Effects of Modified Diaphragmatic Training on Gastroesophageal Reflux Disease Questionnaire Score, Diaphragmatic Excursion, and Maximum Inspiratory Pressure in Adults with Gastroesophageal Reflux Disease After COVID-19: A Single-Blinded Randomized Control.

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.

Pulmonary rehabilitation in high cervical spinal cord injury: a series of 133 consecutive cases.

STUDY DESIGN: This is a retrospective study. OBJECTIVES: To detail respiratory management after a high cervical spinal cord injury (HCSCI). SETTING: A tertiary university hospital's pulmonary rehabilitation center to which most individuals with HCSCI and ventilatory insufficiency throughout Korea are referred. METHODS: The medical records of individuals with complete or sensory incomplete HCSCI admitted to the pulmonary rehabilitation center and receiving the center's standard treatment were retrospectively reviewed, focusing on respiratory state transitions. RESULTS: In total, 133 individuals with a C1-4 neurological level of injury (A: 101 or B: 32 on the American Spinal Injury Association Impairment Scale) were identified; 110 (82.7%) had indwelling tracheostomy tubes at admission and 75 underwent successful decannulation during admission. At the final follow-up, 76 individuals (57.1%) still required mechanical ventilation (MV) and 37 (27.8%) still required indwelling tracheostomy tubes. Of the individuals who had tracheostomy tubes without ventilatory support, 30 underwent decannulation and were discharged without non-invasive MV support. Of those with MV via tracheostomy on admission, 25 were switched to non-invasive MV after decannulation. CONCLUSION: Respiratory management in complete or sensory incomplete HCSCI needs to be determined by reflecting the current ventilatory state with a comprehensive evaluation of pulmonary function and ventilatory state monitoring. Pulmonary rehabilitation in individuals with HCSCI should be emphasized in the aspect of improving quality of life by avoiding unwanted tracheostomy and changing management methods depending on their recovery.

Clinical Implications of Assisted Peak Cough Flow Measured With an External Glottic Control Device for Tracheostomy Decannulation in Patients With Neuromuscular Diseases and Cervical Spinal Cord Injuries: A Pilot Study.

OBJECTIVE: To investigate the clinical usefulness and significance of an external control device substituting for glottic function in determining the feasibility of decannulation in tracheostomized patients with neuromuscular diseases and cervical spinal cord injuries whose assisted peak cough flow (APCF) was unmeasurable or <160L/min. DESIGN: Before-after trial. SETTING: Inpatient setting in a university hospital. PARTICIPANTS: Tracheostomized patients (N=16; 11 with neuromuscular diseases and 5 with cervical spinal cord injuries) were recruited. INTERVENTIONS: Unassisted peak cough flow (UPCF) and APCF were measured with and without an external glottic control device. Among patients whose APCF without the device was <160L/min, if their APCF with the device was measured as ≥160L/min, they were decannulated. After decannulation, UPCF and APCF were measured again. MAIN OUTCOME MEASURES: APCF with and without an external glottic control device as well as APCF after decannulation. RESULTS: After successful decannulation, APCFs were greater than or equal to those measured with the device before decannulation. No patients underwent intubation or retracheostomy, and there were no respiratory complications. CONCLUSIONS: The external glottic control device substituting for innate glottic function is beneficial for determining tracheostomy decannulation. It provides an objective and accurate APCF. It is particularly helpful for patients whose APCF is ≥160L/min while using the device, even if APCF is <160L/min without this device.

Management of Ventilatory Insufficiency in Neuromuscular Patients Using Mechanical Ventilator Supported by the Korean Government.

Since 2001, financial support has been provided for all patients with neuromuscular disease (NMD) who require ventilatory support due to the paralysis of respiratory muscles in Korea. The purpose of this study was to identify ventilator usage status and appropriateness in these patients. We included 992 subjects with rare and incurable NMD registered for ventilator rental fee support. From 21 February 2011 to 17 January 2013, ventilator usage information, regular follow-up observation, and symptoms of chronic hypoventilation were surveyed by phone. Home visits were conducted for patients judged by an expert medical team to require medical examination. Abnormal ventilatory status was assessed by respiratory evaluation. Chronic respiratory insufficiency symptoms were reported by 169 of 992 subjects (17%), while 565 subjects (57%) did not receive regular respiratory evaluation. Ventilatory status was abnormal in 102 of 343 home-visit subjects (29.7%). Although 556 subjects (56%) reported 24-hour ventilator use, only 458 (46%) had an oxygen saturation monitoring device, and 305 (31%) performed an airstacking exercise. A management system that integrates ventilator usage monitoring, counselling and advice, and home visits for patients who receive ventilator support could improve the efficiency of the ventilator support project.

