Noninvasive Ventilatory Support in a Patient with Bilateral Phrenic Nerve Palsy: A Case Report

Bilateral phrenic nerve palsy after open cardiac surgery is an extremely rare complication, but serious enough to induce respiratory failure or cardiac arrest. We report a 76-year-old male patient presented weaning difficulty after elective aortic valve replacement and thymic resection under hypothermic cardiopulmonary bypass. Bilateral phrenic nerve palsy was diagnosed through chest radiograph and electrophysiological studies of the diaphragm. After receiving tracheostomy, invasive intermittent positive-pressure ventilation (IPPV) was applied to him at intensive care unit. He was referred to our hospital because of weaning difficulty which lasted for 6 months after the surgery. He received extensive pulmonary rehabilitation which includes non-invasive positive-pressure ventilation (NIPPV), and then he finally succeeded in weaning from ventilator after 8 months. Applying NIPPV to patients with bilateral phrenic nerve palsy could minimize the duration of IPPV, reduce its disadvantages, and facilitate weaning of artificial ventilation.

A Research on the Management of Ventilatory Insufficiency in Patients with Neuromuscular Diseases

OBJECTIVE: To investigate the real condition of pulmonary rehabilitation for patients with advanced neuromuscular diseases (NMDs) on mechanical ventilation in Korea. METHOD: In order to estimate current state of pulmonary rehabilitative management, chart review and pulmonary function evaluation were conducted in a total of 267 NMD patients who had applied mechanical home ventilator in our center from March 2001 to December 2008. RESULTS: Total 267 patients were included: 95 with Duchenne muscular dystrophy, 69 with other types of myopathy, 83 with amyotrophic lateral sclerosis (ALS), 20 with spinal muscular atrophy. Among them, 18 who were previously intubated and 17 patients who had undergone tracheostomy were switched into volume-limited non-invasive ventilation (NIV). At the time of hospital discharge, 234 patients were applied NIV successfully. Twenty other patients who once used continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) ventilators inappropriately were switched into volume-limited NIV. However, 20 patients who had successfully applied NIV first underwent tracheostomy due to exacerbation of underlying disease. CONCLUSION: Adequate pulmonary management is the only promising method to prevent lethal complications, and to prolong life span of advanced NMD patients. We assume that more NMD patients can improve their quality of life and prolong their life through proper pulmonary rehabilitation including regular pulmonary function check-ups and ventilatory state monitoring as well as early NIV application.

Quality of life for primary caregivers of muscular dystrophy patients in South Korea / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Although some studies measured the burden of caregivers and the factors that influenced their feelings of burden, few studies have measured the quality of life (QOL) for primary caregivers of patients with muscular dystrophy (MD). We assessed the QOL for primary caregivers of patients with MD in South Korea and identified factors associated with caregivers' QOL.</p><p><b>METHODS</b>Ninety dyads of patients with MD and their primary caregivers were enrolled in this study. The QOL of caregivers of patients with MD was assessed subjectively using the World Health Organization Quality of Life Assessment, Life Brief Form. Caregivers' emotional status was assessed using the Beck Depression Inventory (BDI) and family function level was evaluated using the Family APGAR scale. Patients reported their emotional status using the BDI or the Children's Depression Inventory. The functional levels of patients were evaluated by the modified Barthel Index.</p><p><b>RESULTS</b>Caregivers' QOL was statistically associated with family income, family function, emotional status of patients, level of education, and emotional status of caregivers (P < 0.05). Caregivers who were employed had a significantly higher QOL than those who were not (P < 0.05). In multiple regression analyses, emotional and employment status of caregivers was strongly associated with caregivers' QOL.</p><p><b>CONCLUSION</b>Rehabilitation teams should consider not only the physical factors of patients but also the psychological and demographic factors of primary caregivers of patients with MD.</p>

