Won Ah Choi

Myotonic dystrophy (DM) type 1 is a progressive multisystem disorder with significant respiratory complications accounting for up to 70% of mortality. Sleep-disordered breathing affects 50-80% of DM type 1 patients, profoundly impacting quality of life and prognosis. This review comprehensively addresses pathophysiology of respiratory dysfunction, diagnostic approaches including pulmonary function testing and polysomnography, and contemporary management strategies. Key interventions include positive airway pressure therapy for sleep apnea, noninvasive ventilatory support for nocturnal hypoventilation, airway clearance techniques, and pharmacological/non-pharmacological management of excessive daytime sleepiness. Recent evidence highlights the complexity of excessive daytime sleepiness, involving both sleep-disordered breathing and central nervous system dysfunction, necessitating a multifaceted therapeutic approach. Early detection through regular monitoring of forced vital capacity, maximal inspiratory pressure, and nocturnal gas exchange, combined with proactive intervention before respiratory failure develops, are essential for improving outcomes. Individualized treatment plans, patient education on disease progression and self-management optimize long-term prognosis in this challenging population.

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.

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.

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.

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.

Cho HE, et al. Yonsei Med J. 2022 Jun;63(6):578-584. https://doi.org/10.3349/ymj.2022.63.6.578

Lee JW, et al. Yonsei Med J. 2021 Apr;62(4):338-343. https://doi.org/10.3349/ymj.2021.62.4.338