Development of Rapid Pharmacogenomic Testing Assay in a Mobile Molecular Biology Laboratory (2MoBiL).

Pharmacogenomics is rapidly assuming an integral part in modern health care. Still, its broad applicability relies on the feasibility of performing pharmacogenomic testing in all clinical settings, including in remote areas or resource-limited settings with budget restrictions. In this study, we describe the development and feasibility of rapid and reliable pharmacogenomics assays using a portable molecular biology laboratory, namely the 2MoBiL (Mobile Molecular Biology Laboratory). More precisely, we demonstrate that the genotyping of rs4149056, located within SLCO1B1, can be efficiently and reliably performed using the 2MoBiL portable laboratory and conventional benchtop laboratory equipment and a gold standard genotyping method (KASP assay) as directly comparable methodologies. Taking into account the compact size of 2MoBiL, which directly and positively impacts on its portability, and the high accuracy achieved, we conclude that the 2MoBiL-based genotyping method is warranted for further studies in clinical practices at remote areas and resource-limited as well as time-constrained planetary health settings. To contextualize the broader and potential future applications of 2MoBiL, we emphasize that genotyping of a limited set of clinically relevant single-nucleotide polymorphisms is often a common endpoint of genomics and pharmacogenomics discovery and translational research pipeline. Hence, rapid genotyping by 2MoBiL can be an essential catalyst for global implementation of pharmacogenomics and personalized medicine in the clinic. The Clinical Trial Registration number is NCT03093818.

Visible spectroscopy as a tool for the assessment of storage conditions of fresh pork packaged in modified atmosphere.

The storage conditions of fresh meat are known to impact its colour and microbial shelf life. In the present study, visible spectroscopy was evaluated as a method to assess meat storage conditions and its optimisation. Fresh pork steaks (longissimus thoracis et lumborum and semimembranosus) were placed in modified atmosphere packaging using gas mixtures containing 0, 40, 50, and 80% oxygen, and stored with or without light for up to 9days. Principal component analysis of visible reflectance spectra (400-700nm) showed that the colour of the different meat cuts was affected by presence of oxygen, illumination, and storage time. Differences in the oxygen levels did not contribute to the observed variance. Predictive models based on partial least squares regression-discriminant analysis exhibited high potency in the classification of the storage parameters of meat cuts packaged in modified atmosphere. The study demonstrates the applicability of visible spectroscopy as a tool to assess the storage conditions of meat cuts packaged in modified atmosphere.

Effect of oxygen level on the oxidative stability of two different retail pork products stored using modified atmosphere packaging (MAP).

The characteristics and the oxidative stability of pork steaks and of pork mince were investigated during 2, 5 and 7days of refrigerated storage using oxygen (O2) levels of 0%, 20%, 50% and 80% in modified atmosphere packaging (MAP). Steaks stored during 7days were not affected by an increase in O2 concentration, as revealed by lipid and protein oxidation markers. In contrast, the mince was characterised by an altered protein profile, loss of free thiol groups and increased protein oxidation, early during storage. The oxidative stability of pork mince was improved by using intermediate (50%) O2 MAP. The results show that fresh pork products are affected differently by the MAP O2 concentration and strongly indicate that optimisation of MAP based on the retail product type would be of considerable benefit to their oxidative stability.

The Effectiveness of a Weight Maintenance Intervention for Adults with Intellectual Disabilities and Obesity: A Single Stranded Study.

BACKGROUND: The evidence base for weight management programmes incorporating a weight loss and a weight maintenance phase for adults with intellectual disabilities (ID) is limited. This study describes the weight maintenance phase of a multicomponent weight management programme for adults with intellectual disability and obesity (TAKE 5). MATERIALS AND METHODS: Thirty-one participants who had completed the 16 week TAKE five weight loss intervention (Phase I) were invited to participate in a 12 month weight maintenance intervention (Phase II). Content included recommendations of the National Weight Control Registry. RESULTS: Twenty-eight participants completed Phase II with 50.4% maintaining their weight (mean weight change -0.5 kg, SD 2.2), 28.7% gaining weight (mean weight gain 5.4 kg, SD 2.2) and 21.6% losing weight (mean weight loss -8.0 kg, SD 3.0) at 12 months. CONCLUSION: Further research is justified to investigate the efficacy of weight loss maintenance interventions in adults with intellectual disability and obesity, using controlled study designs.

