The effect of extracorporeal shock wave therapy on large neurogenic heterotopic ossification in a patient with pontine hemorrhage: A case report and literature review.

RATIONALE: Heterotopic ossification (HO), an ectopic bone formation in soft tissue around the joint, is a complication observed in stroke patients. HO around the hip joint causes a reduction in the functional ability of patients by generating pain and limiting range of motion (ROM). In addition, it results in impaired mobility, ultimately affecting quality of life and increasing the mortality of patients. Extracorporeal shock wave therapy (ESWT) has demonstrated efficacy in treating soft tissue inflammation and has been used to reduce patients' pain in HO. However, almost none of the studies reported degradation in the size of HO on images obtained before and after ESWT application. PATIENT CONCERNS AND DIAGNOSIS: We report a case of a 36-year-old man who developed HO around both hip joints 3 months after bilateral pontine hemorrhage. INTERVENTIONS: Seven months after HO development, ESWT was administered to the area of HO every other day for a total of 10 sessions. OUTCOMES: Immediately following treatment, the ROM of both hip joints increased. Thus the patient was able to maintain a sitting posture without having to be bound to the wheelchair. In addition, the tolerable sitting time before groaning increased from less than ten minutes to almost 60 minutes by the end of all ESWT sessions. Unlike other previous reports, a diminished HO size was confirmed by comparing plain X-rays and bone scans obtained before and after treatment sessions. LESSONS: In this case, we report an objective size reduction in HO in radiologic findings after applying ESWT to both hips. ESWT is a safe, easy-to-apply, and noninvasive modality. We would like to emphasize the use of ESWT as a treatment option for HO to decrease the extent of HO, as well as to improve pain, spasticity and function in patients with stroke.

The Effect of Branched Chain Amino Acid Supplementation on Stroke-Related Sarcopenia.

Background: Stroke-related sarcopenia is caused by various factors, such as brain damage, systemic catabolic state, skeletal muscle imbalance, and malnutrition. In the long-term care plan after stroke, appropriate rehabilitation strategies to achieve maximum functional improvement and prevent the development of sarcopenia are important. This study has investigated the effect of branched-chain amino acid (BCAA) supplementation on sarcopenia after stroke. We also evaluated the effect of BCAA on functional improvement during the intensive rehabilitation period. Methods: Patients with subacute stroke with stroke-related disabilities were enrolled and given dietary supplement powder containing BCAAs for 1 month. These BCAAs were supplied through the nutrition team during feeding time. Patients whose age, sex, and stroke lesions were similar to those of the study group were enrolled in the control group through medical record review. Both groups received personalized intensive inpatient rehabilitation therapy in a single-unit rehabilitation center. All patients' target calories were calculated regularly by the nutritional support team in our institution. Sarcopenia status was evaluated using grip strength and the skeletal muscle index (SMI), which was assessed by dual-energy X-ray absorptiometry (DEXA). The functional status associated with stroke was evaluated every month, including activities of daily living, balance, gait, and swallowing. Results: A total of 54 patients were enrolled, with 27 patients in each of the two groups. The study group showed significantly greater improvement in SMI after intervention than the control group. Both groups improved functionally over time, but the improvement in the study group was significantly greater than that in the control group. Univariate analysis revealed that patients with better functional status had a greater SMI with a combination of BCAA supplementation and intensive rehabilitation therapy. Conclusion: Our results showed a positive effect of BCAA supplementation on sarcopenia after stroke. We also found that nutritional support helps functional improvement during neurological recovery. These results suggest that comprehensive rehabilitation intervention combined with BCAA supplementation could be a helpful option during the critical period of post-stroke neurological recovery.

Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy.

