To assess the plantar pressure distribution during the robotic-assisted walking, guided through normal symmetrical hip and knee physiological kinematic trajectories, with unassisted walking in post-stroke hemiplegic patients.
Fifteen hemiplegic stroke patients, who were able to walk a minimum of ten meters independently but with asymmetric gait patterns, were enrolled in this study. All the patients performed both the robotic-assisted walking (Lokomat) and the unassisted walking on the treadmill with the same body support in random order. The contact area, contact pressure, trajectory length of center of pressure (COP), temporal data on both limbs and asymmetric index of both limbs were obtained during both walking conditions, using the F-Scan in-shoe pressure measurement system.
The contact area of midfoot and total foot on the affected side were significantly increased in robotic-assisted walking as compared to unassisted walking (p<0.01). The contact pressure of midfoot and total foot on affected limbs were also significantly increased in robotic-assisted walking (p<0.05). The anteroposterior and mediolateral trajectory length of COP were not significantly different between the two walking conditions, but their trajectory variability of COP was significantly improved (p<0.05). The asymmetric index of area, stance time, and swing time during robotic-assisted walking were statistically improved as compared with unassisted walking (p<0.05).
The robotic-assisted walking may be helpful in improving the gait stability and symmetry, but not the physiologic ankle rocker function.
Robotics; Walking; Hemiplegia; Plantar pressure; Gait symmetry
To compare the outcome of an early application of neuromuscular electrical stimulation (NMES) combined with traditional dysphagia therapy (TDT) versus traditional dysphagia therapy only in acute/subacute ischemic stroke patients with moderate to severe dysphagia by videofluoroscopic swallowing study (VFSS).
Fifty-seven dysphagic stroke patients were enrolled in a VFSS within 10 days after stroke onset. Patients were randomly assigned into two treatment groups. Thirty-one patients received NMES combined with TDT (NMES/TDT group) and 26 patients received TDT only (TDT group). Electrical stimulation with a maximal tolerable intensity was applied on both suprahyoid muscles for 30 minutes, 5 days per week during 3 weeks. The swallowing function was evaluated at baseline and 3, 6, and 12 weeks after baseline. Outcomes of the VFSS were assessed using the Functional Oral Intake Scale (FOIS).
The mean ages were 63.5±11.4 years in the NMES/TDT group and 66.7±9.5 years in the TDT group. Both groups showed a significant improvement on the FOIS after treatment. The FOIS score was significantly more improved at 3 and 6 weeks after baseline in the NMES/TDT group than in the TDT group (p<0.05).
An early application of NMES combined with TDT showed a positive effect in acute/subacute ischemic stroke patients with dysphagia. These results indicated that the early application of NMES could be used as a supplementary treatment of TDT to help rehabilitate acute/subacute dysphagic stroke patients by improving their swallowing coordination.
Dysphagia; Acute stroke; Neuromuscular electrical stimulation
To investigate the effect of virtual reality (VR) and a tetra-ataxiometric posturography (Tetrax) program on stroke patients with impaired standing balance.
Thirty acute stroke patients with impaired standing balance were recruited and randomly assigned to a VR, Tetrax, or control group. All patients received conventional balance training as a baseline; and VR and Tetrax patients received VR or Tetrax treatment, in addition. The primary outcome measures to evaluate the overall standing balance were the Berg Balance Scale (BBS) and the falling index (FI). The secondary outcome measures were the stability index (SI) and the weight distribution index (WDI), which were used to evaluate the balance status according to specific body positions. The FI, SI, and WDI were measured using the Tetrax instrument.
The BBS and FI scores were improved in all groups, with no significant differences between groups. In open-eyed positions, the VR group showed significantly greater improvement in SI and WDI scores than the control group (p<0.017). In closed-eyed positions, the Tetrax group showed significantly greater improvement in SI and WDI scores than the control group (p<0.017).
The inclusion of VR and Tetrax programs did not lead to an overall benefit in balance. VR and Tetrax did, however, demonstrate a benefit in specific positions. A Tetrax program may benefit patients with abnormal proprioceptive function, whereas a VR program may benefit patients with normal sensory function.
