Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia

Chronic progressive external ophthalmoplegia (CPEO) is a relatively common mitochondrial disorder. Weakness of the extra-ocular, limb girdle and laryngeal muscles are established clinical features. Respiratory muscle involvement however has never been studied systematically, even though respiratory complications are one of the main causes of death. We therefore determined the prevalence and nature of respiratory muscle involvement in 23 patients with genetically confirmed CPEO. The main finding was decreased respiratory muscle strength, both expiratory (76.8% of predicted, p = 0.002) and inspiratory (79.5% of predicted, p = 0.004). Although the inspiratory vital capacity (92.5% of predicted, p = 0.021) and the forced expiratory volume in 1 s (89.3% of predicted, p = 0.002) were below predicted values, both were still within the normal range in the majority of patients. Expiratory weakness was associated with a decreased vital capacity (ρ = 0.502, p = 0.015) and decreased peak expiratory flow (ρ = 0.422, p = 0.045). Moreover, expiratory muscle strength was lower in patients with limb girdle weakness (62.6 ± 26.1% of predicted vs. 98.9 ± 22.5% in patients with normal limb girdle strength, p = 0.003), but was not associated with other clinical features, subjective respiratory complaints, disease severity or disease duration. Since respiratory involvement in CPEO is associated with severe morbidity and mortality, the present data justify periodic assessment of respiratory functions in all CPEO patients

Maximal respiratory static pressures in patients with different stages of COPD severity

<p>Abstract</p> <p>Background</p> <p>In this study, we analyzed maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) values in a stable COPD population compared with normal subjects. We evaluated the possible correlation between functional maximal respiratory static pressures and functional and anthropometric parameters at different stages of COPD. Furthermore, we considered the possible correlation between airway obstruction and MIP and MEP values.</p> <p>Subject and methods</p> <p>110 patients with stable COPD and 21 age-matched healthy subjects were enrolled in this study. Patients were subdivided according to GOLD guidelines: 31 mild, 39 moderate and 28 severe.</p> <p>Results</p> <p>Both MIP and MEP were lower in patients with severe airway impairment than in normal subjects. Moreover, we found a correlation between respiratory muscle function and some functional and anthropometric parameters: FEV₁(forced expiratory volume in one second), FVC (forced vital capacity), PEF (peak expiratory flow), TLC (total lung capacity) and height. MIP and MEP values were lower in patients with severe impairment than in patients with a slight reduction of FEV₁.</p> <p>Conclusion</p> <p>The measurement of MIP and MEP indicates the state of respiratory muscles, thus providing clinicians with a further and helpful tool in monitoring the evolution of COPD.</p

Epidemiology, radiology, and genetics of nicotine dependence in COPD

<p>Abstract</p> <p>Background</p> <p>Cigarette smoking is the principal environmental risk factor for developing COPD, and nicotine dependence strongly influences smoking behavior. This study was performed to elucidate the relationship between nicotine dependence, genetic susceptibility to nicotine dependence, and volumetric CT findings in smokers.</p> <p>Methods</p> <p>Current smokers with COPD (GOLD stage ≥ 2) or normal spirometry were analyzed from the COPDGene Study, a prospective observational study. Nicotine dependence was determined by the Fagerstrom test for nicotine dependence (FTND). Volumetric CT acquisitions measuring the percent of emphysema on inspiratory CT (% of lung <-950 HU) and gas trapping on expiratory CT (% of lung <-856 HU) were obtained. Genotypes for two SNPs in the CHRNA3/5 region (rs8034191, rs1051730) previously associated with nicotine dependence and COPD were analyzed for association to COPD and nicotine dependence phenotypes.</p> <p>Results</p> <p>Among 842 currently smoking subjects (335 COPD cases and 507 controls), 329 subjects (39.1%) showed high nicotine dependence. Subjects with high nicotine dependence had greater cumulative and current amounts of smoking. However, emphysema severity was negatively correlated with the FTND score in controls (ρ = -0.19, p < .0001) as well as in COPD cases (ρ = -0.18, p = 0.0008). Lower FTND score, male gender, lower body mass index, and lower FEV1 were independent risk factors for emphysema severity in COPD cases. Both CHRNA3/5 SNPs were associated with FTND in current smokers. An association of genetic variants in CHRNA3/5 with severity of emphysema was only found in former smokers, but not in current smokers.</p> <p>Conclusions</p> <p>Nicotine dependence was a negative predictor for emphysema on CT in COPD and control smokers. Increased inflammation in more highly addicted current smokers could influence the CT lung density distribution, which may influence genetic association studies of emphysema phenotypes.</p> <p>Trial registration</p> <p>ClinicalTrials (NCT): <a href="http://www.clinicaltrials.gov/ct2/show/NCT00608764">NCT00608764</a></p

Overweight Is an Independent Risk Factor for Reduced Lung Volumes in Myotonic Dystrophy Type 1

Contains fulltext : 168011.PDF (publisher's version ) (Open Access)BACKGROUND: In this large observational study population of 105 myotonic dystrophy type 1 (DM1) patients, we investigate whether bodyweight is a contributor of total lung capacity (TLC) independent of the impaired inspiratory muscle strength. METHODS: Body composition was assessed using the combination of body mass index (BMI) and fat-free mass index. Pulmonary function tests and respiratory muscle strength measurements were performed on the same day. Patients were stratified into normal (BMI /= 25 kg/m2) groups. Multiple linear regression was used to find significant contributors for TLC. RESULTS: Overweight was present in 59% of patients, and body composition was abnormal in almost all patients. In overweight patients, TLC was significantly (p = 2.40x10-3) decreased, compared with normal-weight patients, while inspiratory muscle strength was similar in both groups. The decrease in TLC in overweight patients was mainly due to a decrease in expiratory reserve volume (ERV) further illustrated by a highly significant (p = 1.33x10-10) correlation between BMI and ERV. Multiple linear regression showed that TLC can be predicted using only BMI and the forced inspiratory volume in 1 second, as these were the only significant contributors. CONCLUSIONS: This study shows that, in DM1 patients, overweight further reduces lung volumes, as does impaired inspiratory muscle strength. Additionally, body composition is abnormal in almost all DM1 patients

