Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 20
Filter
1.
Sci Rep ; 11(1): 2333, 2021 03 05.
Article in English | MEDLINE | ID: mdl-33674626

ABSTRACT

Although skeletal muscle plays a crucial role in metabolism and influences aging and chronic diseases, little is known about the genetic variations with skeletal muscle, especially in the Asian population. We performed a genome-wide association study in 2,046 participants drawn from a population-based study. Appendicular skeletal muscle mass was estimated based on appendicular lean soft tissue measured with a multi-frequency bioelectrical impedance analyzer and divided by height squared to derive the skeletal muscle index (SMI). After conducting quality control and imputing the genotypes, we analyzed 6,391,983 autosomal SNPs. A genome-wide significant association was found for the intronic variant rs138684936 in the NEB and RIF1 genes (ß = 0.217, p = 6.83 × 10-9). These two genes are next to each other and are partially overlapped on chr2q23. We conducted extensive functional annotations to gain insight into the directional biological implication of significant genetic variants. A gene-based analysis identified the significant TNFSF9 gene and confirmed the suggestive association of the NEB gene. Pathway analyses showed the significant association of regulation of multicellular organism growth gene-set and the suggestive associations of pathways related to skeletal system development or skeleton morphogenesis with SMI. In conclusion, we identified a new genetic locus on chromosome 2 for SMI with genome-wide significance. These results enhance the biological understanding of skeletal muscle mass and provide specific leads for functional experiments.


Subject(s)
Chromosomes, Human, Pair 2/genetics , Muscle Proteins/genetics , Muscle, Skeletal/metabolism , Polymorphism, Single Nucleotide , Telomere-Binding Proteins/genetics , Adult , Aged , Aging/genetics , Aging/metabolism , Female , Genome-Wide Association Study , Genotype , Humans , Male , Middle Aged , Republic of Korea/epidemiology , Sarcopenia/epidemiology , Sarcopenia/genetics , Sarcopenia/metabolism , Young Adult
2.
Arch Phys Med Rehabil ; 100(3): 495-500.e1, 2019 03.
Article in English | MEDLINE | ID: mdl-29958905

ABSTRACT

OBJECTIVES: To investigate the characteristics of oropharyngeal dysphagia in adults with dyskinetic cerebral palsy (DCP) and cervical dystonia (CD). DESIGN: Exploratory observational cross-sectional study. SETTING: University hospital. PARTICIPANTS: Seventeen patients with DCP (8 men, 9 women; age, 45.7±6.3y) enrolled in a randomized controlled trial on the effects of botulinum toxin injection on CD. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Baseline clinical assessments and videofluoroscopic swallowing studies (VFSSs) were conducted. VFSS findings were evaluated using the videofluoroscopic dysphagia scale (VDS) and the penetration-aspiration scale (PAS). The Gross Motor Function Classification System (GMFCS) and Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) scores were also assessed. Relationships between outcomes were evaluated using Spearman's rank correlation. RESULTS: The clinical assessment revealed abnormalities in chewing (n=10, 58.8%), tongue movement (n=10, 58.8%), and laryngeal elevation (n=8, 47.1%). The most common abnormality on the VDS was inadequate mastication (n=13, 76.5%), followed by premature bolus loss, vallecular residue, and penetration/aspiration (all: n=10, 58.8%). A maximum PAS score of 8 was observed in 8 of 17 patients (47.1%). Total and pharyngeal VDS scores were significantly correlated with TWSTRS scores (ρ=0.543, P=.024 and ρ=0.539, P=.026, respectively); the VDS oral score did not correlate with the TWSTRS score (ρ=0.446, P=.073). There was no significant correlation between VDS score and GMFCS level (ρ=0.212, P=.414). CONCLUSIONS: This preliminary observational study presents the characteristics of oropharyngeal dysphagia in adults with DCP and CD. Pharyngeal stage difficulties were negatively correlated with severity of CD, but not with GMFCS level. Screening for dysphagia may be recommended in adults with DCP and severe CD.