The Educational and Vocational Status of Muscular Dystrophy Patients

OBJECTIVE: To investigate the current condition of education and vocation of patients with muscular dystrophy in Korea and to identify the factors determining their educational and vocational status. METHOD: This study included 129 patients with muscular dystrophy. Functional level of patients was evaluated by modified Barthel index (MBI). The current condition of education and vocation of patients was evaluated by self reports. The mean age of the patients was 23.5 years and 84.5% were men. RESULTS: Education duration of patients was 11.8 years, similar to that of general Korean population. University graduation rate of patients was 29.8%, which is higher than average rate of general Korean population. The unemployment rate of patients was 77.4%, which is much higher than average rate of general Korean population. Education duration was correlated with the onset age of disease symptom and with the functional level at the end of education period. The vocational status was related with education duration and functional level. The factor which influenced most negatively on maintaining education and vocation was physical limitation. CONCLUSION: For muscular dystrophy patients with physical limitation, equal opportunities and environment for exercising their ability should be secured with the specific policies and regulations, which consider their physical disabilities and interconnect educational field with vocational field.

A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy: A case report

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular atrophy have been identified and named as survivor motor neuron (SMN) and neuronal apoptosis inhibitory protein genes. The clinical symptoms, courses and evaluation findings of proximal SMA type III are similar to those of distal SMA and proximal muscle myopathies such as limb gir-dle muscular dystrophy and fascioscapulohumeral muscular dystrophy. It cannot be diagnosed with muscle biopsy and electromyographic findings exclusively. In our case, the patient showed similar clinical manifestations of distal SMA. So we couldn't diagnose this case as SMA type III until we detected SMN 1 gene deletion. This case could be a good model for diagnostic approach to SMA type III and differential diagnosis to similar diseases.

The Subjective and Objective Evaluations of Autonomic Nervous System Function in Stroke Patients

OBJECTIVE: To evaluate autonomic function in stroke patients and to explore the relationship between patient's subjective symptoms and the results of objective tests regarding autonomic dysfunction. METHOD: Twenty stroke patients and 27 controls were recruited. Autonomic function was accessed by subjective checklist and by objective tests such as sympathetic skin response (SSR) and blood pressure (BP) response to positional change and to sustained hand-grip. Motor function was classified using the Brunnstrom stages: Group 1, stage 1 and 2; Group 2, stage 3 and 4; Group 3, stage 5 and 6. RESULTS: Seventy percent of patients had subjective changes in autonomic function after stroke. 50% and 65.5% of patients revealed autonomic insufficiency by BP responsetests and SSR, respectively. More than half of the patients who didn't have any subjective changes in autonomic function revealed autonomic insufficiency by objective tests. Group 1 of Brunnstrom stage in upper extremity showed significantly longer SSR latencies (p<0.05) and lower amplitudes than the controls (p<0.05). Group 1 and 2 of Brunnstrom stage in lower extremity showed significantly longer SSR latencies (p<0.05) and lower amplitudes than the controls (p<0.05). CONCLUSION: Although stroke patients don't complain any subjective symptoms of autonomic dysfunction, they need to undergo objective autonomic function evaluations such as SSR and BP responses.

Follow up Survey of Non-invasive Intermittent Positive Pressure Ventilatory Support in Patients with Neuromuscular Diseases

OBJECTIVE: To report an overall survey of the application state of non-invasive intermittent positive pressure ventilator (NIPPV) in patients with neuromuscular diseases who were managed successfully in this hospital. METHOD: To estimate current state of NIPPV application, chart review and telephone survey were performed in neuromuscular patients who applied NIPPV successfully from March 2001 to January 2006 in this hospital. RESULTS: Among 161 patients who once tried NIPPV, 100 patients applied NIPPV successfully. The composition was 66 patients with myopathy, 20 patients with amyotrophic lateral scoliosis, 6 patients with spinal muscular atrophy, 3 patients with cervical cord injury, and 5 patients with other neuromuscular diseases. Among them, 12 patients who had undertaken tracheostomy were switched into NIPPV, however 3 ALS paients who had first applied NIPPV successfully were taken tracheostomy later. CONCLUSION: NIPPV is an equally effective and safe tool for ventilatory support, which can be used as an alternative method of invasive ventilatory support for patients with advanced neuromuscular diseases. We assume that more neuromuscular patients can improve their quality of life, and prolong their life span through application of NIPPV.

