• Journal of The Korean Dental Society of Anesthesiology
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• v.7 no.1
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• pp.18-21
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• 2007

Pelizaeus-Merzbacher disease (PMD) can be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein gene on chromosome Xq22. PMD is one of a group of progressive, degenerative disorders of the cerebral white matter known as the leukodystrophies. Due to the progressive nature of the disorders and their devastating effects on the central nervous system, these children frequently require anesthesia during imaging procedures such as MRI or during various surgical procedures. Anesthetic concerns in theses cases include high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, airway complications related to poor pharyngeal muscle control and copious oral secretions, and mental retardation. We report a successful anesthetic management in a patient with PMD for dental procedures.

• Journal of Oriental Neuropsychiatry
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• v.20 no.2
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• pp.217-227
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• 2009

Objectives : Multiple sclerosis (MS) is a demyelination disease of central nervous system, presenting a various neurological disorders depending on the lesion. In the view of oriental medicine, MS is similar to Flaccidity-syndrome(痿證). Also, since MS is a chronic disease which repeats the recurrences with periods of remission of the symptoms in between, it may usually be accompanied by depression. However, the etiology, treatment, and cause of recurrence of MS remain unknown, and also, as the recurrences of MS have been repeated, disease burden has been accumulated, which aggravates disorder. This case of MS experienced depression after the patient had been diagnosed as bad consequence based on the past 5 times recurrences of multiple sclerosis. Methods : We saw the causes as vicera and bowels functional disorder which might have come from a poor diet. Thus, we diagnosed this case as dual deficiency of spleen and kidney(脾腎兩虛), stagnant qi transforming into fire(氣鬱化火) and liver-kidney deficiency(肝腎不足) and treated it with Herb medication, acupuncture therapy, and supportive therapy, making the patient better. Results : We have improved the patient's condition to the time before 5th recurrence. Conclusions : This result suggests that our oriental medical treatments was effective on multiple sclerosis with depression.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.28 no.2
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• pp.71-78
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• 2017

Voice disorder is classified into three categories, structural, neurogenic and functional dysphonia. Neurogenic dysphonia refers to a disruption in the nerves controlling the larynx. Common examples of this include complete or partial vocal cord paralysis, spasmodic dysphonia. Also it occurs as part of an underlying neurologic condition such as Parkinson's disease, myasthenia gravis, Lou Gehrig's disease or disorder of the central nervous system that causes involuntary movement of the vocal folds during voice production. Functional dysphonia is a voice disorder in the absence of structual or neurogenic laryngeal characteristics. A near consensus exist that Muscle tension dysphonia (MTD) is functional voice disorder wherein hyperfunctional laryngeal muscle activity whereas Spasmodic dysphonia (SD) is neurogenic, action-induced focal laryngeal dystonia including several subtype. Both Adductor type spasmodic dysphonia (AdSD) and MTD may be associated with excessive supraglottic contraction and compensation, resulting in a strained voice quality with spastic voice breaks. It makes these two disorders extremely difficult to differentiate based on clinical interpretation alone. Because treatment for AdSD and MTD are quite different, correct diagnosis is important. Clinician should be aware of the specific vocal characteristics of each disease to improve therapeutic outcome.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.1-19
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• 2013

Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 600 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that requires immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for the confirmatory diagnosis of each disease, which is challenging to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

• Clinical and Experimental Pediatrics
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• v.62 no.9
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• pp.334-339
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• 2019

Kawasaki disease (KD) is a systemic vasculitis in infants and young children. However, its natural history has not been fully elucidated because the first case was reported in the late 1960s and patients who have recovered are just now entering middle age. Nevertheless, much evidence has raised concerns regarding the subclinical vascular changes that occur in post-KD patients. KD research has focused on coronary artery aneurysms because they are directly associated with fatality. However, aneurysms have been reported in other extracardiac muscular arteries and their fate seems to resemble that of coronary artery aneurysms. Arterial strokes in KD cases are rarely reported. Asymptomatic ischemic lesions were observed in a prospective study of brain vascular lesions in KD patients with coronary artery aneurysms. The findings of a study of single-photon emission computed tomography suggested that asymptomatic cerebral vasculitis is more common than we believed. Some authors assumed that the need to consider the possibility of brain vascular lesions in severe cases of KD regardless of presence or absence of neurological symptoms. These findings suggest that KD is related with cerebrovascular lesions in children and young adults. Considering the fatal consequences of cerebral vascular involvement in KD patients, increased attention is required. Here we review our understanding of brain vascular involvement in KD.

• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Biomolecules & Therapeutics
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• v.26 no.3
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• pp.225-241
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• 2018

Taurine is an abundant, ${\beta}-amino$ acid with diverse cytoprotective activity. In some species, taurine is an essential nutrient but in man it is considered a semi-essential nutrient, although cells lacking taurine show major pathology. These findings have spurred interest in the potential use of taurine as a therapeutic agent. The discovery that taurine is an effective therapy against congestive heart failure led to the study of taurine as a therapeutic agent against other disease conditions. Today, taurine has been approved for the treatment of congestive heart failure in Japan and shows promise in the treatment of several other diseases. The present review summarizes studies supporting a role of taurine in the treatment of diseases of muscle, the central nervous system, and the cardiovascular system. In addition, taurine is extremely effective in the treatment of the mitochondrial disease, mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), and offers a new approach for the treatment of metabolic diseases, such as diabetes, and inflammatory diseases, such as arthritis. The review also addresses the functions of taurine (regulation of antioxidation, energy metabolism, gene expression, ER stress, neuromodulation, quality control and calcium homeostasis) underlying these therapeutic actions.

• Korean Journal of Veterinary Research
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• v.31 no.2
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• pp.155-161
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• 1991

The mechanisms of demyelination in Theiler's murine encephalomyelitis virus (TMEV)-induced chronic central nervous system(CNS) disease are still unclear and are probably multifactoral. This study was intended to culture spinal cord cells isolated from TMEV-induced demyelinating mice. By Percoll density centrifugation of enzymatically dissociated tissue, the cells were collected and then cultured on poly-L-lysine-coated plastic coverslips for 2 weeks. Oligodendrocytes, astrocytes and macrophages were identified using cell-type specific markers. Viral antigens were not present in oligodendrocytes and in astrocytes by double immunofluorescence. Affected mouse oligodendrocytes had less capacities of sheet formation and galactocerebroside immunoreactivity than those of control cell 3. These findings support the hypothesis that immune mediated mechanisms play an important role in the process of demyelination in this animal model.

• Korean Journal of Biological Psychiatry
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• v.22 no.2
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• pp.47-54
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• 2015

In the past decade, structural, molecular, and functional changes in glial cells have become a major focus in the search for the neurobiological foundations of schizophrenia. Glial cells, consisting of oligodendrocytes, astrocytes, microglia, and nerve/glial antigen 2-positive cells, constitute a major cell population in the central nervous system. There is accumulating evidence of reduced numbers of oligodendrocytes and altered expression of myelin/oligodendrocyte-related genes that might explain the white matter abnormalities and altered inter- and intra-hemispheric connectivities that are characteristic signs of schizophrenia. Astrocytes play a key role in the synaptic metabolism of neurotransmitters ; thus, astrocyte dysfunction may contribute to certain aspects of altered neurotransmission in schizophrenia. Increased densities of microglial cells and aberrant expression of microglia-related surface markers in schizophrenia suggest that immunological/inflammatory factors are of considerable relevance to the pathophysiology of psychosis. This review describes current evidence for the multifaceted role of glial cells in schizophrenia and discusses efforts to develop glia-directed therapies for the treatment of the disease.

• Journal of Korean Neurosurgical Society
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• v.29 no.8
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• pp.1094-1097
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• 2000

Aspergillosis is an opportunistic infection associated with diabetes, alcoholism, use of corticosteroid and transplantation procedure. Aspergillosis of central nervous system is a rare disease and known to show an aggressive course with high mortality. We managed two cases of cerebral aspergillosis, following cranial operation, with combination therapy of surgery and antifungal agents. One patient recorvered but the other patient died. The clinical course of these two patients is presented with review of pertinent literature.