Parent-related stress of male and female carers of adolescents with intellectual disabilities and carers of children within the general population:a cross-sectional comparison

Background Carers of children with intellectual disability show high rates of parent-related stress and are at an increased risk for deleterious physical and mental health. Materials and Methods This study investigated the relationship between demographic and social characteristics and parenting stress, within two different cross-sectional samples of carers: those who care for an adolescent with an intellectual disability and carers from a population based sample. Participants were 1152 carers from the Household Income and Labour Dynamics in Australia study and 284 carers of adolescents with intellectual disabilities from the Ask study. Results and Conclusions The results supported previous research suggesting carers of children with intellectual disabilities experience high parent-related stress. The results also support the buffer model of social support, as high social support was related to lower parent related stress. Self-rated prosperity, financial pressure and relationship status were also related to lower levels of parent-related stress

The Oryza BAC resource: A genus-wide and genome scale tool for exploring rice genome evolution and leveraging useful genetic diversity from wild relatives

Rice was the first crop to have a high-quality reference genome sequence and is now at the forefront of intense functional and evolutionary research for two reasons-its central role in world food security, and its status as a model system for grasses. A thorough characterization of the rice genome cannot be accomplished without a deep understanding of its evolutionary history. The genus Oryza contains two cultivated and 22 wild rice species that represent 10 distinct genome types embedded within a robust phylogeny spanning a ~15 million year time span. The genus contains an untapped reservoir of agriculturally important traits and a historical record of genomic changes (especially those related to domestication, polyploidy, speciation and adaption).The two main objectives of the 'Oryza Map Alignment Project' (OMAP) were to functionally characterize the rice genome from a comparative standpoint and to provide essential tools to leverage the novel genetic diversity from wild relatives for rice improvement. The objective of this review is to summarize our efforts towards developing the most comprehensive genus-wide set of publicly available BAC resources for the genus Oryza, the first of its kind among plants (and perhaps higher eukaryotes), and their applications

Influence of an outpatient multidisciplinary pain management program on the health-related quality of life and the physical fitness of chronic pain patients

BACKGROUND: Approximately 10 to 20 percent of the population is suffering from chronic pain. Since this represents a major contribution to the costs of the health care system, more efficient measures and interventions to treat these patients are sought. RESULTS: The development of general health and physical activity of patients with chronic pain was assessed in an interdisciplinary outpatient pain management program (IOPP). 36 patients with an average age of 48 years were included in the IOPP. Subjective assessment of well-being was performed at five time points (baseline, post intervention and 3, 6, and 12 months thereafter) by using standardized questionnaires. The study focused on the quality of life survey Medical Outcomes Study Short Form-36, which is a validated instrument with established reliability and sensitivity. In addition, the patients participated in physical assessment testing strength, power, endurance, and mobility. Prior to therapy a substantial impairment was found on different levels. Marked improvements in the psychological parameters were obtained by the end of the program. No success was achieved with regard to the physical assessments. CONCLUSION: Although many different studies have evaluated similar programs, only few of them have attained positive results such as improvements of general quality of life or of physical strength. Often no difference from the control group could be detected only some months after the intervention. In the present study no significant persistent improvement of well-being occurred. Possible reasons are either wrong instruments, wrong selection of patients or wrong interventions

Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Next-generation sequencing (NGS) provides an unprecedented opportunity to assess genetic variation underlying human disease. Here, we compared two NGS approaches for diagnostic sequencing in inherited arrhythmia syndromes. We compared PCR-based target enrichment and long-read sequencing (PCR-LR) with in-solution hybridization-based enrichment and short-read sequencing (Hyb-SR). The PCR-LR assay comprehensively assessed five long-QT genes routinely sequenced in diagnostic laboratories and "hot spots" in RYR2. The Hyb-SR assay targeted 49 genes, including those in the PCR-LR assay. The sensitivity for detection of control variants did not differ between approaches. In both assays, the major limitation was upstream target capture, particular in regions of extreme GC content. These initial experiences with NGS cardiovascular diagnostics achieved up to 89 % sensitivity at a fraction of current costs. In the next iteration of these assays we anticipate sensitivity above 97 % for all LQT genes. NGS assays will soon replace conventional sequencing for LQT diagnostics and molecular pathology

Next Generation Diagnostics in Inherited Arrhythmia Syndromes A Comparison of Two Approaches