Subject(s)
Cerebral Palsy/physiopathology , Deglutition Disorders/physiopathology , Torticollis/physiopathology , Adult , Cerebral Palsy/complications , Cineradiography , Cross-Sectional Studies , Deglutition , Deglutition Disorders/etiology , Female , Humans , Male , Mastication , Middle Aged , Pharynx/physiopathology , Severity of Illness Index , Tongue/physiopathology , Torticollis/complications
3.
Medicine (Baltimore) ; 97(37): e12281, 2018 Sep.
Article in English | MEDLINE | ID: mdl-30212965

ABSTRACT

Previous studies have demonstrated that low skeletal muscle mass is related to decreased lung function in patients with chronic obstructive pulmonary disease. However, there is little information about the relationship between skeletal muscle mass and lung function in asymptomatic adults without clinically apparent lung disease.This was a cross-sectional study of 240,562 Korean adults without known lung disease. All subjects underwent both pulmonary function test (PFT) and bioelectrical impedance analysis in the health checkup program at Kangbuk Samsung Hospital. Skeletal muscle mass index (SMI) was estimated as skeletal muscle mass/weight×100. We analyzed the relationship between SMI and PFT using multivariate logistic regression models.Of the 240,562 study subjects, values for forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and peak expiratory flow (PEF) were decreased across quartiles (Qs) of decreasing SMI. After adjustments for various confounders including demographic and health behavior-related factors, odds ratios (ORs; 95% confidence interval) for subjects with FVC% <80% for Q1-Q3 compared with Q4 (reference) were 2.97 (2.74-3.17), 2.11 (1.99-2.27), and 1.66 (1.52-1.83), respectively. ORs for subjects with FEV1% <80% for Q1-Q3 compared with Q4 were 2.64 (2.43-2.83), 1.96 (1.83-2.09), and 1.51 (1.43-1.62), respectively. Lastly, OR for subjects with PEF% <80% for Q1-Q3 compared with Q4 were 1.73 (1.58-1.89), 1.35 (1.26-1.45), and 1.23 (1.15-1.30), individually. Subgroup analyses for gender and all age groups showed the associations of decreasing SMI Qs with lower FVC%, FEV1%, and PEF% remained significant.Decreased SMI was independently associated with decline in lung function in apparently healthy adults. This association was sustained in subgroup analyses by gender and all age groups.


Subject(s)
Lung/physiopathology , Muscle, Skeletal/pathology , Sarcopenia/physiopathology , Adolescent , Adult , Aged , Aged, 80 and over , Cross-Sectional Studies , Electric Impedance , Female , Forced Expiratory Volume/physiology , Healthy Volunteers , Humans , Logistic Models , Male , Middle Aged , Multivariate Analysis , Muscle, Skeletal/physiopathology , Odds Ratio , Republic of Korea , Respiratory Function Tests , Vital Capacity/physiology , Young Adult
4.
Toxins (Basel) ; 10(5)2018 05 16.
Article in English | MEDLINE | ID: mdl-29772695

ABSTRACT

We aimed to evaluate the efficacy and safety of injecting botulinum toxin A (BoNT-A) into the neck muscles to treat cervical dystonia (CD) in patients with dyskinetic cerebral palsy (CP). This was a randomized, double-blinded, placebo-controlled trial with cross-over design. We prospectively enrolled adults with dyskinetic CP who were over 20 years old and had been clinically diagnosed with CD for more than one year. The primary outcome measure was the change in Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) at four weeks from the baseline TWSTRS. Seventeen patients were initially enrolled, but one patient was excluded after the final evaluation because of a violation of the study protocol. At four weeks, the BoNT-A injections showed significant improvement in TWSTRS total scores compared to the saline injections (p = 0.0286 for ANCOVA). At 12 weeks, the BoNT-A injections resulted in greater improvements in TWSTRS total scores than the saline injections without statistical significance (p = 0.0783 for ANCOVA). Dysphagia occurred in three out of 16 patients: two after BoNT-A and one after saline. The dysphagia was transient and improved naturally within two weeks without any special treatment. BoNT-A injection for CD in adults with dyskinetic CP is relatively safe and improves pain and disability.


Subject(s)
Botulinum Toxins, Type A/therapeutic use , Neuromuscular Agents/therapeutic use , Torticollis/drug therapy , Adult , Cross-Over Studies , Double-Blind Method , Humans , Injections
5.
Ann Rehabil Med ; 42(2): 204-212, 2018 Apr.
Article in English | MEDLINE | ID: mdl-29765873

