ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported.

Cost-effectiveness of cardiovascular magnetic resonance in the diagnosis of coronary heart disease: an economic evaluation using data from the CE-MARC study.

Objective: To evaluate the cost-effectiveness of diagnostic strategies for coronary heart disease (CHD) derived from the CE-MARC study.

Design: Cost-effectiveness analysis using a decision analytic model to compare eight strategies for the diagnosis of CHD.

Setting: Secondary care out-patients (Cardiology Department).

A systematic review of risk factors for the development and recurrence of pressure ulcers in people with spinal cord injuries.

Study Design: A systematic review was undertaken, based upon methods recommended for effectiveness questions but adapted to identify observational risk factor (RF) studies.

Objectives: The literature identifies many RFs for pressure ulcer (PU) recurrence and development; however, RFs independently predictive of PU development in adults with spinal cord injury (SCI) have not been determined. A systematic review was undertaken to identify RFs for PUs for people with SCI.

Patient-reported outcome measures for chronic wounds with particular reference to pressure ulcer research: a systematic review.

Objectives: Pressure ulcers are a major health problem, affect patient psychological, physical and social functioning, and cause significant treatment burden. For comprehensive assessment of the benefits of an intervention, patient-reported evidence of the impact of an intervention on important patient outcomes should be made. We systematically reviewed the quality of life literature on chronic wounds to determine the suitability of generic and chronic wound-specific outcome measures for use in evaluating patient outcomes in pressure ulcer research.

Orally active opioid compounds from a non-poppy source.

The basic science and clinical use of morphine and other "opioid" drugs are based almost exclusively on the extracts or analogues of compounds isolated from a single source, the opium poppy (Papaver somniferum). However, it now appears that biological diversity has evolved an alternative source. Specifically, at least two alkaloids isolated from the plant Mitragyna speciosa, mitragynine ((E)-2-[(2S,3S)-3-ethyl-8-methoxy-1,2,3,4,6,7,12,12b-octahydroindolo[3,2-h]quinolizin-2-yl]-3-methoxyprop-2-enoic acid methyl ester; 9-methoxy coryantheidine; MG) and 7-hydroxymitragynine (7-OH-MG), and several synthetic analogues of these natural products display centrally mediated (supraspinal and spinal) antinociceptive (analgesic) activity in various pain models.

Do high frequency ultrasound images support clinical skin assessment?

High frequency ultrasound imaging has been reported as a potential method of identifying the suspected tissue damage in patients "at risk" of pressure ulceration. The aim of this study was to explore whether ultrasound images supported the clinical skin assessment in an inpatient population through identification of subcutaneous tissue damage. Skin on the heels and/or sacral coccygeal area of fifty vascular surgery inpatients was assessed clinically by tissue viability nurses and with ultrasound pre operatively and at least every other day until discharge.

The role and uptake of private health insurance in different health care systems: are there lessons for developing countries?

Background: Social and national health insurance schemes are being introduced in many developing countries in moving towards universal health care. However, gaps in coverage are common and can only be met by out-of-pocket payments, general taxation, or private health insurance (PHI). This study provides an overview of PHI in different health care systems and discusses factors that affect its uptake and equity.

Protocol of a cluster randomized trial evaluation of a patient and carer-centered system of longer-term stroke care (LoTS care).

Rationale: Despite recognition of the importance of the longer-term consequences of stroke, services addressing these needs remain poorly developed. There are persuasive arguments that a community-based orientation to poststroke care, to assess, support, and coordinate relevant services, might be more helpful in minimizing longer-term stroke morbidity. To address this, an evidence-based system of care has been developed that aims to meet the longer-term needs for stroke survivors and their carers living at home in the community.

Patient risk factors for pressure ulcer development: systematic review.

Objective: To identify risk factors independently predictive of pressure ulcer development in adult patient populations?

Design: A systematic review of primary research was undertaken, based upon methods recommended for effectiveness questions but adapted to identify observational risk factor studies.

Data Sources: Fourteen electronic databases were searched, each from inception until March 2010, with hand searching of specialist journals and conference proceedings; contact with experts and a citation search. There was no language restriction.

Assessing equity in health care through the national health insurance schemes of Nigeria and Ghana: a review-based comparative analysis.

Background: Nigeria and Ghana have recently introduced a National Health Insurance Scheme (NHIS) with the aim of moving towards universal health care using more equitable financing mechanisms. This study compares health and economic indicators, describes the structure of each country's NHIS within the wider healthcare system, and analyses impacts on equity in financing and access to health care.

Methods: The World Bank and other sources were used to provide comparative health and economic data.

Concordance in diabetic foot ulcer infection.

Introduction: Accurate identification of pathogens, rather than colonising bacteria, is a prerequisite for targeted antibiotic therapy to ensure optimal patient outcome in wounds, such as diabetic foot ulcers. Wound swabs are the easiest and most commonly used sampling technique but most published guidelines recommend instead removal of a tissue sample from the wound bed, which is a more complex process. The aim of this study was to assess the concordance between culture results from wound swabs and tissue samples in patients with suspected diabetic foot infection.

The BioGRID interaction database: 2013 update.

