• Journal of the Korean Child Neurology Society
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• v.24 no.3
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• pp.71-83
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• 2016

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo's oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.

• Biomolecules & Therapeutics
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• v.27 no.4
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• pp.342-348
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• 2019

Ossification of the posterior longitudinal ligament (OPLL) can be defined as an ectopic ossification in the tissues of spinal ligament showing a hyperostotic condition. OPLL is developed mostly in the cervical spine and clinical presentations of OPLL are majorly myelopathy and/or radiculopathy, with serious neurological pathology resulting in paralysis of extremities and disturbances of motility lowering the quality of life. OPLL is known to be an idiopathic and multifactorial disease, which genetic factors and non-genetic factors including diet, obesity, physical strain on the posterior longitudinal ligament, age, and diabetes mellitus, are involved into the pathogenesis. Up to now, surgical management by decompressing the spinal cord is regarded as standard treatment for OPLL, although there might be the risk of development of reprogression of ossification. The molecular pathogenesis and efficient therapeutic strategy, especially pharmacotherapy and/or preventive intervention, of OPLL has not been clearly elucidated and suggested. Therefore, in this review, we tried to give an overview to the present research results on OPLL, in order to shed light on the potential pharmacotherapy based on molecular pathophysiologic aspect of OPLL, especially on the genetic/genomic factors involved into the etiology of OPLL.

• Journal of the Korean Orthopaedic Association
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• v.56 no.6
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• pp.519-524
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• 2021

Meningitis after spinal surgery occurs rarely but can be fatal. A 49-year-old male was diagnosed with compressive myelopathy due to cervical disc herniation at the C 5, 6 level and underwent anterior cervical discectomy and fusion (ACDF). He complained of severe neck pain and stiffness with fever postoperatively and one week after surgery, the patient presented with abrupt tetraplegia. The follow-up magnetic resonance imaging and cerebrospinal fluid analysis revealed bacterial meningitis complicated by myelitis. The patient was treated with antibiotics and steroid, but the outcome was poor. The authors report a case of meningitis combined with myelitis following anterior cervical spinal surgery.

• Journal of Haehwa Medicine
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• v.8 no.2
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• pp.211-243
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• 2000