ABSTRACT

OBJECTIVE: To evaluate the characteristics of cricopharyngeal dysfunction (CPD), the frequency, and correlation with a brain lesion in patients with first-ever ischemic stroke, and to provide basic data for developing a therapeutic protocol for dysphagia management. METHODS: We retrospectively reviewed the medical records of a series of subjects post-stroke who underwent a videofluoroscopic swallowing study (VFSS) from January 2009 to December 2015. VFSS images were recorded on videotape and analyzed. CPD was defined as the retention of more than 25% of residue in the pyriform sinus after swallowing. The location of the brain lesion was assessed using magnetic resonance imaging. RESULTS: Among the 262 dysphagic patients with first-ever ischemic stroke, 15 (5.7%) showed CPD on the VFSS. Patients with an infratentorial lesion had a significantly higher proportion of CPD than those with a supratentorial lesion (p=0.003), and lateral medullary infarction was identified as the single independent predictor of CPD (multivariable analysis: odds ratio=19.417; confidence interval, 5.560-67.804; p<0.0001). Compared to patients without CPD, those with CPD had a significantly prolonged pharyngeal transit time, lower laryngeal elevation, and a higher pharyngeal constriction ratio and functional dysphagia scale score. CONCLUSION: Overall, the results support the notion that an impaired upper esopharyngeal opening is likely related to the specific locations of brain lesions. The association of CPD with lateral medullary infarction can be explained based on the regulation of the pharyngolaryngeal motor system by the motor neurons present in the dorsal nucleus ambiguus. Overall, the results reveal the relation between CPD and the problems in the pharyngeal phase as well as the severity of dysphagia.

7.
Ann Rehabil Med ; 41(5): 776-785, 2017 Oct.
Article in English | MEDLINE | ID: mdl-29201816

ABSTRACT

OBJECTIVE: To compare swallowing function between healthy subjects and patients with pharyngeal dysphagia using high resolution manometry (HRM) and to evaluate the usefulness of HRM for detecting pharyngeal dysphagia. METHODS: Seventy-five patients with dysphagia and 28 healthy subjects were included in this study. Diagnosis of dysphagia was confirmed by a videofluoroscopy. HRM was performed to measure pressure and timing information at the velopharynx (VP), tongue base (TB), and upper esophageal sphincter (UES). HRM parameters were compared between dysphagia and healthy groups. Optimal threshold values of significant HRM parameters for dysphagia were determined. RESULTS: VP maximal pressure, TB maximal pressure, UES relaxation duration, and UES resting pressure were lower in the dysphagia group than those in healthy group. UES minimal pressure was higher in dysphagia group than in the healthy group. Receiver operating characteristic (ROC) analyses were conducted to validate optimal threshold values for significant HRM parameters to identify patients with pharyngeal dysphagia. With maximal VP pressure at a threshold value of 144.0 mmHg, dysphagia was identified with 96.4% sensitivity and 74.7% specificity. With maximal TB pressure at a threshold value of 158.0 mmHg, dysphagia was identified with 96.4% sensitivity and 77.3% specificity. At a threshold value of 2.0 mmHg for UES minimal pressure, dysphagia was diagnosed at 74.7% sensitivity and 60.7% specificity. Lastly, UES relaxation duration of <0.58 seconds had 85.7% sensitivity and 65.3% specificity, and UES resting pressure of <75.0 mmHg had 89.3% sensitivity and 90.7% specificity for identifying dysphagia. CONCLUSION: We present evidence that HRM could be a useful evaluation tool for detecting pharyngeal dysphagia.

8.
Neurol Res ; 39(12): 1114-1124, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28948857

ABSTRACT

Objectives Recent evidence shows that stem cells exert neuroprotective effect through the secretion of immune modulatory, neurotrophic factors. We aimed to assess the neuroprotective effect of selected recombinant factors (RFs) detected in human adipose stem cell (hASC)-conditioned medium (CM), in a rat ischemic stroke model. Methods Ischemic stroke was induced in Sprague-Dawley rats using 2 h transient middle cerebral artery occlusion (MCAO). One hour after reperfusion, the vehicle (Dulbecco's modified Eagle medium; DMEM), concentrated CM, and selected RFs mixed with DMEM were administered intracerebroventricularly to each group (N = 14, 15, and 16, respectively). Rats were sacrificed 24 h after MCAO. Results IL-6, VEGF, HGF, and BDNF were detected in hASC-CM. At 24 h post-MCAO, the CM and RF groups both showed significantly better sensorimotor neurological test scores than the control group. The infarct volume was significantly lower in both the CM and RF groups than in the control group. The number of TUNEL-positive apoptotic cells was reduced, whereas HSP70 expression was enhanced in the peri-infarct area in both the CM and RF groups. Moreover, hASC-CM and RFs reduced IκB phosphorylation and influenced bcl-2 and bax protein expression. Conclusions Our results suggest that RFs, selected from hASC-CM, may exert a neuroprotective effect in an ischemic stroke rat model that is comparable to the neuroprotective effect of full hASC-CM. The therapeutic effects of the RFs may be mediated by an anti-inflammatory mechanism and cell apoptosis inhibition. Hence, treatment with RFs can be considered a feasible substitute for stem cell therapy after stroke.