The Biological General Repository for Interaction Datasets (BioGRID: http//thebiogrid.org) is an open access archive of genetic and protein interactions that are curated from the primary biomedical literature for all major model organism species. As of September 2012, BioGRID houses more than 500 000 manually annotated interactions from more than 30 model organisms.

Production and characterization of a novel human recombinant alpha-1-antitrypsin in PER.C6 cells.

Alpha-1-antitrypsin (A1PI) is a proteinase inhibitor of the serpin superfamily and circulates in plasma at about 1-2 g/L. A1PI deficiency in humans often results in organ damage, particularly to the lungs and liver. Current augmentation therapies rely entirely on A1PI isolated from human plasma, thus prompting an evaluation of alternate sources.

Presyrinx in a child with acquired Chiari I malformation.

Spinal cord signal abnormality resulting from alterations in cerebrospinal fluid flow at the craniocervical junction has been termed a presyrinx state. This condition has been described in the adult literature in association with a variety of conditions that cause obstruction to normal cerebrospinal fluid flow. We present a case of presyrinx in a child in the setting of acquired Chiari I malformation caused by lumboperitoneal overshunting.

Brain orexin promotes obesity resistance.

Resistance to obesity is becoming an exception rather than the norm, and understanding mechanisms that lead some to remain lean in spite of an obesigenic environment is critical if we are to find new ways to reverse this trend. Levels of energy intake and physical activity both contribute to body weight management, but it is challenging for most to adopt major long-term changes in either factor. Physical activity outside of formal exercise, also referred to as activity of daily living, and in stricter form, spontaneous physical activity (SPA), may be an attractive modifiable variable for obesity prevention.

Orexin A decreases lipid peroxidation and apoptosis in a novel hypothalamic cell model.

Current data support the idea that hypothalamic neuropeptide orexin A (OxA; hypocretin 1) mediates resistance to high fat diet-induced obesity. We previously demonstrated that OxA elevates spontaneous physical activity (SPA), that rodents with high SPA have higher endogenous orexin sensitivity, and that OxA-induced SPA contributes to obesity resistance in rodents. Recent reports show that OxA can confer neuroprotection against ischemic damage, and may decrease lipid peroxidation.

Coronary artery pseudoaneurysm following blunt trauma.

A 42-year-old male was admitted with persistent atypical chest pain following a motorcycle accident six months previously. A pseudoaneurysm, diagnosed by transthoracic echocardiography and computed tomography, was excised and the right coronary artery underwent bypass grafting.

Achieving consensus in pressure ulcer reporting.

Pressure ulcers are considered to be a key quality indicator and healthcare providers in England are required to report local pressure ulcer rates. However, there is a lack of standardisation in reporting due to lack of national guidance. The Tissue Viability Society has sought to develop consensus amongst all concerned parties on the most useful and robust methods of data collection.

Injury survey of a non-traditional 'soft-edged' trampoline designed to lower equipment hazards.

In Australia trampolines contribute one quarter of all childhood play equipment injuries. The objective of this study was to gather and evaluate injury data from a non-traditional, 'soft-edged', consumer trampoline, where the design aimed to minimise injuries from the equipment and from falling off. The manufacturer of the non-traditional trampoline provided the University of Technology Sydney with their Australian customer database.

Survey of injury sources for a trampoline with equipment hazards designed out.

Aim: In Australia, trampolines contribute approximately one-quarter of all childhood play-equipment injuries. The purpose of this study was to gather and evaluate injury data from a nontraditional, 'soft-edged', consumer trampoline in which the equipment injury sources have been designed out.

Methods: A survey was undertaken in Queensland and New South Wales.

Neuropeptides controlling energy balance: orexins and neuromedins.

In this chapter, we review the feeding and energy expenditure effects of orexin (also known as hypocretin) and neuromedin. Orexins are multifunctional neuropeptides that affect energy balance by participating in regulation of appetite, arousal, and spontaneous physical activity. Central orexin signaling for all functions originates in the lateral hypothalamus-perifornical area and is likely functionally differentiated based on site of action and on interacting neural influences.

Cardiovascular magnetic resonance and single-photon emission computed tomography for diagnosis of coronary heart disease (CE-MARC): a prospective trial.

Background: In patients with suspected coronary heart disease, single-photon emission computed tomography (SPECT) is the most widely used test for the assessment of myocardial ischaemia, but its diagnostic accuracy is reported to be variable and it exposes patients to ionising radiation. The aim of this study was to establish the diagnostic accuracy of a multiparametric cardiovascular magnetic resonance (CMR) protocol with x-ray coronary angiography as the reference standard, and to compare CMR with SPECT, in patients with suspected coronary heart disease.

Methods: In this prospective trial patients with suspected angina pectoris and at least one cardiovascular risk factor were scheduled for CMR, SPECT, and invasive x-ray coronary angiography.

What influences the impact of pressure ulcers on health-related quality of life? A qualitative patient-focused exploration of contributory factors.

With the recognition of health-related quality of life (HRQL) as an important and relevant outcome in pressure ulceration, it is important to gain better understanding of the complex relationship among the various factors that affect it. A problem with existing literature in this area is that the impact of having a pressure ulcer on HRQL is combined conceptually with contributory factors which may influence outcome. This study identified contributory factors affecting pressure ulcer-related HRQL and explored interrelationships between factors based on views of adults with pressure ulcers.