INTRODUCTION: Bethlem myopathy is a kind of collagen VI related myopathy which affects proximal skeletal muscles and leads to gait disturbance and multiple joint contractures with an onset in the first two decades of life. Lung function impairment (respiratory muscle and diaphragmatic weakness, ventilatory restriction, hypoxaemia and hypercapnia) and respiratory failure are part of the clinical spectrum and can occur in ambulatory patients. METHODOLOGY: We carried out whole exome sequencing (WES) in combination with neuromuscular diseases-associated genes-filtering to detect the possible causative mutation(s) in a Korean family with Bethlem myopathy. An electrodiagnostic study showed myopathic pattern (normal nerve conduction study, and early recruitment and short amplitude muscle unit action potentials) in the proband. RESULTS: Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) was identified by WES in the proband only: heterozygous missense mutations of the COL6A1 (NM_001848.2: c.823G > T, p.Gly275Trp; rs1556425467) and of the COL6A3 genes (NM_004369.3: c.9349G > A, p.Asp3117Asn; rs1226664855). COL6A3 mutation may be candidate as disease-associated variant, as far as it was found only in the proband harboring another heterozygous mutation in COL6A1 gene, previously reported as different pathogenic mutations (p.Gly275Arg and p.Gly275Glu) at the same codon in Bethlem myopathy. CONCLUSION: Our findings suggest that the coexistence of these digenic mutations is rare, but it may be used for the risk evaluation of individuals with a possible susceptibility to Bethlem myopathy. Taken together, genetic diagnosis using WES is a useful approach for the identification of pathogenic mutations associated with Bethlem myopathy.

A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy.

INTRODUCTION: Emery-Dreifuss muscular dystrophy (EDMD) also known as humeroperoneal muscular dystrophy, is a skeletal myopathy characterized by the clinical triad of progressive muscular weakness, joint contractures, and cardiac disease. METHODOLOGY: Herein, we reported a family including two patients (the proband and his son) affected with progressive muscular dystrophy manifested by joint contractures without cardiac involvement ("EDMD-like" phenotype). Interestingly, electodiagnostic study results of the proband showed a neuropathic pattern different from the myopathic pattern in most muscular dystrophy patients. To identify the underlying genetic cause, genomic DNA of the proband was analyzed by WES using Agilent's SureSelect XT Human All Exon v5. RESULTS: A novel de novo pathogenic heterozygous missense mutation (NM_182914.2: c.4858G > A; p.Ala1620Thr) of the SYNE2 gene, which had not been previously reported was identified by whole exome sequencing in the proband and by Sanger sequencing in his son. CONCLUSION: To the best knowledge, SYNE2 mutation was reported first by whole exome sequencing in a Korean family with EDMD-like features. We emphasized the role of genetic analysis using whole exome sequencing, which allows the correct recognition of this molecular diagnosis and brings together the neuromuscular spectrum of this complex clinical scenario, leading to proper clinical management.

The therapeutic effect and complications of oro-esophageal tube training in stroke patients.

Background: Patients with severe dysphagia after stroke are usually fed using a nasogastric tube. However, this method is inconvenient and causes complications. The oro-esophageal (OE) tube has been used as an alternative parenteral feeding method for patients for whom safe oral feeding is impossible. This study aimed to evaluate the therapeutic effects and complications of OE tube feeding in stroke patients with dysphagia. Methods: This study was designed as a retrospective medical chart review of dysphagic stroke patients who were recommended for OE tube feeding. Thirty-eight stroke patients were recommended for OE tube feeding according to videofluoroscopic swallowing study (VFSS) findings. Of those patients, 17 received OE tube feeding training and conventional dysphagia therapy. Follow-up VFSSs were performed sequentially based on the patients' conditions. When a patient was able to swallow therapeutic foods with specific viscosities during the VFSS, oral feeding was considered to be initiated. Patients were divided into two groups according to final feeding methods. Results: Seventeen patients attempted OE tube feeding. Among them, 64.7% of the patients could change to full oral feeding at their follow-up VFSS evaluation. Additionally, 70.6% of the patients showed gastroesophageal reflux disease regardless of whether they changed to oral feeding. On individual items of the Functional Dysphagia Scale, both groups showed significant improvements in the triggering of pharyngeal swallowing, the amount of residue, and the pharyngeal transit time. These functions were better improved in the patients who could change to oral feeding than in those who could not. Both groups showed significant aggravation of nasal penetration. Conclusion: Our study quantitatively shows the therapeutic effects and complications of OE tube training. OE tube feeding can facilitate the swallowing process and assist patients in transitioning to oral feeding. This easy-to-apply technique may significantly impact future treatment strategies in stroke patients with severe dysphagia.

Efficacy of Repeated Botulinum Toxin Type A Injections for Spastic Equinus in Children with Cerebral Palsy-A Secondary Analysis of the Randomized Clinical Trial.