The Diasgnostic Usefulness of Mean F-wave Latency in Diabetic Polyneuropathy

OBJECTIVE: To investigate whether mean F-wave latency is a useful electrodiagnostic test in diabetic patients. METHOD: We examined the diagnostic usefulness of mean F-wave latency, motor nerve conduction velocity (MCV), and amplitude of compound motor nerve action potential (CMAP) of the tibial and peroneal nerves, and of sensory nerve action potential (SNAP) amplitude of the sural nerve in 51 diabetic patients. RESULTS: For the tibial and peroneal nerves, the Z-scores of the mean F-wave latency were significantly larger than those of the MCV and of the amplitude of the CMAP. CONCLUSION: Mean F-wave latency is a sensitive measure for the detection of diabetic polyneuropathy and should be included in electrophysiological studies of diabetic patients.

Analysis of Interference Pattern of Quantitative Electromyography in Early Adolescence

OBJECTIVE: To establish turns-amplitude, activity-envelope amplitude and activity-number of small segements (NSS) clouds of normal early teens using interference pattern. METHOD: Forty four healthy early adolescence from 11 to 15 years old participated in this study. The interference patterns were analyzed using quantitative electromyography of the biceps brachi and tibialis anterior muscles. The interference patterns were measured at 3 to 5 different force levels ranging from minimum to maximum and turns, mean amplitude, activity, envelope amplitude, NSS were analyzed. By turns/amplitude, activity/envelope amplitude and activity/ NSS ratio, normal clouds of gender related each parameters were obtained. RESULTS: The turns-amplitude, activity-envelope amplitude and activity-NSS ratio of the biceps brachii and tibialis anterior muscles were obtained. Normal clouds of gender related turns-amplitude, activity-envelope amplitude and activity-NSS for each muslces were established. CONCLUSION: By using normal cloud patterns of turns- amplitude, activity-envelope amplitude and activity-NSS, automatic interference pattern analysis may contribute to diagnose neuromuscular disease in early adolescent patients.

Clinical Implication of Air Stacking Exercise in Patients with Neuromuscular Diseases

OBJECTIVE: To evaluate the effect of the air stacking exercise on maximal insufflation capacity (MIC) and peak cough flow (PCF) in patients with neuromuscular diseases. METHOD: Two hundred twenty nine neuromuscular patients with vital capacity (VC) below 50% of the predicted normal value were initially evaluated for VC, MIC, PCF, and assisted PCF (APCF). After the first evaluation, these patients were instructed to carry out air stacking exercise periodically, and were re-evaluated after one year. RESULTS: Forty seven patients were capable of performing air stacking exercise on regular basis, at least twice a day for one year. Among these patients, MIC increased in 28 patients from 1345.4 ml to 1572.9 ml on average (p<0.05), while it decreased in 19 patients from 1740.0 ml to 1325.3 ml on average (p<0.05). In the increasing MIC group APCF increased from 244.6 L/min to 278.1 L/min (p<0.05). In the decreasing MIC group, every value decreased significantly. CONCLUSION: Air stacking exercise was shown to be capable of increasing MIC and APCF despite the reduction in VC and PCF in patients with neuromuscular diseases.