Stroke; Postural balance; Virtual reality exposure therapy; Feedback
To assess the relative effectiveness of three injections methods suprascapular nerve block (SSNB) alone, intra-articular steroid injection (IAI) alone, or both-on relief of hemiplegic shoulder pain.
We recruited 30 patients with hemiplegic shoulder pain after stroke. SSNB was performed in 10 patients, IAI in 10 patients, and a combination of two injections in 10 patients. All were ultrasonography guided. Each patient's maximum passive range of motion (ROM) in the shoulder was measured, and the pain intensity level was assessed with a visual analogue scale (VAS). Repeated measures were performed on pre-injection, and after injection at 1 hour, 1 week, and 1 month. Data were analyzed by Kruskal-Wallis and Friedman tests.
All variables that were repeatedly measured showed significant differences in shoulder ROM with time (p<0.05), but there was no difference according injection method. In addition, VAS was statistically significantly different with time, but there was no difference by injection method. Pain significantly decreased until a week after injection, but pain after a month was relatively increased. However, pain was decreased compared to pre-injection.
The three injection methods significantly improved shoulder ROM and pain with time, but no statistically significant difference was found between them.
Stroke; Shoulder pain; Nerve block; Intra-articular injections
To investigate the accessibility of medical services for Korean people with spinal cord injury (SCI) compared to the control group (CG) and to evaluate significantly related factors.
A total of 363 community dwelling people with chronic SCI were enrolled and 1,089 age- and sex-matched subjects were randomly selected from the general population as the CG. Self-reported access to medical services was measured by asking "Have you experienced the need for a hospital visit in the last year but could not?". This was followed up by asking the reasons for not receiving services when medically necessary. Variables, including lack of finances, difficulties making medical appointments, and lack of transportation were evaluated for accessibility to medical services.
Sixty subjects (16.5%) in the SCI group had difficulties receiving medical services due to a lack of accessibility, compared to 45 (4.1%) in the CG (p<0.001). Variables causing difficulties receiving medical services were lack of transportation (27 persons, 45%), lack of finances (24 persons, 40%), and difficulty scheduling hospital appointments (9 persons, 15%) in the SCI group. In the CG, availability (lack of available time) and acceptability (deciding not to visit the hospital due to mild symptoms) were the reasons for not receiving medical care.
People with SCI experienced limited accessibility to medical services, which was due to environmental rather than personal factors compared to that in the CG. Therefore, development of social policies to reduce or remove environmental variables is necessary.
Health services accessibility; Spinal cord injuries; Healthcare disparities
To investigate the ability of spinal cord injury (SCI) patients in the use mobile cellular devices, especially the smartphone.
Seventeen people with motor complete cervical SCI participated in the study. The assist-devices deemed most fitting were introduced to the patients: a mouth stick, multifunctional splint, activities of daily living (ADL) splint, universal cuff or none of the above. To determine the effective devices, a Multi-Directional Click Test (MDCT), Phone Number Test (PNT), and individual satisfaction inquiry were used. The most appropriate assist device was selected by MDCT. Subsequently PNT and individual satisfaction inquiry were performed with the conventional model and compared.
Those with C4 cord injury chose mouth stick. Those with C5 cord injury chose multifunctional splint (3 people) and ADL splint (2 people). Those with C6 cord injury chose universal cuff (3 people) or bare hands only. Those with C7 cord injury chose universal cuff (3 people). With a smartphone, all participants were able to complete the PNT. With a conventional model, only twelve participants (71%) were able to complete the same test. While it took 26.8±6.8 seconds with a conventional model to complete PNT, the same test took 18.8±10.9 seconds to complete with a smartphone (p<0.05). Overall, participants expressed higher satisfaction when using a smartphone.
The results offer a practical insight into the appropriate assist devices for SCI patients who wish to use mobile cellular devices, particularly smartphones. When the SCI patients are given the use of a smartphone with the appropriate assist devices, the SCI patients are expected to access mobile cellular device faster and with more satisfaction.
Cervical cord injury syndrome; Assistive device; Smartphone
To investigate neuroradiological and neurophysiological characteristics of patients with dyskinetic cerebral palsy (CP), by using magnetic resonance imaging (MRI), voxel-based morphometry (VBM), diffusion tensor tractography (DTT), and motor evoked potential (MEP).
