BACKGROUND:With advancements in cardiorespiratory care, the lifespan of patients with Duchenne Muscular Dystrophy (DMD) has significantly increased, shifting the focus from merely extending life to enhancing quality of life and managing complications effectively. However, there is a lack of interest in the management of adult DMD, highlighting a gap in holistic care approaches for this aging population. OBJECTIVE:This study aims to assess the current state of care for adult DMD patients in South Korea, focusing on multidisciplinary management and identifying key areas for improvement. METHODS:We retrospectively reviewed the medical records of 168 adult DMD patients who visited the Pulmonary Rehabilitation Center at [blinded for review] from 2022 to 2023. Demographic data, ventilatory support status, cardiac function, gastrointestinal, renal, and skeletal health were analyzed. RESULTS:Of the patients, 93.8% required non-invasive ventilatory support, while 6.2% used invasive ventilation. Cardiac medications were prescribed to 82.1% of patients, with beta-blockers being the most common. Renal dysfunction was found in 10.1% of patients, with one patient requiring dialysis. A significant portion (54.8%) were on anti-constipation medications due to gastrointestinal issues, and 41.7% of patients had undergone scoliosis correction surgery. Bone mineral density was significantly reduced in most patients, with an average Z-score of -3.3. CONCLUSIONS:This study emphasizes the need for improved care protocols that enhance lifespan and quality of life and manage complications for patients with DMD. This study advocates a shift in healthcare strategies toward a more integrated and holistic care model for adult patients with DMD.

Background/Objectives: Airstacking is a technique to improve lung compliance and maximum insufflation capacity (MIC) in patients with neuromuscular disorders by sequentially inflating the lungs using a manual resuscitation bag. Traditional methods lack standardization and rely on subjective feedback. A pilot study established optimal pressure ranges using a digital manometer, suggesting its potential to standardize airstacking. This study evaluates the longitudinal effects of airstacking with and without digital pressure feedback on pulmonary function. Methods: A stratified randomized controlled trial was conducted with 40 patients allocated into three groups: those performing airstacking appropriately (Group 1), those previously performing airstacking inappropriately but using digital pressure feedback during the study (Group 2), and those previously performing airstacking inappropriately without feedback (Group 3). Pulmonary function parameters, including forced vital capacity expressed as a percentage of the predicted normal value (FVC%), MIC, and assisted peak cough flow (aPCF), were measured at baseline, 3, 6, and 12 months. Caregiver outcomes, musculoskeletal pain, and satisfaction were assessed. Results: Digital pressure feedback did not significantly alter pulmonary function. Changes in FVC% (p = 0.164), MIC (p = 0.218) and aPCF (p = 0.787) were not statistically significant. However, Group 2 caregivers showed significant reductions in musculoskeletal pain than Group 3 (p = 0.036) and higher satisfaction (mean: 8.92/10). The proportion of caregivers achieving optimal pressure increased by 25% in Group 2 compared to 16.67% in Group 3. Conclusions: While digital pressure feedback did not significantly alter pulmonary function, it contributed to improved caregiver adherence and reduced musculoskeletal pain. These findings suggest that integrating objective pressure feedback into airstacking training may enhance technique standardization and caregiver experience, though its impact on pulmonary function remains uncertain.

Background: This study aimed to determine the prediction equations for calculating maximal inspiratory pressure using spirometry and thoracic ultrasonography (USG) after COVID-19 with gastroesophageal reflux disease (GERD). Methods: This cross-sectional study was conducted from January to December 2022 and included Indonesian adults recruited by consecutive sampling after they developed COVID-19 with GERD symptoms. The following tests were used: spirometry (forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1); thoracic USG (left diaphragm excursion (LDE) and right diaphragm excursion (RDE); and respirometry (maximal inspiratory pressure (MIP). The data were analyzed using Pearson correlational analysis and multiple linear regression. Results: Sixty-two participants were recruited: mean age 37.23 ± 9.76 years and average MIP 49.85 ± 18.13 cmH2O. MIP correlated significantly with FVC (r = 0.307; p = 0.015), LDE (r = 0.249; p = 0.051), FEV1(r = 0.186; p = 0.147), and RDE (r = 0.156; p = 0.221). We developed two models based on their applicability. Model 1 provides an MIP prediction equation for health facilities that have only spirometry: 23.841 – (20.455 × FEV1) + (26.190 × FVC). Model 2 provides an MIP prediction equation for health facilities that have both spirometry and thoracic USG: 3.530 – (20.025 × FEV1) + (25.354 × FVC) + (4.819 × LDE). Conclusion: In this study, measures of respiratory function correlated significantly with diaphragm excursion. MIP can be predicted from spirometry and thoracic USG data. Healthcare facilities can choose the prediction equation model that best meets their situation.

