded by NIHR reference number: RP-DG-1211-10015

Small-Size Resonant Photoacoustic Cell of Inclined Geometry for Gas Detection

A photoacoustic cell intended for laser detection of trace gases is represented. The cell is adapted so as to enhance the gas-detection performance and, simultaneously, to reduce the cell size. The cell design provides an efficient cancellation of the window background (a parasite response due to absorption of laser beam in the cell windows) and acoustic isolation from the environment for an acoustic resonance of the cell. The useful photoacoustic response from a detected gas, window background and noise are analyzed in demonstration experiments as functions of the modulation frequency for a prototype cell with the internal volume ~ 0.5 cm^3. The minimal detectable absorption for the prototype is estimated to be ~ 1.2 10^{-8} cm^{-1} W Hz^{-1/2}.Comment: 11 pages, 5 figure

Suitability of Who Criteria for Quality Assessment in Teenage Boys Undergoing Sperm Banking for Fertility Preservation Prior to Potentially Gonadotoxic Treatment

Background/Objectives: Children who are treated for childhood cancer are exposed to hospitalization, interaction with unfamiliar people in strange environments, and unpleasant, and sometimes, procedures. Having to wait for procedures is one of the worst situations, experienced by child patients. It is therefore important that hospitals provide environments that are non-stressful and safe for children in conjunction with procedures. Especially important, is the possibility for children who are hospitalized to sustain everyday activities, such as play, irrespective of their age and severity of illness. Objective: To assess differences in expenditure of time and dose of anesthetic drugs during sedation for intrathecal chemotherapy in two different environments- the children's ward, where the child was hospitalized, and the operation theatre. Design/Methods: The study is based on retrospective data from repeated treatment sessions recorded in operation planning programs and journals during 2011-2018 (n=164). Children of the ages 1-12 years (n=22) with varying number of treatments were included in the study. Data was analyzed with the Kruskal-Wallis test and post-hoc analyses included the Mann-Whitney Test with Bonferroni correction. Results: The time from the start of the procedure until the start of sedation was significantly lower at the children's ward, which was also the case if including the waiting time before the start of the procedure. No significant differences could be found regarding the dose of anesthetic drugs used. Conclusions: Sedation for intrathecal chemotherapy at the children's ward provides care to a higher extent in accordance with the needs of the child, by reducing the time for the procedure and thus the interference with the child’s everyday life at the hospital. © 2019 Wiley Periodicals, Inc

Knowledge and training in paediatric medical traumatic stress and trauma-informed care among emergency medical professionals in low- and middle-income countries

© 2018, © 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. Background: Provision of psychosocial care, in particular trauma-informed care, in the immediate aftermath of paediatric injury is a recommended strategy to minimize the risk of paediatric medical traumatic stress. Objective: To examine the knowledge of paediatric medical traumatic stress and perspectives on providing trauma-informed care among emergency staff working in low- and middle-income countries (LMICs). Method: Training status, knowledge of paediatric medical traumatic stress, attitudes towards incorporating psychosocial care and barriers experienced were assessed using an online self-report questionnaire. Respondents included 320 emergency staff from 58 LMICs. Data analyses included descriptive statistics, t-tests and multiple regression. Results: Participating emergency staff working in LMICs had a low level of knowledge of paediatric medical traumatic stress. Ninety-one percent of respondents had not received any training or education in paediatric medical traumatic stress, or trauma-informed care for injured children, while 94% of respondents indicated they wanted training in this area. Conclusions: There appears to be a need for training and education of emergency staff in LMICs regarding paediatric medical traumatic stress and trauma-informed care, in particular among staff working in comparatively lower income countries

