Prognostic factors for tracheostomy early decannulation in acquired brain injury patients.

After severe brain injuries, a tracheostomy tube is usually inserted for respiratory support. This study aimed to clarify the prognostic factors for tracheostomy early decannulation in patients with acquired brain injuries. We retrospectively reviewed the medical records of inpatients with acquired brain injuries who underwent successful tracheostomy decannulation between March 2021 and June 2022. Fifty-six patients were included; median age was 68 (59-72) years; 28 (50%) were men; 28 (50%) underwent tracheostomy due to stroke. The median time to decannulation was 47 days. The patients were divided into the early and the late decannulation groups based on the median time, and compared. In univariate analysis, the early decannulation group had a higher BMI, peak cough flow, and acquired brain injuries due to trauma, and a lower penetration-aspiration scale score, duration of antibiotic use, and duration of oxygen use. Multivariate Cox regression analysis revealed that a higher initial peak cough flow [hazard ratio (HR) 1.142; 95% confidence interval (CI) 0.912-0.954; P  < 0.001] and lower duration of oxygen use (HR 0.930; 95% CI 0.502-0.864; P  = 0.016) were independent factors for early tracheostomy decannulation, with each unit increase in peak cough flow corresponding to a 14.2% increase and each additional day of duration of oxygen use corresponding to a 7.0% decrease in the likelihood of early decannulation. In conclusion, key prognostic factors for early tracheostomy decannulation were identified as the initial cough strength and duration of oxygen use. These results could play important role in decannulation plans for patients with tracheostomy tube.

Well-Balanced Ambipolar Charge Transport of Diketopyrrolepyrrole-Based Copolymers: Organic Field-Effect Transistors and High-Voltage Logic Applications.

A poly (3,6-bis(thiophen-2-yl)-2,5-bis(2-decyltetradecyl)-2,5-dihydropyrrolo[3,4-c]pyrrole-1,4-dione-co-(2,3-bis(phenyl)acrylonitrile)) (PDPADPP) copolymer, composed of diketopyrrolopyrrole (DPP) and a cyano (nitrile) group with a vinylene spacer linking two benzene rings, is synthesized via a palladium-catalyzed Suzuki coupling reaction. The electrical performance of PDPADPP in organic field-effect transistors (OFETs) and circuits is investigated. The OFETs based on PDPADPP exhibit typical ambipolar transport characteristics, with the as-cast OFETs demonstrating low field-effect hole and electron mobility values of 0.016 and 0.004 cm2  V-1  s-1 , respectively. However, after thermal annealing at 240 °C, the OFETs exhibit improved transport characteristics with highly balanced ambipolar transport, showing average hole and electron mobility values of 0.065 and 0.116 cm2  V-1  s-1 , respectively. To verify the application of the PDPADPP OFETs in high-voltage logic circuits, compact modeling using the industry-standard small-signal Berkeley short-channel IGFET model (BSIM) is performed, and the logic application characteristics are evaluated. The circuit simulation results demonstrate excellent logic application performance of the PDPADPP-based ambipolar transistor and illustrate that the device annealed at 240 °C exhibits ideal circuit characteristics.

Osmotic demyelination syndrome caused by rapid correction of hyperammonemia and continuous hyperbilirubinemia: a case report and review of the literature.

Osmotic demyelination syndrome (ODS) is an acute demyelinating disorder characterized by the loss of myelin in the center of the basis pons, defined as central pontine myelinolysis (CPM), and demyelination in locations outside the pons, defined as extrapontine myelinolysis (EPM). ODS including CPM and EPM is mainly caused by rapid correction of hyponatremia. However, there are several reports of ODS in medical conditions such as malnutrition; alcoholism; liver transplantation; malignancy; sepsis; and electrolyte imbalance including hypernatremia, hypokalemia, hypophosphatemia, and chronic illness. ODS caused by rapid correction of hyperammonemia or continuous hyperbilirubinemia without sodium fluctuations has rarely been reported. Because ODS may be irreversible, prevention is crucial. Herein, we report a case of ODS secondary to rapid correction of hyperammonemia and continuous hyperbilirubinemia.

Cut-Off Value of Voluntary Peak Cough Flow in Patients with Parkinson's Disease and Its Association with Severe Dysphagia: A Retrospective Pilot Study.

