An innovative strategy for personalised medicine in a CFSPID case that evolved with time.

We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.

Pre-operative respiratory assessment for children with spinal deformity.

Pre-operative respiratory assessment of children with spinal deformity requires an understanding of the deformity, the proposed surgery and most importantly the children themselves. The assessment and the tailoring of investigations will differ according to the age, developmental level and co-morbidities of the child. This review uses a mixture of evidence and case-based practice in order to set out a suggested framework for pre-operative spinal assessment, and suggested recommendations that may be provided to best support children undergoing surgery for spinal deformity.

Reduction of residual topical diclofenac in waste water by a wiping procedure before hand washing.

Diclofenac is non-steroidal anti-inflammatory drug (NSAID) with widespread usage as a topical treatment for relief of pain and inflammation in soft-tissue injuries. While the permeation mechanisms of topically applied diclofenac are well documented, the fate of residual diclofenac not retained at the site of pain following subsequent hand-washing is still not well characterized. The aim of this study quantifies the amount of diclofenac present in rinse water after the application of a topical pain gel containing 23.2 mg/g diclofenac diethylamine, and subsequent washing of the hands. A comparison of two different hand washing techniques was completed with and without wiping hands directly after product application and before washing. A pilot study was completed to optimize the analytical procedures used in the quantification of diclofenac in the rinse water, followed by a main study with 24 test subjects. The data were first analyzed separately and subsequently pooled for statistical analysis. To determine the amount of diclofenac in the rinse water samples, we used reverse phase-liquid chromatography-mass spectrometry (RP-LC-MS/MS). It was determined that a hand washing procedure with a pre-wash wipe of the hands with a paper towel resulted in a 66% reduction in diclofenac released into the waste water system (7.43 ± 3.02 mg/L). This study shows for the first time that a wiping procedure before hand washing will have a significant impact on the amount of diclofenac in the rinse water. Thus, it is possible to significantly impact the release of non-absorbed residual diclofenac after product application.

Exercise testing in cystic fibrosis: Who and why?

Annual review exercise testing is recommended by the Cystic Fibrosis (CF) Trust. Testing to date has focused on evaluating aerobic fitness, a key prognostic indicator. Tests available range from simple field tests, to comprehensive evaluations of aerobic exercise (dys)function - cardiopulmonary exercise testing (CPET). 'Field tests', although easy to perform are limited in the information they provide,whereas CPET, the 'gold standard' measure of aerobic fitness, is recommended as the first-choice exercise test by the European CF Society Exercise Working Group. CPET offers a precise cardiovascular, respiratory and metabolic evaluation of exercise capacity, including assessment of mechanism(s) of exercise limitation.

Clinical interpretation of cardiopulmonary exercise testing in cystic fibrosis and implications for exercise counselling.

The measurement of exercise capacity in persons with cystic fibrosis by Cardiopulmonary Exercise Testing (CPET) offers a functional assessment of lung performance and efficiency in a dynamic setting. Exercise performance can measured against predicted values and the mechanism by which exercise limitation occurs can be identified. In healthy subjects, exercise is limited by cardiac output, such that a significant breathing reserve exists at the end of exercise. However, other mechanisms of exercise limitation which may be identified in CF subjects include ventilatory limitation, and/or limitation due to physical deconditioning. A detailed understanding of exercise capacity and the mechanism for exercise limitation may enable health professionals to tailor an individualised exercise programme for each CF patient.

Respiratory Complications in Children with Prader Willi Syndrome.

Prader Willi syndrome, resulting from the partial deletion or lack of expression of a region of genes on the paternal chromosome 15, has a number of phenotypic features which predispose affected patients to ventilatory problems. These include generalised hypotonia, abnormal arousal and ventilatory responses to hypoxia and hypercapnia, scoliosis and frequently, obesity. The spectrum of the resulting respiratory complications thus runs from sleep disordered breathing, to aspiration and respiratory functional impairment. While the use of growth hormone, in conjunction with multidisciplinary clinical management, is currently the cornerstone of clinical care of these patients, concerns have been raised following reports of sudden death shortly after growth hormone initiation. This review summarizes the respiratory complications commonly seen and draws together the published literature on the impact of growth hormone in relation to various respiratory parameters, aiming to provide the reader with the necessary information to manage these patients as safely as possible.

