• Journal of Interdisciplinary Genomics
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• 제5권1호
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Journal of Korean Neurosurgical Society
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• 제29권6호
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• pp.744-747
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• 2000

Objectives : The purpose of this study was to evaluate the clinical features of the epidermoid tumor of posterior fossa and to assess the surgical outcome. Methods : We reviewed the clinicoradiological records of 10 epidermoid tumor of posterior fossa, treated surgically at our hospital between 1991 and 1996. Results : The mean age of onset was 36 years old and mean duration of symptom was 5.2 years. Six were men and four were women. The location of tumors were cerebellopontine angle(CPA) 5 cases, cerebellum(Cbll)& 4th ventricle 3 cases, foramen magnum 1 case, and pineal region extended to Cbll and 4th ventricle 1 case. Common clinical features were trigeminal neuralgia in 3 cases, cerebellar signs 2 case, headache 2 cases, hemifacial spasm with deafness 1 case, cbll signs and multiple cranial nerve dysfunctions 1 case. One CPA epidermoid had no clinical symptom and sign associated with the tumor. The surgical approaches were suboccipital approach in 9 cases and one transcallosal approach to the tumor of pineal region. The extent of surgical removal was gross total resection in 5 cases and near total or subtotal resection in 5. Two patients with CPA tumor were complicated with facial paresis. One patient with tumor located in cerebellum extended into cisterna magna had postoperative vocal cord paresis. All complicated cases had severe adhesion of tumor capsule with brainstem or cranial nerve. The mean duration of follow up was 26 months. The overall outcome was improvement of symptoms and signs in 6 cases and stationary 4 cases. During follow up, imaging study was done in 7 patients and none of them had finding of tumor recurrence. Conclusion : We conclude that recurrence of tumor is rare in both total and subtotal resected cases, but long-term follow-up is required. Aggressive removal of tumor capsule that adhesed to brianstem or cranial nerve is avoided for preventing severe postoperative complication.

• 한국임상수의학회지
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• 제34권5호
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• pp.377-380
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• 2017

An 8-year-old, shih-tzu female dog was referred due to neurological signs including paraparesis and back pain. On the complete blood count, hematologic analysis showed elevated leukocytosis. Serum biochemical analysis revealed elevated serum alkaline phosphatase concentration and C-reactive protein concentration. On the neurologic exam, the dog was suspected to have thoracolumbar myelopathy. On magnetic resonance imaging, there were masses within the spinal canal at L1-3 intervertebral disc space that were located dorsal to spinal cord. It was hyperintense on T1-, T2-weighted magnetic resonance images, Fluid-attenuated inversion recovery, and fat suppression images. The contrast-enhanced T1-weighted images showed no enhancement. The lesions were well circumscribed. The spinal cord was compressed and displaced ventrally by the mass. After removal of the masses via L1-L3 dorsal laminectomy, pyogranulomatous inflammation was confirmed by histopathological examination. Six months after surgery, the dog recovered uneventfully and remained fully ambulatory with no neurological deficits. This case demonstrates the utility of magnetic resonance imaging for the diagnosis of spinal canal pyogranulomatous inflammation.

• 한국산학기술학회논문지
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• 제18권5호
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• pp.549-556
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• 2017

본 연구의 목적은 급성기와 직업 사회 복귀전에 있는 뇌졸중 환자의 신경학적 인지기능 및 사회 인지기능의 차이를 비교하고 그 관계를 입증함으로서 급성기 뇌졸중 환자의 인지재활 중재 시 사회 인지 중재의 중요성을 파악하고자 하였다. 2015년 5월에서 2016년 6월까지 서울 소재 재활병원에서 재활치료를 받고 있는 뇌졸중 입원환자 30명과 주간재활센터를 이용하는 환자 30명을 대상으로 LOTCA, 만화 의도추론과제, 사회행동배열과제를 실시하였다. 각 그룹간의 차이를 알아보기 위해 이표본 t 검정을 실시하였다. 각 그룹내에서의 각 변인들간의 상관관계를 알아보기 위해 Pearson's correlations 검정을 실시하였다. 그 결과, 뇌졸중 급성기 뇌졸중 환자군과 지역사회 복귀 전 재활훈련을 받고 있는 만성 뇌졸중 환자군의 신경학적 인지기능과 사회인지 기능 모두에서 통계학적으로 유의한 차이를 나타내었다(p<0.05). 신경학적 인지와 사회인지와의 선형적 관련성을 알아본 결과 급성 뇌졸중군에서는 사고 조직력 항목이 사회행동배열 척도와 상관성을 나타내었다(r=0.539. p<0.05). 만성 뇌졸중군에서는 만화 의도 추론과제는 시지각(r=0.530, p<0.05), 시운동조직화(r=0.655, p<0.05), 사고조작력(r=0.764, p<0.05) 항목과 상관성을 나타내었다. 또한 사회행동배열척도와 시운동조직화(r=0.534, p<0.05). 사고조작력(r=0.650, p<0.05)이 상관성을 나타내었다. 다중회귀 분석 결과, 만화의도 추론과제 결과에서 급성기 뇌졸중 환자의 사회인지기능에 영향을 미치는 신경학적 인지기능은 사고조작력으로 나타났으며(B=0.431), 만성 뇌졸중 환자군의 경우 사고 고작력(B=0.272), 시운동 조직화(B=0.218)로 나타났다. 또한, 사회행동배열과제 결과에서는 급성기 뇌졸중 환자의 경우 사고 조작력(B=0.417)으로 나타났고, 만성 뇌졸중 환자의 경우 사고 조작력(B=0.267), 시운동조직화(B=0.274), 시지각(B=0.151)으로 나타났다. 이번 연구 결과에 의하면, 두 그룹 간 신경학적 인지와 사회인지 수준에 차이를 보였다. 사회인지는 주로 신경학적 인지기능 고차원적 인지 기능인 사고조작력과 높은 관련성이 있고 영향을 받을 것으로 사료된다. 따라서 추후 연구에서는 뇌졸중 환자에게 사회인지기능에 대한 훈련 프로그램을 적용 후 신경학적 인지기능 중 고차원적 인지기능의 변화가 있는지 추정해보는 연구가 필요하겠다.