Twenty-three patients with dyskinetic CP (13 males, 10 females; mean age 34 years, range 16-50 years) were participated in this study. Functional evaluation was assessed by the Gross Motor Functional Classification System (GMFCS) and Barry-Albright Dystonia Scale (BADS). Brain imaging was performed on 3.0 Tesla MRI, and volume change of the grey matter was assessed using VBM. The corticospinal tract (CST) and superior longitudinal fasciculus (SLF) were analyzed by DTT. MEPs were recorded in the first dorsal interossei, the biceps brachii and the deltoid muscles.
Mean BADS was 16.4±5.0 in ambulatory group (GMFCS levels I, II, and III; n=11) and 21.3±3.9 in non-ambulatory group (GMFCS levels IV and V; n=12). Twelve patients showed normal MRI findings, and eleven patients showed abnormal MRI findings (grade I, n=5; grade II, n=2; grade III, n=4). About half of patients with dyskinetic CP showed putamen and thalamus lesions on MRI. Mean BADS was 20.3±5.7 in normal MRI group and 17.5±4.0 in abnormal MRI group. VBM showed reduced volume of the hippocampus and parahippocampal gyrus. In DTT, no abnormality was observed in CST, but not in SLF. In MEPs, most patients showed normal central motor conduction time.
These results support that extrapyramidal tract, related with basal ganglia circuitry, may be responsible for the pathophysiology of dyskinetic CP rather than CST abnormality.
Cerebral palsy; Diffusion tensor imaging; Motor evoked potentials; Magnetic resonance imaging
To evaluate whether age influences a change in the spasticity of the ankle plantar flexor after botulinum toxin type A (BTA) injection in children with spastic cerebral palsy (CP).
Sixteen children with spastic CP were enrolled in the study. Seven children (group 1) were under 5 years of age, and nine (group 2) were over 5 years of age. They all received BTA injection in the gastrocnemius muscle (GCM) under ultrasound guidance. Passive range of motion (PROM) of ankle dorsiflexion, Modified Ashworth Scale (MAS) of the ankle plantar flexor, Gross Motor Function Measure (GMFM) and median red pixel intensity (RPI) of the medial GCM on real-time sonoelastography were measured at baseline (pre-injection) and 1-, 3-, and 6-month post-injection.
In both groups, the mean PROM, MAS, and RPI were significantly improved after injection until 6-month post-injection. The change of PROM of ankle dorsiflexion in group 1 was significantly greater than that in group 2, until 6-month post-injection. The change in the MAS and GMFM between baseline and 6-month post-injection in group 1 was greater than that in group 2. The changes in the median RPI between baseline and 3- and 6-month post-injections were greater in group 1 than in group 2.
Our pilot study demonstrated the different changes in spasticity of the ankle plantar flexor after BTA injection based on age. Therefore, age may be considered when establishing a treatment plan using BTA injection for children with spastic CP.
Cerebral palsy; Age; Muscle spasticity; Botulinum toxin type A; Sonoelastography
To investigate the effect of deep brain stimulation (DBS) on reducing dystonia and disability in adults with cerebral palsy (CP) and to compare the therapeutic outcomes between primary dystonia patients and CP patients over two years after bilateral pallidal DBS.
Five patients with primary dystonia and seven CP patients with dystonia were recruited. All subjects received DBS surgery in both globus pallidus. Burke-Fahn-Marsden dystonia rating scale consisting of dystonia movement score and disability score and subjective satisfaction scale were assessed after 1 month and every 6 months over two years following DBS treatment.
On the dystonia movement scale, both groups of primary dystonia patients and CP patients showed a significant decrease over time following DBS. On the disability scale, patients with primary dystonia showed a significant decrease over time, whereas the disability score of CP patients did not change over the two years. Comparing the dystonia movement and disability scores of CP patients at each assessment, patients with primary dystonia showed a significant reduction after 6 months. Comparing the satisfaction scores of CP patients after DBS, patients with primary dystonia showed significantly higher subjective satisfaction.