ФОРМИРОВАНИЕ И СВОЙСТВА НОВЫХ ТИПОВ МЕТАЛЛ-ДИЭЛЕКТРИЧЕСКИХ НАНОСТРУКТУР ДЛЯ СОЗДАНИЯ ОПТИЧЕСКИХ МЕТАМАТЕРИАЛОВ

New technologies of obtaining composite media were studied, which can reveal the properties of metamaterials: porous aluminum oxide films with a system of periodic nanoholes filled with noble metals; multilayer metal-dielectric (including, metal-polymer) nanostructures; polymer films with implemented metal nanoparticles, fish-net polymer structures with metal filling of cells. Dielectric and resonance properties of synthesized structures were investigated; the peculiarities of excitation of new types of quasi-non-diffracting plasmon-polaritons in them were established. The original methods and devices for characterization of optical properties of created composite nanostructures were proposed. The perspectives were shown how to use metamaterials when creating flat superlenses, to manipulate light beam parameters and also resonance-assisted evanescent nanolithography.Рассмотрены технологии получения композитных сред, которые могут проявлять свойства метаматериалов: пористых пленок оксида алюминия с системой периодических наноотверстий, заполненных благородными металлами; многослойных металл-диэлектрических (в том числе металл-полимерных) наноструктур; полимерных пленок с внедренными металлическими наночастицами; сетчатых полимерных структур с металлическим заполнением ячеек. Исследованы диэлектрические и резонансные свойства синтезированных структур, установлены особенности возбуждения в них новых типов квазибездифракционных плазмон-поляритонов. Предложены оригинальные методы и устройства для характеризации оптических свойств созданных композитных наноструктур. Показана перспективность использования метаматериалов при создании плоских суперлинз, управления параметрами световых пучков, а также для резонансно-усиленной эванесцентной нанолитографии. 

Training Genetic Counsellors to Deliver an Innovative Therapeutic Intervention: their views and experience of facilitating multi-family discussion groups

Innovations in clinical genetics have increased diagnosis, treatment and prognosis of inherited genetic conditions (IGCs). This has led to an increased number of families seeking genetic testing and / or genetic counselling and increased the clinical load for genetic counsellors (GCs). Keeping pace with biomedical discoveries, interventions are required to support families to understand, communicate and cope with their Inherited Genetic Condition. The Socio-Psychological Research in Genomics (SPRinG) collaborative have developed a new intervention, based on multi-family discussion groups (MFDGs), to support families affected by IGCs and train GCs in its delivery. A potential challenge to implementing the intervention was whether GCs were willing and able to undergo the training to deliver the MFDG. In analysing three multi-perspective interviews with GCs, this paper evaluates the training received. Findings suggests that MFDGs are a potential valuable resource in supporting families to communicate genetic risk information and can enhance family function and emotional well-being. Furthermore, we demonstrate that it is feasible to train GCs in the delivery of the intervention and that it has the potential to be integrated into clinical practice. Its longer term implementation into routine clinical practice however relies on changes in both organisation of clinical genetics services and genetic counsellors' professional development

Transactional paths between children and parents in pediatric asthma: Associations between family relationships and adaptation

Introduction. The particular challenges posed by pediatric asthma may have a negative impact on the adaptation of children and their parents. From a transactional approach it is important to examine how reciprocal links between children and parents contribute to explain their adaptation and under which conditions these associations occur. This cross-sectional study aimed at examining the direct and indirect links between children’s and parents’ perceptions of family relationships and adaptation, separately (within-subjects) and across participants (cross-lagged effects), and the role of asthma severity in moderating these associations. Method. The sample comprised 257 children with asthma, aged between 8 and 18 years-old, and one of their parents. Both family members completed self-reported questionnaires on family relationships (cohesion and expressiveness) and adaptation indicators (quality of life and psychological functioning). Physicians assessed asthma severity. Structural Equation Modeling was used to test within-subjects and cross-lagged paths between children’s and parents’ family relationships and adaptation. Results. The model explained 47% of children’s and 30% of parents’ adaptation: family relationships were positively associated with adaptation, directly for children and parents, and indirectly across family members. Asthma severity moderated the association between family relationships and health-related quality of life for children: stronger associations were observed in the presence of persistent asthma. Conclusion. These results highlight the need of including psychological interventions in pediatric healthcare focused on family relationships as potential targets for improving children’s and parents’ quality of life and psychological functioning, and identified the children with persistent asthma as a group that would most benefit from family-based interventions.This study was supported by the R&D Unit Institute of Cognitive Psychology, Vocational and Social Development of the University of Coimbra (PEst-OE/PSI/UI0192/2011) and by the Portuguese Foundation for Science and Technology (PhD Grant SFRH/BD/69885/2010)

