• Journal of the Korean Society of Radiology
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• v.84 no.5
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• pp.1152-1157
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• 2023

Common carotid artery occlusion (CCAO) is a very rare disorder that has rarely been studied. CCAO causes several neurological symptoms but can sometimes be asymptomatic due to the development of various anastomoses. Herein, we report the case of a 70-year-old male patient diagnosed with asymptomatic CCAO due to anastomotic flow. The patient underwent transfemoral cerebral angiography (TFCA) and was found to have CCAO with two collateral pathways, including an occipital artery-vertebral artery anastomosis. We emphasize the importance of TFCA when CCAO is suspected and review the types and anastomotic pathways of CCAO.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.15-21
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• 2021

Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.

• Journal of Society of Preventive Korean Medicine
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• v.3 no.2
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• pp.101-128
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• 1999

A study on disease treated at oriental medical treatment facilities (OMTF) and patients' satisfaction levels was conducted in order to figure out why the patients visited oriental medical doctors and the level of satisfaction of the patients for the services offered to them by oriental medical doctors. This study was performed from March 2 through May 31, 1998 by interviewing 1.532 persons living in major and small cities in korea. The results obtained were summarized as follows; 1. The general characteristics of subjects. The highest portion of each part was, 66.9% female, persons in the age group of over 60's 22.7%, high school graduated 34.9%, house wife 30.8%, The married 65.0%, Buddhist 36.9%, maj or city residents 60.2%, company covered insurance benefiter 39.0% and etc. 2. 40.5% of subjects visited OMTF for skeletal and connective tissue diseases. 21.5% for digestive system diseases. 16.2% for respiratory system diseases. 13.3% for circulatory system diseases and 9.0% for neurological problems. 3. 42.7% of males visited OMTF for skeletal and connective tissue diseases, which were the highest and respiratory system disorders, digestive system disorders, circulatory system disorders and neurological diseases in order. 39.4% of females visited OMTF for skeletal and connective tissue disorders which were the highest and other conditions such as digestive system, circulatory, respiratory, and neurological disorders in order. 4. The males with circulatory system disorders were treated by herbal medicine, combination of herbal medicine and acupuncture, only in order. The females with the some conditions above were treated by combination of herbal medicine and herbal medical and acupuncture only in order. The males and females with respiratory system and digestive system diseases were treated by herbal medicine, combination of herbal medicine and acupuncture only in order. But the males and females with skeletal and connective tissue diseases were by acupuncture are the highest in order. 5. The females and persons in the age group of over 60' s and house wife. the not married, the unhealthy persons, residents living in small cities, the persons with high income by medical treatments frequency in circulatory system diseases are the highest. 6, The females, middle school graduated and the married, persons in the age group of over 60's, unemployed, sales and service industry workers, Buddhists, major city residents, the unhealthy persons, the persons with middle income by medical treatments frequency in respiratory system diseases are the highest. 7. The females, persons in the age group of over 60's, under graduated or elementary school graduated, the unemployed and house wife, the unmarried, Buddhists, major city residents, the unhealthy persons, the persons with low income by medical treatments frequency in digestive system diseases are the highest. 8. The males, major city residents, old ages, under graduated or elementary school graduated, go earn officials, people grown in small city, the persons who had health insurance policies, the persons with low income, the unhealthy persons by medical treatments frequency in skeletal and connective tissue disorders diseases. 9. 50.8% of the respondents said that the treatments at the OMTF were very effective. 47.7% of them said that the treatments were effective. The males, persons in the age group of 40's, high school graduates, official workes, the married, the persons who did not have religion, major city residents, the persons who had health insurance policies, the persons with high income and the healthy persons said that the treatment effects at OMTF were satisfactory. 10. The patients' satisfaction rate for OMTF on each disease is, 1st. Musculo-Skeletal system(most satisfied), 2nd. the pregnancy & delivery complications, 3rd. Eye & ophthalmics, 4th. Respiratory system, 5th. Mental & bodily disorder, 6th. Digestive system and etc. 11. The factors affect OMTF are age, satisfaction for OMTF, current disease, religion, efficiency of Oriental Medicine, health condition and etc. This explained power of variable were 39.0%. 12. The satisfied factors for OMTF is correlate to educational level, and economical variables.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.35-42
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• 2018