This study was performed to investigate the cause, symptom, treatment, medicine of Wei symptom through the literature of oriental and western medicine. The results obtained were as follows: 1. Wei symptom is the symptom that reveals muscle relaxation without contraction and muscle relaxation occures in the lower limb or upper limb, in severe case, leads to death. 2. Since the pathology and etiology of Wei symptom was first described as "pe-yeol-yeop-cho"(肺熱葉焦) in Hung Ti Nei Ching(黃帝內經), for generations most doctors had have accepted it. but after Dan Ge(丹溪), it had been classified into seven causes, damp-heat(濕熱), phlegm-damp(濕痰), deficiency of qi(氣虛), deficiency of blood(血虛), deficiency of yin(陰處), stagnant blood(死血), stagnant food(食積). Chang Gyeng Ag(張景岳) added the cause of deficiency of source qi(元氣). 3. The concept of "To treat Yangming, most of all"(獨治陽明) was emphasized in the treatment of Wei symptom and contains nourishment of middle warmer energy(補益中氣), clearance of yangming-damp-heat(淸化陽明濕熱). 4. Since Nei-ching era(內經時代), Wei and Bi symptom(痺症) is differenciated according to the existence of pain. After Ming era(明代) appeared theory of co-existence of Wei symptom and pain or numbness but they were accepted as a sign of Wei symptom caused by the pathological factor phelgm(痰), damp(濕), stagnancy(瘀). 5. In the western medical point of view, Wei symptom is like paraplegia, or tetraplegia. and according to the causative disease, it is accompanied by dysesthesia, paresthsia, pain. thus it is more recommended to use hwal-hyel-hwa-ae(活血化瘀) method considering damp-heat(濕熱), qi deficiency of spleen and stornach(脾胃氣虛) as pathological basis than to simply differenciate Wei and Bi symptom according to the existence of pain. 6. The cause of Gullian-Barre syndrome(GBS) is consist of two factors, internal and external. Internal factors include asthenia of spleen and stomach, and of liver and kidney. External factors include summur-damp(暑濕), damp-heat(濕熱), cold-damp(寒濕) and on the basis of "classification and treatment according to the symptom of Zang-Fu"(臟腑辨證論治), the cause of GBS is classified into injury of body fluid by lung heat(肺熱傷津), infiltration of damp-heat(濕熱浸淫), asthenia of spleen and kidney(脾腎兩虛), asthenia of spleen and stomach(脾胃虛弱), asthenia of liver and kidney (肝腎兩虛). 7. The cause of GBS is divided by according to the disease developing stage: Early stage include dryness-heat(燥熱), damp(濕邪), phlegm(痰濁), stagnant blood(瘀血), and major treatment is reducing of excess(瀉實). Late stage include deficiency of essence(精虛), deficiency with excess(虛中挾實), and essencial deficiency of liver and kidney(肝腎精不足) is major point of treatment. 8. Following is the herbal medicine of GBS according to the stage. In case of summur-damp(暑濕), chung-seu-iki-tang(淸暑益氣湯) is used which helps cooling and drainage of summer-damp(淸利暑濕), reinforcement of qi and passage of collateral channels(補氣通絡). In case of damp-heat, used kun-bo-hwan(健步丸), In case of cool-damp(寒濕), used 'Mahwang-buja-sesin-tang with sam-chul-tang'(麻黃附子細辛湯合蓼朮湯). In case of asthenia of spleen and kidney, used 'Sam-lyeng-baik-chul san'(蔘笭白朮散), In case of asthenia of liver and kidney, used 'Hojam-hwan'(虎潛丸). 9. Following is the herbal medicine of GBS according to the "classification and treatment according to the symptom of Zang-Fu"(臟腑辨證論治). In the case of injury of body fluid by lung heat(肺熱傷津), 'Chung-jo-gu-pae-tang'(淸燥救肺湯) is used. In case of 'infiltration of damp-heat'(濕熱浸淫), us-ed 'Yi-myo-hwan'(二妙丸), In case of 'infiltration of cool-damp'(寒濕浸淫), us-ed 'Yui-lyung-tang', In case of asthenia of spleen, used 'Sam-lyung-bak-chul-san'. In case of yin-deficiency of liver and kidney(肝腎陰虛), used 'Ji-bak-ji-hwang-hwan'(知柏地黃丸), or 'Ho-jam-hwan'(虎潛丸). 10. Cervical spondylosis with myelopathy is occuered by compression or ischemia of spinal cord. 11. The cause of cervical spondylosis with myelopathy consist of 'flow disturbance of the channel points of tai-yang'(太陽經兪不利), 'stagnancy of cool-damp'(寒濕凝聚), 'congestion of phlegm-damp stagnant substances'(痰濕膠阻), 'impairment of liver and kidney'(肝腎虛損). 12. In treatment of cervical spondylosis with myelopathy, are used 'Ge-ji-ga-gal-geun-tang-gagam'(桂枝加葛根湯加減), 'So-hwal-lack-dan-hap-do-hong-eum-gagam(小活絡丹合桃紅飮加減), 'Sin-tong-chuck-ue-tang-gagam(身痛逐瘀湯加減), 'Do-dam-tang-hap-sa-mul-tang-gagam'(導痰湯合四物湯加減), 'Ik-sin-yang-hyel-guen-bo-tang'(益腎養血健步湯加減), 'Nok-gakyo-hwan-gagam'(鹿角膠丸加減). 13. The cause of muscle dystropy is related with 'the impairement of vital qi'(元氣損傷), and 'impairement of five Zang organ'(五臟敗傷). Symptoms and signs are classified into asthenia of spleen and stomach, deficiency with excess, 'deficiency of liver and kidney'(肝腎不足) infiltration of damp-heat, 'deficiency of qi and blood'(氣血兩虛), 'yang deficiency of spleen and kidney'(脾腎陽虛). 14. 'Bo-jung-ik-gi-tang'(補中益氣湯), 'Gum-gang-hwan'(金剛丸), 'Yi-gong-san-hap-sam-myo-hwan'(異功散合三妙丸), 'Ja-hyel-yang-gun-tang'(滋血養筋湯), 'Ho-jam-hwan'(虎潛丸) are used for muscle dystropy. 15. The causes of myasthenia gravis are classified into 'insufficiency of middle warmer energy'(中氣不足), 'deficiency of qi and yin of spleen and kidney'(脾腎兩處), 'asthenia of qi of spleen'(脾氣虛弱), 'deficiency of qi and blood'(氣血兩虛), 'yang deficiency of spleen and kidney'(脾腎陽虛). 16. 'Bo-jung-ik-gi-tang-gagam'(補中益氣湯加減), 'Sa-gun-ja-tang-hap-gi-guk-yang-hyel-tang'(四君子湯合杞菊地黃湯), 'Sa-gun-ja-tang-hap-u-gyi-eum-gagam'(四君子湯合右歸飮加減), 'Pal-jin-tang'(八珍湯), 'U-gyi-eum'(右歸飮) are used for myasthenia gravis.

