Nutritional Issues among Children with Duchenne Muscular Dystrophy-Incidence of Deficiency and Excess Body Mass.

The progression of Duchenne muscular dystrophy (DMD)requires the assessment of nutritional disturbances at each stage of the disease. The purpose of this study was to assess the nutritional status in various ages of boys with DMD using screening and in-depth evaluation methods. Body composition by Dual X-ray Absorptiometry (DXA), basal metabolic rate (BMR) by indirect calorimetry, a questionnaire of nutritional status-Pediatric Nutrition Screening Tool (PNST)-and laboratory parameters were performed. In the cohort of 93 boys aged 8.54 (5.9-12.6 years), inappropriate nutritional status occurred in 41.8% of boys (underweight 11.8%, overweight 16.0%, and obesity 14.0%). In the 10-13 age group, the occurrence of overweight and underweight was the highest. Based on PNST, 15.1% of patients were at nutritional risk (≥2 points)-the most in the 14-17 age group (29%). A negative correlation was identified between PNST and z-scores of body weight, BMI, and FFMI (r Spearman = -0.49, -0.46, and -0.48, respectively; p < 0.05). There were no differences between BMR results from indirect calorimetry and calculations from the Schofield formula for any age group. In obese boys, the caloric requirement in indirect calorimetry was significantly lower than that indicated by the calculations according to the Schofield formula (p < 0.028). Inappropriate nutritional status occurred in almost half of the children with DMD. The age group in which nutritional disorders were most frequently identified was 10-13 years old. PNST could be considered a tool for screening malnutrition after testing a larger group of DMD patients.

Inappropriate dietary habits in tobacco smokers as a potential risk factor for lung cancer: Pomeranian cohort study.

OBJECTIVE: Little is known whether diet quality modulates lung cancer risk in smokers. The aim of the study was to assess the dietary habits of a large group of volunteers participating in the lung cancer screening program. METHODS: The 62-item food frequency questionaire was completed by 5997 participants, 127 of whom (2.1%) were later diagnosed with lung cancer. Two approaches were applied to identify dietary habits. The non-healthy diet index was calculated, and a direct analysis of the frequency of consumption was used. A logistic regression analysis was performed to estimate the association between food product intake and the risk of lung cancer. RESULTS: The study population did not follow the Polish nutritional recommendations. They consumed fruits and vegetables too rarely and far too often ate non-recommended foods, such as processed meat, refined products, sugar, sweets, and salty snacks. Participants diagnosed with lung cancer more often consumed low-quality processed meat, red meat, fats, and refined bread and less often whole-grain products, tropical fruits, milk, fermented unsweetened milk drinks, nuts, honey, and wine. The non-healthy diet index score was significantly higher in those with cancer diagnosis compared with those without lung cancer (11.9 ± 5.2 versus 10.9 ± 5.3; P < 0.001). CONCLUSIONS: The surveyed population of smokers did not follow dietary recommendations; there was a particularly high index of an unhealthy diet in by people diagnosed with lung cancer. Prevention programs should be based on encouraging smoking cessation, lifestyle modification, and methods of early detection of lung cancer. Lifestyle modification should include changing eating habits based on a healthy diet, which may be an additional factor in reducing the risk of developing cancer.

The Association between the Respiratory System and Upper Limb Strength in Males with Duchenne Muscular Dystrophy: A New Field for Intervention?