Whereas dystonia can be significantly reduced in patients with primary dystonia, CP patients showed a modest improvement on the dystonia movement scale, but not on the disability scale. Therefore, DBS may be considered with caution as a treatment modality of CP patients with dystonia.
Deep brain stimulation; Dystonia; Cerebral palsy; Dystonia rating scale
To evaluate the therapeutic effect of a Tibia Counter Rotator (TCR) with toe-out gait plate (GP) upon tibial internal torsion by a comparative analysis of transmalleolar angle (TMA) and gait analysis with GP alone.
Twenty participants with tibial internal torsion were recruited for this study. Each 10 participants were included in group A with TCR and GP application and in group B with GP application only. The TMA and the kinematic results were used for the evaluation of the therapeutic effects of orthoses.
Within each group, TMA showed a significant increase after treatment. Group A showed a continuous improvement up to six months, however, group B showed an improvement up to five months only. Group A showed a significantly higher correction effect than group B after treatment. Regarding kinematic data, both groups showed a significantly decreased mean ankle adduction angle after treatment. However, group A showed a significantly lower mean ankle adduction angle than group B after six months.
The group with TCR and GP showed a significantly better outcome and continued correction force compared to the group with GP only. Our results suggest that TCR with GP may be useful therapeutic orthoses for children with tibial internal torsion.
Tibia; Torsion; Foot orthoses; Gait
To compare the differences of diagnostic rates, of the two widely used test positions, in measuring vestibular evoked myogenic potentials (VEMP) and selecting the most appropriate analytical method for diagnostic criteria for the patients with vertigo.
Thirty-two patients with vertigo were tested in two comparative testing positions: turning the head to the opposite side of the evaluating side and bowing while in seated position, and bowing while in supine positions. Abnormalities were determined by prolonged latency of p13 or n23, shortening of the interpeak latency, and absence of VEMP formation.
Using the three criteria above for determining abnormalities, both the seated and supine positions showed no significant differences in diagnostic rates, however, the concordance correlation of the two positions was low. When using only the prolonged latency of p13 or n23 in the two positions, diagnostic rates were not significantly different and their concordance correlation was high. On the other hand, using only the shortened interpeak latency in both positions showed no significant difference of diagnostic rates, and the degree of agreement between two positions was low.
Bowing while in seated position with the head turned in the opposite direction to the area being evaluated is found to be the best VEMP test position due to the consistent level of sternocleidomastoid muscle tension and the high level of compliance. Also, among other diagnostic analysis methods, using prolonged latency of p13 or n23 as the criterion is found to be the most appropriate method of analysis for the VEMP test.
Vestibular evoked myogenic potentials (VEMP); Patient positioning; Data interpretation
To investigate the effects of asymptomatic back muscle weakness and spinal deformity on low back pain (LBP).
Sixty healthy subjects without LBP participated in this study. Radiography and an isokinetic/isometric dynamometer were used to respectively measure spinal scoliosis/lordosis and the strength of the trunk flexors/extensors. After 2 years, 48 subjects visited the hospital again and LBP episodes, its severity and the Korean version of the Oswestry Disability Index were assessed. Differences between the group with LBP and the group without LBP were evaluated and the association with LBP incidence and severity was determined.
Sex, age, and trunk strength were significantly different in both group. Sex and age were significantly positive associated with LBP incidence. The isometric trunk flexor and extensor strength, maximum isokinetic trunk flexor and extensor strength were significantly and negatively associated with the LBP severity. The maximum isokinetic trunk extensor and maximum isometric trunk extensor strength was significantly negative associated with the LBP incidence.
LBP incidence is associated with isometric and isokinetic trunk extensor weakness, whereas LBP severity is associated with age, sex, isokinetic trunk extensor and flexor weakness, isometric trunk extensor and flexor weakness.
Low back pain; Muscle weakness; Muscle strength dynamometer; Age; Sex
To determine overall handgrip strength (HGS), we assessed the short-term change of HGS after trigger point injection (TPI) in women with muscular pain in the upper extremities by comparison with established pain scales.