Establishment of Clouds of Envelope Amplitude-Activity and Number of Small Segments-Activity in Normal Adults

OBJECTIVE: To establish the envelope amplitude-activity and number of small segments (NSS)-activity clouds of normal adults using the interference pattern of quantitative electromyography (EMG). METHOD: Healthy adults whose ages were from 20 to 59 years old participated in this study. Using quantitative EMG of the biceps brachii, vastus medialis, and tibialis anterior muscle, the interference patterns were analyzed. The interference patterns were measured at three to five different force levels, ranging from minimum to maximum, and recorded at least 20 epochs at each muscle. RESULTS: The envelope amplitude-activity and NSS-activity ratio of the biceps brachii, vastus medialis, and tibialis anterior muscles were obtained in males and females. The establishment of normal clouds of gender related envelope amplitude-activity and NSS-activity were obtained. CONCLUSION: By using the above normal clouds of envelope amplitude-activity and NSS-activity, automatic interference pattern analysis may contribute to early diagnosis and detection of progress of myopathy and neuropathy.

Cognition Associated with Dystrophin Deletion in Duchenne Muscular Dystrophy

OBJECTIVE: To find correlations between the deletion of dystrophin gene and cognitive status in Duchenne muscular dystrophy (DMD). METHOD: Cognitive abilities of 49 DMD children with dystrophin deletion were tested. Korean Wechsler Intelligence Scale for children was used to evaluate the cognitive status in DMD. Gene deletion was classified into two groups according to the location of the rearrangement (proximal region: central and 3' region of the gene). RESULTS: Molecular study by multiplex PCR (Polymerase Chain Reaction) of dystrophin exons was performed to identify 49 deletions in the 110 DMD patients. 13 out of 49 DMD were mentally impaired. In patients with distal deletions, total IQ (Intelligence Quotient) score was lower than the those with proximal deletions; which was not statistically significant. And the difference of the verbal and performance intelligence scale was not statistically significant. But comparisons of molecular and neuropsychological features showed that deletions localized in the central and 3' regions of the gene were preferentially associated with the mental impairement. CONCLUSION: We concluded that deletions in the distal portions of the gene were more related to the mental retardation, although deletions with variable locations might lead to cognitive impairments.

Follow-up Magnetic Resonance Imaging Study of Patients with Herniated Cervical Intervertebral Disc

OBJECTIVE: To clarify the relationship between the morphologic changes of and the clinical course of conservatively treated herniated cervical disc patients METHOD: Follow-up magnetic resonance imaging (MRI) and clinical assessment by the visual analogue scale were performed in 21 patients at a mean interval of 22.7 months. RESULTS: An average reduction ratio of herniation on the sagittal and axial images were 11.65% and 19.5%, respectively. The clinical features improved significantly and the degree of clinical improvement was unrelated to the reduction ratio of herniation. CONCLUSION: 8 out of 21 (38.09%) showed reduction of herniated mass on follow up MRI after conservative treatment. The patients with extruded and sequestered disc herniation showed more morphologic changes on MRI. There was no correlation between the clinical state and the morphological change of herniated cervical disc.

Change in Forced Vital Capacity with Postures according to Neuromuscular Disease

OBJECTIVE: To evaluate the difference in forced vital capacity (FVC) between sitting and supine position in patients with amyotrophic lateral sclerosis (ALS), cervical spinal cord injury (SCI) and Duchenne muscular dystrophy (DMD). METHOD: FVC was measured in sitting and supine position for 32 patients with DMD, 32 patients with cervical SCI and for 28 patients with ALS. The highest value in three or more attempts in each position was chosen. RESULTS: FVCs measured in cervical SCI and ALS patients in the sitting and supine position were 1612.8+/-291.0 ml, 1393.2+/-286.7 ml and 2054.7+/-545.8 ml, 1104.3+/-425.4 ml respectively. Cervical SCI patients showed significantly higher value in the supine position (p<0.05). And ALS patients showed significantly higher value in the sitting position (p<0.05). FVCs measured in DMD patients were 1311.6+/-260.7 ml and 1213.8+/-378.9 ml respectively. There was no statistically significant difference between the measurements in both positions. CONCLUSION: Difference in postural change of FVC was observed in patients with different types of neuromuscular disorders. Such difference in FVC suggest that postural change of FVC should be considered in management of neuromuscular disease with respiratory muscle weakness.