Weight management interventions in adults with intellectual disabilities and obesity: a systematic review of the evidence.

To evaluate the clinical effectiveness of weight management interventions in adults with intellectual disabilities (ID) and obesity using recommendations from current clinical guidelines for the first line management of obesity in adults. Full papers on lifestyle modification interventions published between 1982 to 2011 were sought by searching the Medline, Embase, PsycINFO and CINAHL databases. Studies were evaluated based on (1) intervention components, (2) methodology, (3) attrition rate (4) reported weight loss and (5) duration of follow up. Twenty two studies met the inclusion criteria. The interventions were classified according to inclusion of the following components: behaviour change alone, behaviour change plus physical activity, dietary advice or physical activity alone, dietary plus physical activity advice and multi-component (all three components). The majority of the studies had the same methodological limitations: no sample size justification, small heterogeneous samples, no information on randomisation methodologies. Eight studies were classified as multi-component interventions, of which one study used a 600 kilocalorie (2510 kilojoule) daily energy deficit diet. Study durations were mostly below the duration recommended in clinical guidelines and varied widely. No study included an exercise program promoting 225-300 minutes or more of moderate intensity physical activity per week but the majority of the studies used the same behaviour change techniques. Three studies reported clinically significant weight loss (≥ 5%) at six months post intervention. Current data indicate weight management interventions in those with ID differ from recommended practice and further studies to examine the effectiveness of multi-component weight management interventions for adults with ID and obesity are justified.

Piloting a manualised weight management programme (Shape Up-LD) for overweight and obese persons with mild-moderate learning disabilities: study protocol for a pilot randomised controlled trial.

BACKGROUND: National obesity rates have dramatically risen over the last decade. Being obese significantly reduces life expectancy, increases the risk of a range of diseases, and compromises quality of life. Costs to both the National Health Service and society are high. An increased prevalence of obesity in people with learning disabilities has been demonstrated. The consequences of obesity are particularly relevant to people with learning disabilities who are already confronted by health and social inequalities. In order to provide healthcare for all, and ensure equality of treatment for people with learning disabilities, services must be developed specifically with this population in mind. The aim of this project is to pilot the evaluation of a manualised weight management programme for overweight and obese persons with mild-moderate learning disabilities (Shape Up-LD). METHODS/DESIGN: An individually randomised, controlled pilot trial in 60 overweight and obese (body mass index ≥ 25) adults (age ≥ 18) with mild-moderate learning disabilities and their carers will be carried out, comparing "Shape Up-LD" with usual care. The manualised Shape Up-LD intervention will involve 12 weekly sessions, which include healthy eating messages, advice on physical activity and use of behaviour change techniques to help people manage their weight. Assessments of participants will be conducted at baseline, 12 weeks and 6 months. Service users and their carers and service providers will also give their perspectives on the experience of Shape Up-LD in qualitative interviews at 12 weeks. Feasibility outcomes will include recruitment rates, loss to follow-up, compliance rates, completion rates, collection of information for a cost-effectiveness analysis and an estimation of the treatment effect on weight. DISCUSSION: The findings from this study will inform our preparation for a definitive randomised controlled trial to test the efficacy of the programme with respect to weight loss and maintenance in this population. Weight loss through Shape Up-LD could lead to improvements in health and quality of life. Costs to the National Health Service might be reduced through decreased overall service use because of improved health. The programme would also ensure a more equitable service for overweight service users with learning disabilities and fill the current gap in weight management services for this population. TRIAL REGISTRATION: International Standard Randomised Controlled Trial No ISRCTN39605930.