Weight satisfaction, management strategies and health beliefs in knee osteoarthritis patients attending an outpatient clinic.

BACKGROUND: Although weight control is important in managing knee osteoarthritis (OA), it is difficult to achieve. Understanding beliefs regarding weight management in people with knee OA may improve weight control. AIMS: To examine differences in bodyweight satisfaction, weight management strategies and weight-related health-beliefs in obese, overweight and normal weight people with knee OA. METHODS: The beliefs and attitudes to weight in 102 people with symptomatic knee OA were ascertained. Participants were classified as being obese, overweight or of normal weight. RESULTS: Although obese and overweight participants were less satisfied with their bodyweight, they were more likely to want to lose weight and to report dieting compared with normal weight participants(P < 0.001 for all) and also more likely to report weight gain in the past 6 months (P < 0.001). While most participants rated food intake to be a main determinant of health, this belief was more common in normal weight participants (P = 0.04). When asked about their own weight gain, obese participants more frequently believed genetic and metabolic factors to be important than normal and overweight participants (P = 0.01). While 51 (53%) believed that increasing activity was more important than dietary change to avoid weight gain, this was more commonly believed by obese and overweight participants (P < 0.05). CONCLUSIONS: Despite desiring and attempting to lose weight, obese people with symptomatic knee OA more commonly reported weight gain. Overweight and obese participants attributed weight gain to non-modifiable factors but believed physical activity is more important than dietary change in weight management. Thus, education regarding the importance of diet as compared with non-modifiable factors and physical activity may improve weight management in obese people with knee OA.

Six-year follow-up study on the effect of combined anterior and posterior spinal fusion on lung function and quality of life in young people with adolescent idiopathic scoliosis.

OBJECTIVES: The effects of spinal surgery on lung function and quality of life (QoL) are important patient outcomes. Long-term follow-up of lung function and QoL in those undergoing combined anterior and posterior spinal fusion (A/PSF) for adolescent idiopathic scoliosis (AIS) is poorly documented with only one study extending beyond 2 years, though available evidence points to a decrement in lung function. Our study evaluated long-term change in lung function and QoL following A/PSF for AIS. DESIGN: Prospective cohort study. PATIENTS: Patients with AIS. SETTING: Tertiary paediatric respiratory centre and national spinal service. DESIGN: Spirometry was performed along with QoL (Scoliosis Research Society-22 (SRS-22) questionnaire). Paired t test and one-way analysis of variance were used to compare pre-A/PSF and post-A/PSF data. RESULTS: Data were available for 12 patients (9 female) who underwent A/PSF at mean 13.8 (range 11.8-15) years. Mean follow-up was undertaken 5.8 (range 4.1-6.8) years postoperatively. Height increased from mean (SD) 169 (9) cm preoperatively to 175 (5) cm at follow-up (p<0.01). Scoliosis corrected from 100 (15)° to 29 (11)° (p<0.001). Mean (SD) forced expiratory volume in 1 s was -3.4 (1.4) z scores preoperatively versus -3.3 (1) z scores postoperatively (p=0.85); and forced vital capacity was -3.4 (1.7) ) z scores pre-A/PSF and -3.4 (1.1) z scores post-A/PSF (p=0.83). SRS-22 scores improved mean (SD) of 3.6 (0.3) preoperatively to 4.2 (0.3) at 2 years postoperatively, and 4.4 (0.4) at 6 year follow-up (p<0.001, analysis of variance). High patient satisfaction rates (4.8 (0.3)) were recorded. No correlation was noted between changes in forced expiratory volume in 1 s (r=-0.15, p=0.63) or forced vital capacity (r=-0.12, p=0.71) and change in long-term SRS-22 score. CONCLUSIONS: Long-term follow-up of patients with AIS suggests no deficit in pulmonary function, while QoL shows incremental improvement and patient satisfaction is high over 6 years after A/PSF.