Purpose: To follow up Korean patients with metabolic and endocrine disorders ascertained by Korea Genetics Research Center, and assess the long-term effectiveness of extended newborn screening program in Korea. Methods: From January 2000 to December 2017, tandem mass spectrometry and fluoroimmunoassay were employed in extended newborn screening (NBS). The NBS program obtained dried blood spots from 283,626 babies, 48 hours after birth, and screened for galactosemia, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and 50 preventable inborn errors of amino acid, fatty acid, and organic acid metabolism. Results: 28 cases of amino acid disorders, 75 cases of organic acid disorders, 27 cases of fatty acid disorders, 51 cases of urea cycle disorders, 127 cases of CH, 14 cases of CAH, and 15 cases of galactosemia were ascertained through NBS and subsequent confirmatory laboratory tests. Patients with amino acid metabolic disorders, galactosemia, CH, or CAH were more likely to have a better long-term outcome if detected early. Early management of MSUD led to much better outcome in over 90%. Despite early intervention, 32% of other organic acidemia cases still resulted in developmental delay and neurological problems. Fatty acid disorders showed varied results; those with EMA and MCAD had a good outcome, but those with VLCAD had serious neurological problems and considerably higher mortality. 75% with UCD experienced serious neurological complications and higher mortality. Conclusion: The nation-wide NBS program must be accompanied by comprehensive long-term management and physician and family education of inborn errors of metabolism for a better outcome.

• Korean Journal of Cognitive Science
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• v.34 no.2
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• pp.111-151
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• 2023

It is reported that binge drinkers show cognitive impairment similar to alcohol use disorder patients. A previous studies using neuropsychological tests and brain imaging techniques to investigate the visual perception of alcohol use disorder patients reported that they had global-local visual perception defects. Although the neurological basis for the global-local visual perception deficit in the heavy drinking group has been presented, there are no studies to date that have investigated the global-local visual perception in the heavy drinking group. This study investigated local-biased visual perception in female college students with binge drinking (BD) using event-related potentials (ERPs). Based on the scores of the Korean version of Alcohol Use Disorder Identification Test and the Alcohol Use Questionnaire, participants were assigned into BD (n=25) and non-BD (n=25) groups. Local-global visual processing was assessed using a local-global paradigm, in which large stimuli (global level) composed of small stimuli (local level) were presented. The stimuli presented at global and local levels were either congruent or incongruent. The behavioral results exhibited that the BD and non-BD groups did not differ in terms of accuracy and response time. In terms of ERPs, the BD and non-BD groups did not show difference in N100, P150 and N200 amplitude. However, the BD group showed significantly smaller P300 amplitude than non-BD group especially in the local condition. In addition, a negative correlation between P300 amplitude and binge drinking score was observed, i.e., severer binge drinking smaller P300 amplitude. The P300 is known to reflect cognitive inhibition and attentional allocation. In the global-local paradigm, the local condition required to attend to local target while ignoring global non-target. Therefore, the present results indicate that female college students with BD do not have local-biased visual processing, instead they seem to have difficulties in inhibition of irrelevant stimuli.

• Korean Journal of Biological Psychiatry
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• v.1 no.1
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• pp.117-123
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• 1994

This study was performed to examine the role of neuroleptics may in the development of neurologic soft signs in patients with schizophrenia. Neurologic soft signs were evaluated in 28 neuroleptic naive patients with schizophrenia or schizophreniform disorder and 31 neuroleptic non-naive patients with schizophrenia using a structured tool for measuring neurologic abnormalities, Neurological Evaluation Scale-Korean version(NES-K). Relationship to dose, duration and neurological side effects of neuroleptic treatment were also evaluated. Total scores of NES-K in neuroleptic naive group were significantly higher than those of non-naive group. Scores of motor coordination, sequencing of complex motor acts and others items in functional subcategories were also significantly higher in drug-naive patients. The sensory integration item was not different between two groups. After controlling covariates such ac dose of neuroleptics, age and sex, total scores, motor coordination and others items of NES-K were significantly higher in neuroleptic naive group. However there was no difference between drug naive and non-naive group in the sequencing of complex motor acts item due to effects of these covariates. In neuroleptic non-naive group the dosage of neuroleptics correlated with the motor coordination item, nor were there relationships between duration and side effects of neuroleptic treatment and neurologic soft signs. These findings suggest that neuroleptic treatment may play a only relative role in the development of neurologic soft signs in patients with schizophrenia and these abnormalities may be one of possible trait markers of schizophrenia. To elucidate this opinion, well-controlled, prospective study in same subjects will be helpful.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.84-88
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• 2012

Purpose: Neurofibromatosis type 1 (NF1), which is caused by mutations of the NF1 gene, is the most frequent single gene disorder to affect the nervous system. Unidentified bright objects (UBOs) are commonly observed on brain magnetic resonance imaging (MRI) in patients with NF1. However, their clinical and pathologic significance is not well understood. The purpose of this study was to investigate the correlation between UBOs and cerebral glucose metabolism measured by $^{18}F$-2-Fluoro-2-deoxy-D-glucose ($^{18}F$-FDG) positron emission tomography (PET) in Korean patients with NF1. Materials and Methods: Medical records of 75 patients (34 males and 41 females) with NF1 who underwent brain MRI and PET between 2005 and 2011 were evaluated retrospectively. Clinical data including demographics, neurological symptoms, and brain MRI and PET findings, were reviewed. Results: UBOs were detected in the brain MRI scans of 31 patients (41%). The region most frequently affected by UBOs was the basal ganglia. The most frequent brain PET finding was thalamic glucose hypometabolism (45/75, 60%). Of the 31 patients with UBOs, 26 had thalamic glucose hypometabolism on brain PET, but the other 5 had normal brain PET findings. Conversely, of the 45 patients with thalamic glucose hypometabolism on brain PET, 26 showed UBOs on their brain MRI scans, but 19 had normal findings on brain MRI scans. Conclusion: UBOs on brain MRI scans and thalamic glucose hypometabolism on PET appear to be 2 distinctive features of NF1 rather than correlated symptoms. Because the clinical significance of these abnormal imaging findings remains unclear, a longitudinal follow-up study of changes in clinical manifestations and imaging findings is necessary.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.1-13
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• 2020