The COPDnet integrated care model

Eleonore H Koolen,1 Philip J van der Wees,2 Gert P Westert,2 Richard Dekhuijzen,1 Yvonne F Heijdra,1 Alex J van &rsquo;t Hul1 1Department of Pulmonary Diseases, Radboud University Medical Center, Nijmegen, the Netherlands; 2Radboud Institute for Health Sciences, IQ Healthcare, Radboud University Medical Center, Nijmegen, the Netherlands Introduction: This research project sets out to design an integrated disease management model for patients with COPD who were referred to a secondary care setting and who qualified for pharmacological and nonpharmacological intervention options. Theory and methods: The integrated disease management model was designed according to the guidelines of the European Pathway Association and the content founded on the Chronic Care Model, principles of integrated disease management, and knowledge of quality management systems. Results: An integrated disease management model was created, and comprises 1) a diagnostic trajectory in a secondary care setting, 2) a nonmedical intervention program in a primary care setting, and 3) a pulmonary rehabilitation service in a tertiary care setting. The model also includes a quality management system and regional agreements about exacerbation management and palliative care. Discussion: In the next phase of the project, the COPDnet model will be implemented in at least two different regions, in order to assess the added value of the entire model and its components, in terms of feasibility, health status benefits, and costs of care. Conclusion: Based on scientific theories and models, a new integrated disease management model was developed for COPD patients, named COPDnet. Once the model is stable, it will be evaluated for its feasibility, health status benefits, and costs. Keywords: COPD, COPD management, integrated care, Chronic Care Model, health statu

Evaluation of the COPDnet integrated care model in patients with COPD: the study protocol

Eleonore H Koolen,1 Philip J van der Wees,2 Gert P Westert,2 Richard Dekhuijzen,1 Yvonne F Heijdra,1 Alex J van &rsquo;t Hul1 1Department of Pulmonary Diseases, Radboud University Medical Center, Nijmegen, the Netherlands; 2Radboud Institute for Health Sciences, IQ Healthcare, Radboud University Medical Center, Nijmegen, the Netherlands Background: Projections on the future suggest a further rise in the prevalence of patients with COPD, and in COPD related morbidity, mortality, and health care costs worldwide. Given the substantial impact on the individual and on society, it is important to establish a care process that maximizes outcomes in relation to the costs and efforts made. In an attempt to bridge this gap, we set out to develop an evidence-based model of integrated care for patients with COPD, named the COPDnet integrated care model. Purpose: The current study protocol sets out to 1) evaluate the feasibility of employing the COPDnet model in present real-life care within the context of the Dutch health care system, 2) explore the potential health status benefits, and 3) analyze the costs of care of this model. Patients and methods: In this prospective study, feasibility and health status changes will be evaluated with an experimental before and after study design. The costs of the diagnostic trajectory will be calculated according to a standard economic health care evaluation approach. Furthermore, the feasibility and cost of care studies will comprise both quantitative and qualitative data collection. For the studies on the feasibility and change in health status, all new patients qualifying for shared care by primary and secondary care professionals according to the Dutch Standard of Care for COPD, and patients referred by their general practitioners to one of the COPDnet hospitals will be included. To evaluate the feasibility and costs of care, semi-structured interviews will be held with patients, hospital personnel, health care professionals in the affiliated primary care region, and hospital and primary care group managers. Conclusions: The COPDnet integrated care model for COPD patients has been designed according to the current insights regarding effective care for patients with a chronic condition in general, and for patients with COPD in particular. It will be evaluated for its feasibility, potential health status benefits, and the costs of care of the diagnostic trajectory in secondary care. Keywords: COPD, COPD management, integrated care, chronic care model, health statu

Physiologic limitations during daily life activities in COPD patients.

Contains fulltext : 89742.pdf (publisher's version ) (Closed access)INTRODUCTION: Patients with COPD are known to be limited in their performance of activities of daily life (ADL). This observational study aims to investigate the ventilatory and metabolic demand of ADL in home settings of patients and evaluate possible mechanisms involved in physiological limitation during ADL in COPD. METHODS: In their home settings, 21 stable patients with COPD (GOLD II-IV, mean FEV(1) 43% predicted) were asked to perform their most dyspnea causing activities at their usual pace until symptoms discouraged further performance. Ten healthy control subjects, matched for age and gender, performed comparable activities. Ventilatory and metabolic demands of the ADL were studied using a portable breath-by-breath system. RESULTS: Compared with healthy controls, ADL time was shorter in patients (530 +/- 38 s vs. 318 +/- 37 s respectively) and activities resulted in important complaints of dyspnea. Oxygen consumption (V O(2)) during the activities was higher in patients compared to healthy subjects (957 +/- 51 vs. 768 +/- 63 mL/min resp.). Ventilatory demand (V E) for comparable activity (at isoV O(2)) was higher in patients and went together with complaints of dyspnea in patients, but not in healthy subjects. Ventilatory constraints like low ventilatory reserve and inspiratory reserve volume and dynamic hyperinflation occurred in more than 80% of the patients, especially in (very) severe patients. CONCLUSION: Patients with COPD experience limitations in the performance of ADL, which lead to reductions in ADL time and dyspnea complaints. There appears to be an important role for ventilatory limitations, which become more prominent as disease progresses.1 augustus 201