Background and Objectives. Swallowing and coughing reflexes are both closely associated with airway protection. Peak cough flow (PCF) is associated with dysphagia in several neurogenic diseases. In this study, we aimed to analyze the relationship between PCF and aspiration in Parkinson's disease (PD) and determine the cut-off value of PCF. Materials and Methods. We retrospectively analyzed the records of patients with PD who underwent a videofluoroscopic swallowing study and checked for PCF. A total of 219 patients were divided into an aspiration group (n = 125) and a non-aspiration group (n = 94). Results. Significantly lower PCF values were observed in the aspiration group compared to the non-aspiration group (132.63 ± 83.62 vs. 181.38 ± 103.92 L/min, p < 0.001). Receiver operating characteristic curve analysis revealed that a PCF cut-off value of 153 L/min (area under the receiver operating characteristic curve, 0.648; sensitivity, 73.06%; specificity, 51.06%) was associated with aspiration in PD. Additionally, a univariate analysis showed that the male sex, lower body mass indexes, higher Hoehn and Yahr scales, and PCF values of ≤153 L/min indicated an increased risk of aspiration. Conclusions. Through a multivariate analysis, we demonstrated that a PCF value ≤153 L/min was associated with an increased risk of aspiration (odds ratio 3.648; 1.797-7.407), highlighting that a low PCF is a risk factor for aspiration in patients with PD.

Multi-millijoule terahertz emission from laser-wakefield-accelerated electrons.

High-power terahertz radiation was observed to be emitted from a gas jet irradiated by 100-terawatt-class laser pulses in the laser-wakefield acceleration of electrons. The emitted terahertz radiation was characterized in terms of its spectrum, polarization, and energy dependence on the accompanying electron bunch energy and charge under various gas target conditions. With a nitrogen target, more than 4 mJ of energy was produced at <10 THz with a laser-to-terahertz conversion efficiency of ~0.15%. Such strong terahertz radiation is hypothesized to be produced from plasma electrons accelerated by the ponderomotive force of the laser and the plasma wakefields on the time scale of the laser pulse duration and plasma period. This model is examined with analytic calculations and particle-in-cell simulations to better understand the generation mechanism of high-energy terahertz radiation in laser-wakefield acceleration.

INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Mutations in INF2 are associated with the complex symptoms of Charcot-Marie-Tooth disease (CMT) and focal segmental glomerulosclerosis (FSGS). To date, more than 100 and 30 genes have been reported to cause these disorders, respectively. This study aimed to identify INF2 mutations in Korean patients with CMT. This study was conducted with 743 Korean families with CMT who were negative for PMP22 duplication. In addition, a family with FSGS was included in this study. INF2 mutations were screened using whole exome sequencing (WES) and filtering processes. As the results, four pathogenic INF2 mutations were identified in families with different clinical phenotypes: p.L78P and p.L132P in families with symptoms of both CMT and FSGS; p.C104Y in a family with CMT; and p.R218Q in a family with FSGS. Moreover, different CMT types were observed in families with CMT symptoms: CMT1 in two families and Int-CMT in another family. Hearing loss was observed in two families with CMT1. Pathogenicity was predicted by in silico analyses, and considerable conformational changes were predicted in the mutant proteins. Two mutations (p.L78P and p.C104Y) were unreported, and three families showed de novo mutations that were putatively occurred from fathers. This study suggests that patients with INF2 mutations show a broad phenotypic spectrum: CMT1, CMT1 + FSGS, CMTDIE + FSGS, and FSGS. Therefore, the genotype-phenotype correlation may be more complex than previously recognized. We believe that this study expands the clinical spectrum of patients with INF2 mutations and will be helpful in the molecular diagnosis of CMT and FSGS.

Long-Term Effects of Extracorporeal Shock Wave Therapy on Breast Cancer-Related Lymphedema.

Extracorporeal shock wave therapy (ESWT) can reduce breast cancer-related lymphedema (BCRL). However, evidence of the long-term effectiveness of ESWT on BCRL is sparse. The aim of the study was to investigate whether ESWT has long-term effects on BCRL. We enrolled patients with stage 2 lymphedema. The 28 female patients were randomly divided into the ESWT group (n = 14) and the control group (n = 14). ESWT was applied thrice a week for a total of 3 weeks with an intensity of 0.056 to 0.068 mJ/mm2 and a frequency of 4 Hz. Complex decongestive therapy (CDT) was applied in both groups. The arm circumference, fluid volume, ratio of water content, and skin thickness were measured. Patients were evaluated at before treatment, 3 weeks after ESWT completion, and 3 months post-ESWT completion. The ESWT group, the circumference of the whole arm, volume, ratio of water content, QuickDASH score, and skin thickness showed statistically significant improvement at 3 weeks and 3 months post-treatment. When comparing the changes in measurement between the two groups at 3 weeks and 3 months post-treatment, ESWT group showed statistically significant improvement in circumference (cm) below the elbow, ratio of water content and skin thickness at 3 weeks and 3 months post treatment. Overall, ESWT improved lymphedema in patients with stage 2 BCRL, and the effects persisted for at least 3 months. Therefore, ESWT may be an additional treatment method for patients with lymphedema.