Progressive, irreversible muscle weakness is the leading symptom of Duchenne muscular dystrophy (DMD), often resulting in death from respiratory muscle failure. Little is known about the relationship between the functioning of the respiratory system and the hand grip-a function which remains long preserved. This study aimed to investigate the interdependence between muscle strength and the function of both hand grip and the respiratory system in patients with DMD. MATERIALS AND METHOD: The study included cohort patients, aged 6-17, with DMD, recruited from the Rare Disease Centre, Gdansk, Poland. Clinical status (Vignos scale, Brook scale), pulmonary function (respiratory muscle strength-MIP, MEP); spirometry (FEV1; FVC), as well as upper limb function (performance of the upper limb-PUL 2.0) and hand grip strength (HGS) (hand-held dynamometer) were evaluated in all participants. RESULTS: Finally, 53 boys (mean age 11.41 ± 3.70 years, 25 non-ambulant) were included. Each of the participants presented a lower %pv of MIP (48.11 ± 27), MEP (38.11 ± 22), PUL (75.64 ± 27), and HGS (33.28 ± 18). There were differences between the ambulatory and non-ambulatory groups in values of MIP, MEP, FVC, PUL, HGS (p < 0.001 for all), and FEV1 (p < 0.013). There were correlations between PUL, HGS, and MIP (R = 0.56; R = 0.61, p < 0.001 both), MEP (R = 0.59; R = 0.62, p < 0.001), FVC (R = 0.77; R = 0.77, p < 0.001), and FEV1 (R = 0.77; R = 0.79; p < 0.001). These correlations were found for all participants, but non-ambulatory patients presented stronger relationships. CONCLUSIONS: 1. The pulmonary and upper limb functions were within the normal range in ambulatory and low in non-ambulatory patients with DMD, but the muscle strength of both systems was low, regardless of the stage of the disease. 2. There seems to be an interdependence between the respiratory system and upper limb strength in terms of muscle strength and function in DMD patients, which is stronger in non-ambulatory patients. This may be the basis for the creation of a new personalized plan in rehabilitation-the simultaneous rehabilitation of the respiratory and upper limb muscles. Further studies on this theory should be conducted.

Benefits of Telemonitoring of Pulmonary Function-3-Month Follow-Up of Home Electronic Spirometry in Patients with Duchenne Muscular Dystrophy.

BACKGROUND: In patients with Duchenne Muscular Dystrophy (DMD), the respiratory system determines the quality and length of life; therefore, the search for easy and safe everyday monitoring of the pulmonary function is currently extremely important, particularly in the COVID-19 pandemic. The aim of the study was to evaluate the influence of a three-month home electronic spirometry (e-spirometry) monitoring of the pulmonary function and strength of respiratory muscles as well as the patients' benefits from this telemetric program. METHODS: Twenty-one boys with DMD (aged 7-22; non-ambulatory-11) received a remote electronic spirometer for home use with a special application dedicated for patients and connected with a doctor platform. Control of the hospital spirometry (forced vital capacity-FVC, forced expiratory volume in 1 second-FEV1, peak expiratory flow-PEF) and respiratory muscle strength (maximal inspiratory-MIP and expiratory pressures-MEP) before and after the three-month monitoring were performed as well telemonitoring benefit survey. RESULTS: A total of 1403 measurements were performed; 15 of the participants were able to achieve correct attempts. There were no differences between the hospital and the home spirometry results as well as between respiratory muscle strength during v1 vs. v2 visits for the whole study group (all parameters p > 0.05); the six participants achieved increased value of FVC during the study period. There was a positive correlation between ΔFVC and the number of assessments during the home spirometry (r = 0.7, p < 0.001). Differences between FVC and MIPcmH2O (r = 0.58; p = 0.01), MEPcmH2O (r = 0.75; p < 0.001) was revealed. The mean general satisfaction rating of the telemonitoring was 4.46/5 (SD 0.66) after one month and 4.91/5 (SD 0.28) after three months. The most reported benefit of the home monitoring was the improvement in breathing (38% of participants after one month, 52% after three months of telemonitoring). Forgetting about the procedures was the most common reason for irregular measurements; the participants reported also increased motivation but less time to perform tests. CONCLUSIONS: The study indicates high compliance of the home telemonitoring results with the examination in the hospital. Benefits from home spirometry were visible for all participants; the most important benefit was breathing improvement. The remote home spirometry is usable for everyday monitoring of the pulmonary function in DMD patients as well can be also treated as respiratory muscle training.

Erythropoietin Concentration in Boys With p.His63Asp Polymorphism of the HFE Gene.

The molecular mechanism that regulates iron homeostasis is based on a network of signals, which reflect on the iron requirements of the body. HFE-related hemochromatosis is characterized by excessive intestinal absorption of dietary iron, in particular cases resulting in pathologically high iron storage in tissues and organs. During childhood, HFE gene homozygosity or heterozygosity manifests exclusively in the form of biochemical abnormalities. Because of their mutual link, bioavailable iron and endogenous erythropoietin (EPO) are indispensable for effective erythropoiesis. We analyzed the impact of p.(His63Asp) polymorphism of the HFE gene on erythropoiesis taking into consideration endogenous EPO production in the developmental age. In the study we performed, we observed a significant, strong and negative correlation between the concentration of EPO, hemoglobin, and red blood cell count. A negative trend was also noted on the impact of iron concentration and transferrin saturation on EPO production. In conclusion, this preliminary study demonstrates an impaired impact of endogenous EPO on erythropoiesis in the presence of increased iron content in carriers of p.(His63Asp) (heterozygotes) variant of the HFE gene in developmental age.