The study enrolled 50 female patients (FMS with MPS group: 29 patients with combined fibromyalgia [FMS] and myofascial pain syndrome [MPS]; MPS group: 21 patients with MPS) who presented with muscular pain in the upper extremities at Konyang University Hospital. In addition, a total of 9 healthy women (control group) were prospectively enrolled in the study. We surveyed the three groups using the following established pain scales: the Fibromyalgia Impact Questionnaire (FIQ), the 36-Item Short Form Health Survey (SF-36), and the Short Form McGill Pain Questionnaire (MPQ). HGS was measured in both hands of study participants using a handgrip dynamometer. We performed TPI (0.5% lidocaine, total 10 mL, injected at the pain site of upper extremities). After 20 minutes, we remeasured the patient's HGS and MPQ score.
ANOVA analysis was conducted among groups. Based on Tukey multiple comparison test, the majority of FIQ and SF-36 subscales, total FIQ and SF-36 scores, MPQ and HGS were significantly different between FMS with MPS and the other groups. There was no statistically significant difference between MPS and control groups. Higher HGS was positively associated with enhanced physical function, negatively associated with total FIQ and MPQ scores, and positively associated with the total SF-36 score calculated using Spearman correlation. Post-TPI MPQ decreased and HGS increased. In patient groups, a negative correlation was found between MPQ and HGS.
The HGS test might potentially be a complementary tool in assessing the short-term treatment effects of women with muscular pain in the upper extremities.
Fibromyalgia; Hand strength; Trigger point injection
To assess the prevalence of peripheral neuropathy in patients with rheumatoid arthritis (RA) having neuropathic symptoms, and to investigate the relationship between electrophysiological findings of peripheral neuropathy and clinical findings of RA.
Patients with a clinical diagnosis of RA and who had tingling or burning sensation in any extremity were electrophysiologically examined for evidence of peripheral neuropathy. Study parameters, including age, gender, laboratory parameters, duration of RA, and medication, were recorded. The symptoms and signs of neuropathy were quantified with the neuropathy symptom score, and the functional statuses of these patients were assessed.
Out of a total of 30 RA patients, 10 (33%) had peripheral neuropathy: 2 had bilateral carpal tunnel syndrome (CTS), 5 had unilateral CTS, 1 had sensory polyneuropathy, and 2 had motor-sensory polyneuropathy. The mean ages of the patients with and without peripheral neuropathy were 69.4 and 56.5 years, respectively (p<0.05). A significant relationship was found between peripheral neuropathy and anti-cyclic citrullinated peptide (anti-CCP) antibody. However, no relationship was found between peripheral neuropathy and the type of medication, RA duration, the patients' functional status, neuropathic symptoms, erythrocyte sedimentation rate, and C-reactive protein values.
Neuropathic symptoms are common in RA patients, and it is difficult to distinguish peripheral neuropathy symptoms from those of arthritis. Patients with RA, particularly elderly patients and anti-CCP antibody positive patients who complain of neuropathic symptoms should undergo electrophysiological examination.
Rheumatoid arthritis; Peripheral neuropathy; Anti-cyclic citrullinated peptide
To compare the rate of progression of de novo lesion between the cardiac rehabilitation (CR) and control groups.
This is a retrospective observational study. Patients who received drug-eluting stent (DES) due to acute coronary syndrome were included as subjects. The CR group received eight weeks of early CR program, and sustained a self-exercise program in the homes. The control group was instructed to exercise independently. Nine months after the first insertion of DES, we implemented follow-up coronary angiography, and compared the rate of progression of de novo lesion by quantitative angiographic measurement between the two groups.
A total of 81 patients were recruited as subjects to CR group (n=32) or control group (n=49). At nine months, late luminal loss was 0.04±0.23 mm in the CR group and 0.00±0.31 mm in the control group (p=0.54, observed power=0.10). Late loss was -0.90%±9.53% in the CR group and 0.80%±11.15% in the control group (p=0.58, observed power=0.05). No target lesion revascularization procedures were needed in the CR group, while two in the control group (p=0.25). In the CR group, mean VO2max was significantly improved from 24.36±5.00 to 27.68±5.24 mL/kg/min (p<0.001).
