Molecular Medicine and Molecular Pathology for Haematologists:I. Gene Speak made Easy: An Overview of Genes and Gene Expression

Molecular Medicine and Molecular Pathology are integral parts of Haematology as we enter the new millennium. Their origins can be linked to fundamental developments in the basic sciences, particularly genetics, chemistry and biochemistry. The structure of DNA and the genetic code that it encrypts are the critical starting points to our understanding of these new disciplines. The genetic alphabet is a simple one, consisting of just 4 letters, buts its influence is crucial to human development and differentiation. The concept of a gene is not a new one but the Human Genome Project (a joint world-wide effort to characterise our entire genetic make-up) is providing an invaluable understanding of how genes function in normal cellular processes and pinpointing how disruption of these processes can lead to disease. Transcription and translation are the key events by which our genotype is converted to our phenotype (via a messenger RNA intermediate), producing the myriad proteins and enzymes which populate the cellular factory of our body. Unlike the bacterial or prokaryotic genome, the human genome contains a large amount of non coding DNA (less than 1% of our genome codes for proteins), and our genes are interrupted, with the coding regions or exons separated by non coding introns. Precise removal of the intronic material after transcription (though a process called splicing) is critical for efficient translation to occur. Incorrect splicing can lead to the generation of mutant proteins, which can have a dilaterious effect on the phenotype of the individual. Thus the 100,000-200,000 genes which are present in each cell in our body have a defined control mechanism permitting efficient and appropriate expression of proteins and enzymes and yet a single base change in just one of those genes can lead to diseases such as haemophilia or fanconis anaemia.

A “Child’s Rights Perspective”: The “Right” of Children and Young People to Participate in Health Care Research

As all human beings are consumers of health care provision across the life span and in receipt of care delivered by accountable health care professionals, all should have the right to be involved in shaping the future of their own health care. Rights-based participation, when applied successfully, has the potential to inform and influence the delivery of child health care, the child’s experience of health care, plus children’s nursing education (Coyne & Gallagher, 2011). The “right” of every child and young person to participate in research that relates to their own health care is also sustained by the author’s lead position as a Senior Lecturer in Higher Education for pre-registration children’s nursing in Northern Ireland and the appreciation of their voice when practicing as a registered children’s nurse and ward sister. The report provides an insight into seminal work on human and child rights; the historical context of children in Western society, and the evolution of children’s nursing amid the child’s right to participate in shaping their own health care.

Dedicated severe asthma services improve health-care use and quality of life

Background: Systematic assessment of severe asthma can be used to confirm the diagnosis, identify comorbidities, and address adherence to therapy. However, the prospective usefulness of this approach is yet to be established. The objective of this study was to determine whether the systematic assessment of severe asthma is associated with improved quality of life (QoL) and health-care use and, using prospective data collection, to compare relevant outcomes in patients referred with severe asthma to specialist centers across the United Kingdom. Methods: Data from the National Registry for dedicated UK Difficult Asthma Services were used to compare patient demographics, disease characteristics, and health-care use between initial assessment and a median follow-up of 286 days. Results: The study population consisted of 346 patients with severe asthma. At follow-up, there were significant reductions in health-care use in terms of primary care or ED visits (66.4% vs 87.8%, P < .0001) and hospital admissions (38% vs 48%, P = .0004). Although no difference was noted in terms of those requiring maintenance oral corticosteroids, there was a reduction in steroid dose (10 mg [8-20 mg] vs 15 mg [10-20 mg], P = .003), and fewer subjects required short-burst steroids (77.4% vs 90.8%, P = .01). Significant improvements were seen in QoL and control using the Asthma Quality of Life Questionnaire and the Asthma Control Questionnaire. Conclusions: To our knowledge, this is the first time that a prospective study has shown that a systematic assessment at a dedicated severe asthma center is associated with improved QoL and asthma control and a reduction in health-care use and oral steroid burden.

Health care professionals’ experience, understanding and perception of need of advanced cancer patients with cachexia and their families: The benefits of a dedicated clinic.