Abstract Next-generation sequencing (NGS) provides an unprecedented opportunity to assess genetic variation underlying human disease. Here, we compared two NGS approaches for diagnostic sequencing in inherited arrhythmia syndromes. We compared PCR-based target enrichment and long-read sequencing (PCR-LR) with in-solution hybridization-based enrichment and short-read sequencing (Hyb-SR). The PCR-LR assay comprehensively assessed five long-QT genes routinely sequenced in diagnostic laboratories and "hot spots" in RYR2. The Hyb-SR assay targeted 49 genes, including those in the PCR-LR assay. The sensitivity for detection of control variants did not differ between approaches. In both assays, the major limitation was upstream target capture, particular in regions of extreme GC content. These initial experiences with NGS cardiovascular diagnostics achieved up to 89 % sensitivity at a fraction of current costs. In the next iteration of these assays we anticipate sensitivity above 97 % for all LQT genes. NGS assays will soon replace conventional sequencing for LQT diagnostics and molecular pathology

Advice or exercise for chronic whiplash disorders? Design of a randomized controlled trial

BACKGROUND: Whiplash-associated disorder (or "whiplash") is a common condition incurring considerable expense in social and economic terms. A lack of research on effective therapy for patients with chronic whiplash associated disorders prompted the design of the current study. The primary aim of this randomised controlled trial is to determine the effects of a physical activity program for people with chronic (symptoms of > 3 months duration) whiplash. A secondary aim is to determine if pain severity, level of disability and fear of movement/(re)injury predict response to a physical activity program. METHODS / DESIGN: This paper presents the rationale and design of a randomised controlled trial examining the effects of advice and individualized sub-maximal exercise programs in the treatment of whiplash associated disorders. DISCUSSION: This paper highlights the design, methods and operational aspects of a significant clinical trial in the area of whiplash and chronic pain

Dual expression and anatomy lines allow simultaneous visualization of gene expression and anatomy

Studying the developmental genetics of plant organs, requires following gene expression in specific tissues. To facilitate this, we have developed the Dual Expression Anatomy Lines (DEAL), which incorporate a red plasma membrane marker alongside a fluorescent reporter for a gene of interest in the same vector. Here, we adapted the GreenGate cloning vectors to create two destination vectors showing strong marking of cell membranes in either the whole root or specifically in the lateral roots. This system can also be used in both embryos and whole seedlings. As proof of concept, we follow both gene expression and anatomy in Arabidopsis (Arabidopsis thaliana) during lateral root organogenesis for a period of over 24h,. and cCoupled with the development of a flow cell and perfusion system, we follow changes in activity of the DII auxin sensor following application of auxin

Effective peer-to-peer support for young people with end-stage renal disease: a mixed methods evaluation of Camp COOL

__Abstract__ __Background__ The Camp COOL programme aims to help young Dutch people with end-stage renal disease (ESRD) develop self-management skills. Fellow patients already treated in adult care (hereafter referred to as ‘buddies’) organise the day-to-day program, run the camp, counsel the attendees, and also participate in the activities. The attendees are young people who still have to transfer to adult care. This study aimed to explore the effects of this specific form of peer-to-peer support on the self-management of young people (16–25 years) with ESRD who participated in Camp COOL (CC) (hereafter referred to as ‘participants’). __Methods__ A mixed methods research design was employed. Semi-structured interviews (n = 19) with initiators/staff, participants, and healthcare professionals were conducted. These were combined with retrospective and pre-post surveys among participants (n = 62), and observations during two camp weeks. __Results__ Self-reported effects of participants were: increased self-confidence, more disease-related knowledge, feeling capable of being more responsible and open towards others, and daring to stand up for yourself. According to participants, being a buddy or having one positively affected them. Self-efficacy of attendees and independence of buddies increased, while attendees’ sense of social inclusion decreased (measured as domains of health-related quality of life). The buddy role was a pro-active combination of being supervisor, advisor, and leader. __Conclusions__ Camp COOL allowed young people to support each other in adjusting to everyday life with ESRD. Participating in the camp positively influenced self-management in this group. Peerto- peer support through buddies was much appreciated. Support from young adults was not only beneficial for adolescent attendees, but also for young adult buddies. Paediatric nephrologists are encouraged to refer patients to CC and to facilitate such initiatives. Together with nephrologists in adult care, they could take on a role in selecting buddies