Subject(s)
Adipocytes/metabolism , Brain Ischemia/drug therapy , Culture Media, Conditioned/pharmacology , Neuroprotective Agents/pharmacology , Stem Cells/metabolism , Stroke/drug therapy , Animals , Brain/drug effects , Brain/metabolism , Brain/pathology , Brain Ischemia/pathology , Brain Ischemia/physiopathology , Cells, Cultured , Disease Models, Animal , Humans , Injections, Intraventricular , Male , Motor Activity/drug effects , Random Allocation , Rats, Sprague-Dawley , Stroke/pathology , Stroke/physiopathology
9.
Restor Neurol Neurosci ; 35(5): 527-536, 2017.
Article in English | MEDLINE | ID: mdl-28800341

ABSTRACT

BACKGROUND: Although robotic-assisted gait training (RAGT) is becoming a standard method in stroke rehabilitation, its effect on chronic stroke patients is uncertain. OBJECTIVE: This study aimed to investigate whether anodal transcranial direct current stimulation (tDCS) enhances the effect of RAGT on functional ambulation in chronic stroke patients. METHODS: Chronic hemiplegic stroke patients with a Functional Ambulatory Category (FAC) score≤4 were randomly assigned to either the RAGT with anodal tDCS (Anodal) group the sham tDCS (Sham) group. The patients were provided with RAGT for 45 min after allocated tDCS on the leg motor cortex in the impaired hemisphere for 20 min every weekday for 2 weeks. The primary outcome measure was the FAC, and the secondary outcome measures included 10-m walking test, 6-min walking test, Berg Balance Scale, Fugl-Meyer assessment of the lower extremity, Medical Research Council Scale, and motor-evoked potential (MEP) parameters. They were evaluated before treatment (T0), immediately after treatment (T1), and 4 weeks after the end of treatment (T2). RESULTS: Twenty-one patients were finally included. The percentage of participants who achieved improvement in the FAC score was greater in the Anodal group than in the Sham group, and the difference was significant at T2 (66.7% vs. 12.5%, p = 0.024). In secondary outcome measures, the Anodal group showed greater improvement in the 6-min walking test than the Sham group at T2 (56.49±38.87 vs. 23.59±17.00, p = 0.038). The changes in the MEP parameters were not significantly different between the two groups. CONCLUSION: This pilot study suggested that anodal tDCS on the leg motor cortex in the impaired hemisphere may facilitate the effect of RAGT on functional ambulation in chronic stroke patients. Larger clinical trials will be needed to confirm the effect of RAGT combined with tDCS in chronic stroke patients based on the present study.


Subject(s)
Exercise Therapy , Gait , Stroke Rehabilitation , Transcranial Direct Current Stimulation , Aged , Aged, 80 and over , Chronic Disease , Double-Blind Method , Evoked Potentials, Motor , Exercise Therapy/methods , Female , Functional Laterality , Humans , Leg/physiopathology , Male , Middle Aged , Motor Cortex/physiopathology , Paresis/physiopathology , Paresis/rehabilitation , Pilot Projects , Postural Balance , Recovery of Function , Stroke/physiopathology , Stroke Rehabilitation/methods , Transcranial Direct Current Stimulation/methods , Treatment Outcome
10.
Am J Gastroenterol ; 112(7): 1074-1083, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28374817

ABSTRACT

OBJECTIVES: The introduction of high-resolution manometry (HRM) offered an improved method to objectively analyze the status of pharynx and esophagus. At present, HRM for patients with oropharyngeal dysphagia has been poorly studied. We aimed to determine feeding method and predict the development of aspiration pneumonia in patients with oropharyngeal dysphagia using HRM. METHODS: We recruited 120 patients with dysphagia who underwent both HRM and videofluoroscopic swallow study. HRM was used to estimate pressure events from velopharynx (VP) to upper esophageal sphincter (UES). Feeding methods were determined to non-oral or oral feeding according to dysphagia severity. We prospectively followed patients to assess the development of aspiration pneumonia. RESULTS: VP maximal pressure and UES relaxation duration were independently associated with non-oral feeding. Non-oral feeding was determined based on optimal cutoff value of 105.0 mm Hg for VP maximal pressure (95.0% sensitivity and 70.0% specificity) and 0.45 s for UES relaxation duration (76.3% sensitivity and 57.5% specificity), respectively. During a mean follow-up of 18.8 months, 15.8% of patients developed aspiration pneumonia. On multivariate Cox regression analysis, VP maximal pressure (P<0.01) and UES relaxation duration (P<0.05) independently predicted the development of aspiration pneumonia. Cumulative incidence of aspiration pneumonia was significantly increased in patients with readings below optimal cutoff values for VP maximal pressure (P<0.01) and UES relaxation duration (P<0.01), individually. CONCLUSIONS: We first established the optimal thresholds for HRM parameters to determine feeding method and predict the development of aspiration pneumonia in patients with oropharyngeal dysphagia.