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (CMT1E) or HNPP. This study was performed to identify PMP22 mutations and to analyze the genotype−phenotype correlation in Korean CMT families. By the application of whole-exome sequencing (WES) and targeted gene panel sequencing (TS), we identified 14 pathogenic or likely pathogenic PMP22 mutations in 21 families out of 850 CMT families who were negative for 17p12 (PMP22) duplication. Most mutations were located in the well-conserved transmembrane domains. Of these, eight mutations were not reported in other populations. High frequencies of de novo mutations were observed, and the mutation sites of c.68C>G and c.215C>T were suggested as the mutational hotspots. Affected individuals showed an early onset-severe phenotype and late onset-mild phenotype, and more than 40% of the CMT1E patients showed hearing loss. Physical and electrophysiological symptoms of the CMT1E patients were more severely damaged than those of CMT1A while similar to CMT1B caused by MPZ mutations. Our results will be useful for the reference data of Korean CMT1E and the molecular diagnosis of CMT1 with or without hearing loss.

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.

BACKGROUND: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. Until now, only a few studies have reported the clinical features of CMT1C. OBJECTIVE: This study was performed to find CMT1C patients with mutation of LITAF in a Korean CMT cohort and to characterize their clinical features. METHODS: In total, 1,143 unrelated Korean families with CMT were enrolled in a cohort. We performed whole exome sequencing to identify LITAF mutations, and examined clinical phenotypes including electrophysiological and MRI features for the identified CMT1C patients. RESULTS: We identified 10 CMT1C patients from three unrelated families with p.G112S mutation in LITAF. The frequency of CMT1C among CMT1 patients was 0.59%, which is similar to reports from Western populations. CMT1C patients showed milder symptoms than CMT1A patients. The mean CMT neuropathy score version 2 was 7.7, and the mean functional disability scale was 1.0. Electrophysiological findings showed a conduction block in 22% of affected individuals. Lower extremity MRIs showed that the superficial posterior and anterolateral compartments of the calf were predominantly affected. CONCLUSIONS: We found a conduction block in Korean CMT1C patients with p.G112S mutation and first described the characteristic MRI findings of the lower extremities in patients with LITAF mutation. These findings will be helpful for genotype-phenotype correlation and will widen understanding about the clinical spectrum of CMT1C.

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in the neurofilament light polypeptide (NEFL) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020, 1,143 Korean CMT families underwent gene sequencing, and we investigated the clinical, genetic, and neuroimaging spectra of NEFL-related CMT patients. Ten NEFL mutations in 17 families (1.49%) were identified, of which three (p.L312P, p.Y443N, and p.K467N) were novel. Eight de novo cases were identified at a rate of 0.47 based on a cosegregation analysis. The age of onset was ≤3 years in five cases (13.5%). The patients revealed additional features including delayed walking, ataxia, dysphagia, dysarthria, dementia, ptosis, waddling gait, tremor, hearing loss, and abnormal visual evoked potential. Signs of ataxia were found in 26 patients (70.3%). In leg MRI analyses, various degrees of intramuscular fat infiltration were found. All compartments were evenly affected in CMT1F patients. The anterior and anterolateral compartments were affected in CMT2E, and the posterior compartment was affected in CMTDIG. Thus, NEFL-related CMT patients showed phenotypic heterogeneities. This study's clinical, genetic, and neuroimaging results could be helpful in the evaluation of novel NEFL variants and differential diagnosis against other CMT subtypes.

Myelin Oligodendrocyte Glycoprotein-Immunoglobulin G in the CSF: Clinical Implication of Testing and Association With Disability.