• Journal of Korean Neurosurgical Society
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• v.56 no.2
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• pp.121-129
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• 2014

Objectives : Patients with cervical ossification of posterior longitudinal ligament (OPLL) are susceptible to cord injury, which often develops into myelopathic symptoms. However, little is known regarding the prognostic factors that are involved in minor trauma. We evaluated the relationship between minor trauma and neurological outcome of OPLL and investigated the prognostic factors with a focus on compressive factors and intramedullary signal intensity (SI). Methods : A total of 74 patients with cervical myelopathy caused by OPLL at more than three-levels were treated with posterior decompression surgeries. We surveyed the space available for spinal cord (SAC), the severity of SI change on T2-weighted image, and diabetes mellitus (DM). The neurological outcome using Japanese Orthopedic Association (JOA) scale was assessed at admission and at 12-month follow-up. Results : Among the variables tested, preoperative JOA score, severity of intramedullary SI, SAC, and DM were significantly related to neurological outcome. The mean preoperative JOA were $11.3{\pm}1.9$ for the 41 patients who did not have histories of trauma and $8.0{\pm}3.1$ for the 33 patients who had suffered minor traumas (p<0.05). However, there were no significant differences in the recovery ratios between those two groups. Conclusions : Initial neurological status and high intramedullary SI in the preoperative phase were related to poorer postoperative outcomes. Moreover, the patients with no histories of DM and larger SACs exhibited better improvement than did the patients with DM and smaller SACs. Although the initial JOA scores were worse for the minor trauma patients than did those who had no trauma prior to surgery, minor trauma exerted no direct effects on the surgical outcomes.

• Journal of Korean Neurosurgical Society
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• v.56 no.2
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• pp.114-120
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• 2014

Objective : At present, gold-standard technique of cervical cord decompression is surgical decompression and fusion. But, many complications related cervical fusion have been reported. We adopted an extended anterior cervical foraminotomy (EACF) technique to decompress the anterolateral portion of cervical cord and report clinical results and effectiveness of this procedure. Methods : Fifty-three patients were operated consecutively using EACF from 2008 to 2013. All of them were operated by a single surgeon via the unilateral approach. Twenty-two patients who exhibited radicular and/or myelopathic symptoms were enrolled in this study. All of them showed cervical cord compression in their preoperative magnetic resonance scan images. Results : In surgical outcomes, 14 patients (64%) were classified as excellent and six (27%), as good. The mean difference of cervical cord anterior-posterior diameter after surgery was 0.92 mm (p<0.01) and transverse area was $9.77mm^2$ (p<0.01). The dynamic radiological study showed that the average post-operative translation (retrolisthesis) was 0.36 mm and the disc height loss at the operated level was 0.81 mm. The change in the Cobb angle decreased to 3.46, and showed slight kyphosis. The average vertebral body resection rate was 11.47%. No procedure-related complications occurred. Only one patient who had two-level decompression needed anterior fusion at one level as a secondary surgery due to postoperative instability. Conclusions : Cervical cord decompression was successfully performed using EACF technique. This procedure will be an alternative surgical option for treating cord compressing lesions. Long-term follow-up and a further study in larger series will be needed.

• Clinical and Experimental Pediatrics
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• v.55 no.11
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• pp.430-437
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• 2012

Purpose: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. Method: MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. Result: Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. Conclusion: An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.

