Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism

Background Mulibrey nanism (MUL) is a rare growth restriction disorder with multiple organ manifestations caused by genetic defects affecting the TRIM37 protein. A perimyocardial heart disease is the most serious manifestation. Many MUL children appear to suffer from airway obstruction related to infection or exercise, prompting use of inhaled therapies. Asthma medication is continued up to adolescence or even to adulthood due to persisting of symptoms. The pulmonary pathophysiology has previously not been evaluated in any MUL cohort. Methods Thirty three finnish MUL patients (median age 20 years) were investigated with several lung function tests: spirometry with bronchodilatation test, single-breath diffusing capacity for carbon monoxide, single-breath lung volume measurements with helium dilution, and thoracic gas volume, airway resistance and specific conductance measurements with a body plethysmograph. As MUL typically affects body proportions, all variables were compared with reference values and with predicted values calculated from sitting height. Results Total lung capacity and forced vital capacity were markedly reduced (total lung capacity [TLC] and forced vital capacity [FVC], P = 12% and >= 200 mL) was found only in one patient. Conclusion MUL patients typically have volume restriction of the lungs, but function of the pulmonary tissue remains intact. Evidence of asthma in lung function testing at adult age is rare.Peer reviewe

Thoracic gas compression during forced expiration in patients with emphysema, interstitial lung disease and obesity

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A Case of Occupational Rhinitis Caused by Porcine Pancreatic Extract Developing into Occupational Asthma

Porcine pancreatic extracts (PPE), which are widely used as a digestive drug in Korea, are composed of α-amylase and lipase. Such enzymes are commonly described as occupational allergens. This is the first report of occupational rhinitis caused by PPE developing into occupational asthma in a hospital nurse. She showed strong positive response in the skin prick test (SPT) (5+, wheal ratio of allergen to histamine) and had a high serum-specific IgE level to PPE, but showed a negative response in the methacholine bronchial challenge test (MBT). She had been exposed to PPE intermittently with intermittent medications for rhinitis. Two years later, she presented with rhinitis and additional asthmatic symptoms. In contrast to her first visit, she showed a positive response in the MBT, and developed bronchoconstriction in the PPE-bronchial provocation test (BPT). These findings suggest that inhalation of PPE powder can induce IgE-mediated occupational rhinitis in a hospital setting, which will develop into occupational asthma if avoidance is not complete

The combined effect of exposures to vapours, gases, dusts, fumes and tobacco smoke on current asthma

Smoking, exposure to environmental tobacco smoke (ETS) and occupational exposure to vapours, gases, dusts or fumes (VGDF) increase asthma symptoms. The impact of combined exposure is less well established. We aimed to evaluate the risk of combined exposure to smoking, ETS and VGDF on the prevalence of current asthma and asthma-related symptoms with a postal survey among a random population of 16,000 adults, aged 20-69 years (response rate 51.5%). The 836 responders with physician-diagnosed asthma were included in the analysis. Of them, 81.9% had current asthma defined as physician-diagnosed asthma with current asthma medication use or reported symptoms. There was a consistently increasing trend in the prevalence of current asthma by increased exposure. The highest prevalence of multiple symptoms was in smokers with VGDF exposure (92.1%) compared to the unexposed (73.9%, p = 0.001). In logistic regression analysis, combined exposure to several exposures increased the risk in all analysed symptoms (p = 0.002-0.007). In conclusion, smoking and exposure to ETS or VGDF increased the prevalence of current asthma and multiple symptoms. The combined exposure carried the highest risk. Preventive strategies are called for to mitigate exposure to tobacco smoke and VGDF.Peer reviewe

SERPINE2 haplotype as a risk factor for panlobular type of emphysema

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Computerized respiratory sounds: a comparison between patients with stable and exacerbated COPD