Is there a relationship between occupational activities and low back pain in obese, middle-aged women?

BACKGROUND: Although low back pain and obesity are major health issues for women, our understanding of the relationship between these conditions is limited. This study aimed to investigate the relationship between occupational activities and low back pain and disability in obese and non-obese, middle-aged females. METHODS: Eighty-nine obese and 56 non-obese participants were recruited for a community-based study of musculoskeletal health. Low back pain intensity and disability were examined using the Chronic Pain Grade Questionnaire and participants were asked about their involvement in occupational activities. RESULTS: More manual activity and heavy lifting, bending or squatting were found to be associated with low back pain intensity in obese females (odds ratio (OR) 1.83, 95% confidence interval (CI) 1.14-2.94; OR 3.02, 95% CI 1.24-7.37, respectively), but not in non-obese females (OR 0.83, 95% CI 0.42-1.63; OR 0.81, 95% CI 0.25-2.6, respectively), after adjusting for age and recreational activity. Similarly, there were also relationships between performance of more manual activity and heavy lifting, bending or squatting and low back disability in the obese (OR 1.68, 95% CI 1.07-2.63; OR 2.79, 95% CI 1.21-6.46, respectively), but not in the non-obese (OR 0.88, 95% CI 0.36-2.13; OR 1.78, 95% CI 0.39-8.22, respectively). CONCLUSIONS: Obese females who perform predominately manual activity or heavy lifting, bending or squatting at work have high levels of low back pain and disability, independent of their recreational activity. This was not the case for non-obese, female workers. Although longitudinal investigation is needed, these findings highlight the role of obesity in low back pain and disability for middle-aged females in occupational settings.

Does obesity affect knee cartilage? A systematic review of magnetic resonance imaging data.

There is increasing evidence for the effect of obesity on knee osteoarthritis (OA), although the association between obesity, particularly body composition, and knee osteoarthritis, using magnetic resonance imaging (MRI) to examine knee structure, has not been examined. We systematically evaluated the evidence for the relationship between obesity and knee cartilage assessed by MRI. We performed an electronic search of MEDLINE and EMBASE up to December 2012. Included studies investigated the association between obesity and the development and/or progression of knee cartilage changes using MRI. The studies were ranked according to their methodological score and best-evidence synthesis was performed to summarize the results Twenty-two studies were identified for inclusion, of which 7 were cross-sectional, 13 were longitudinal and 2 had both cross-sectional and longitudinal components. Seven cross-sectional and eight longitudinal studies were of high quality. Best-evidence synthesis showed consistent, yet limited evidence for a detrimental effect of body mass index (BMI) and fat mass on knee cartilage. This review identified a consistent detrimental effect of obesity, particularly related to elevated BMI and fat mass on cartilage defects. The strength of evidence was limited by the paucity of high-quality cohort studies examining this question. By further examining the mechanisms for these different effects, new strategies can be developed to prevent and treat knee OA.

The association between body composition and foot structure and function: a systematic review.

The aim of this systematic review was to investigate the relationship between body composition and foot structure and function. Six electronic databases (Ovid MEDLINE, Ovid EMBASE, Ovid AMED, CINAHL, Scopus and The Cochrane Library) and reference lists from relevant papers were searched on 2 September 2013. Sixteen papers that reported on the association between body composition and foot structure and function met our inclusion criteria and were reviewed. The evidence indicates that obesity is strongly associated with planus (low-arched) foot posture, pronated dynamic foot function and increased plantar pressures when walking. However, there is limited evidence to support an association between other body composition measures, such as fat mass, with foot structure or function.

Central sleep-disordered breathing and the effects of oxygen therapy in infants with Prader-Willi syndrome.

