• Journal of Yeungnam Medical Science
• /
• v.37 no.2
• /
• pp.84-89
• /
• 2020

Spinal pain is a common patient complaint in clinical practice. Conservative treatment methods include oral medication, physical therapy, injections, and spinal orthoses. The clinical application of orthoses is debated because of potential complications associated with long-term use, such as muscle weakness and joint contracture. We reviewed the orthoses most frequently used to manage spinal pain. We review the use of soft cervical and Philadelphia collars, lumbosacral corsets, and thoracolumbosacral orthosis to manage spinal pain. Spinal orthoses can help reduce pain by protecting the muscles and joints of the injured spinal region, preventing or correcting malformations, and limiting trunk flexion, extension, lateral flexion, and rotation. The short-term use of spinal orthoses is known to improve pain and disability during the treatment period without significant adverse effects. Spinal orthoses are expected to alleviate pain and improve patients' lifestyle.

• The Korean journal of internal medicine
• /
• v.33 no.6
• /
• pp.1058-1069
• /
• 2018

Neuropathic cancer pain (NCP) is caused by nerve damage attributable to the cancer per se, and/or treatments including chemotherapy, radiotherapy, and surgery; the prevalence is reported to be as high as 40%. The etiologies of NCP include direct nerve invasion or nerve compression by the cancer, neural toxicity, chemotherapy, and radiotherapy. NCP is subdivided into plexopathy, radiculopathy, and peripheral neuropathies, among several other categories. The clinical characteristics of NCP differ from those of nociceptive pain in terms of both the hypersensitivity symptoms (burning, tingling, and an electrical sensation) and the hyposensitivity symptoms (numbness and muscle weakness). Recovery requires several months to years, even after recovery from injury. Management is complex; NCP does not usually respond to opioids, although treatments may feature both opioids and adjuvant drugs including antidepressants, anticonvulsants, and anti-arrhythmic agents, all of which improve the quality-of-life. This review addresses the pathophysiology, clinical characteristics and management of NCP, and factors rendering pain control difficult.

• Journal of Interdisciplinary Genomics
• /
• v.1 no.1
• /
• pp.1-5
• /
• 2019

Progressive weakness of skeletal muscle is the hallmark of muscular dystrophies. It is often accompanied by cardiomyopathy and respiratory insufficiency. It has generally been perceived as incurable diseases, while the advent of genetic therapy is changing the paradigm. Most research and achievements have been for the treatment of Duchenne muscular dystrophy, while it is promising to hope for therapies for other myopathies. Drugs for nonsense read-through and exon skipping are already approved for clinical use in Europe and the United States, respectively. Gene therapy using adeno-associated virus is in early phase of clinical trial. In this review, most promising genetic therapies will be briefly described.

• Journal of Genetic Medicine
• /
• v.18 no.2
• /
• pp.83-93
• /
• 2021

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal CMT type 2 (CMT2) neuropathy. CMT1 can be distinguished by assessing the median motor nerve conduction velocity as greater than 38 m/s. The main clinical features of axonal CMT2 neuropathy are distal muscle weakness and loss of sensory and areflexia. In addition, they showed unusual clinical features, including delayed development, hearing loss, pyramidal signs, vocal cord paralysis, optic atrophy, and abnormal pupillary reactions. Recently, customized treatments for genetic diseases have been developed, and pregnancy diagnosis can enable the birth of a normal child when the causative gene mutation is found in CMT2. Therefore, accurate diagnosis based on genotype/phenotypic correlations is becoming more important. In this review, we describe the latest findings on the phenotypic characteristics of axonal CMT2 neuropathy. We hope that this review will be useful for clinicians in regard to the diagnosis and treatment of CMT.

• Annals of Clinical Neurophysiology
• /
• v.24 no.2
• /
• pp.90-92
• /
• 2022

AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness. Whole-exome sequencing revealed a common missense mutation (p.Asp214Tyr) in GSN. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.

• Journal of Dental Anesthesia and Pain Medicine
• /
• v.22 no.6
• /
• pp.451-455
• /
• 2022

Glycogen storage disease (GSD) is a group of inherited disorders, which result in the deficiency of enzymes involved in glycogen metabolism, leading to an accumulation of glycogen in various organs. Deficiency of amylo-1-6-glicosidase (debranching enzyme) causes glycogen storage disease type III (GSD III). The main problems that anesthesiologists face in patients with GSD III include hypoglycemia, muscle weakness, delayed awakening due to abnormal liver function, possible difficulty in airway, and cardiomyopathy. In the face of these difficulties, airway preparation and appropriate glucose monitoring and support during the fasting period are important. The doses of the drugs to be used should be calculated considering the increased volume of distribution and decreased metabolic activity of the liver. We present the case of a child with GSD IIIa who underwent dental prosedation under general anesthesia. She was also being prepared for liver transplantation. This case was additionally complicated by the patient's serious allergic reaction to eggs and milk.