Subject(s)
Deglutition Disorders/complications , Deglutition Disorders/physiopathology , Feeding Methods , Manometry/methods , Pneumonia, Aspiration/etiology , Aged , Female , Humans , Male , Middle Aged , Predictive Value of Tests , Prospective Studies , Sensitivity and Specificity , Severity of Illness Index
11.
Ann Rehabil Med ; 41(1): 42-50, 2017 Feb.
Article in English | MEDLINE | ID: mdl-28289634

ABSTRACT

OBJECTIVE: To investigate the factors affecting prognosis of extracorporeal shockwave therapy (ESWT) for chronic refractory Achilles tendinopathy (AT). METHODS: Thirty-six patients (48 consecutive feet) with chronic AT (>6 months) and who underwent ESWT for 'poor' or 'fair' grade in Roles-Maudsley Score (RMS) after unsuccessful conservative treatment were included in the present study. A maximum of 12 sessions of ESWT were conducted until treatment success: RMS reached 'good' or 'excellent'. Termination of ESWT for no response, or 'poor' or 'fair' grade was regarded as treatment failure. Immediate outcome, long-term outcome (telephone interview after mean 26 months), and factors affecting treatment success were analyzed. RESULTS: Numeric Rating Scale was significantly decreased at immediate and long-term follow-up. Success rate was 71.1% and 90.3%, respectively. Univariate logistic regression identified that immediate treatment success was associated with retrocalcaneal enthesophyte on X-ray (odds ratio [OR], 0.06; 95% confidence interval [CI], 0.01-0.28), pretreatment abnormal ultrasonography echogenicity within Achilles tendon (OR, 18.89; 95% CI, 2.08-171.96), mean duration of 'post-treatment soreness' (OR, 0.55; 95% CI, 0.33-0.94), and duration of 'post-treatment soreness after first ESWT' (OR, 0.06; 95% CI, 0.01-0.34). The duration of 'post-treatment soreness after first ESWT' was found to be the only factor associated with long-term success (OR, 0.32; 95% CI, 0.10-0.99). CONCLUSION: ESWT appears to be effective in achieving long-term success in chronic refractory AT. Immediate success was associated with absence of retrocalcaneal enthesophyte on X-ray, presence of pretreatment abnormal ultrasonography echogenicity, shorter mean duration of 'post-treatment soreness', and shorter duration of 'post-treatment soreness after first ESWT'. The shorter duration of 'post-treatment soreness after first ESWT' was identified as the only positive prognostic parameter in achieving long-term success.

12.
Am J Phys Med Rehabil ; 96(9): 616-620, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28085737

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the association between grip strength on the unaffected side and post-stroke functional improvement. DESIGN: A total of 127 patients with unilateral stroke were included in this study. Demographic data, clinical data on initial grip strength, initial National Institutes of Health Stroke Scale, admission and discharge Modified Barthel Index (MBI), and stroke profiles were retrospectively reviewed. RESULTS: Univariate and multiple linear regression analyses were carried out to evaluate the predictive values of each variable. In the model for discharge MBI, age, initial National Institutes of Health Stroke Scale, grip strength on the unaffected side, lesion side, and admission MBI were shown to be independent predictors. Meanwhile, grip strength on the unaffected side, lesion side, and admission MBI had significant predictive values in the model for difference between admission and discharge MBI. CONCLUSION: The current study suggests for the first time that grip strength on the unaffected side is an independent predictor for short-term functional gain and outcome after stroke. This result may change post-stroke rehabilitation strategies to emphasize exercises to prevent loss of muscle strength. In addition, this implies the possibility of a relationship between sarcopenia and post-stroke function. Further research is needed to reveal the effect of sarcopenia on stroke patients and its mechanism.