Background: Cachexia has been defined as an on-going loss of skeletal muscle mass that cannot be fully reversed by conventional nutritional support. It can be found in up to 80% of patients with advanced cancer and has profound psycho-social consequences for patients and their families. There is a paucity of studies examining the role and experience of healthcare professionals in relation to cachexia and existing studies suggest that professional staff have limited understanding and do not intervene effectively.
Aim: To identify barriers and facilitators to good practice in cachexia care in order to inform future developments in service provision.
Design: An exploratory qualitative study was conducted employing semi-structured interviews with a range of healthcare professionals recruited purposefully from an Australian hospital. Interviews were conducted in private rooms within the hospital.
Setting/participants: A range of healthcare professionals responsible for cancer care were recruited from a large Australian teaching hospital.
Results: Interviews were conducted with 8 healthcare professionals responsible for delivering cancer care. Four themes were identified: formal and informal education, knowledge and understanding, truth telling in cachexia and palliative care, and, a multi-disciplinary approach. Findings show how improved knowledge and understanding across a staff body can lead to improved staff confidence and a willingness to address cancer cachexia and its consequences with patients and their families.
Conclusion: Comparison with previous studies illustrates the importance of improving knowledge and understanding about cachexia and how this can contribute to staff having the skills and experience necessary to address cachexia and provide an improved care experience for patients and carers.

Perceptions of high involvement work practices, person-organization fit and burnout: a time lagged study of health care employees

Previous research demonstrates that high-involvement work practices (HIWPs) may be associated with burnout (emotional exhaustion and depersonalization); however, to date, the process through which HIWPs influence burnout is not clear. This article examined the impact of HIWPs on long-term burnout (emotional exhaustion and depersonalization) by considering the mediating role of person-organization fit (P-O fit) in this relationship. The study used a time-lagged design and was conducted in a Canadian general hospital among health care personnel. Findings from structural equation modeling (N = 185) revealed that perceived HIWPs were positively associated with P-O fit. There was no direct effect of HIWPs on burnout; rather, P-O fit fully mediated the relationship between employee perceptions of HIWPs and burnout. This study fills a void in the HR and burnout literature by demonstrating the role that P-O fit has in explaining how HIWPs alleviate emotional exhaustion and depersonalization. © 2016 Wiley Periodicals, Inc.

‘Disability and HIV in Africa: Breaking the barriers to sexual health care’

Three decades in to the HIV pandemic, the issues affecting people with disabilities remains less known. Increasing attention has been given to this overlooked population when it comes to HIV prevention, treatment and care. This is related to the significant unmet sexual and reproductive health care needs facing people with disabilities worldwide. This article discusses the barriers to sexual health for people with disabilities in Africa, and presents an argument about how mainstream HIV prevention work and research does not adequately attend to the sorts of systemic barriers that exclude people with disabilities, which a more targeted, and critical approach could.

Heterotopias of mental health care: The role of space in experiences of distress, madness and mental health service use.

The change from an institutional to community care model of mental health services can be seen as a fundamental spatial change in the lives of service users (Payne, 1999; Symonds & Kelly, 1998; Wolch & Philo, 2000). It has been argued that little attention has been paid to the experience of the specific sites of mental health care, due to a utopic (idealised and placeless) idea of ‘community’ present in ‘community care’ (Symonds, 1998). This project hence explored the role of space in service users’ experiences, both of mental health care, and community living. Seventeen ‘spatial interviews’ with service users, utilising participatory mapping techniques (Gould & White, 1974; Herlihy & Knapp, 2003; Pain & Francis, 2003), plus seven, already published first person narratives of distress (Hornstein, 2009), were analysed using thematic analysis (Braun & Clarke, 2006). Mental health service sites are argued to have been described as heterotopias (Foucault, 1986a) of a ‘control society’ (Deleuze, 1992), dominated by observation and the administration of risk (Rose, 1998a), which can in turn be seen to make visible (Hetherington, 2011) to service users a passive and stigmatised subject position (Scheff, 1974; 1999). Such visible positioning can be seen to ‘modulate’ (Deleuze, 1992) participants’ experiences in mainstream space. The management of space has hence been argued to be a central issue in the production and management of distress and madness in the community, both in terms of a differential experience of spaces as ‘concordant’ or ‘discordant’ with distress, and with movement through space being described as a key mediator of experiences of distress. It is argued that this consideration of space has profound implications for the ‘social inclusion’ agenda (Spandler, 2007; Wallcraft, 2001).