• Clinics in Shoulder and Elbow
• /
• v.24 no.3
• /
• pp.178-182
• /
• 2021

A 50-year-old woman who had been previously diagnosed with systemic lupus erythematosus consulted our clinic for pain and weakness in her right shoulder. On examination, she had an atrophied deltoid muscle, a painful right shoulder on movement, and a tender mass in the deltoid area. The patient was diagnosed with corticosteroid-induced deltoid myopathy, shoulder pain, and loss of range of motion that did not resolve with conservative treatment. We decided to perform reverse shoulder arthroplasty. No complications were observed at the last follow-up visit at 3 years postoperative. Unlike deltoid insufficiency that results from axillary nerve injury, deltoid myopathy due to corticosteroid use contains intact fibers,. Therefore, we increased the effectivity of the remaining deltoid fibers by extending the moment arm of the anterior fibers using reverse shoulder arthroplasty and achieved reliable improvements in clinical symptoms and function without increasing the risk of dislocation.

• Journal of Digestive Cancer Research
• /
• v.3 no.2
• /
• pp.61-69
• /
• 2015

About 80% of all pancreatic cancer patients suffer from a wasting syndrome defined as the cancer cachexia characterized by abnormally low weight, weakness, and loss of skeletal muscle mass, which directly impacts physical activity, quality of life and overall survival. Over the past decades, we have gained new insights into the underlying mechanism of cachexia associated with pancreatic cancer. The aim of this review was to explore recent findings about cancer cachexia pathophysiology and describe the current pharmacologic approach. Pancreatic cancer cachexia is a multifactorial syndrome mediated by mechanical factors, inflammatory cytokines, neuropeptides, hormones and tumor-derived factors. The treatment of cancer cachexia remains controversial but is currently an active area of research. Several new targeted drugs are under investigation, and we hope to open a new prospect in the management of cancer cachexia in the future.

• Journal of Life Science
• /
• v.30 no.8
• /
• pp.672-679
• /
• 2020

Distal myopathy is a clinically and genetically heterogeneous group of degenerative diseases of the distal muscle. Glycogen storage disease type IXD (GSD9D) is a metabolic distal myopathy characterized by muscle deficiency of phosphorylase kinase, a key regulatory enzyme in glycogen metabolism. Affected individuals may develop muscle weakness, degeneration, and cramps, as well as abnormal muscle pain and stiffness after exercise. It has been reported that mutations in the PHKA1 gene which encodes the alpha subunit of muscle phosphorylase kinase cause GSD9D. In this study, we examined a Korean GSD9D family with a c.3314T>C (p.I1105T) mutation in the PHKA1 gene. This mutation has not been previously reported in any mutation database nor was it found in 500 healthy controls. The mutation region is well conserved in various other species, and in silico analysis predicts that it is likely to be pathogenic. To date, only seven mutations in the PHKA1 gene have been documented, and this is the first report of Korean GSD9D patients. This study also describes and compares the clinical symptoms and pathological conditions of previously reported cases and these Korean patients. We believe that our findings will be useful for the molecular diagnosis of GSD9D.

• Korean Journal of Ichthyology
• /
• v.7 no.2
• /
• pp.195-202
• /
• 1995

The seasonal changes in the muscle components of hibernant fish, amphibious mudskipper (Boleopthalmus pectinirostris), caught during the period between June 1993 and April 1994 were studied. The distributional changes of its major components in each muscle tissues was also observed before and after spawning and hibernation. Moisture content was the lowest after spawnig season and the highest just after hibernation, but crude protein was the highest after spawning sea-son. Crude lipid in female was the highest before spawning season, while in male it was the highest after spawning season, but both of female and male the lowest just after hibernation. Carbohydrate content in female and male showed the highest value just before hibernation and tended to decrease thereafter. In case of mudskipper, dyeing distribution was more or less spread in almost all of the tissues after spawning season but showed nearly no difference just after hibernation with the exception of small increase in dyeing degree of muco layer and epidermis layer. Investigation of mudskipper muscle tissue through the method of sudan black B dyeing yielded the results as follows ; lipid component in mudskipper in seasons before and after spawning season was percieved as mainly distributed in muco layer, epidermis and hypodermis layer respectively and also percieved a little between hypodermis subscutoneus cells. In season just before hibernation, it prevailed in almost all of the tissues, contrary to the weakness in its distribution degree just after hibernation.