Subject(s)
Hand Strength , Recovery of Function/physiology , Severity of Illness Index , Stroke Rehabilitation/statistics & numerical data , Stroke/physiopathology , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Patient Discharge/statistics & numerical data , Predictive Value of Tests , Regression Analysis , Retrospective Studies , Treatment Outcome
13.
J Neurol Sci ; 357(1-2): 192-7, 2015 Oct 15.
Article in English | MEDLINE | ID: mdl-26233808

ABSTRACT

Botulinum toxin A is widely used in the clinics to reduce spasticity and improve upper limb function for post-stroke patients. Efficacy and safety of a new botulinum toxin type A, NABOTA (DWP450) in post-stroke upper limb spasticity was evaluated in comparison with Botox (onabotulinum toxin A). A total of 197 patients with post-stroke upper limb spasticity were included in this study and randomly assigned to NABOTA group (n=99) or Botox group (n=98). Wrist flexors with modified Ashworth Scale (MAS) grade 2 or greater, and elbow flexors, thumb flexors and finger flexors with MAS 1 or greater were injected with either drug. The primary outcome was the change of wrist flexor MAS between baseline and 4weeks post-injection. MAS of each injected muscle, Disability Assessment Scale (DAS), and Caregiver Burden Scale were also assessed at baseline and 4, 8, and 12weeks after the injection. Global Assessment Scale (GAS) was evaluated on the last visit at 12weeks. The change of MAS for wrist flexor between baseline and 4weeks post-injection was -1.44±0.72 in the NABOTA group and -1.46±0.77 in the Botox group. The difference of change between both groups was 0.0129 (95% confidence interval -0.2062-0.2319), within the non-inferiority margin of 0.45. Both groups showed significant improvements regarding MAS of all injected muscles, DAS, and Caregiver Burden Scale at all follow-up periods. There were no significant differences in all secondary outcome measures between the two groups. NABOTA demonstrated non-inferior efficacy and safety for improving upper limb spasticity in stroke patients compared to Botox.


Subject(s)
Botulinum Toxins, Type A/therapeutic use , Muscle Spasticity/drug therapy , Neuromuscular Agents/therapeutic use , Stroke/drug therapy , Upper Extremity , Aged , Botulinum Toxins, Type A/adverse effects , Double-Blind Method , Female , Humans , Male , Middle Aged , Muscle Spasticity/diagnosis , Muscle Spasticity/etiology , Muscle Weakness/chemically induced , Neuromuscular Agents/adverse effects , Prospective Studies , Stroke/complications , Stroke/diagnosis , Treatment Outcome , Upper Extremity/pathology
14.
Ann Rehabil Med ; 39(3): 494-7, 2015 Jun.
Article in English | MEDLINE | ID: mdl-26161358

ABSTRACT

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.

15.
J Child Neurol ; 30(2): 246-9, 2015 Feb.
Article in English | MEDLINE | ID: mdl-24659737

ABSTRACT

Intrathecal chemotherapy including methotrexate is well documented for neurotoxicity of diverse clinical manifestation. Acute or chronic leukoencephalopathy is the most common type of methotrexate-induced neurotoxicity, and subacute myelopathy is rare. Although its pathogenesis is not fully understood, it is postulated that direct damage of methotrexate to the central nervous system plays a major part and elevated levels of homocysteine and its excitatory amino acid neurotransmitter metabolites (homocysteic acid and cysteine sulfinic acid) could mediate, in part, MTX-associated neurotoxicity. On the while, subacute combined degeneration is a progressive degeneration of the dorsal and lateral columns of the spinal cord, mostly due to vitamin B12 deficiency. The authors report a case of a 15-year-old boy with Burkitt leukemia who developed progressive myelopathy after intrathecal triple therapy (methotrexate, cytarabine, and hydrocortisone) whose clinical and radiologic features were compatible with subacute combined degeneration. The pathogenic mechanism could be explained by biochemical alteration by methotrexate and a possible treatment strategy was discussed.