Central nervous system diseases, particularly neurodegenerative disorders, pose significant challenges in medicine. These conditions, characterized by progressive neuronal loss, have remained largely incurable, exacting a heavy toll on individuals and society. In recent years, in vivo reprogramming using Yamanaka factors has emerged as a promising approach for central nervous system regeneration. This technique involves introducing transcription factors, such as Oct4, Sox2, Klf4, and c-Myc, into adult cells to induce their conversion into neurons. This review summarizes the current state of in vivo reprogramming research in the central nervous system, focusing on the use of Yamanaka factors. In vivo reprogramming using Yamanaka factors has shown promising results in several animal models of central nervous system diseases. Studies have demonstrated that this approach can promote the generation of new neurons, improve functional outcomes, and reduce scar formation. However, there are still several challenges that need to be addressed before this approach can be translated into clinical practice. These challenges include optimizing the efficiency of reprogramming, understanding the cell of origin for each transcription factor, and developing methods for reprogramming in non-subventricular zone areas. Further research is needed to overcome the remaining challenges, but this approach has the potential to revolutionize the way we treat central nervous system disorders.

This study was performed to review which mHealth apps that improve brace-wearing compliance are currently available, and to carry out their quality assessments by listing their functionalities. We found ten mHealth apps in the literature review and commercial mHealth apps market (Google Play and App store). Then, the quality of these apps was evaluated by their transparency, health content, excellent technical content, security/privacy, issues of usability, and subjective ratings (THESIS) scale, and the functionalities of the included apps were reviewed. Regarding these functionalities, four categories (data acquisition, compliance enhancement, educational components, and additional functionalities) and twelve subcategories were identified. The mean overall quality of the apps was 3.00 out of 5. Although four of the apps achieved a score of 3.0 or more for their overall quality, indicating an acceptable quality, none of the apps scored higher than 4.0, which indicated a high or excellent quality. According to the sections, the transparency section had the highest rating (3.92) and the security/privacy section received the lowest rating (2.02). Given that the overall quality of current mHealth apps was not high, and their potential to motivate patients with idiopathic scoliosis to adhere to their bracing treatment, it is necessary to develop high-quality apps with appropriate functionalities for supporting brace treatment.

Mechanical insufflation-exsufflation has been reported to decrease pneumonia rates by about 90% for patients with Duchenne muscular dystrophy now living into their 40s and 50s without tracheotomy tubes. It greatly reduces respiratory complications and hospitalization rates to less than one per 10 patient-years for advanced spinal muscular atrophy type 1, through 25-30 years of age. It is most successful from the point at which small children become able to cooperate with it, generally from 3 to 5 years of age. However, since the 1950s, successful use to extubate and decannulate ventilator "unweanable" patients with little to no measurable vital capacity without resorting to tracheostomy has always been at pressures of 50-60 cm H2O via oronasal interfaces and at 60-70 cm H2O via airway tubes when present. It must usually also be used in conjunction with up to continuous noninvasive positive pressure ventilatory support. Centers that use these effectively have eliminated need to resort to tracheotomies for people with muscular dystrophies and spinal muscular atrophies, including unmedicated patients with spinal muscular atrophy type 1. Barotrauma has been rare despite dependence on it and noninvasive ventilatory support. Despite this, noninvasive respiratory management continues to be widely underutilized.