We could not observe a statistically significant difference in the progression rate of de novo lesion between the CR and control groups. Thus the current amount of nine months exercise-based CR program does not seem to have a distinct impact on the retardation of de novo coronary lesion in patients who received percutaneous coronary intervention with DES.
Coronary stenosis; Drug-eluting stents; Exercise; Rehabilitation
Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disease characterized by multiorgan involvement with diverse clinical presentations. Central nervous system involvement in neuropsychiatric syndromes of SLE (NPSLE), such as cerebrovascular disease and myelopathy, is a major cause of morbidity and mortality in SLE patients. The concomitant occurrence of myelopathy, cerebrovascular disease, and peripheral neuropathy in a patient with SLE has not yet been reported. We report on a 41-year-old woman with SLE who showed motor and sensory impairment with urinary retention and was diagnosed with cervical myelopathy and acute cerebral infarction by spine and brain magnetic resonance imaging and peripheral neuropathy by electrodiagnostic examination. Even though pathogenesis of NPSLE is not well elucidated, we assume that increased antibodies of anti-double stranded DNA (anti-dsDNA), presence of lupus anticoagulant and hypertension are risk factors that have caused neuropsychiatric lupus in this patient.
Systemic lupus erythematosus; Myelopathy; Cerebral infarction
Central hyperthermia is a very rare disease; however, once it happens, it is associated with a poor prognosis and high mortality for patients with severe brainstem strokes. Following a pontine hemorrhage, a 46-years-old female developed prolonged hyperthermia. Work-ups to the fever gave no significant clues for the origin of fever, and hyperthermia did not respond to any empirical antibiotics or antipyretic agents. The patient's body temperature still fluctuated in a range of 37.5℃ to 39.2℃. Considering the lesion of hemorrhage, we suspected central hyperthermia rather than infectious diseases. We started with baclofen administration at a dose of 30 mg/day. The body temperature changed to a range of 36.6℃ to 38.2℃. We raised the dose of baclofen to 60 mg/day. The patient's body temperature finally dropped to a normal range. Central hyperthermia, caused by failures of thermoregulatory pathways in brainstem, following the pontine hemorrhage rarely occurs. Baclofen can be used to treat suspected central hyperthermia in a patient with pontine hemorrhage.
Fever; Pons; Hemorrhage; Baclofen
Chronic, refractory abdominal pain without a metabolic or structural gastroenterological etiology can be challenging for diagnosis and management. Even though it is rare, it has been reported that such a recurrent abdominal pain associated with radicular pattern can be derived from structural neurologic lesion like spinal cord tumor. We experienced an unusual case of chronic recurrent abdominal pain that lasted for two years without definite neurologic deficits in a patient, who has been harboring thoracic spinal cord tumor. During an extensive gastroenterological workup for the abdominal pain, the spinal cord tumor had been found and was resected through surgery. Since then, the inexplicable pain sustained over a long period of time eventually resolved. This case highlights the importance of taking into consideration the possibility of spinal cord tumor in differential diagnosis when a patient complains of chronic and recurrent abdominal pain without other medical abnormalities.
Abdominal pain; Spinal cord tumor
Electrical shock can result in neurological complications, involving both peripheral and central nervous systems, which may present immediately or later on. However, delayed neurological complications caused by low-voltage electric shock are rarely reported. Here, a case of a man suffering from weakness and aphasia due to the delayed-onset of the peripheral nerve injury and ischemic stroke following an electrical shock is presented. Possible mechanisms underlying the neurological complications include thermal injury to perineural tissue, overactivity of the sympathetic nervous system, vascular injury, and histological or electrophysiological changes. Moreover, vasospasms caused by low-voltage alternating current may predispose individuals to ischemic stroke. Therefore, clinicians should consider the possibility of neurological complications, even if the onset of the symptoms is delayed, and should perform diagnostic tests, such as electrophysiology or imaging, when patients present with weakness following an electric injury.
Electric injuries; Stroke; Peripheral nerve injuries
Carpal tunnel release is required to treat patients with severe carpal tunnel syndrome. The regional anesthesia of the upper limb by brachial plexus block (BPB) may be a good alternative to general anesthesia for carpal tunnel release surgery, because it results in less complications. However, the regional anesthesia still has various side effects, such as hematoma, infection, and peripheral neuropathy. We hereby report a rare case of median nerve injury caused by BPB for carpal tunnel release.