IFNG, FCER1A, PCDHB10 expression as a new potential marker of efficacy in grass pollen allergen-specific immunotherapy.

INTRODUCTION: Allergen-specific immunotherapy (AIT) is the core treatment in allergic rhinitis and asthma. Although widely used, some patients do not benefit from treatment and there is no efficacy objective marker. AIM: To define the profile of gene transcripts during the build-up phase of AIT and their comparison to the control group and then search for a viable efficacy marker in relation to patient symptoms. MATERIAL AND METHODS: AIT was administered in 22 patients allergic to grass pollen. Analysis of 15 selected transcript expression was performed in whole blood samples taken before AIT (sample A) and after reaching the maintenance dose (sample B). The control group included 25 healthy volunteers (sample C). The primary endpoint was Relative Quantification. The gene expression analysis was followed by clinical evaluation with the use of Allergy Control Score (ACS). RESULTS: Comparison between samples A and B of gene expression showed a significant increase in IFNG expression (p = 0.03). In relation to the control group, pretreatment samples from patients showed higher levels of AFAP1L1 (p = 0.006), COMMD8 (p = 0.001), PIK3CD (p = 0.027) and TWIST2 (p = 0.0003) in univariate analysis. A generalized linear regression model was built according to the Bayesian Information Criterion based on the IFNG, FCER1A and PCDHB10 expression pattern for prediction of the AIT outcome. The model showed a correlation in predicted and observed changes in ACS. CONCLUSIONS: There is a significant change in the expression of IFNG during the build-up phase of AIT. The authors propose an in vitro model of AIT efficacy prediction for further validation.

Is It Possible to Have Home E-Monitoring of Pulmonary Function in Our Patients with Duchenne Muscular Dystrophy in the COVID-19 Pandemic?-A One Center Pilot Study.

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. Pulmonary function is crucial for duration of life in this disease. Currently, the European Respiratory Society is focused on digital health, seeking innovations that will be realistic for digital respiratory medicine to support professionals and patients during the COVID-19 pandemic. AIMS: The aim of this study was to investigate whether it is possible to monitor pulmonary function at home using an individual electronic spirometry system in boys with Duchenne muscular dystrophy. MATERIALS AND METHODS: In this observational, prospective study, conducted from March 2021 to June 2021, twenty boys with DMD (aged 8-16) were enrolled. The patients were recruited from the Rare Disease Centre, University Clinical Centre, of Gdansk, Poland. Medical history and anthropometric data were collected, and spirometry (Jaeger, Germany) was performed in all patients at the start of the study. Each patient received an electronic individual spirometer (AioCare) and was asked to perform spirometry on their own every day, morning and evening, at home for a period of 4 weeks. The number of measurements, correctness of performing measurements, forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), and peak expiratory flow (PEF) were evaluated. RESULTS: Finally, 14 out of 20 boys enrolled in the study with a mean age of 12.5 years (7 non-ambulatory) applied and received a home spirometer (AioCare). A total of 283 measurements were performed by all patients at home for 4 weeks. Half of the patients were able to perform measurements correctly. There were no significant differences between mean values of FVC, FE1, PEF between home and hospital spirometry (p > 0.05) expect PEF pv% (p < 0.00046). Patients with higher FEV1 (p = 0.0387) and lower BMI (p = 0.0494) were more likely to take home spirometer measurements. The mean general satisfaction rating of home-spirometry was 4.33/5 (SD 0.78), the mean intelligibility rating was 4.83/5 (SD 0.58). Reasons for irregular measurements were: forgetting (43%), lack of motivation (29%), difficulty (14%), lack of time (14%). CONCLUSION: Home electronic monitoring of pulmonary function in patients with DMD is possible to implement in daily routines at home. This protocol should be introduced as early as possible in patients 7-8 years old with good, preserved lung function. Patients accept this form of medical care but require more education about the benefits of e-monitoring. There is a need to implement a system to remind patients of the use of electronic medical devices at home, e.g., via SMS (short message service).