Postural vital capacity difference with aging in duchenne muscular dystrophy.

INTRODUCTION: A change in vital capacity (VC) from standing to supine can be an index of diaphragm paralysis if it exceeds 25%. We aimed to verify whether the postural VC difference increases with age and reflects diaphragm weakness in DMD. METHODS: VCs were measured in DMD. Postural VC difference and percentage were calculated from the VC data. Maximal inspiratory pressure (MIP) and MIP percentage were measured as an indirect index of diaphragm weakness. RESULTS: A total of 220 patients and 544 measurements were collected. MIP and MIP percentage decreased significantly with age (P < 0.001 for both). Estimated postural VC difference and percentage also decreased (P < 0.001, P = 0.006, respectively). Age group comparisons showed a significant decrease in younger, but not older subjects. CONCLUSIONS: This study shows that the postural VC difference tended to decrease with age and might not reflect diaphragmatic weakness in DMD; however, this should be interpreted cautiously.

In Vivo Reprogramming Using Yamanaka Factors in the CNS: A Scoping Review.

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.

Correlation between voluntary cough and laryngeal cough reflex flows in patients with traumatic brain injury.

OBJECTIVE: To correlate voluntary cough and laryngeal cough reflex (LCR) flows in patients with traumatic brain injury (TBI). DESIGN: Cross-sectional study. SETTING: University rehabilitation hospital. PARTICIPANTS: Patients with TBI (n=25) and healthy controls (n=48). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Peak cough flows (PCFs) and LCR flows were measured using a peak flow meter at the oral-nasal interface. The largest value of 3 attempts was recorded for PCF and LCR, respectively. LCR was elicited by 20% solution of pharmaceutic-grade citric acid dissolved in sterile .15M NaCl solution that was inhaled from a nebulizer. RESULTS: PCF was 447.4 ± 99.0 L/min in the control group and 211.7 ± 58.2 L/min in the patient group. LCR was 209.2 ± 63.8L/min in the control group and 170.0 ± 59.7 L/min in the patient group. Both PCF (P=.000) and LCR (P=.013) were significantly reduced in patients with TBI compared to that of the control group. LCR was strongly related to the PCF in both control (R=.645; P=.000) and patient (R=.711; P=.000) groups. CONCLUSIONS: As LCR can be measured as a numerical value and significantly correlates with PCF, LCR can be used to estimate cough ability of patients with TBI who cannot cooperate with PCF measurement.

Transcriptome analysis of skeletal muscle in dermatomyositis, polymyositis, and dysferlinopathy, using a bioinformatics approach.

Background: Polymyositis (PM) and dermatomyositis (DM) are two distinct subgroups of idiopathic inflammatory myopathies. Dysferlinopathy, caused by a dysferlin gene mutation, usually presents in late adolescence with muscle weakness, degenerative muscle changes are often accompanied by inflammatory infiltrates, often resulting in a misdiagnosis as polymyositis. Objective: To identify differential biological pathways and hub genes related to polymyositis, dermatomyositis and dysferlinopathy using bioinformatics analysis for understanding the pathomechanisms and providing guidance for therapy development. Methods: We analyzed intramuscular ribonucleic acid (RNA) sequencing data from seven dermatomyositis, eight polymyositis, eight dysferlinopathy and five control subjects. Differentially expressed genes (DEGs) were identified by using DESeq2. Enrichment analyses were performed to understand the functions and enriched pathways of DEGs. A protein-protein interaction (PPI) network was constructed, and clarified the gene cluster using the molecular complex detection tool (MCODE) analysis to identify hub genes. Results: A total of 1,048, 179 and 3,807 DEGs were detected in DM, PM and dysferlinopathy, respectively. Enrichment analyses revealed that upregulated DEGs were involved in type 1 interferon (IFN1) signaling pathway in DM, antigen processing and presentation of peptide antigen in PM, and cellular response to stimuli in dysferlinopathy. The PPI network and MCODE cluster identified 23 genes related to type 1 interferon signaling pathway in DM, 4 genes (PDIA3, HLA-C, B2M, and TAP1) related to MHC class 1 formation and quality control in PM, and 7 genes (HSPA9, RPTOR, MTOR, LAMTOR1, LAMTOR5, ATP6V0D1, and ATP6V0B) related to cellular response to stress in dysferliniopathy. Conclusion: Overexpression of genes related to the IFN1 signaling pathway and major histocompatibility complex (MHC) class I formation was identified in DM and PM, respectively. In dysferlinopathy, overexpression of HSPA9 and the mTORC1 signaling pathway genes was detected.