Carpal tunnel syndrome; Brachial plexus
Neuralgic amyotrophy (NA) is characterized by acute onset of severe pain, followed by muscular weakness and wasting of the shoulder girdle. While the diagnosis of NA mainly relies on the clinical history and examination, some investigations including electrophysiologic study and radiologic study may help to confirm the diagnosis. Magnetic resonance neurography (MRN), a new technique for the evaluation of peripheral nerve disorders, can be helpful in the diagnosis of NA. MRN presents additional benefits in comparison to conventional magnetic resonance imaging in the diagnosis of idiopathic NA (INA). In this report, we present the first four cases of classic INA diagnosed with MRN in subacute stage. MRN imaging modality should be considered in patients clinically suspected of INA.
Neuralgic amyotrophy; Idiopathic brachial plexus neuritis; Magnetic resonance neurography
Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint hyperlaxity), difficulty of respiration, and many skin keloids. Her hip computed tomography showed diffuse fatty infiltration and the 'central shadow' sign in thigh muscles. From the clinical information suggesting collagen type VI related muscle disorder, UCMD was highly considered. COL6A1 gene sequencing confirmed this patient as UCMD with novel c.904G>A (p.Gly302Arg) variant. If musculoskeletal and dermatologic manifestations and radiologic findings imply abnormalities in collagen type VI network, COL6A related congenital muscular dystrophy was to be suspected.
Ullrich congenital muscular dystrophy; Collagen type VI related muscle disorders; COL6A mutation
To determine whether ACE insertion/deletion (I/D) polymorphism is associated with the ossification of the posterior longitudinal ligament (OPLL) of the spine in the Korean population.
A case-control study was conducted to investigate the association between I/D polymorphism of the angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE) gene and OPLL. The 95 OPLL patients and 274 control subjects were recruited. Polymerase chain reaction for the genotyping of ACE I/D polymorphism was performed. The difference between the OPLL patients and the control subjects was compared using the contingency χ2 test and the logistic regression analysis. For statistical analysis, SPSS, SNPStats, SNPAnalyzer, and Helixtree programs were used.
The genotype and allele frequencies of ACE I/D polymorphism showed significant differences between the OPLL patients and the control subjects (genotype, p<0.001; allele, p=0.009). The frequencies of D/D genotype and D allele in the OPLL group were higher than those in the control group. In logistic regression analysis, ACE I/D polymorphism was associated with OPLL (dominant model; p=0.002; odd ratio, 2.20; 95% confidence interval, 1.33-3.65).
These results suggest that the deletion polymorphism of the ACE gene may be a risk factor for the development of OPLL in the Korean population.
Ossification of the posterior longitudinal ligament; Angiotension converting enzyme; Genetic polymorphism; Genetic association analysis
To find the characteristics of elderly gait, we compared the elderly walking at a moderate speed with the young adult walking at a slow, moderate, and fast speed.
3D gait analysis was performed on 15 elderly and 15 young adults. Temporo-spatial, kinematic, and kinetic parameters were obtained. Self-selected moderate speed of the elderly walking was compared with self-selected varying speed of the young adults walking.
The elderly walked at slower speeds and had shorter step length, but showed similar cadences compared to the young adults. These results remained identical even after the normalization with height. The kinematic and the kinetic graph patterns did not show specific differences between the elderly and the young subjects. Ankle plantarflexion (APF) motion was prominently decreased in the elderly subjects. Hip flexion (HF) motion remained within similar range for the young adults'. HF moment and power were similar with the young adults', but APF power and hip extension power were decreased in the elderly subjects'.
A decreased APF motion and power were thought to be specific findings in the elderly walking. The preservation of HF motion and power could be considered a compensation mechanism or a modified neuromuscular pattern in the elderly. The characteristics of the elderly walking should be taken into account when planning rehabilitation strategies of elderly gait training and for future studies on the elderly population.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible.
Hereditary neuropathy with liability to pressure palsies; Ultrasonography; Electrophysiology