A Comparative Study of Magnetic-Activated Cell Sorting, Cytotoxicity and Preplating for the Purification of Human Myoblasts

Although cultured myoblast transplantation has been extensively studied as a gene complementation approach to muscular dystrophy treatment, clinical success has still been limited. The inability to adequately isolate and purify myoblasts presents a major limitation to the production of sufficient myoblasts for engrafting purposes. This study attempted to purify myoblasts from primary culture by magnetic-activated cell sorting (MACS), complement-mediated cytotoxicity, and a preplating technique. As a result of positive myoblasts selection by MACS, the average percentage of myoblasts in mixed culture was increased from 30.0% to 41.7%. We observed both myoblast lysis and fibroblast lysis after complement-mediated cytotoxicity. Enrichment of myoblasts in mixed culture was found to increase to 83.1% by using the preplating technique. In addition, higher purification (92.8%) was achieved by following the preplating technique with MACS. Thus, preplating in combination with magnetic-activated cell sorting allows for a rapid and effective isolation of myoblasts from human muscle tissue.

Respiratory Muscle Strength and Cough Capacity in Patients with Duchenne Muscular Dystrophy

The function of inspiratory muscles is crucial for effective cough as well as expiratory muscles in patients with Duchenne muscular dystrophy (DMD). However, there is no report on the correlation between cough and inspiratory muscle strength. To investigate the relationships of voluntary cough capacity, assisted cough techniques, and inspiratory muscle strength as well as expiratory muscle strength in patients with DMD (n=32). The vital capacity (VC), maximum insufflation capacity (MIC), maximal inspiratory pressure (MIP), and maximal expiratory pressure (MEP) were measured. Unassisted peak cough flow (UPCF) and three different techniques of assisted PCF were evaluated. The mean value of MICs (1918 +/- 586 mL) was higher than that of VCs (1474 +/- 632 mL) (p < 0.001). All three assisted cough methods showed significantly higher value than unassisted method (212 +/- 52 L/min) (F = 66.13, p < 0.001). Combined assisted cough technique (both manual and volume assisted PCF; 286 +/- 41 L/min) significantly exceeded manual assisted PCF (MPCF; 246 +/- 49 L/ min) and volume assisted PCF (VPCF; 252 +/- 45 L/min) (F = 66.13, p < 0.001). MIP (34 +/- 13 cmH2O) correlated significantly with both UPCF and all three assisted PCFs as well as MEP (27 +/- 10 cmH2O) (p < 0.001). Both MEP and MIP, which are the markers of respiratory muscle weakness, should be taken into account in the study of cough effectiveness.

Assisted Cough and Pulmonary Compliance in Patients with Duchenne Muscular Dystrophy

The aim of this study was to investigate the factors affecting cough ability, and to compare the assisted cough methods in patients with Duchenne muscular dystrophy (DMD). A total seventy-one male patients with DMD were included in the study. The vital capacity (VC) and maximum insufflation capacity (MIC) were measured. The unassisted peak cough flow (UPCF) and three different techniques of assisted peak cough flow were evaluated. UPCF measurements were possible for all 71 subjects. But when performing the three different assisted cough techniques, peak cough flows (PCFs) could be obtained from only 51 subjects. The mean value of MICs (1801+/-780cc) was higher than that of VCs (1502+/-765cc) (p< 0.01). All three assisted cough methods showed a significantly higher value than the unassisted method (F=80.92, p< 0.01). The manual assisted PCF under MIC (MPCFmic) significantly exceeded those produced by manual assisted PCF (MPCF) or PCF under MIC (PCFmic). The positive correlation between the MIC, VC difference (MIC-VC), and the difference between PCFmic and UPCF (PCFmic-UPCF) was seen (r= 0.572, p< 0.01). The preservation of pulmonary compliance is important for the development of an effective cough as well as assisting the compression and expulsive phases. Thus, the clinical importance of the inspiratory phase and pulmonary compliance in assisting a cough should be emphasized.