Outcomes of cardiac involvement in patients with late-stage Duchenne muscular dystrophy under management in the pulmonary rehabilitation center of a tertiary referral hospital.

OBJECTIVES: The purpose of this study was to investigate the clinical outcome as well as the sequential changes of cardiac function in late-stage Duchenne muscular dystrophy (DMD) patients by 2-dimensional echocardiography. METHODS: A total of 31 individuals (initial age: 21.6 ± 5.0 years, range: 15-35 years) with late-stage DMD (Swinyard-Deaver's stage 7 or 8) were enrolled. All of these patients had respiratory insufficiency and were on ventilator support. Sequential echocardiographic data were collected over at least 3 years. Repeated measures analysis of variance was used to compare changes in left ventricular ejection fraction (LVEF) over time. RESULTS: The sequential change in the mean LVEF showed no significant differences with initial, 1-, 2-, and 3-year follow-up LVEFs which were 42.2, 42.9, 43.8 and 42.6%, respectively (p = 0.320). In terms of the clinical outcome, all but 1 patient survived during the follow-up period of 46.5 ± 9.1 months. CONCLUSIONS: The cardiac function in late-stage DMD patients showed a stabilization of LVEF on adequate ventilatory support and optimal cardiac medication therapy until their mid-30s. In addition, considering the favorable clinical outcome in our study, the process of cardiac involvement in late-stage DMD may demonstrate that in some patients it is nonprogressive.

Reliability, Quality, and Educational Suitability of TikTok Videos as a Source of Information about Scoliosis Exercises: A Cross-Sectional Study.

This study aimed to systematically assess the informational reliability, quality, and educational suitability of videos introducing scoliosis exercises on TikTok. We retrieved and screened 1904 TikTok videos with the hashtags: "#scoliosis", "#scoliosisexercise", and "#scoliosistips", before collecting a final sample of 171 scoliosis exercises in March 2022. Then, two independent raters assessed the reliability and quality of the videos using the DISCERN instrument and evaluated the educational suitability of the information using "Scoliosis Exercise Education Score" (SEES; exercise cycle, target, effect, precaution, and rationale). None of the videos were rated as excellent or good according to DISCERN. The mean SEES score was 2.02 out of 5. Videos uploaded by health organizations had significantly lower DISCERN and SEES scores than those by general users and healthcare professionals. Regarding the propriety of physiotherapeutic scoliosis-specific exercises (PSSE), DISCERN and SEES scores were significantly higher in the PSSE proper group than in the PSSE non-proper group. Although TikTok has become a popular source of scoliosis-related information, the overall information quality, reliability, and educational suitability of videos on scoliosis exercises in TikTok appear to be low, suggesting that TikTok is not suitable source for obtaining scoliosis exercise information.

Standardization of Air Stacking as Lung Expansion Therapy for Patients With Restrictive Lung Disease: A Pilot Study.

OBJECTIVE: Although air stacking is a widely used lung expansion therapy essential for restrictive lung diseases, important details such as peak insufflation pressure (PIP) 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 individuals who had neuromuscular disorders and had performed air stacking exercise for longer than 1 year. PIP 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 participants were included. PIP 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 PIP 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. IMPACT: Optimal pressure of air stacking can be measured with inexpensive, simple, and commercially available digital manometry. This approach enables air stacking to be performed and taught more accurately and efficiently and reduces complications in both patients and caregivers.

Clinical Implications of Routine Monitoring of Pulmonary Function and Ventilation in Patients with Duchenne Muscular Dystrophy.

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.

The association between cardiac involvement and long-term clinical outcomes in patients with Duchenne muscular dystrophy.

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.

Effects of constraint-induced movement therapy on neurogenesis and functional recovery after early hypoxic-ischemic injury in mice.

