Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). Mutations of the AKT3 gene have been reported in a few individuals with brain malformations, to date. Therefore, our understanding regarding the clinical and molecular spectrum associated with mutations of this critical gene is limited, with no clear genotype-phenotype correlations.

Mephedrone: use, subjective effects and health risks.

Aims: To assess the patterns of use, subjective effect profile and dependence liability of mephedrone, supported by corroborative urine toxicology.

Design: Cross-sectional structured telephone interview.

Setting: UK-based drug users associated with the dance music scene.

A qualitative exploration of the nature of domestic violence in pregnancy.

This article presents a small, qualitative study of 16 women who had experienced domestic violence in the previous 12 months. The violence was perpetrated by a current or former partner in all but one case. Ten of the 16 women had experienced domestic violence during their recent pregnancy, of whom four women had also been assaulted in at least one previous pregnancy.

An evaluation of the acute impact of pursed lips breathing on walking distance in nonspontaneous pursed lips breathing chronic obstructive pulmonary disease patients.

This study was designed to test the effects of pursed lips breathing (PLB) during exercise in patients with chronic obstructive pulmonary disease (COPD) who did not spontaneously perform PLB. Sixty-nine COPD patients, mean FEV1 (SD) 1.09 (0.

Doing criticism in 'symbiotic niceness': a study of palliative care nurses' talk.

This paper examines how palliative care nurses do criticism of other professionals in talk within settings for care of the dying (two hospices and one general hospital). Strategies for the production of moral identities include the use of direct criticism, indirect criticism and quoted speech, hence 'inverted comma criticism'. Criticism is done through the construction and reconstruction of 'atrocity stories'.

Assessing the value of the internet in health improvement.

The internet is a powerful tool that provides easy access to information. Many people access it for health information and bring the material gathered to health appointments. However, the information may not always be correct or adequately monitored for quality.

Continuing professional development: does it make a difference?

Continuing professional development (CPD) is costly in terms of both organizational resources and personal time and effort. It forms an important part of the strategy for modernizing the health service and is an expectation of qualified nurses. There is little evidence to demonstrate the impact of CPD in terms of improved patient care and services.

Interpretation of arterial blood gases: a clinical guide for nurses.

Arterial blood gas analysis has become an essential skill for all healthcare practitioners. It provides important information with regard to adequacy of ventilation, oxygen delivery to the tissues and acid-base balance. Although each patient's clinical presentation will be judged individually, situations that warrant analysis of a blood gas sample include respiratory compromise, post-cardiorespiratory arrest, evaluation of interventions such as oxygen therapy, respiratory support and as a baseline before surgery.

Assessment and management of eating skills in the older adult.

Malnutrition can lead to a number of health problems in older people. Good assessment of the older person's eating skills is as important as a nutritional assessment in at-risk groups and eating skills should be assessed using a holistic framework. In many cases adaptation of the environment and eating aids can assist in the maintenance of independent eating.

Nutrition support in palliative care.

Nutrition is an important aspect of caring for patients with life-threatening illness. Good nutrition support is essential, not only for meeting the body's physical requirements but also because of associated social, cultural and psychological benefits for patients. The author uses examples from cancer and motor neurone disease to illustrate the nutrition needs, legal and ethical issues and specific symptoms that affect dietary intake in patients receiving palliative care.

Student nurses' knowledge of palliative care: evaluating an education module.

There is evidence that education in palliative care in the UK is somewhat patchy and that this important area of health care should be given a greater emphasis in the nursing curriculum. This article describes an evaluation of a palliative care module taken by a group of third year student nurses. The effect of the module was evaluated using the palliative care quiz for nursing (PCQN), administered at the beginning and at the end of the module.

A general overview of the cancer education needs of non-specialist staff.

The aim of this study was to identify the cancer education needs of non-specialist staff. A qualitative design was used involving focus groups, individual and paired interviews, focusing on specialist staff, non-specialist staff and patients. Six key areas were identified where staff indicated a need for education and training.

Education and training of healthcare staff: the barriers to its success.

On-going developments in Britain's healthcare services are placing great demands on its workforce. If high quality care is to be maintained, education and training is needed to provide staff with the necessary knowledge and skills to adapt to their changing roles. A recent research project looking at the education and training needs of non-specialist staff caring for people with cancer identified a number of barriers that prevent education and training from meeting its full potential.

Screening for dysphagia and aspiration in acute stroke: a systematic review.

Stroke is a common problem, producing a variety of neurological problems that affect eating. Dysphagia is a particular concern because of its potential for airway obstruction, malnutrition, and aspiration pneumonia. With chest infection reported in up to 32% of stroke patients, this is a major clinical issue.

Helicobacter pylori is an aetiological factor for ischaemic heart disease: the case in favour.

The evidence to date concerning the association between Helicobacter pylori infection and coronary heart disease is consistent with a modest increased risk. Research is currently being undertaken into factors which may modify this association. Probably, there is sufficient evidence given the ease of the proposed intervention to make it worthwhile to undertake a trial of eradication therapy.

Cigarette smoking, endothelial injury and cardiovascular disease.

Despite the fact that the epidemiological evidence linking cigarette smoking with cardiovascular disease is overwhelming, the precise components of cigarette smoke responsible for this relationship and the mechanisms by which they exert their effect have not yet been elucidated. There are however, some promising pointers as a result of recent developments and this review concentrates on new evidence since earlier reviews of this topic. It is now known that the endothelium has a vastly more important role than was ever thought to be the case a decade ago.

Blurring boundaries: professional perspectives of the emergency nurse practitioner role in a major accident and emergency department.

The role of the emergency nurse practitioner (ENP) has increasingly become part of mainstream healthcare delivery in major accident and emergency departments in the United Kingdom. Although some research data are available in this field, there has been little attempt to evaluate the impact of the implementation of the ENP role from the perspective of those healthcare professionals most closely involved at local level. This paper describes one part of a case study evaluation of the role in an accident and emergency department in the South Thames English region.

An audit of measuring equipment in elderly care.

Accurate monitoring of weight and height is a vital element of nutritional assessment. Specialist equipment may be required for older patients. Accuracy depends upon calibration and maintenance of equipment.

Emergency nurse practitioner services in major accident and emergency departments: a United Kingdom postal survey.

Objective: To establish the current and predicted distribution of formal emergency nurse practitioner services in major accident and emergency departments in the United Kingdom; to determine organisational variations in service provision, with specific reference to funding, role configuration, training, and scope of clinical activity.

Methods: Postal survey of senior nurses of all major accident and emergency departments in the United Kingdom (n = 293) in May/June 1996.

Results: There were 274 replies (94% response rate): 98 departments (36%) provided a formal service; a further 91 departments (33%) reported definite plans to introduce a service by the end of 1996; smaller departments, under 40000 new patient attendances annually, were less likely to provide a service than busier units (p < 0.

Efficacy of cardiac rehabilitation 2: Smoking and behaviour modification.

The first part of this article (Vol 6(12): 697-702) critically reviewed the research on the acclaimed beneficial effects of a number of cardiac rehabilitation programmes including exercise, stress management and educational interventions. This article will examine empirical studies on the efficacy of smoking cessation and type A behavioural modification programmes. Lamentably, few studies have been conducted on the efficacy of smoking cessation.

The law and extended roles.

As someone working in practice development I have been involved in discussions regarding the use of the UKCC's Scope of Professional Practice and how it relates to certain aspects of midwifery practice. For example, topping up of epidurals and IV cannulation.