Subject(s)
Antineoplastic Agents/adverse effects , Spinal Cord Diseases/chemically induced , Subacute Combined Degeneration/physiopathology , Adolescent , Burkitt Lymphoma/drug therapy , Humans , Magnetic Resonance Imaging , Male
16.
J Bone Miner Metab ; 32(6): 709-17, 2014 Nov.
Article in English | MEDLINE | ID: mdl-24374493

ABSTRACT

Previous studies of the effects of body fat on bone mineral density (BMD) have shown conflicting results depending on the age, sex, and menopausal status of the subjects. The purpose of the present study was to investigate the effects of body fat on BMD using data from the Fifth Korea National Health and Nutrition Examination Survey, which was conducted in 2010. Our data were drawn from a relevant population within the survey's range of participants, yielding a total of 4,138 subjects aged 20-93 years (1,133 men <50 years, 946 men ≥ 50 years, 1,332 premenopausal women, and 727 postmenopausal women). Percent body fat, fat mass (FM), lean mass (LM), and BMD of the total hip, lumbar spine, and arm were measured in the original survey using dual-energy X-ray absorptiometry. Relationships between FM and BMD were evaluated using multiple linear regression analyses. LM was the strongest determinant of BMD. Although FM also showed a significant positive correlation, even after adjusting for LM, with total hip and lumbar spine BMD in men ≥ 50 years and pre- and postmenopausal women, this positive correlation was not observed in the arm. In an analysis of obese and non-obese subgroups, the positive correlation between FM and BMD disappeared in obese subjects. Furthermore, FM and BMD exhibited a negative correlation in premenopausal obese women. These results suggest that FM contributes to BMD primarily through mechanical loading. FM, then, is not beneficial and may be detrimental to bone health in obese people.


Subject(s)
Adipose Tissue , Adiposity , Body Mass Index , Bone Density , Obesity/metabolism , Adult , Aged , Female , Hip/pathology , Humans , Lumbar Vertebrae/metabolism , Lumbar Vertebrae/pathology , Male , Middle Aged , Obesity/epidemiology , Obesity/pathology , Republic of Korea/epidemiology
17.
Otol Neurotol ; 35(2): e73-6, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24317213

ABSTRACT

OBJECTIVE: To demonstrate a phenomenon of contralateral reinnervation in facial nerve palsy patients. METHODS: Retrospective case review of 9 patients whose facial muscles were electrophysiologically proven to be reinnervated contralaterally. RESULTS: The duration from symptom onset spanned from 3 to 114 months. All subjects had moderate-to-severe facial palsy initially. Contralateral reinnervation was observed in both traumatic and idiopathic causes, also in both complete and incomplete palsies. Cross-innervation is more frequently reported in muscles near the midline; however, this is the first report demonstrating evidence of cross-innervation in muscles far from the midline--the frontalis, the orbicularis oculi, and the zygomaticus. CONCLUSION: Although contralateral reinnervation after facial nerve palsy is a common observation, it has not gained appropriate attention. Without recognition of this phenomenon, misinterpretation of the electromyography may mislead the proper timing of nerve repair or reanimation procedure. Therefore, routine examination of motor action potential by contralateral stimulation during electromyography, especially in patients with moderate-to-severe palsy, would provide accurate assessment of the injured nerves and would help in appropriate decision making for further treatment.


Subject(s)
Facial Nerve/physiology , Facial Paralysis/physiopathology , Nerve Regeneration/physiology , Adolescent , Adult , Aged , Facial Paralysis/diagnosis , Female , Humans , Male , Middle Aged , Retrospective Studies , Young Adult
18.
Ann Rehabil Med ; 37(4): 471-8, 2013 Aug.
Article in English | MEDLINE | ID: mdl-24020027

ABSTRACT

OBJECTIVE: To investigate the relationship between the rotator cuff tear (RCT) and the muscle strength in hemiplegic side, and the effects of paralysis on the affected shoulders in hemiplegic patients. METHODS: A cross-sectional observational study performed in a university hospital was presented. The study enrolled 55 participants with hemiplegia of diverse degree of motor paresis, excluding those with bilateral lesions, history of major trauma or other co-existing musculoskeletal disorders of the shoulder. The main outcome measurements were muscle strength of the affected upper extremity (based on Medical Research Council scale), RCTs of the bilateral shoulders (by ultrasonography), and presence of shoulder pain, subluxation of the glenohumeral joint, passive range of motions, and subacromial spurs. RESULTS: Comparing each side of the shoulders, the prevalence of shoulder pain and supraspinatus muscle tear was higher (p<0.0001, p=0.007), and the range of motion was restricted (p<0.0001, p<0.0001, p<0.0001, p<0.0001) in the affected side. There was a significant trend toward higher prevalence of RCT and shoulder subluxation in the weaker shoulder (p=0.019, p<0.0001). In a multivariate analysis, Manual Muscle Test grade of less than three was an independent risk factor for RCT (p=0.025). CONCLUSION: RCT in hemiplegia had a linear trend with muscle weakness in the affected side and the degree of weakness was an independent risk factor for the occurrence of RCT. In addition, shoulder pain, limitation of range of motions, and RCT were more frequent on the hemiplegic side of the shoulders. It is the first study to reveal a linear trend between RCT and upper extremity weakness and will provide physicians an insight to the management of RCTs in hemiplegic patients.