AIM: Constraint-induced movement therapy (CIMT) has emerged as a promising therapeutic strategy for improving affected upper limb function in children with hemiplegic cerebral palsy (CP). However, little is known about the changes in the brain that are induced by CIMT. This study was designed to investigate these changes and behavioural performance after CIMT intervention in mice with neonatal hypoxic-ischemic brain injury. METHOD: We utilized the neonatal hypoxic-ischemic brain injury model established in mice pups. Three weeks after the injury, the mice were randomly assigned to the following three groups: the control group (n = 15), the enriched-environment group (n = 17), and the CIMT with an enriched-environment group (CIMT-EE, n = 15). 5-bromo-2-deoxyuridine (BrdU) was injected daily to label proliferating cells during the 2 weeks of intervention. RESULTS: The CIMT-EE group showed better fall rate in the horizontal ladder rung walking test (mean 5.4%, SD 3.6%) than either the control (mean 14.3%, SD 7.3%; p = 0.001) or enriched-environment (mean 12.4%, SD 7.7%; p = 0.010) groups 2 weeks after the end of intervention. The CIMT-EE group also showed more neurogenesis (mean 7069 cells/mm³, SD 4017 cells/mm³) than either the control group (mean 1555 cells/mm³, SD 1422 cells/mm³; p < 0.001) or enriched-environment group (mean 2994 cells/mm³, SD 3498 cells/mm³; p = 0.001) in the subventricular zone. In the striatum, neurogenesis in the CIMT-EE group (mean 534 cells/mm³, SD 441 cells/mm³) was greater than in the control group (mean 95 cells/mm³, SD 133 cells/mm³; p = 0.001). INTERPRETATION: There was CIMT-EE enhanced neurogenesis in the brain along with functional benefits in mice after early hypoxic-ischemic brain injury. This is the first study to demonstrate the effects of CIMT on neurogenesis and functional recovery after experimental injury to an immature brain.

Clinical Course of Amyotrophic Lateral Sclerosis according to Initial Symptoms: An Analysis of 500 Cases.

PURPOSE: One obstacle in early diagnosis of amyotrophic lateral sclerosis (ALS) is its vague initial presentation, which is generally classified into limb- and bulbar-dominant types and may be mistaken for other musculoskeletal conditions. We analyzed clinical data from patients in relation to their initial presentation and prognosis from symptom onset to diagnosis. MATERIALS AND METHODS: We retrospectively analyzed the medical records of patients with ALS who were admitted for pulmonary rehabilitation between January 2007 and December 2019. We collected data on time of onset, initial presenting symptoms, unnecessary operations due to misdiagnosis, and the time between symptom onset and final diagnosis of ALS. RESULTS: Among 500 patients, unnecessary operations were performed in 43 patients. The median durations between symptom onset and ALS diagnosis for patients with and without operations were 11 and 9 months, respectively (p=0.008). 67.0%, 28.8%, and 4.2% of the patients presented with limb-, bulbar-, and respiratory-dominant symptoms, respectively, as initial presentations. The median ages at symptom onset were significantly different for limb-, bulbar-, and respiratory-dominant onset (57.5, 60.6, and 66.7 years, respectively; p<0.001). Compared to the other two types, patients with the respiratory-dominant onset were all male and showed higher rate of emergent endotracheal intubation before ALS diagnosis. CONCLUSION: Inappropriate operations significantly delayed the diagnosis of ALS. Respiratory difficulty can account for a significant proportion among initial presentations in ALS. Compared to limb- and bulbar-dominant types, respiratory-dominant onset appears to show male predominance, older age at symptom onset, and poor respiratory prognosis.

Correlation of Bone Mineral Density with Pulmonary Function in Advanced Duchenne Muscular Dystrophy.

BACKGROUND: A relationship between bone mineral density (BMD) and physical function has been revealed in the general population and various diseases. However, there is a lack of research investigating the correlation between BMD and respiratory function, one of few measurable physical parameters in patients with advanced Duchenne muscular dystrophy (DMD). OBJECTIVE: To determine whether pulmonary function parameters, including respiratory muscle strength, are related to BMD. DESIGN: Retrospective observational study. SETTING: A tertiary university hospital. PATIENTS: DMD patients who were over 20 years of age, nonambulatory, and supported by mechanical ventilators. METHODS: The patients' age, weight, and pulmonary function as well as the BMD of the first and the fourth lumbar vertebra were assessed. Pulmonary function includes forced vital capacity (FVC), unassisted and assisted peak cough flow (UPCF and APCF), maximal expiratory pressure (MEP), and maximal inspiratory pressure (MIP). MAIN OUTCOME MEASURES: A bivariate correlation for BMD and other pulmonary parameters was calculated, and hierarchical regression analysis was used to determine predictors of spine Z-score. RESULTS: It was observed that the decrease in the spine BMD was not significantly correlated with age. However, the body mass index (BMI) and all parameters of pulmonary function were correlated with BMD. Partial correlation analysis adjusted by BMI showed that UPCF and APCF were powerful predictors of spine BMD. CONCLUSIONS: The BMD of the lumbar spine correlated with BMI and PCF in patients with DMD at an advanced stage.