• 한국방사선학회논문지
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• 제15권4호
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• pp.555-564
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• 2021

시상은 신경 기능 조절에 중요한 역할을 하는 것으로 알려져 있다. 뇌의 중앙에 위치한 시상은 수면, 각성, 감정 조절에 관여하며, 다발성 경화증, 본태성 떨림, 파킨슨병과 같은 신경퇴행성 질환과 관련이 있는 것으로 보고되고 있다. 또한, 시상의 철 침전물이 나이가 들면서 우울 증상을 유발할 수 있다는 보고가 있다. 연구 간에 차이가 있지만, 시상과 감정 조절, 처리 등의 신경 기능이 밀접한 관계가 있어 시상 영역이 신경 장애에 분명한 영향을 미친다고 추론할 수 있다. Tractography 분석을 통해 각 피질하 영역의 세부 영역 간의 연결성을 매트릭스 형태로 조사하여 강한 연결성과 약한 반구간 연결성을 보였다. 60세 이상 그룹에서 시상의 WM 연결성이 두 그룹보다 약한 것으로 나타났다. 두 그룹을 비교한 결과 젊은 그룹(10-39세 및 40-59세)가 60세 이상 그룹보다 연결 강도가 높았고 각 반구에서 3개의 연결 경로에서 통계적으로 유의한 차이가 발견되었다. 노화로 인한 시상 관련 연결 강도의 감소는 불안 및 우울증과 같은 정서적 및 신경학적 장애에 영향을 미칠 수 있으며 네트워크 측정은 임상 조건 전반에 걸쳐 인지 장애를 평가하는 데 도움이 될 수 있음을 보여주었다.

• Journal of Korean Neurosurgical Society
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• 제61권2호
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• pp.224-232
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• 2018

Objective : Cervical ossification of the posterior longitudinal ligament (OPLL) can be treated via anterior or posterior approach, or both. The optimal approach depends on the characteristics of OPLL and cervical curvature. Although most patients can be successfully treated by a single surgery with the proper approach, renewed or newly developed neurological deterioration often requires repeat surgery. Methods : Twenty-seven patients with renewed or newly developed neurological deterioration requiring salvage surgery for multi-segment cervical OPLL were enrolled. Ten patients (group AP) underwent anterior approach, and 17 patients (group PA) underwent posterior approach at the initial surgery. Clinical and radiological data from initial and repeat surgeries were obtained and analyzed retrospectively. Results : The intervals between the initial and repeat surgeries were $102.80{\pm}60.08months$ (group AP) and $61.00{\pm}8.16months$ (group PA) (p<0.05). In group AP, the main OPLL lesions were removed during the initial surgery. There was a tendency that the site of main OPLL lesions causing renewed or newly developed neurological deterioration were different from that of the initial surgery (8/10, p<0.05). Repeat surgery was performed for progressed OPLL lesions at another segment as the main pathology. In group PA, the main OPLL lesions at the initial surgery continued as the main pathology for repeat surgery. Progression of kyphosis in the cervical curvature (Cobb's angle on C2-7 and segmental angle on the main OPLL lesion) was noted between the initial and repeat surgeries. Group PA showed more kyphotic cervical curvature compared to group AP at the time of repeat surgery (p<0.05). Conclusion : The reasons for repeat surgery depend on the type of initial surgery. The main factors leading to repeat surgery are progression of remnant OPLL at a different segment in group AP and kyphotic change of the cervical curvature in group PA.