• The Korean Journal of Pain
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• v.14 no.2
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• pp.193-198
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• 2001

Background: Anterior atlantoaxial subluxation (AAS) is a frequent phenomenon in rheumatoid arthritis (RA). AAS compresses the C2 ganglion or nerve and is a cause of posterior neck pain or occipital headache. Methods: We selected RA patients that had developed posterior neck pain or occipital headache caused by AAS. AAS was diagnosed by an increase of ADI (atlantodental interval). A distance of 3 mm or more was considered significant. Patients with vertical subluxation or symptoms suggestive of myelopathy were excluded. Before C2 RF ganglionotomy, we proceeded with a C2 ganglion block or greater occipital nerve block used by local anesthetics. For C2 RF ganglionotomy, the patient was placed in the supine position on a fluoroscopic table. A 100 mm, 4 mm active tip electrode was chosen. Following sensory stimulation at 0.2 to 0.6 V, the lesion was performed at a temperature of $60^{\circ}C$ to $65^{\circ}C$ for 60 sec. We followed up the patient after 6 months later. Results: All cases were female and the average duration of RA was 8.5 years. The duration of posterior neck pain or occipital headache was 1-8 months. The average ADI was 4.2 mm and the McGregor index was 3.3 mm on the average. In all cases, the score on the 4 point Likert scale was 4 (pain free) during the follow-up period. Conclusions: We found that the occipital headache or posterior neck pain caused by AAS in rheumatoid arthritis patients was alleviated over a short term follow up. C2 RF ganglionotomy is suggested as an effective palliative treatment for AAS in RA patients.

• Journal of Korean Neurosurgical Society
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• v.40 no.1
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• pp.58-62
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• 2006

Objective : Development of diagnostic tools has resulted in early detection of thoracic disc herniations[TDH] even when the herniated disc is soft in consistency. In some of the cases, it is considered better not to opt for surgical treatment due to the unduly high morbidity and potential complications associated with conventional approaches. The authors have applied percutaneous endoscopic thoracic discectomy[PETD] technique to soft TDHs in order to avoid the morbidity associated with conventional approaches. Methods : Eight consecutive patients [range, 31 to 75 years] with soft lateral or central TDH [from T2-3 to T11-12] underwent PETD between May 2001 and June 2004. The patient was positioned in a prone position with intravenous sedation and local anesthetic infiltration. The authors introduced a cannula into the thoracic intervertebral foramen using endoscopic foraminoplasty technique. Discectomy was performed with mechanical tools and a laser under continuous endoscopic visualization and flu oroscopic guidance. Functional status was assessed preoperatively and postoperatively using the Oswestry Disability Index[ODI]. Results : The mean ODI scores improved from 52.8 before the surgery to 25.8 at the final follow-up. In cases of myelopathy, long tract signs showed improvement. The mean operative time was 55 minutes, and no patient required conversion to open surgery. Conclusion : The technique allows a smaller incision and less morbidity. Soft TDH is amenable to this minimally invasive approach in selected patients with myeloradiculopathy.

• Journal of Korean Neurosurgical Society
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• v.48 no.4
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• pp.335-341
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• 2010

Objective : Anterior cervical corpectomy with fusion (ACF) or laminoplasty may be associated with substantial number of complications for treating multilevel cervical ossification of the posterior longitudinal ligament (OPLL) with significant cord compression. For more safe decompression and stabilization in multilevel cervical OPLL with prominent cord compression, we propose circumferential cervical surgery (selective ACF and laminoplasty) based on our favorable experience. Methods : Twelve patients with cervical myelopathy underwent circumferential cervical surgery and all patients showed multilevel OPLL with Signal change of the spinal cord on magnetic resonance imaging (MRI). A retrospective review of clinical, radiological. and surgical data was conducted. Results : There were 9 men and 3 women with mean age of 56.7 years and a mean follow up period of 15.6 months. The average corpectomy level was 1.16 and laminoplasty level was 4.58. The average Japanese Orthopedic Association score for recovery was 5.1 points and good clinical results were obtained in 11 patients (92%) (p < 0.05). The average space available for the cord improved from 58.2% to 87.9% and the average Cobb's angle changed from 7.63 to 12.27 at 6 months after operation without failure of fusion (p < 0.05). Average operation time was 8.36 hours, with an estimated blood loss of 760 mL and duration of bed rest of 2.0 days. There were no incidences of significant surgical complications, including wound infection. Conclusion : Although the current study examined a small sample with relatively short-term follow-up periods, our study results demonstrate that circumferential cervical surgery is considered favorable for safety and effectiveness in multilevel OPLL with prominent cord compression.