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First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations detected in 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families detected 2 partial gene deletions, 3 novel mutations, and 5 recurrent mutations as the germline RUNX1 alterations leading to FPD-MM. Combining genomic data from the families reported herein with aggregated published data sets resulted in 130 germline RUNX1 families, which allowed us to investigate whether specific germline mutation characteristics (type, location) could explain the large phenotypic heterogeneity between patients with familial platelet disorder and different HMs. Comparing the somatic mutational signatures between the available familial (n = 35) and published sporadic (n = 137) RUNX1-mutated AML patients showed enrichment for somatic mutations affecting the second RUNX1 allele and GATA2. Conversely, we observed a decreased number of somatic mutations affecting NRAS, SRSF2, and DNMT3A and the collective genes associated with CHIP and epigenetic regulation. This is the largest aggregation and analysis of germline RUNX1 mutations performed to date, providing a unique opportunity to examine the factors underlying phenotypic differences and disease progression from FPD to MM.

Plain English summary Involving people in health research is increasingly recognised as being important to make sure that research is focused more on the needs of people who use health services. At present, ideas about what should be researched most often comes from researchers and/or health professionals like doctors and nurses rather than people with a lived experience of mental illness. In this study, we will talk with this group of people from across Wales to explore what they think research into their health services should focus on. The findings from this work will help to influence the work of the National Centre for Mental Health Research Partnership Group; as well as` researchers and health professionals and others who concentrate on mental health research. The Research group is a partnership between people with a lived experience of mental ill health and professionals with an interest in mental ill health. The group plan to take forward the ideas that came from this research and some of the ideas have already been used to increase funding in the area of mental health research. Abstract Background This paper is the result of continued collaboration between members of the Service User and Carer Research Partnership, based in Wales and supported by the National Centre for Mental Health, Health and Care Research Wales, and Hafal. The aim of this study was to explore the research priorities of people with experience of mental health services which include people with a lived experience of mental ill health, their carers, and professionals. Method A nominal group technique was used to gather data. A one-day workshop ‘Getting Involved in Research: Priority Setting’ was held to gather the ideas and suggestions for research priorities from people who have experience of mental health services. Results Twenty-five participants attended the workshop. 5 were mental health professionals, 20 had a lived experience of mental ill health, (of which 3 were also carers). 11 were male and 14 were female. 120 research ideas were generated across 6 ‘Ideas Generating Workstations’. Participants took part in a 3 stage vote to narrow down the ideas to 2 main research priorities. Conclusion The two main research priority areas that were identified:‘Developing the knowledge of mental health issues amongst school-aged children’ as a vehicle to overcome stigma and discrimination, and to support young people to manage their own mental health.‘Developing education as a tool for recovery’, for example by peer support. In addition, participants engaged in a notable discussion over the research priority: ‘How are carers supported during the recovery of the person for whom they care?’

Introduction and hypothesis There has been an increasing need for the terminology on the conservative management of female pelvic floor dysfunction to be collated in a clinically based consensus report.Methods This Report combines the input of members and elected nominees of the Standardization and Terminology Committees of two International Organizations, the International Urogynecological Association ( IUGA) and the International Continence Society ( ICS), assisted at intervals by many external referees. An extensive process of nine rounds of internal and external review was developed to exhaustively examine each definition, with decision-making by collective opinion ( consensus). Before opening up for comments on the webpages of ICS and IUGA, five experts from physiotherapy, neurology, urology, urogynecology, and nursing were invited to comment on the paper.Results A Terminology Report on the conservative management of female pelvic floor dysfunction, encompassing over 200 separate definitions, has been developed. It is clinically based, with the most common symptoms, signs, assessments, diagnoses, and treatments defined. Clarity and ease of use have been key aims to make it interpretable by practitioners and trainees in all the different specialty groups involved in female pelvic floor dysfunction. Ongoing review is not only anticipated, but will be required to keep the document updated and as widely acceptable as possible.Conclusion A consensus-based terminology report for the conservative management of female pelvic floor dysfunction has been produced, aimed at being a significant aid to clinical practice and a stimulus for research.

This paper is a report of a study exploring the extent and management of bladder and bowel problems in order to inform the provision and practice of prison nursing services and health care services in women's prisons.Nurses and general practitioners provide primary care services inside prisons in the United Kingdom. While high levels of mental health and addiction problems in women prisoners are recognized, there has been less focus on physical problems. Incontinence symptoms are perceived as shameful and stigmatizing, and frequently help is not sought from healthcare professionals. Guidance for assessing prisoner health does not refer to bladder and bowel symptoms.Women prisoners in a large, closed prison in the United Kingdom were surveyed in 2005 using an anonymous self-completed questionnaire. Women resident in the detoxification unit and the hospital unit, absent from their unit at the time of questionnaire distribution or deemed vulnerable by prison health staff were excluded.Questionnaires were offered to 283 women and 246 agreed to take it. Of those taken, 148 (60%) were returned. Twenty-four per cent indicated that they disclosed information about bladder and bowel problems in the survey not previously disclosed to anyone else. Forty-three per cent reported urinary symptoms. Five per cent reported nocturnal enuresis. The majority of women with symptoms reported using sanitary pads and toilet paper for containment of leakage.Prison nurses and nurse practitioners involved in reception into prison assessments should ask direct but sensitive questions about women's bladder and bowel symptoms.

Millions of individuals around the world suffer from urinary incontinence. This article discusses worldwide urinary incontinence, and the use of information and communication technology to facilitate global nursing collaboration.