Respiratory function in patients with pemphigus vulgaris - a small clinical study.

BACKGROUND: Pemphigus vulgaris belongs to a group of rare, autoimmune, blistering disorders, requiring intensive immunosuppressive therapy. Lung infections are common in patients with pemphigus vulgaris. OBJECTIVE: To evaluate pulmonary function in patients with pemphigus vulgaris, in order to detect possible factors that might predispose PV patients to lung damage. METHODS: Ten patients first diagnosed with severe pemphigus vulgaris and 10 healthy individuals,were included in the study. Pulmonary function testing, blood gas analysis and quantification of α1-antitrypsin serum levels were performed. RESULTS: Mild reduction of CO diffusing capacity was recorded, compared to the mean predicted normal value. DLCOSB (single-breath carbon monoxide diffusing capacity test) values did not significantly differ between patients with pemphigus vulgaris and healthy controls, while differences regarding DLCO/VA (VA: Alveolar Volume) were statistically significant. Alpha 1-antitrypsin serum levels were decreased (<2.0g/L) in 60% (6/10) of patients with pemphigus vulgaris and were found normal in none of the healthy controls. CONCLUSION: A mild reduction of pulmonary diffusing capacity was observed in patients with pemphigus vulgaris.

Agreement of accelerometer and a physical activity questionnaire in adults with intellectual disabilities.

PURPOSE: To assess the level of agreement between accelerometer and proxy-respondent questionnaire measurement of the physical activity levels of adults with intellectual disabilities. METHODS: In Glasgow, U.K., from May to September 2009, the main carer of participants with intellectual disabilities was asked to complete the International Physical Activity Questionnaire-Short Version, detailing the participants' regular physical activity levels. Participants were also invited to wear an ActiGraph GT1M accelerometer for seven consecutive days, during all waking hours. The level of agreement from the two measurements was compared using the Bland-Altman method. RESULTS: There is limited agreement between physical activity and sedentary behavior measured with accelerometer and proxy-respondent questionnaire. The 95% limits of agreement for both moderate activity and sedentary activity were -44.48 to 34.20 min per day and -8.41 to 6.79 h per day, respectively. As physical activity increased above 10 min per day, the agreement between the accelerometer and International Physical Activity Questionnaire-Short Version data decreased further. CONCLUSION: It remains uncertain whether questionnaire methods have sufficient reliability for use in surveillance of physical activity levels of adults with intellectual disabilities.

An open study of the effectiveness of a multi-component weight-loss intervention for adults with intellectual disabilities and obesity.

Adults with intellectual disabilities experience high rates of obesity. Despite this higher risk, there is little evidence on the effectiveness of weight-loss interventions for adults with intellectual disabilities and obesity. The present study examined the effectiveness of the TAKE 5 multi-component weight-loss intervention. Adults with obesity were invited using specialist intellectual disability services to participate in the study. Obesity was defined as a BMI of 30 kg/m2 or greater. TAKE 5 included a daily energy-deficit diet of 2510 kJ (600 kcal), achieved via a personalised dietary prescription. Participants' body weight, BMI, waist circumference and levels of physical activity and sedentary behaviour were measured before and after the intervention. A total of fifty-four individuals consented to participate, of which forty-seven (87 %) completed the intervention in the study period. There was a significant decrease in body weight (mean difference - 4·47 (95 % CI - 5·91, - 3·03) kg; P < 0·0001), BMI (- 1·82 (95 % CI - 2·36, - 1·29) kg/m(2); P < 0·0001), waist circumference (- 6·29 (95 % CI - 7·85, - 4·73) cm; P < 0·0001) and daily sedentary behaviour of participants (- 41·40 (95 % CI - 62·45, - 20·35) min; P = 0·00 034). Of the participants who completed the intervention, seventeen (36·2 %) lost 5 % or more of their initial body weight. Findings from the study suggest that TAKE 5 is an effective weight-loss intervention for adults with intellectual disabilities and obesity. The effectiveness of TAKE 5 should be examined further in a controlled study.