INTRODUCTION: Diagnosis of acute exacerbations of chronic obstructive pulmonary disease (AECOPD) is often challenging as it relies on patients' clinical presentation. Computerized respiratory sounds (CRS), namely crackles and wheezes, may have the potential to contribute for the objective diagnosis/monitoring of an AECOPD. OBJECTIVES: This study explored if CRS differ during stable and exacerbation periods in patients with COPD. METHODS: 13 patients with stable COPD and 14 with AECOPD were enrolled. CRS were recorded simultaneously at trachea, anterior, lateral and posterior chest locations using seven stethoscopes. Airflow (0.4-0.6l/s) was recorded with a pneumotachograph. Breathing phases were detected using airflow signals; crackles and wheezes with validated algorithms. RESULTS: At trachea, anterior and lateral chest, no significant differences were found between the two groups in the number of inspiratory/expiratory crackles or inspiratory wheeze occupation rate. At posterior chest, the number of crackles (median 2.97-3.17 vs. 0.83-1.2, P < 0.001) and wheeze occupation rate (median 3.28%-3.8% vs. 1.12%-1.77%, P = 0.014-0.016) during both inspiration and expiration were significantly higher in patients with AECOPD than in stable patients. During expiration, wheeze occupation rate was also significantly higher in patients with AECOPD at trachea (median 3.12% vs. 0.79%, P < 0.001) and anterior chest (median 3.55% vs. 1.28%, P < 0.001). CONCLUSION: Crackles and wheezes are more frequent in patients with AECOPD than in stable patients, particularly at posterior chest. These findings suggest that these CRS can contribute to the objective diagnosis/monitoring of AECOPD, which is especially valuable considering that they can be obtained by integrating computerized techniques with pulmonary auscultation, a noninvasive method that is a component of patients' physical examination

Biomarkers Predicting Isocyanate-Induced Asthma

Three diisocyanates can cause occupational asthma (OA): toluene diisocyanate (TDI), 4,4 diphenylmethane diisocyanate (MDI), and 1,6-hexamethylene diisocyanate (HDI). We analyzed potential biomarkers of isocyanate-induced OA, based on investigated immunologic, genetic, neurogenic, and protein markers, because there is no serological testing method. The prevalence of serum IgG to cytokeratin (CK)18 and CK19 in TDI-OA was significantly higher than in controls, although the prevalence of these antibodies was too low for them to be used as biomarkers. Another candidate biomarker was serum IgG to tissue transglutaminase (tTG), because the prevalence of serum specific IgG to tTG was significantly higher in patients with TDI-OA than in controls. The human leukocyte antigen (HLA) DRB1*1501-DQB1*0602-DPB1*0501 haplotype may be used as a genetic marker for TDI-OA in Koreans via enhanced specific IgE sensitization in exposed subjects. The genetic polymorphisms of catenin alpha 3, alpha-T catenin (CTNNA3) were significantly associated with TDI-OA. Additionally, examining the neurokinin 2 receptor (NK2R) 7853G>A and 11424 G>A polymorphisms, the NK2R 7853GG genotype had higher serum vascular endothelial growth factor (VEGF) levels than the GA or AA genotypes among Korean workers exposed to TDI. To identify new serologic markers using a proteomic approach, differentially expressed proteins between subjects with MDI-OA and asymptomatic exposed controls in a Korean population showed that the optimal serum cutoff levels were 69.8 ng/mL for ferritin and 2.5 µg/mL for transferrin. When these two parameters were combined, the sensitivity was 71.4% and the specificity was 85.7%. The serum cytokine matrix metalloproteinase-9 (MMP-9) level is a useful biomarker for identifying cases of TDI-OA among exposed workers. Despite these possible biomarkers, more effort should be focused on developing early diagnostic biomarkers using a comprehensive approach based on the pathogenic mechanisms of isocyanate-induced OA

Exercise is associated with younger methylome and transcriptome profiles in human skeletal muscle

