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.

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.

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.

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.

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.

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.

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.

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.

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.

Environmental Enrichment Attenuates Oxidative Stress and Alters Detoxifying Enzymes in an A53T α-Synuclein Transgenic Mouse Model of Parkinson's Disease.

Although environmental enrichment (EE) is known to reduce oxidative stress in Parkinson's disease (PD), the metabolic alternations for detoxifying endogenous and xenobiotic compounds according to various brain regions are not fully elucidated yet. This study aimed to further understand the role of EE on detoxifying enzymes, especially those participating in phase I of metabolism, by investigating the levels of enzymes in various brain regions such as the olfactory bulb, brain stem, frontal cortex, and striatum. Eight-month-old transgenic PD mice with the overexpression of human A53T α-synuclein and wild-type mice were randomly allocated to either standard cage condition or EE for 2 months. At 10 months of age, the expression of detoxifying enzymes was evaluated and compared with wild-type of the same age raised in standard cages. EE improved neurobehavioral outcomes such as olfactory and motor function in PD mice. EE-treated mice showed that oxidative stress was attenuated in the olfactory bulb, brain stem, and frontal cortex. EE also reduced apoptosis and induced cell proliferation in the subventricular zone of PD mice. The overexpression of detoxifying enzymes was observed in the olfactory bulb and brain stem of PD mice, which was ameliorated by EE. These findings were not apparent in the other experimental regions. These results suggest the stage of PD pathogenesis may differ according to brain region, and that EE has a protective effect on the PD pathogenesis by decreasing oxidative stress.

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.

Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients.

BACKGROUND: Duchenne muscular dystrophy (DMD) patients can have various issues that affect their quality of life, including eating and digestive conditions. OBJECTIVE: We sought to identify the relationship between respiratory function and various eating and digestion related symptoms in patients with advanced Duchenne muscular dystrophy (DMD). METHODS: Eating and digestive symptoms, including loss of appetite, nausea, vomiting, diarrhea, constipation, swallowing difficulty, mastication difficulty, early satiety, and aspiration, were evaluated among patients with advanced DMD who were nonambulatory and required noninvasive mechanical ventilatory support. In addition, various respiratory function parameters were measured, including forced vital capacity (FVC), maximal insufflation capacity (MIC), peak cough flow (PCF), assisted PCF (APCF), maximal inspiratory pressure (MIP), and maximal expiratory pressure (MEP). We then analyzed the relationship between gastrointestinal symptoms and respiratory function parameters. RESULTS: A total of 180 patients (age, 22.3±5.0 years) were included in the analysis. Loss of appetite and early satiety showed no correlation with any of the respiratory function parameters. Constipation was correlated with MEP; swallowing difficulty was correlated with MIC, APCF, MIP and MEP; and mastication difficulty was correlated with FVC, PCF, APCF, MIP, and MEP. Notably, age did not correlate with any gastrointestinal symptoms. CONCLUSIONS: Eating and digestive symptoms are more closely correlated with respiratory function than with age in patients with DMD. We think this correlation is mainly caused by the skeletal muscle strength, which is major determinant of both digestive and respiratory function.

Clinical implication of maximal voluntary ventilation in myotonic muscular dystrophy.

Patients with myotonic muscular dystrophy type 1 (DM1) tend to exhibit earlier respiratory insufficiency than patients with other neuromuscular diseases at similar or higher forced vital capacity (FVC). This study aimed to analyze several pulmonary function parameters to determine which factor contributes the most to early hypercapnia in patients with DM1.We analyzed ventilation status monitoring, pulmonary function tests (including FVC, maximal voluntary ventilation [MVV], and maximal inspiratory and expiratory pressure), and polysomnography in subjects with DM1 who were admitted to a single university hospital. The correlation of each parameter with hypercapnia was determined. Subgroup analysis was also performed by dividing the subjects into 2 subgroups according to usage of mechanical ventilation.Final analysis included 50 patients with a mean age of 42.9 years (standard deviation = 11.1), 46.0% of whom were male. The hypercapnia was negatively correlated with MVV, FVC, forced expiratory volume in 1 second (FEV1), and their ratios to predicted values in subjects with myotonic muscular dystrophy type 1. At the same partial pressure of carbon dioxide, the ratio to the predicted value was lowest for MVV, then FEV1, followed by FVC. Moreover, the P values for differences in MVV and its ratio to the predicted value between ventilator users and nonusers were the lowest.When screening ventilation failure in patients with DM1, MVV should be considered alongside other routinely measured parameters.

Remarkable improvement in a very severe chronic obstructive pulmonary disorder patient after use of noninvasive intermittent positive pressure ventilator: A case report.

RATIONAL: Chronic obstructive pulmonary disease (COPD) impairs lung function and induces systemic effects, resulting in impaired quality of life. Skeletal muscle dysfunction-characteristic of advanced COPD patients-limits a patient's ability to perform activities of daily living (ADL). In addition, dysphagia is commonly observed in COPD patients. PATIENT CONCERN: This case report documents a 42-year-old man with very severe COPD. He experienced aggravation of the symptoms during standard medical treatment and his ability to perform the ADL was significantly impaired. Furthermore, his dysphagia worsened despite oromotor training. DIAGNOSIS: He was diagnosed as very severe COPD have a problem with swallowing and respiratory function. INTERVENTION: Upon NIPPV treatment, the patient's ability to perform the ADL, as well as his dysphagia, showed improvement. OUTCOMES: Thus, we report the remarkable improvement of physical function, as well as dysphagia, in a very severe COPD patient after NIPPV treatment. LESSONS: NIPPV may be useful as a treatment option for such patients.