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life

Parents of children with chronic disorders have an impaired health-related quality of life (HRQoL) compared to parents of healthy children. Remarkably, parents of children with a metabolic disorder reported an even lower HRQoL than parents of children with other chronic disorders. Possibly, the uncertainty about the course of the disease and the limited life expectancy in many metabolic disorders are important factors in the low parental HRQoL. Therefore, we performed a cross-sectional study in parents of children with phenylketonuria (PKU, OMIM #261600) and galactosemia (OMIM #230400), metabolic disorders not affecting life expectancy, in order to investigate their HRQoL compared to parents of healthy children and to parents of children with other metabolic disorders. A total of 185 parents of children with PKU and galactosemia aged 1-19 years completed two questionnaires. Parents of children with PKU or galactosemia reported a HRQoL comparable to parents of healthy children and a significantly better HRQoL than parents of children with other metabolic disorders. Important predictors for parental mental HRQoL were the psychosocial factors emotional support and loss of friendship. As parental mental functioning influences the health, development and adjustment of their children, it is important that treating physicians also pay attention to the wellbeing of the parents. The insight that emotional support and loss of friendship influence the HRQoL of the parents enables treating physicians to provide better support for these parents

Genotypic and ecological variability of zinc content in the grain of spring bread wheat varieties in the international nursery KASIB

Spring bread wheat is the staple crop in Western Siberia and Kazakhstan, a significant portion of which goes for export. Wheat breeding with a high level of zinc in wheat grain is the most cost-effective and environmentally friendly way to address zinc de iciency in the diet. The purpose of this work was to evaluate the contribution of the factors ‘location’ and ‘genotype’ in the variability of zinc content in wheat grain, and to identify the best varieties as sources of this trait for breed-ing. The research on screening zinc content in the wheat grain of 49 spring bread wheat varieties from the Kazakhstan-Siberia Spring Wheat Trial (KASIB) nursery was carried out at 4 sites in Russia (Chelyabinsk, Omsk, Tyumen, Novosibirsk) and 2 sites in Kazakhstan (Karabalyk and Shortandy) in 2017–2018. The content of zinc in wheat grain was evaluated at the Ionomic Facility of University of Nottingham in the framework of the EU pro ject European Plant Phenotyping Network-2020. The analysis of variance showed that the main contribution into the general phenotypic variation of the studied trait, 38.7 %, was made by the factor ‘location’ due to different contents of zinc and moisture in the soil of trial sites; the effect of the factor ‘year’ was 13.5 %, and the effect of the factor ‘genotype’ was 8.0 %. The most favorable environmental conditions for accumulation of zinc in wheat grain were observed in the Omsk region. In Omsk, the average zinc content in all studied varieties was 50.4 mg/kg, with 63.7 mg/ kg in the best variety ‘OmGAU 100’. These values are higher than the target values of the international program Harvest Plus. ‘Novosibirskaya 16’ (49.4 mg/kg), ‘Silach’ (48.4 mg/kg), ‘Line 4-10-16’ (47.2 mg/ kg), ‘Element 22’ (46.3 mg/kg) and ‘Lutescens 248/01’ (46.0 mg/kg) were identi ied as being the best varieties. Significant possibilities for the production of wheat grain with high zinc content, which is in demand for the production of bread and pastry products with functional properties, were identified in the Western Siberian region