BACKGROUND AND OBJECTIVE: To investigate the clinical relevance of CSF myelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG) testing in a large multicenter cohort. METHODS: In this multicenter cohort study, paired serum-CSF samples from 474 patients with suspected inflammatory demyelinating disease (IDD) from 11 referral hospitals were included. After serum screening, patients were grouped into seropositive myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD, 31), aquaporin-4-IgG-positive neuromyelitis optica spectrum disorder (AQP4-IgG + NMOSD, 60), other IDDs (217), multiple sclerosis (MS, 45), and non-IDDs (121). We then screened CSF for MOG-IgG and compared the clinical and serologic characteristics of patients uniquely positive for MOG-IgG in the CSF to seropositive patients with MOGAD. RESULTS: Nineteen patients with seropositive MOGAD (61.3%), 9 with other IDDs (CSF MOG + IDD, 4.1%), 4 with MS (8.9%), but none with AQP4-IgG + NMOSD nor with non-IDDs tested positive in the CSF for MOG-IgG. The clinical, pathologic, and prognostic features of patients uniquely positive for CSF MOG-IgG, with a non-MS phenotype, were comparable with those of seropositive MOGAD. Intrathecal MOG-IgG synthesis, observed from the onset of disease, was shown in 12 patients: 4 of 28 who were seropositive and 8 who were uniquely CSF positive, all of whom had involvement of either brain or spinal cord. Both CSF MOG-IgG titer and corrected CSF/serum MOG-IgG index, but not serum MOG-IgG titer, were associated with disability, CSF pleocytosis, and level of CSF proteins. DISCUSSION: CSF MOG-IgG is found in IDD other than MS and also in MS. In IDD other than MS, the CSF MOG-IgG positivity can support the diagnosis of MOGAD. The synthesis of MOG-IgG in the CNS of patients with MOGAD can be detected from the onset of the disease and is associated with the severity of the disease. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that the presence of CSF MOG-IgG can improve the diagnosis of MOGAD in the absence of an MS phenotype, and intrathecal synthesis of MOG-IgG was associated with increased disability.

Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.

Charcot-Marie-Tooth disease (CMT) and related diseases are a genetically and clinically heterogeneous group of peripheral neuropathies. Particularly, mutations in several aminoacyl-tRNA synthetase (ARS) genes have been reported to cause axonal CMT (CMT2) or distal hereditary motor neuropathy (dHMN). However, the common pathogenesis among CMT subtypes by different ARS gene defects is not well understood. This study was performed to investigate ARS gene mutations in a CMT cohort of 710 Korean families. Whole-exome sequencing was applied to 710 CMT patients who were negative for PMP22 duplication. We identified 12 disease-causing variants (from 13 families) in GARS1, AARS1, HARS1, WARS1, and YARS1 genes. Seven variants were determined to be novel. The frequency of overall ARS gene mutations was 1.22% among all independent patients diagnosed with CMT and 1.83% in patients negative for PMP22 duplication. WARS1 mutations have been reported to cause dHMN; however, in our patients with WARS1 variants, CMT was associated with sensory involvement. We analyzed genotype-phenotype correlations and expanded the phenotypic spectrum of patients with CMT possessing ARS gene variants. We also characterized clinical phenotypes according to ARS genes. This study will be useful for performing exact molecular and clinical diagnoses and providing reference data for other population studies.

Risk Factors for Depressive Symptoms in Korean Adult Stroke Survivors: The Korea National Health and Nutrition Examination Survey IV-VII (2007-2018).

Depressive symptoms are common in stroke survivors, and they are associated with poor outcomes. Therefore, this study aimed to investigate the depressive symptoms in stroke survivors and the risk factors for depressive symptoms in stroke survivors. We included 33,991 participants who were 19 years or older and had completed a questionnaire about the history of stroke from the Korea National Health and Nutrition Examination Survey (KNHANES) IV-VII (from 2007 to 2018). The mean Patient Health Questionnaire-9 score and the prevalence of major depression, depressive symptoms, antidepressant treatment, suicidal ideation, and suicide attempts were significantly higher in stroke survivors than in non-stroke participants (4.4 vs. 2.6, 16.2% vs. 5.3%, 24.7% vs. 9.3%, 3.8% vs. 1.4%, 21.7% vs. 4.8%, and 2.5% vs. 0.6%, respectively, all p < 0.001). Complex sample multivariate logistic regression analysis revealed that the female sex, unemployment, a low education level, a low family income, and activity limitations were independent risk factors for depressive symptoms in stroke survivors. Activity limitations showed the highest odds ratio among the independent factors, and its causes were further analyzed. The most common causes of activity limitations were stroke sequelae and musculoskeletal problems. To reduce depressive symptoms in stroke survivors, attention needs to be paid to minimizing stroke sequelae and musculoskeletal problems along with regular screening for depressive symptoms.