BACKGROUND:Although diaphragmatic training has been shown to improve gastroesophageal reflux disease (GERD) symptoms, its effectiveness in adults with GERD after COVID-19 has not been evaluated. This study examined the effectiveness of modified diaphragmatic training (MDT) on GERD questionnaire (GERDQ) score, diaphragmatic excursion, and maximum inspiratory pressure (MIP) in adults with GERD after COVID-19.METHODS:This single-blinded randomized control trial was conducted at Persahabatan Hospital from February to April 2023. The medical records of 364 patients with persistent gastrointestinal symptoms were evaluated; among these potential participants, 302 had symptoms before, and 62 after, COVID-19 infection. Fifty of these patients fulfilled the study inclusion and exclusion criteria and were randomly assigned to the intervention (n = 25) or control (n = 25) groups. Four weeks of diaphragmatic training were followed by MDT or standard diaphragmatic training. A follow-up assessment was conducted 30 days after the beginning of the training.RESULTS:The GERDQ score was significantly decreased in the pre-post-intervention group (10.44 ± 2.00 vs 1.84 ± 2.17) and the control group (8.64 ± 0.57 vs 3.32 ± 1.49), with p < 0.001. The intervention group showed significant improvements in the right diaphragmatic excursion (RDE) (44% vs 11.87%), left diaphragmatic excursion (LDE) (46.61% vs 13.62%), and MIP (75.26% vs 23.97%) compared with the control group.CONCLUSION:MDT in adults after COVID-19 with GERD enhanced diaphragmatic excursion and MIP and decreased symptoms of gastroesophageal reflux by 8.60 points of GERDQ. Respiratory symptoms and other side effects were comparable between the groups.

Introduction: Neuromuscular disorder (NMD) patients who have successfully removed tracheostomy tubes with the help of the non-invasive ventilation (NIV) and assistive coughing techniques have been reported. Aims and objectives: The purpose of this study was to identify the transitions of the long-term respiratory management status of these patients. Methods: Thirty-five NMD patients were successfully decannulated between 2007 and 2021. The medical records, discharge summaries, and thorough pulmonary function test results, including ventilation monitoring results, of each patient were retrospectively reviewed. Results: Muscular dystrophy accounted for the majority of 14, and amyotrophic lateral sclerosis (ALS) was the second, 6. Hypercapnic respiratory arrest (48.57%) and uncontrolled pneumonia (40.00%) caused ARF in the most cases. Figure 1 showed transitions of respiratory management state of patients during follow up period. Finally, all patients were successfully decannulated with the support of NIV with manually assisted coughing or MI-E. The median (IQR) follow-up duration after decannulation was 2860.00 (2635.00) days and 6 patients who underwent re-tracheostomy were able to maintain NIV for 1619.00 (1771.00) days. Conclusion: Non-invasive respiratory interventions are successful long-term alternatives for invasive mechanical ventilations and removing the unnecessary tracheostomy tube should be actively considered.

Alterations in PIEZO2 can result in distal arthrogryposis, which is characterized by non-progressive contracture in two or more areas of the body prior to birth. Here, we present a 29-year-old man born with multiple joint contractures and cleft palate. He showed short stature, low-set ears, macrotia, hearing impairment, micrognathia, a triangular face, blepharophimosis, deep-set eyes, high arched eyebrows, decreased facial expressions, retrognathia, arachnodactyly, absent phalangeal crease, shortening of the first and fifth toes, short stature, pectus excavatum, epicanthus, bilateral ptosis, and ophthalmoplegia. He also complained of dyspnea and severe kyphoscoliosis. Pulmonary function tests showed a severe restrictive pattern. An electrodiagnostic study did not reveal any neurogenic or myogenic features. Next-generation sequencing revealed a novel de novo heterozygous pathogenic variant in PIEZO2 (c.7251G>T; p.Trp2417Cys). Our study is the first report of a pathogenic variant in PIEZO2 in a Korean patient with distal arthrogryposis.