Purpose: Gaucher disease (GD), which is the most prevalent lysosomal storage disorder worldwide, is caused by mutations in the glucocerebrosidase gene (GBA). GD is divided into three clinical subtypes based on the appearance of neurological symptoms. Type 1 GD is a chronic non-neuronopathic disease, and types 2 and 3 are acute neuronopathic and chronic neuronopathic forms, respectively. Neuronopathic GD types 2 and 3 are characterized by increased levels of glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph) in the brain, leading to massive loss of neurons. Methods: DNA damage and subsequent apoptosis of H4 cells were observed following neuroglioma H4 cell culture with GlcCer or GlcSph. Neuronal cell apoptosis was more prominent upon treatment with GlcSph. Results: When H4 cells were treated with GlcSph in the presence of tubacin, a histone deacetylase 6 inhibitor (HDAC6i), attenuation of both DNA damage and a reduction in the protein expression levels of GlcSph-induced apoptosis-associated factors were observed. Conclusion: These findings indicated that GlcSph played a prominent role in the pathogenesis of neuronopathic GD by inducing apoptosis, and that HDAC6i could be considered a therapeutic candidate for the treatment of neuronopathic GD.

• Journal of Korean Neurosurgical Society
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• v.29 no.10
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• pp.1365-1371
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• 2000

Objectives : Spinal cord compression is a rare presentation of non-Hodgkin's lymphoma(NHL), occurring in 0.1% to 10.2% of patients. Primary spinal extradural NHL, i.e. occurring in the absence of any detectable extraspinal lymphoproliferative disorder, has a potentially favourable outcome if diagnosed and treated early. The authors describe two patients with a clinical picture of acute spinal cord compression as the first presentation of NHL. Methods : The patients were 48-year-old female and 27-year-old female. Both presented with back pain followed by acute paraparesis and voiding difficulty. One patient was diabetic. Plain radiographs of the spine were not specific. Thoracic spine magnetic resonance imaging(MRI) revealed evidence of extradural soft tissue mass extending multiple vertebral segments. Results : The patients underwent emergency laminectomy for decompression and tissue diagnosis. Histological and immunohistochemical study revealed B-cell lymphoma, intermediate grade in both patients. Postoperative staging did not reveal any additional lesions other than extradural manifestation of the malignant lymphoma. Surgery with additional chemotherapy and radiotherapy allowed the clinical improvement of both patients. Conclusion : The authors report two patients with a clinical picture of acute spinal cord compression as the first presentation of NHL, and stress that primary spinal epidural NHL should be a diagnostic consideration in the patient without prior history of malignancy who presents with a prodrome of back pain followed by a rapid neurological deterioration.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.17 no.11
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• pp.421-431
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• 2016

The purpose of this study was to identify the influence of depression, social isolation, and meaning in life on the swallowing related quality of life in patients with dysphagia. In this study, 87 the dysphagia patients diagnosed with stroke, degenerative disease, and neurological disorder in a general or rehabilitation hospital in Seoul, Gyeonggi, and Incheon were assessed. The data were collected between February and April, 2015 using CES-D, RULS, PIL, SWAL-QOL. The data were analyzed using descriptive statistics, t-test, ANOVA, Pearson's correlation, and stepwise multiple regression with SPSS 22.0. Of the participants, 20.7% reported having had depression, 92.0% middle-high social isolation and 64.4% existential vacuum. The mean scores were SWAL- QOL 158.89(35.97). Stepwise multiple regression revealed that tube feeding to have the greatest effect on SWAL-QOL(${\beta}=-0.57$, p<.001), followed in order by age (${\beta}=0.26$, p=.001), lower MIL (${\beta}=0.19$ p=.014), and education (${\beta}=0.17$, p=.032). The most influential factor to SWAL-QOL was tube feeding. These variables accounted for 50.7% of SWAL-QOL in dysphagia patients (F=28.84 p=.031). Therefore, it is essential to develop the intervention that can improve the meaning in life in patients with dysphagia. In addition there is a need to study the psychological factors and quality of life of tube feeding.