Analysis of Pneumothorax in Noninvasive Ventilator Users With Duchenne Muscular Dystrophy.

BACKGROUND: With the advancement of cardiorespiratory interventions, the survival rate among patients with Duchenne muscular dystrophy (DMD) has increased. Subsequently, pneumothorax has become a significant problem in patients with prolonged ventilatory support. RESEARCH QUESTION: What are the frequency, recurrence rate, risk factors, and prognosis of pneumothorax in patients with DMD requiring noninvasive ventilation (NIV)? Also, are there known risk factors of pneumothorax on chest CT scans? STUDY DESIGN AND METHODS: This retrospective longitudinal cohort study included 176 patients treated between 2006 and 2019. We collected information regarding location, severity, treatment methods, recurrence frequency, abnormal findings on CT scanning, and date of death. We compared the pneumothorax and nonpneumothorax groups. We calculated the estimated survival probabilities from the age at NIV application according to pneumothorax occurrence. RESULTS: Sixteen of the 176 patients (9.0%) experienced pneumothorax (median age at diagnosis, 24.6 years; range, 20.7-33.7 years). Among the 16 patients, 15 demonstrated pneumothorax after NIV application (median time between diagnosis and initial NIV application, 5.6 years; range, 3 days-9.6 years). Sixteen patients experienced 31 episodes of pneumothoraces (range, one-five episodes); among them, seven episodes (22.6%) were asymptomatic. Known risk factors not clearly visible by radiography scans were found in chest CT scan in 11 patients (68.8%). Seven of 16 patients (43.8%) eventually sustained severe lung damage with pulmonary fibrosis. No significant between-group differences were found in body weight, BMI, and age at NIV application; however, the pneumothorax group showed a significantly higher mortality rate after NIV application. INTERPRETATION: On pneumothorax occurrence in patients with DMD, recurrences and severe lung damage are common; moreover, these patients show higher mortality rates than patients without pneumothorax. Chest CT scans should be performed to identify risk factors, and treatment should be initiated accordingly. In addition, physicians should consider chest CT scanning in the case of suspected pneumothorax, even if no radiographic abnormality is found.

Safety of Gastrostomy Tube Placement in Patients with Advanced Amyotrophic Lateral Sclerosis With Noninvasive Ventilation.

BACKGROUND: In patients with amyotrophic lateral sclerosis (ALS), bulbar muscle dysfunction can occur, which eventually requires the initiation of enteral tube feeding. However, there is no consensus on the optimal timing for the gastrostomy or the proper ventilator support method during the procedure. We aimed to investigate the safe range of gastrostomy according to respiratory support status and forced vital capacity (FVC) % of predicted values classification and to compare the safety of noninvasive and invasive mechanical ventilation during the procedure in ALS patients with FVC < 30% of predicted. METHODS: A total of 477 patients diagnosed with ALS at our institution from January 1, 2009, to December 31, 2018, were evaluated, and 105 patients were enrolled in this study. All medical records covering ventilation status and complications within 6 months to 1 year after the initial gastrostomy were gathered and reviewed. RESULTS: The gastrostomy procedure was considered safe regardless of FVC status or modality of respiratory support. There were complications related to the gastrostomy procedure in 6 of 105 patients and all were managed through conservative care. The incidence of complications, including respiratory ones, for noninvasive and invasive positive pressure ventilation was 5.5% and 9.6%, respectively, which were not statistically significantly different (P = .294). CONCLUSION: The procedure and tube placement of a gastrostomy can be safely performed in ALS patients with minimal FVC regardless of ventilation invasiveness. We suggest that there should be a new standard for FVC % of predicted to facilitate performing gastrostomy in ALS patients.

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

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.

Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency.

Freeman-Sheldon syndrome (FSS) is a rare distal arthrogryposis syndrome. There are few reports on the respiratory insufficiency of FSS. Additionally, there is no detailed information on pulmonary functional evaluation. A 17-year-old male patient with FSS developed respiratory failure, leading him to be admitted to hospital several times for evaluation and treatment. Of those times he was admitted, two were due to pneumonia. His pulmonary functions were indicative of a restrictive lung disease potentially caused by severe scoliosis. After a non-invasive ventilatorwas applied correctly to the patient, pulmonary hypertension was normalized. His pulmonary function has been maintained for 13 years. Since receiving proper respiratory care, which includes assisted coughing methods, the patient has not developed pneumonia. It is important to properly evaluate the pulmonary function of patients who have FSS and scoliosis to eliminate the risk of long-term respiratory complications.