Respiratory Telerehabilitation of Boys and Young Men with Duchenne Muscular Dystrophy in the COVID-19 Pandemic.

BACKGROUND: The COVID-19 pandemic forced reorganization of the multidisciplinary healthcare system for Duchenne muscular dystrophy. Digital solutions seem to be optimal for providing rehabilitation at this time. The aim of this study was to investigate whether it is possible to conduct respiratory physical therapy with the use of telerehabilitation in Duchenne muscular dystrophy. METHODS: The study was conducted during an online conference for families with DMD. During the physical therapy panel we showed the video with the instructions of respiratory exercises. All participants (n = 152) were asked to fill in the online survey evaluating the quality, acceptance, and understanding of the instructions. RESULTS: The survey was filled in by 45 (29.6%) participants. The mean rating of satisfaction was 4.70/5, and for intelligibility was 4.78/5. Thirty-seven (82.2%) patients declared that they had performed the exercises, all caregivers declared that it was possible to perform the proposed exercises a few times a week or daily, and only two respondents replied to invitations to individual online sessions. CONCLUSIONS: Findings from the study show that respiratory telerehabilitation may be implemented for DMD patients; however, the interest in digital rehabilitation among caregivers of DMD boys in Poland is low. The reasons for this situation require further research.

Dietary Habits before and during the COVID-19 Epidemic in Selected European Countries.

During the so-called "second wave of the pandemic" in Europe, the authors conducted a cross-sectional online survey that aimed to examine changes in dietary habits and associated practices, as well as physical activity during the COVID-19 pandemic and before the onset of lockdowns in three European countries: Poland, Austria and the United Kingdom. METHODS: The online observational study, both prospective and retrospective, conducted with the use of social media for the distribution of an anonymous online questionnaire, was completed from 1 October to 30 October 2020, during the second wave of the pandemic in Europe. The study encompassed a total of 1071 adults from Poland (n = 407), Austria (n = 353) and the United Kingdom (n = 311). RESULTS: The results of this study indicate that the COVID-19 confinement period influenced eating behavior and the level of physical activity in a group of adult residents of Poland, Austria and the United Kingdom. The general shopping frequency decreased, regardless of the place and manner. However, there was an increased interest in online grocery shopping. The resulting data revealed an increased frequency of the daily consumption of food products such as dairy, grains, fats, vegetables and sweets (p < 0.05). A rise in the frequency of purchasing frozen goods and food with long shelf life has also been observed. The changed workplace and working conditions or unemployment probably affected a perceptible rise in alcohol consumption (p = 0.02). In turn, physical activity levels markedly decreased, which reflected the body mass changes. CONCLUSION: The dietary habits in the studied countries have changed as a result of the pandemic situation. They contribute to the aggravation of the problem of excess body weight and its health consequences.

Impact of tobacco smoking on pulmonary and kidney function after successful kidney transplantation - A single-centre pilot study.

The all consequences of tobacco smoking on the lungs and kidney function in kidney transplant recipients are unknown. We investigate the impact of tobacco smoking on lung and kidney functions in kidney transplantation recipients. METHODS: Finally, 55 patients were evaluated after kidney transplantation (age 50.8±13.4). Pulmonary function was performed using spirometer Pneumo Screen; anthropometry with body composition using electronic scale, dynamometer, and multi-frequency bioimpedance analysis. Biochemical parameters were measured in serum, eGFR was calculated according to the CKD-EPI formula. RESULTS: Smoking history was reported by 23 kidney transplant recipients (42%); among them 12 (22%) were current smokers (mean pack-years=28.3±15.2). There were significant differences of spirometry parameters (FEV1, FEV1/FVC, MMEF% predictive value) between non-smokers vs active smokers (p<0.003; p<0.005; p<0.04; respectively). Current smokers presented significantly lower eGFR and higher IL-6 serum levels compare to both-past smokers and non-smokers (p<0.02; p<0.04 respectively), the other biochemical parameters did not differ between these groups. The pack-years positively correlated with MRC dyspnoe scale and triglycerides, and negatively with HDL cholesterol levels. CONCLUSIONS: Active tobacco smoking was relatively common in kidney transplant recipients and was associated with poorer pulmonary function, systemic inflammation, and its possible impact on kidney graft. Other parameters of inflammation associated with renal function should be studied in active smokers before and after kidney transplantation. Effective smoking cessation programs are required in patients before and after kidney transplantation.