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations.

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the GNB4 gene cause dominant intermediate CMT type F (CMTDIF). The aim of this study is to investigate phenotypic heterogeneities and characteristics of CMT patients with GNB4 mutations. We enrolled 1143 Korean CMT families and excluded 344 families with a PMP22 duplication. We further analyzed the 799 remaining families to find their GNB4 mutations using whole-exome sequencing (WES). We identified two mutations (p.Gly77Arg and p.Lys89Glu) in three families, among which a heterozygous p.Gly77Arg mutation was novel. In addition, a significant uncertain variant (p.Thr177Asn) was observed in one family. The frequency of the GNB4 mutation in the Korean population is 0.38% in PMP22 duplication-negative families. All three families showed de novo mutation. Electrophysiological findings regarding the p.Lys89Glu mutation showed that the motor nerve conduction velocity (MNCV) of the median nerve was markedly reduced, indicating demyelinating neuropathy, and sural nerve biopsy revealed severe loss of myelinated axons with onion bulb formation. Lower extremity Magnetic Resonance Imaging (MRI) demonstrated relatively more severe intramuscular fat infiltrations in demyelinating type (p.Lys89Glu mutation) patients compared to intermediate type (p.Gly77Arg mutation) patients. The anterolateral and superficial posterior compartment muscles of the distal calf were preferentially affected in demyelinating type patients. Therefore, it seems that the investigated GNB4 mutations do cause not only the known intermediate type but also demyelinating-type neuropathy. We first presented three Korean families with GNB4 mutations and found phenotypic heterogeneities of both intermediate and demyelinating neuropathy. We suggest that those findings are useful for the differential diagnosis of CMT patients with unknown GNB4 variants.

Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common disorder of inherited peripheral neuropathies characterized by distal muscle weakness and sensory loss. CMT is usually classified into three types, demyelinating, axonal, and intermediate neuropathies. Mutations in myelin protein zero (MPZ) gene which encodes a transmembrane protein of the Schwann cells as a major component of peripheral myelin have been reported to cause various type of CMT. METHODS: This study screened MPZ mutations in Korean CMT patients (1,121 families) by whole exome sequencing and targeted sequencing. RESULTS: We identified 22 pathogenic or likely pathogenic MPZ mutations in 36 families as the underlying cause of the CMT1B, CMTDID, or CMT2I subtypes. Among them, five mutations were novel. The frequency of CMT patients with the MPZ mutations was similar or slightly lower compared to other ethnic groups. CONCLUSIONS: We showed that the median onset ages and clinical phenotypes varied by subtypes: the most severe in the CMT1B group, and the mildest in the CMT2I group. This study also observed a clear correlation that earlier onsets cause more severe symptoms. We believe that this study will provide useful reference data for genetic and clinical information on CMT patients with MPZ mutations in Korea.

Prosthetic treatment combined with speech therapy improved pronunciation problems caused by palatal incompetence: A case report.

This is a case report of a patient with soft palate muscle weakness that caused difficulties with phonation. A provisional palatal lift prosthesis (PLP) was developed, and the patient underwent simultaneous speech therapy. The elevation level of the palatal lift was subjectively assessed along with nasalance analysis and the Urimal Test of Articulation and Phonation results. The final PLP was applied to improve comfort and efficiency, and the patient continually underwent regular speech therapy. The patient showed satisfactory improvement in speech and pronunciation. PLP development combined with speech therapy can improve the accuracy of pronunciation in patients with palatal incompetence, thereby improving quality of life.

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations.