19.
Clin Biomech (Bristol, Avon) ; 28(8): 873-8, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24067873

ABSTRACT

BACKGROUND: Although many hemiplegic shoulder patients have been suffering from limited range of motion, it is not fully established whether the pathologic biomechanics are same in hemiplegic shoulder pain and adhesive capsulitis. Therefore we aimed to investigate biomechanical properties of glenohumeral joint capsules of hemiplegic shoulder pain with limited range of motions. METHODS: Participants were 14 patients with hemiplegic shoulder pain, 10 controls, and 42 adhesive capsulitis patients matched with the hemiplegic shoulder pain group for sex, age, and range of motion. Demographic data, clinical variables, and sonographic findings were comparable between hemiplegic shoulder pain and adhesive capsulitis groups. We compared capsular capacity, maximal pressure, and capsular stiffness of glenohumeral joint capsule among the 3 groups. FINDINGS: Hemiplegic shoulder pain and adhesive capsulitis groups had smaller capsular capacity and higher maximal pressure than controls. The capsular stiffness of hemiplegic shoulder pain group was higher than that of controls (P=0.001) but lower than that of adhesive capsulitis group (P<0.001). INTERPRETATION: The stiffness of glenohumeral joint capsules in hemiplegic shoulder pain and adhesive capsulitis patients was substantially higher than that in controls, suggesting that hemiplegic shoulder pain patients had stiffer capsules as adhesive capsulitis patients did although the severities were different. This finding implicates that hemiplegic shoulder pain may share common pathologic properties of tighter capsules with adhesive capsulitis. However, there may be additional mechanisms contributing to range of motion limitation in hemiplegic shoulder pain because capsular stiffness in those patients was not as severe as that in adhesive capsulitis patients with similar range of motion limitation.


Subject(s)
Bursitis/physiopathology , Hemiplegia/complications , Hemiplegia/physiopathology , Range of Motion, Articular/physiology , Shoulder Joint/physiopathology , Shoulder Pain/physiopathology , Biomechanical Phenomena , Bursitis/complications , Elasticity , Exercise Therapy/adverse effects , Female , Humans , Male , Middle Aged , Pressure , Shoulder Pain/etiology
20.
J Rehabil Med ; 44(11): 922-5, 2012 Nov.
Article in English | MEDLINE | ID: mdl-23027360

ABSTRACT

OBJECTIVE: To investigate predictive factors for percutaneous endoscopic gastrostomy (PEG) removal, thereby minimizing unnecessary PEG insertion in post-stroke dysphagia. DESIGN: Retrospective cohort study. PATIENTS: A total of 49 patients who undertook PEG tube insertion for post-stroke dysphagia. METHODS: Patients were divided into a removal group (n = 8) and a sustaining group (n = 41) depending on the presence of a PEG tube. Patients' demographic data, nutritional status, Charlson's Comorbidity Index (CCI), and video-fluoroscopic swallowing study findings at the time of PEG insertion were compared between the 2 groups. RESULTS: Eight out of 49 patients (16.3%) removed the PEG tube at a mean of 4.8 months after the insertion. Demographic data, nutritional status, and CCI were comparable between the 2 groups before tube insertion. Video-fluoroscopic swallowing study findings in the removal group showed a lower prevalence of premature bolus loss (50.0% vs 73.2%; p = 0.032), aspiration (37.5% vs 80.6%; p = 0.012) and pharyngeal trigger delay (12.5% vs 74.2%; p = 0.010) than those in the sustaining group. CONCLUSION: The absence of aspiration or pharyngeal trigger delay in video-fluoroscopic swallowing study findings at the time of PEG insertion may be a predictive factor for eventual removal of PEG tubes. Identification of removal factors will assist in determining PEG insertion.


Subject(s)
Deglutition Disorders/therapy , Deglutition , Enteral Nutrition , Stroke/therapy , Aged , Aged, 80 and over , Cohort Studies , Comorbidity , Deglutition Disorders/etiology , Female , Fluoroscopy/methods , Gastroscopy , Gastrostomy , Humans , Male , Middle Aged , Nutritional Status , Pharyngeal Diseases , Respiratory Aspiration , Retrospective Studies , Stroke/complications
SELECTION OF CITATIONS
SEARCH DETAIL