• 성인간호학회지
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• 제25권1호
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• pp.24-32
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• 2013

Purpose: The aim of the study was to identify the most appropriate fall-risk assessment tool for neurological patients in an acute care setting. Methods: This descriptive study compared the reliability and validity of three fall-risk assessment tools (Morse Fall Scale, MFS; St Thomas's Risk Assessment Tool in Falling Elderly Inpatients, STRATIFY; Hendrich II Fall Risk Model, HFRM II). We assessed patients who were admitted to the Department of Neurology, Neurosurgery, and Rehabilitation at Asan Medical Center between July 1 and October 31, 2011, using a constructive questionnaire including general and clinical characteristics, and each item from the three tools. We analyzed inter-rater reliability with the kappa value, and the sensitivity, specificity, predictive value, and the area under the curve (AUC) of the three tools. Results: The analysis included 1,026 patients, and 32 falls occurred during this study. Inter-rater reliability was above 80% in all three tools. and the sensitivity was 50.0% (MFS), 84.4%(STRATIFY), and 59.4%(HFRM II). The AUC of the STRATIFY was 82.8. However, when the cutoff point was regulated as not 50 but 40 points, the AUC of the MFS was higher at 83.7. Conclusion: These results suggest that the STRATIFY may be the best tool for predicting falls for acute neurological patients.

• 성인간호학회지
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• 제20권3호
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• pp.489-499
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• 2008

Purpose: The purpose of this study was to assess the importance and contribution of 9 nursing outcomes and their indicators that could be applied to cerebrovascular patients. Methods: Data were collected from 175 neurosurgical nurses working at two university affiliated hospitals and five secondary hospitals located in Gwang-ju. The Fehring method was used to estimate outcome content validity(OCV) and outcome sensitivity validity(OSV) of nursing outcomes and their indicators. Stepwise regression was used to evaluate relationship between outcome and its indicators. Results: The core outcomes identified by the OCV were Tissue Perfusion: Cerebral, Nutritional Status, Neurological Status, and Wound Healing: Primary Intention, whereas highly supportive outcomes identified by the OSV were Oral Health, Self-Care: ADL, and Nutritional Status. All the critical indicators selected for Fehring method were not included in stepwise regression model. By stepwise regression analysis, the indicators explained outcomes from 19% to 52% in importance and from 21% to 45% in contribution. Conclusion: This study identified core and supportive outcomes and their indicators which could be useful to assess the physical status of cerebrovascular patients. Further research is needed for the revision and development of nursing outcomes and their indicators at neurological nursing area.

• 대한수의학회지
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• 제48권1호
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• pp.93-98
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• 2008

A 6-year-old female Boston terrier dog was presented with seizure episode, forelimb paraparesis, excessive panting, and ataxia. On physical and neurological examination, episcleral vessel engorgement, delayed postural reaction, delayed pupillary light reflex (both direct and consensual), and crossed forelimb were noted. Serum biochemical profiles were not remarkable other than mildly elevated hepatic enzymes. On cerebrospinal fluid analysis, elevated protein concentration was observed. In magnetic resonance imaging scans, the left frontal brain lesion with ring enhancement strongly suggested the presence of intracranial tumor. Concurrently, secondary hydrocephalus and syringomyelia were also observed. The dog was euthanized at 4 months after initial presentation because of aggravated neurological signs. This case was definitely diagnosed as an intracranial anaplastic oligodendroglioma based on postmortem histopathologic examination.

• Laboraroty Animal Research
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• 제33권3호
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• pp.244-250
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• 2017

${\alpha}$-Synuclein is abundantly expressed in neuronal tissue, plays an essential role in the pathogenesis of neurodegenerative disorders, and exerts a neuroprotective effect against oxidative stress. Cerebral ischemia causes severe neurological disorders and neuronal dysfunction. In this study, we examined ${\alpha}$-synuclein expression in middle cerebral artery occlusion (MCAO)-induced cerebral ischemic injury and neuronal cells damaged by glutamate treatment. MCAO surgical operation was performed on male Sprague-Dawley rats, and brain samples were isolated 24 hours after MCAO. We confirmed neurological behavior deficit, infarction area, and histopathological changes following MCAO injury. A proteomic approach and Western blot analysis demonstrated a decrease in ${\alpha}$-synuclein in the cerebral cortices after MCAO injury. Moreover, glutamate treatment induced neuronal cell death and decreased ${\alpha}$-synuclein expression in a hippocampal-derived cell line in a dose-dependent manner. It is known that ${\alpha}$-synuclein regulates neuronal survival, and low levels of ${\alpha}$-synuclein expression result in cytotoxicity. Thus, these results suggest that cerebral ischemic injury leads to a reduction in ${\alpha}$-synuclein and consequently causes serious brain damage.