Botulinum toxin A is considered an important tool to control spasticity in children with cerebral palsy. Several factors are known to affect the efficacy of botulinum toxin, such as dosage, appropriate muscle selection and application, age, and accompanying therapy. A multicenter, double-blind, randomized, prospective phase III clinical trial of botulinum toxin A for the treatment of dynamic equinus in 144 children with cerebral palsy was performed to compare the efficacies of letibotulinumtoxin A and onabotulinumtoxin A. Secondary analyses were performed to evaluate factors that affected the outcome, focusing on the number of times injections were repeated. Effectiveness was defined as a change of 2 or more in the physician's rating scale. Multivariate regression analyses were performed with multiple variables. The first injection of botulinum toxin A significantly improved D subscale of Gross Motor Function Measure-88 scores at 3 months compared to repeated injections (p < 0.05). After 6 months, patients who had one injection or none before the study showed significantly better outcomes than those who had more than one injection in terms of observational gait scores.

Efficacy and Safety of Letibotulinum Toxin A for the Treatment of Dynamic Equinus Foot Deformity in Children with Cerebral Palsy: A Randomized Controlled Trial.

The objective of this clinical trial was to compare the efficacy and safety of letibotulinum toxin A and onabotulinum toxin A for improving dynamic equinus foot deformity in children with cerebral palsy (CP). In total, 144 children with spastic CP who had dynamic equinus foot deformity were assigned randomly to the Botulax group (injection of letibotulinum toxin A) or the Botox group (injection of onabotulinum toxin A). The Physician's Rating Scale (PRS), ankle plantar flexor spasticity using the Modified Tardieu Scale, the Gross Motor Function Measure (GMFM)-88, and the GMFM-66 were completed before injection and at 6, 12, and 24 weeks after injection. The PRS responder rate was 60.27% in the Botulax group and 61.43% in the Botox group at 12 weeks after treatment, and the lower limit of the 95% confidence interval for the between-group difference in responder rates was -17.16%, higher than the non-inferiority margin of -24.00%. The clinical efficacy and the safety profiles of the groups did not significantly differ. The results suggest that injection of letibotulinum toxin A is as effective and safe as that of onabotulinum toxin A for the treatment of dynamic equinus foot deformity in children with spastic CP.

Occurrence of Intestinal Pseudo-obstruction in a Brainstem Hemorrhage Patient.

Intestinal pseudo-obstruction is a massive colonic dilation with signs and symptoms of colonic obstruction, but without a mechanical cause. A 49-year-old female patient complained of nausea, vomiting, and abdominal distension 1 month after a massive brainstem hemorrhage. No improvement was seen with conservative treatments. An extended-length rectal tube was inserted to perform glycerin enema. In addition, bethanechol (35 mg per day) was administered to stimulate colonic motility. The patient's condition gradually improved over a 2-month period without any surgical intervention. Extended length rectal tube enema and bethanechol can be used to improve intestinal pseudo-obstruction in stroke patients.

Abduction motion analysis of hemiplegic shoulders with a fluoroscopic guide.

PURPOSE: We investigated the usefulness of video based, fluoroscopically guided abduction motion analysis of hemiplegic shoulders. PATIENTS AND METHODS: Twenty-two stroke patients with Brunnstrom stages 3-4 (Group 1) or 5-6 (Group 2) were enrolled in this study. Patients with shoulder pain and significant spasticity (MAS 2) were excluded. We recorded motion pictures of the abductions of affected and unaffected shoulder joints under an AP fluoroscopic guide. Lateral scapular slide distances (D1: T2- superior angle, D2: T3- scapular spine, D3: T7-inferior angle) were measured at 30 degrees , 60 degrees , 90 degrees during glenohumeral abduction in a captured photographic image. The angles of scapular rotation and trajectory (stromotion) of the humeral head center, relative to the 3rd thoracic spine in the abduction motion were analyzed. RESULTS: In Group 1, a significant difference was found in the lateral scapular slide distance between the affected and sound sides. However, no significant side to side difference was found in Group 2. Scapular angles in abduction were also increased in Group 1. Patients with a more synergistic movement pattern showed less scapular stabilizing muscle activity and, instead, exhibited a compensatory ''shrugging'' like motion accomplished by spinal tilting. CONCLUSION: The present findings support the notion that the above parameters of fluoroscopically guided shoulder abduction motion analysis correlate well with clinical findings. These parameters should be useful for evaluations of hemiplegic shoulder biomechanics.