Obama's law : analysis of a breakthrough law on healthcare access and lessons for the Portuguese health system management

ABSTRACT - The Patient Protection and Affordable Care Act shook the foundations of the US health system, offering all Americans access to health care by changing the way the health insurance industry works. As President Obama signed the Act on 23 March 2010, he said that it stood for “the core principle that everybody should have some basic security when it comes to their health care”. Unlike the U.S., the Article 64 of the Portuguese Constitution provides, since 1976, the right to universal access to health care. However, facing a severe economic crisis, Portugal has, under the supervision of the Troika, a tight schedule to implement measures to improve the efficiency of the National Health Service. Both countries are therefore despite their different situation, in a conjuncture of reform and the use of new health management measures. The present work, using a qualitative research methodology examines the Affordable Care Act in order to describe its principles and enforcement mechanisms. In order to describe the reality in Portugal, the Portuguese health system and the measures imposed by Troika are also analyzed. The intention of this entire analysis is not only to disclose the innovative U.S. law, but to find some innovative measures that could serve health management in Portugal. Essentially we identified the Exchanges and Wellness Programs, described throughout this work, leaving also the idea of the possibility of using them in the Portuguese national health system.

Self-reported health needs and use of primary health care services by adolescents enrolled in post-mandatory schools or vocational training programmes in Switzerland.

BACKGROUND: The second Swiss Multicenter Adolescent Survey on Health (SMASH02) was conducted among a representative sample (n = 7428) of students and apprentices aged 16 to 20 from the three language areas of Switzerland during the year 2002. This paper reports on health needs expressed by adolescents and their use of health care services over the 12 months preceding the survey. METHODS: Nineteen cantons representing 80% of the resident population agreed to participate. A complex iterative random cluster sample of 600 classes was drawn with classes as primary sampling unit. The participation rate was 97.7% for the classes and 99.8% for the youths in attendance. The self-administered questionnaire included 565 items. The median rate of item non-response was 1.8%. Ethical and legal requirements applying to surveys of adolescent populations were respected. RESULTS: Overall more than 90% of adolescents felt in good to excellent health. Suffering often or very often from different physical complaints or pain was also reported such as headache (boys: 15.9%, girls: 37.4%), stomach-ache (boys: 9.7%, girls: 30.0%), joint pain (boys: 24.7%, girls: 29.5%) or back pain (boys: 24.3%, girls: 34.7%). Many adolescents reported a need for help on psychosocial and lifestyle issues, such as stress (boys: 28.5%, girls: 47.7%) or depression (boys: 18.9%, girls: 34.4%). Although about 75% of adolescents reported having consulted a general practitioner and about one-third having seen another specialist, reported reasons for visits do not correspond to the expressed needs. Less than 10% of adolescents had visited a psychiatrist, a family planning centre or a social worker. CONCLUSIONS: The reported rates of health services utilisation by adolescents does not match the substantial reported needs for help in various areas. This may indicate that the corresponding problems are not adequately detected and/or addressed by professionals from the health and social sectors.

Wellness and balance: perceptions amongst female health care professionals negotiating career, family, and continuing education /

The purpose ofthis study was to explore the perceptions of wellness and bidance amongst female health care professionals negotiating career, family aiul continuing education commitments. Five women who met the criteria of having a family (with children), holding a full-time professional career in health care, and who were presently pursuing continuing education were interviewed. This paper begins with the introduction to the topic of research and the questions to be answered. The review of literature explores the theory and research A^ch precede this study and addresses the surrounding areas of: wellness, balance, multiple roles, stress and continuing education. < This study has assumed a qualitative, phenomenological approach. The data collected through the use of individual interviews were analyzed using a two-part process. Analysis using both (a) methodological interpretation and (b) The Listening Guide method has allowed for the uncovering of major themes, and the portrayal of each participant's unique experience. Some of the major themes which emerged from this research include: wellness as multidimensional and fluctuating, making personal sacrifices, the presence of stress, professional as a vital role, and continuing education as something for me. Perhaps the most significant finding this research has identified is the positive role continuing education can hold in the lives of women already negotiating multiple commitments. The notion that continuing education can act as a means of enhancing perceptions of wellness and balance holds a number of implications in theory, practice, and for future research.