Purpose: To investigate the effect of regular monitoring of pulmonary function and ventilatory status on the initiation of non-invasive ventilation (NIV) between patients who were routinely monitored before receiving NIV and those who were not. Materials and Methods: This retrospective cohort study included subjects with Duchenne muscular dystrophy (DMD) who first received NIV between 2010 and 2019. The subjects were assigned to either the regular-follow-up (REG) group or the non-REG group, according to their follow-up status, before initiating NIV. We compared the number of emergent cases, the results of nocturnal ventilatory monitoring, and the pulmonary function of each group at initial ventilatory support. Results: In total, 73 subjects were enrolled in the REG group and 47 subjects in the non-REG group. There were significantly more emergency cases due to respiratory insufficiency in the non-REG group (12/47, 25.5%) than in the REG group (3/73, 4.1%). At the time of initial ventilatory support, hypoventilatory symptoms were more common and relatively severe in the non-REG group (37/47, 78.7%) than in the REG group (18/73, 24.7%). The average age at initial ventilatory support of the non-REG group was 2.15 years older than that of the subjects in the REG group. Moreover, subjects who were not regularly monitored exhibited greater deterioration in pulmonary function compared to those who were regularly followed up. Conclusion: Regular evaluation of pulmonary function and ventilatory status before the onset of ventilatory insufficiency is crucial to reduce the risk of patients with DMD requiring emergency care due to ventilatory insufficiency.

Abstract Aims Despite advances in contemporary cardiopulmonary therapies, cardiomyopathy remains the leading cause of death in patients with Duchenne muscular dystrophy (DMD). Also, the long‐term clinical outcomes of patients with DMD and cardiomyopathy is unknown. This study investigated long‐term clinical outcomes and their associated factors in patients with late‐stage DMD. Methods and results A total of 116 patients with late‐stage DMD (age > 15 years) were enrolled in this retrospective study. All enrolled patients were followed up at a single tertiary referral hospital. LV systolic dysfunction was dichotomously defined as reduced [left ventricular ejection fraction (LVEF) ≤ 40%] vs. preserved [>40%] based on the initial echocardiographic result. The primary endpoint was all‐cause death. The secondary endpoint was a composite event defined as death or unexpected hospitalization due to cardiovascular reasons including chest pain, dyspnoea, and generalized oedema. The patients were divided into preserved (n = 84, 72.4%) and reduced LVEF groups (n = 32, 27.6%). The mean age was 20.8 ± 5.9 years, the mean disease duration, 8.8 ± 3.7 years, and the mean follow‐up duration, 1708 ± 659 days. For primary endpoint, the reduced LVEF group showed a lower rate of overall survival (Reduced LVEF vs. Preserved LVEF; 81.3% vs. 98.8%, log‐rank P = 0.005). In the multivariable Cox regression analysis, brain‐natriuretic peptide (BNP) level (adjusted hazard ratio [HR] 1.088, 95% confidence interval [CI] 1.019–1.162, P = 0.011) and diuretic use (adjusted HR 9.279, 95%CI 1.651–52.148, P = 0.011) were significant predictors of all‐cause death in patients with DMD. For the secondary endpoint, the reduced LVEF group had a lower rate of freedom from composite events than the preserved LVEF group (65.6% vs. 86.9%, log‐rank P = 0.005). In the multivariable Cox regression analysis, BNP level (adjusted HR 1.057, 95%CI 1.005–1.112, P = 0.032) and diuretic use (adjusted HR 4.189, 95% CI 1.704–10.296, P = 0.002) were significant predictors of the composite event in patients with DMD. Conclusions Patients with DMD and reduced LVEF had worse clinical outcomes than those with preserved LVEF. BNP level and diuretic use were associated with adverse clinical outcomes in patients with late‐stage DMD, irrespective of LVEF.

OBJECTIVE Although air stacking is a widely used lung expansion therapy that is essential for restrictive lung diseases, important details such as peak insufflation pressure and number of squeezes have not been investigated. The purpose of this study was to standardize a method of air stacking to minimize problems with its application by identifying the optimal pressure and number of squeezes performed by professional physicians and investigating the current status of routine air stacking implementation in patients. METHODS This prospective cross-sectional test-retest study involved patients who had neuromuscular disorders and had performed air stacking exercise for longer than 1 year. Peak insufflation pressure and number of squeezes were measured to identify the differences between caregivers and physicians. Cases of incorrectly performed air stacking were investigated and categorized. The problems associated with air stacking were evaluated. RESULTS A total of 45 patients were included. Peak insufflation pressure was 41.4 (SD = 4.2; range = 34.8-50.0) cm H2O, and optimal number of squeezes was 3.1 (SD = 0.5; range = 2-4). When the air stacking methods used by caregivers were evaluated, 19 of 45 caregivers (42.2%) used methods inappropriately? Higher peak insufflation pressure and larger number of squeezes were observed with caregiver implementation. Thirty caregivers (66.7%) experienced finger or wrist pain; this problem was observed especially in female caregivers, who tended to incorrectly perform air stacking. CONCLUSIONS This pilot study showed that the optimal pressure of air stacking was 35 to 50 cm H2O. Caregivers often perform air stacking inappropriately, leading to complications without achieving the purpose of air stacking. The introduction of a new method, such as manometry, can be helpful for achieving optimal air stacking.