Change in Epidemiologic Characteristics of the Patients with Neck and Back Pain

OBJECTIVE: The purpose of this study was to investigate the associated symptom aggravating factors and epidemiologic characteristics in patients with neck and back pain. METHOD: The demographic characteristics and the total number of patients who visited the Department of Rehabilitation Medicine, Yong-dong Severance Hospital for the management of neck and back pain were evaluated. A total of 2800 patients sampled from this group of patients and the possible influential factors such as symptom aggravating factors were evaluated. The back school attendants were analyzed for the effectiveness of education on prevention and management of neck and back pain. RESULTS: The most common age group with neck and back pain were 5th decade (21.4%) and 6th decade (24.8%). The proportion of patients in acute stage were increased yearly. Of the aggravating factors, sports injury, driving and weight gain increased annually. In patients with neck pain, aggravation by typing and computer work was remarkable. The patients with desk type of job were increased each year and the patients in teenage group were also increased annually. CONCLUSION: Understanding of the current epidemiologic characteristics and the influential factors will be helpful for providing objective standards for assessment, management and preventioin of neck and back pain.

Relation of Radiographic Parameters and Psychosocial Condition in Idiopathic Adolescent Scoliosis

OBJECTIVE: To determine the relation of Radiographic Scoring System and Scoliosis Research Society-22 (SRS-22), a revised form of health-related quality-of-life (HRQL) questionnaire in idiopathic adolescent scoliosis patients. METHOD: A patient group was made up of 41 adolescents who were diagnosed as idiopathic scoliosis. A control group of 17 persons with Cobb's angle <10degrees was established. To evaluate psychosocial condition, SRS-22 was used to collect the data on both patient and control group. Roentgenographic study was conducted to obtain the Radiographic Deformity Score and evaluate the curve pattern. RESULTS: Pain, self image/appearance, mental health and total score of SRS domains were found to be significantly different between patient and control group (p<0.05). Radiog raphic Deformity Score was positively correlated with pain and self image of SRS domains (p<0.05). However, the pattern of curve was found to be not correlated with SRS score. CONCLUSION: We could evaluate a psychologic condition of idiopathic adolescent scoliosis using Scoliosis Research Society-22 (SRS-22) health-related quality-of-life (HRQL) questionnaire. The more severe spinal deformity, it had the more negative influence on psychologic conditions in idiopathic adolescent scoliosis patients. Therefore, the clinician who is managing idiopathic adolescent scoliosis patients should consider their psychosocial conditions.

The Evaluation of Cardiac Function in Duchenne Muscular Dystrophy

OBJECTIVE: To evaluate the cardiac function and to explore the importance of the evaluation of cardiac function in patients with Duchenne muscular dystrophy (DMD). METHOD: Thirty-nine patients with DMD without any symptoms of heart problems underwent physical examinations and cardiac monitoring including the arterial carbon dioxide (CO2) screening. Thirty one patients underwent pulmonary function test. RESULTS: Among 39 patients 27 showed abnormal electrocardiographic findings such as ventricular hypertrophy, ischemic change, atrial hypertrophy, T wave inversion, sinus tachycardia and ST elevation. 24 patients showed abnormal echocardiographic findings such as abnormal ejection fraction, dilated cardiomyopathy (DCMP), filling abnormality of left ventricle, global hypokinesia and reduced systolic function. 17 patients showed low ejection fraction (below 59%) and 4 of them were diagnosed as DCMP. There were significant correlations between age and ejection fraction (r= 0.552, p<0.01), between functional level and ejection fraction (r= 0.607, p<0.01) and between vital capacity and ejection fraction (r=0.547, p<0.01). However, ejection fraction showed no significant correlations with arterial CO2. CONCLUSION: Routine evaluation of the cardiac function, at least from 10 years of age, and proper treatment following early diagnosis of heart problems were necessary in patients with DMD, because they possibly have been severely affected by cardiac problems without any clinical symptoms.