OBJECTIVES: To describe breathing patterns in infants with Prader-Willi Syndrome (PWS), as well as the effects of supplemental oxygen (O2) on breathing patterns. Children with PWS commonly have sleep-disordered breathing, including hypersomnolence and obstructive sleep apnoea, as well as central sleep breathing abnormalities that are present from infancy. DESIGN: Retrospective cohort study. PATIENTS: Infants with a diagnosis of PWS. SETTING: Tertiary children's hospital. INTERVENTIONS: Infants with PWS underwent full polysomnography, and in those with frequent desaturations associated with central events, supplemental O2 during sleep was started and followed with regular split-night studies (periods in both air and O2). RESULTS: Thirty split-night studies on 10 infants (8 female) aged 0.06-1.79 (median 0.68, IQR 0.45, 1.07) years were undertaken. At baseline (ie, air), children with PWS had a median (IQR) central apnoea index (CAI) of 4.7 (1.9, 10.6) per hour, with accompanying falls in oxygen saturation (SpO2). O2 therapy led to statistically significant reductions in CAI to 2.5/hour (p=0.002), as well as a reduced central event index (CEI) and improved SpO2. No change in the number of obstructive events was noted. Central events were more prevalent in rapid-eye movement/active sleep. CONCLUSIONS: It is concluded that infants with PWS may have central sleep-disordered breathing, which, in some children, may cause frequent desaturations. Improvements in CAI and CEI as well as oxygenation were noted with O2 therapy. Longitudinal work with this patient group would help to establish the timing of onset of obstructive symptoms.

Fat mass is a predictor of incident foot pain.

OBJECTIVE: Foot pain is a common complaint in adults. Increased BMI and fat mass have been linked only to foot pain prevalence. Therefore, a longitudinal study to examine the relationship between body composition and incident foot pain over 3 years was conducted. DESIGN AND METHODS: Sixty-one community dwelling participants from a previous study of musculoskeletal health, who did not have foot pain at study inception in 2008, were invited to take part in this follow-up study in 2011. Current foot pain was determined using the Manchester Foot Pain and Disability Index, and body composition was measured using dual X-ray absorptiometry at study baseline. RESULTS: Of the 51 respondents (84% response rate, 37 females and 14 males), there were 11 who developed foot pain. BMI ranged from underweight to morbidly obese (17-44 kg/m2), mean 27.0 ± 6.0 kg/m2. Incident foot pain was positively associated with both fat mass (odds ratio [OR] 1.11, 95% confidence interval [CI] 1.03-1.20) and fat-mass index (OR 1.28, 95% CI 1.04-1.57) in multivariate analysis. CONCLUSIONS: Fat mass is a predictor of incident foot pain. This study supports the notion that incident foot pain in overweight individuals is associated with fat mass rather than body mass alone.

Association between socioeconomic status and bone mineral density in adults: a systematic review.

UNLABELLED: For most causes of mortality and morbidity, a socioeconomic gradient exists; however, this systematic review identified limited evidence for the role of education on bone mineral density (BMD). Further research is required to build upon the current paucity of data examining influences of socioeconomic status (SES) on BMD, especially in men. INTRODUCTION: For most causes of mortality and morbidity, a socioeconomic gradient exists, although little is understood of the relationship between BMD and SES. We systematically evaluated evidence of SES as a risk factor for low BMD at the clinically relevant sites of hip and spine in adults. METHODS: We conducted a computer-aided search of Medline, EMBASE, CINAHL, and PsychINFO from January 1, 1966 until December 31, 2008. Reviewed studies investigated the relationship between SES parameters of income, education, and occupation, and the level of BMD. Studies were rated based on their methodological quality, and a best-evidence synthesis was used to summarise the results. RESULTS: One case-control and seven cross-sectional studies were identified for inclusion, of which four cross-sectional studies were high-quality. Best-evidence analysis identified consistent, yet limited, evidence for a positive association between educational attainment and BMD in women. No evidence was available regarding an association between income or occupation and BMD in either gender, or education and BMD in men. CONCLUSIONS: Limited good quality evidence exists for the role that education level may play in BMD levels. Cohort studies are required to examine the relationship between individual SES parameters and BMD in order to identify potential intervention targets.