BACKGROUND AND PURPOSE: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) are known to cause Charcot-Marie-Tooth disease (CMT). These mutations are very rare in most countries, but not in certain Mediterranean countries. The purpose of this study was to identify the clinical and neuroimaging characteristics of Korean CMT patients with GDAP1 mutations. METHODS: Gene sequencing was applied to 1,143 families in whom CMT had been diagnosed from 2005 to 2020. PMP22 duplication was found in 344 families, and whole-exome sequencing was performed in 699 patients. Magnetic resonance imaging (MRI) were obtained using either a 1.5-T or 3.0-T MRI system. RESULTS: We found ten patients from eight families with GDAP1 mutations: five with autosomal dominant (AD) CMT type 2K (three families with p.R120W and two families with p.Q218E) and three with autosomal recessive (AR) intermediate CMT type A (two families with homozygous p.H256R and one family with p.P111H and p.V219G mutations). The frequency was about 1.0% exclusive of the PMP22 duplication, which is similar to that in other Asian countries. There were clinical differences among AD GDAP1 patients according to mutation sites. Surprisingly, fat infiltrations evident in lower-limb MRI differed between AD and AR patients. The posterior-compartment muscles in the calf were affected early and predominantly in AD patients, whereas AR patients showed fat infiltration predominantly in the anterolateral-compartment muscles. CONCLUSIONS: This is the first cohort report on Korean patients with GDAP1 mutations. The patients with AD and AR inheritance routes exhibited different clinical and neuroimaging features in the lower extremities. We believe that these results will help to expand the knowledge of the clinical, genetic, and neuroimaging features of CMT.

Short hairpin RNA treatment improves gait in a mouse model of Charcot­Marie­Tooth disease type 1A.

Charcot­Marie­Tooth disease (CMT) is the most common inherited neurological disorder of the peripheral nervous system. The major subtype, CMT type 1A (CMT1A), accounts for ~40% of CMT cases and is characterized by distal muscle atrophy and gait disturbances. Short hairpin (sh) RNA sequences are potentially advantageous therapeutic tools for distal muscle atrophy­induced gait disturbance. Therefore, the current study focused on the effects of an optimal shRNA injection using the myostatin (mstn) gene inhibition system. shLenti­Mstn A demonstrated significant suppression of endogenous mstn gene expression (>40%) via RT­qPCR following direct injection into the gastrocnemius and rectus femoris of the hind limb in C22 mice. The results also reported that shLenti­Mstn A treatment increased muscle mass and size of the hind limbs compared with mock­treated mice via measurement of the mass of injected muscles and magnetic resonance imaging study. Furthermore, electrophysiological measurement using a Nicolet Viking Quest device revealed significantly improved compound muscle action potential (CMAP) in shLenti­Mstn A­treated mice compared with the mock group (P<0.05) whereas nerve conduction velocity (NCV) showed no difference between groups. The shLenti­Mstn A treatment directly affected increased muscle regeneration, including mass and size, but not regeneration of peripheral nerve. Additionally, shLenti­Mstn A treatment significantly enhanced mobility, including locomotor coordination (P<0.01) and grip strength of the hindlimbs (P<0.01). Furthermore, MotoRater analysis using real­time recording with a high­speed camera revealed that shLenti­Mstn­treated mice exhibited an improved walking pattern in terms of step length, base support and duty factor compared with the mock group. It was hypothesized that treatment with shLenti­Mstn A may provide a novel therapeutic strategy for improving gait in patients with CMT1A.

Effects of Extracorporeal Shockwave Therapy on Improvements in Lymphedema, Quality of Life, and Fibrous Tissue in Breast Cancer-Related Lymphedema.

OBJECTIVE: To evaluate the effects of extracorporeal shockwave therapy (ESWT) on improving lymphedema, quality of life, and fibrous tissue in patients with stage 2 lymphedema. METHODS: Breast cancer-related lymphedema patients referred to the rehabilitation center were recruited. We enrolled stage 2 lymphedema patients who had firmness of the skin at their forearm, a circumference difference of more than 2 cm between each arm, or a volume difference between upper extremities greater than 200 mL, confirmed by lymphoscintigraphy. The patients were randomly divided into the ESWT group and the control group. ESWT was performed for 3 weeks (two sessions per week); both groups received complex decongestive physical therapy. All patients were evaluated at baseline and at 3 weeks after treatment. The measurements performed included visual analog scale score, volume, circumference, QuickDASH (Quick Disabilities of the Arm, Shoulder and Hand) score, bioelectrical impedance, and skin thickness. RESULTS: The patients in both groups (n=15 in each group) completed the 3-week therapy experiment. No significant differences were observed in demographic characteristics between groups. After the 3-week treatment period, improvement was noted in the circumference difference below the elbow, volume, ratio of extracellular water to total body water, and skin thickness in the ESWT group. A significant difference was found in all the above-mentioned areas except in circumference below the elbow in the ESWT group. CONCLUSION: ESWT reduced edema and skin fibrosis without significant complications. Therefore, ESWT can be used together with complex decongestive physical therapy for treating lymphedema.