Two experiments were conducted to determine whether attention mediates the effects of affective distractors on cold pressor pain, or whether the cognitive processes of priming and appraisal best account for the effects. In Experiment I, 65 male respondents were exposed to either pleasant, neutral or unpleasant pictures selected from the International Affective Pictures System (IAPS). The cold-pressor test was administered simultaneously. Consistent with predictions based on priming and appraisal hypotheses, results revealed a linear trend across conditions, such that pain tolerance scores were higher as a function of picture pleasantness. A second study was conducted to examine the role of pain cues in the effects of negative affect on cold pressor pain. Thirty-nine male respondents were exposed to unpleasant pictures that either did or did not include pain-related material. Respondents who viewed pictures without pain cues tolerated the cold water for a longer period of time than respondents who viewed pictures that contained pain-related information. Priming and appraisal processes that might underlie the observed differences, and the type of affective distractors that could be meaningful for enhancing pain tolerance, are discussed.

The respiratory muscle dysfunction due to neuromuscular disease, cervical spinal cord injury or severe kyphoscoliosis is characterized by restrictive ventilator defect which show a decrease in lung volume. In the group of restrictive lung disease, hypoventilation due to reduced lung volume leads to hypercapnia. If respiratory dysfunction progresses and cannot be stopped, the eventual result is ventilatory failure. When this progression toward ventilatory failure is noted, careful follow up and monitoring of hypoventilation symptoms and pulmonary function are necessary to assess the need for ventilatory support to minimize complications and reduce mortality. Pulmonary rehabilitation, which applies non-invasive ventilation support along with various methods of clearing secretions in the airway, relieves respiratory symptoms and consequently contributes to extending life span as well as improving quality of life of patients with restrictive lung disease. Therefore, it is necessary to accurately identify the characteristics of restrictive lung diseases and access appropriate pulmonary rehabilitation based on them.

Dystrophinopathy is a group of inherited phenotypes arising from pathogenic variants in DMD. We evaluated the clinical and genetic characteristics of Korean patients with genetically confirmed dystrophinopathy. We retrospectively reviewed medical records (January 2004-September 2020) from the myopathy database maintained at the study hospital and found 227 patients from 218 unrelated families with dystrophinopathy. Clinical phenotypes included 120 (53%) Duchenne muscular dystrophy (DMD) cases, 20 (9%) intermediate phenotype muscular dystrophy (IMD) cases, 65 (29%) Becker muscular dystrophy (BMD) cases, 18 (8%) undetermined phenotypes, and 4 (2%) symptomatic carriers. The median ages at symptom onset and diagnosis were 5.0 years (interquartile range [IQR]: 3.8-8.0) and 12.0 years (IQR: 7.0-21.0), respectively. Total manual muscle test (MMT) scores decreased annually in patients with DMD, IMD, and BMD. Overall, when age increased by 1 year, total MMT scores decreased on average by -1.978, -1.681, and -1.303 in patients with DMD (p<0.001), IMD (p<0.001), and BMD (p<0.001), respectively. Exonic deletion and duplication were reported in 147 (67%) and 31 (14%) of the 218 unrelated probands, respectively. A total of 37 different small sequence variants were found in 40 (18%) of the 218 probands. The reading frame rule was applicable to 142 (94%) of the 151 probands. The present results highlight the long-term natural history and genetic spectrum of dystrophinopathy in a large-scale Korean cohort.