Exercise training prevents age-related decline in muscle function. Targeting epigenetic aging is a promising actionable mechanism and late-life exercise mitigates epigenetic aging in rodent muscle. Whether exercise training can decelerate, or reverse epigenetic aging in humans is unknown. Here, we performed a powerful meta-analysis of the methylome and transcriptome of an unprecedented number of human skeletal muscle samples (n = 3176). We show that: (1) individuals with higher baseline aerobic fitness have younger epigenetic and transcriptomic profiles, (2) exercise training leads to significant shifts of epigenetic and transcriptomic patterns toward a younger profile, and (3) muscle disuse "ages" the transcriptome. Higher fitness levels were associated with attenuated differential methylation and transcription during aging. Furthermore, both epigenetic and transcriptomic profiles shifted toward a younger state after exercise training interventions, while the transcriptome shifted toward an older state after forced muscle disuse. We demonstrate that exercise training targets many of the age-related transcripts and DNA methylation loci to maintain younger methylome and transcriptome profiles, specifically in genes related to muscle structure, metabolism, and mitochondrial function. Our comprehensive analysis will inform future studies aiming to identify the best combination of therapeutics and exercise regimes to optimize longevity

Alterations in psychosocial health of people affected by asbestos poisoning

OBJECTIVE To analyze the state of psychosocial and mental health of professionals affected by asbestos. METHODS A cross-sectional study was conducted with 110 professionals working in the Ferrolterra region of Spain, who were affected by asbestos poisoning. This group was compared with a group of 70 shipyard workers with no manifestation of work-related diseases. All the participants were male with a mean age of 67 years. This study was conducted in 2013, between January and June, and used the SCL-90 questionnaire by Derogatis as its primary measure for research. This questionnaire consists of 9 variables that measure psychosomatic symptoms. In addition, an overall index of psychosomatic gravity was calculated. The participants were also asked two questions concerning their overall perception of feeling good. Data were analyzed by ANOVA and logistic regression. RESULTS Participants affected by asbestos poisoning showed high occurrence rates of psychological health variables such as somatization, obsessive-compulsive, interpersonal sensitivity, depression, anxiety, hostility, phobic anxiety, paranoid ideation, psychoticism, and global severity index. CONCLUSIONS Social interaction as a differentiating factor between workers affected by work-related chronic syndromes as compared to healthy participants will possibly aid in the development of intervention programs by improving the social network of affected individuals

Effects of a respiratory physiotherapy session in patients with LRTI: a pre/post-test study

Introduction The role of respiratory physiotherapy (RP) in lower respiratory tract infections (LRTI) has been questioned. However, studies have focused on hospitalised patients, and the presence/absence of an underlying disease has been neglected. Objectives To assess the effects of a RP session in community patients with LRTI and to explore the differences between patients with pneumonia (restrictive disease – AR) and those with exacerbations of an obstructive disease (AO). Methods A pre/post-test study was conducted. A RP session was applied to patients with LRTI and crackles, wheezes, dyspnoea, perception of sputum and oxygen saturation were collected pre/post session. Comparisons were performed using paired t-tests or Wilcoxon tests. Results Thirty patients (14 males, 55.23 ± 17.78 years) with pneumonia (AR, n = 12), exacerbations of chronic obstructive pulmonary disease, acute bronchitis and asthma (AO, n = 18) were enrolled. After treatment, the total sample presented lower wheeze rates at trachea (P = 0.02; r = −0.54) and less sputum (P = 0.01; r = −0.47). AR patients presented a decrease in the number of crackles (P < 0.05; 0.30 < dz < 0.26) and number and rate of wheezes at chest locations (P < 0.05; −0.56 < r < −0.48). AO patients showed an increase in the number of crackles (P < 0.05; 0.20 <dz <0.31), wheeze frequency (P = 0.03; r = −0.27) and dyspnoea (P = 0.04; r = −0.55); and a decrease in the number of wheezes at trachea (P = 0.02; r = −0.54). Conclusions RP seems effective in reducing wheezes and perception of sputum in patients with LRTI. However, when considering AR and AO diseases separately, further changes in respiratory sounds and dyspnoea emerged. This highlights the importance of considering subgroups of patients with LRTI to develop RP evidence-base practice