• Journal of Genetic Medicine
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• v.7 no.2
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• pp.145-150
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• 2010

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

• Journal of Korean Neurosurgical Society
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• v.30 no.2
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• pp.207-210
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• 2001

Objective : The prognosis of spontaneous intracerebral hemorrhage often depends on initial neurologic condition, size and location of hemorrhage and associated intraventricular hemorrhage. However, age of patient, coagulation state and other associated vascular diseases may also play a role when present. In recent years, the geriatric population has been increasing. The age distribution of the patients with intracerebral hemorrhages also has been increased, accordingly. However, such patients, especially when associated with poor initial conditions often tend to be managed rather conservatively. The authors analyzed retrospectively on forty-five patients with spontaneous intracerebral hemorrhage over the seventies with poor initial condition to find out whether there exists a difference of outcome between surgery and non-surgery group. Material and Method : A total of 45 patients over seventies with spontaneous intracerebral hemorrhage with Glasgow Coma Scale(GCS) 4-8 treated over last six years were included. The validity of surgical management for these patients as well as clinical variables which might have been operated on the outcome of these patients were evaluated. The Glasgow Outcome Scale(GOS) after three months was used for comparison of outcome. Results : In surgical group(19 cases), mean age was 74.5 years old, mean hematoma volume 67.2ml and mean GCS score 5.7 points. In nonsurgical group(26 cases), mean age was 79.3 years old, mean hematoma volume 32.1ml, and mean GCS score 6.8 points. Mortality rate in surgical group was 47.4%(9 patients), including 2 cases of post-operative rebleeding, while that in nonsurgical group was 46.2%. However, when patients with initial GCS 4-6 points and over 30ml in hematoma volume were regrouped, mortality rate in surgical group was 46.2%, whereas mortality rate in nonsurgical group was 66.7%. Conclusion : It is concluded that the mortality rate is much low in surgery group with initial GCS less than 6 points and hematoma volume over 30cc. There was no significant difference of outcome in patients with basal ganglia and thalamic hemorrhage. However, surgical treatment lowered the mortality and morbidity rate in patients with subcortical and cerebellar hemorrhage.

• Experimental and Molecular Medicine
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• v.50 no.11
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• pp.8.1-8.14
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• 2018

We previously demonstrated that the direct transplantation of human umbilical cord blood-derived mesenchymal stem cells (hUCB-MSCs) into the dentate gyrus ameliorated the neurological symptoms of Niemann-Pick type C1 (NPC1)-mutant mice. However, the clinical presentation of NPC1-mutant mice was not fully understood with a molecular mechanism. Here, we found 14,15-epoxyeicosatrienoic acid (14,15-EET), a cytochrome P450 (CYP) metabolite, from hUCB-MSCs and the cerebella of NPC1-mutant mice and investigated the functional consequence of this metabolite. Our screening of the CYP2J family indicated a dysregulation in the CYP system in a cerebellar-specific manner. Moreover, in Purkinje cells, CYP2J6 showed an elevated expression level compared to that of astrocytes, granule cells, and microglia. In this regard, we found that one CYP metabolite, 14,15-EET, acts as a key mediator in ameliorating cholesterol accumulation. In confirming this hypothesis, 14,15-EET treatment reduced the accumulation of cholesterol in human NPC1 patient-derived fibroblasts in vitro by suppressing cholesterol synthesis and ameliorating the impaired autophagic flux. We show that the reduced activity within the CYP system in the cerebellum could cause the neurological symptoms of NPC1 patients, as 14,15-EET treatment significantly rescued cholesterol accumulation and impaired autophagy. We also provide evidence that the intranasal administration of hUCB-MSCs is a highly promising alternative to traumatic surgical transplantation for NPC1 patients.

• Journal of The Korean Ophthalmological Society
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• v.59 no.11
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• pp.1097-1102
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• 2018

Purpose: To report a case of toxic optic neuropathy caused by chlorfenapyr ingestion accompanied by central nervous system involvement. Case summary: A 44-year-old female visited our clinic complaining of reduced visual acuity in both eyes for 7 days. She had ingested a mouthful of chlorfenapyr for a suicide attempt 2 weeks prior to the visit. Gastric lavage was performed immediately after ingestion at the other hospital. Her best-corrected visual acuity was finger count 30 cm in the right eye and hand motion in the left eye. Both pupils were dilated by 5.0 mm and the response to light was sluggish in both eyes. A relative afferent pupillary defect was detected in her left eye. Funduscopy revealed optic disc swelling in both eyes. Magnetic resonance imaging of the brain showed a symmetric hyper-intense signal in the white matter tract including the internal capsule, corpus callosum, middle cerebellar peduncle, and brainstem. The patient was diagnosed with toxic optic neuropathy induced by chlorfenapyr ingestion, and underwent high-dose intravenous corticosteroid pulse therapy. Three days later, the best-corrected visual acuity was no light perception in both eyes. Three months later, optic atrophy was observed in both eyes. Optical coherence tomography revealed a reduction in the thicknesses of the retinal nerve fiber layer and ganglion cell and inner plexiform layer in the macular area. Conclusions: Ingestion of even a small amount of chlorfenapyr can cause severe optic nerve damage through the latent period, despite prompt lavage and high-dose steroid treatment.

• The Journal of Internal Korean Medicine
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• v.40 no.5
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• pp.851-864
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• 2019

Multiple system atrophy is a neurodegenerative disease that causes diverse bodily dysfunctions (cerebellar, pyramidal, automatic, and urological, in any combination), as well as Parkinsonism. Patients with multiple system atrophy commonly display antecollis, a condition where the patient's head tilts forward more than 45 degrees. Despite its common occurrence in these patients, no current standardized therapies are effective for treating antecollis. In this study, Korean medicinal treatments, including Chuna manual therapy, pharmaco-acupuncture, bee venom acupuncture, acupuncture, herbal medicine, and moxibustion therapy, were administered to the patient over a 27-day period. After the treatment, assessments of the head position on the EPIS-PD scale (Part I) and at a standing position from the side (Part II) both revealed improvements. As the head flexion angle decreased, the patient's head posture improved, as determined by a decrease in angle from 80 degrees to 30 degrees in the upright, standing position. As a result, patients who previously were unable to walk without the support of walking frames could now roam freely and independently, with significant increases in both walking speed and distance. In essence, this study suggests that Korean medicine is an effective treatment for patients with multiple system atrophy who suffer from antecollis and gait disorders.

• Journal of the Korean Society of Radiology
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• v.16 no.6
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• pp.761-769
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• 2022

Pads with high dielectric materials have been used in a variety of applications to locally improve the field sensitivity and homogeneity of RF pulses in clinical MRI studies. In this study, we aimed to improve such pads in consideration of the practical problems associated with the application of actual clinical images. A high permittivity pad to increase the attenuated B1 field strength was fabricated and tested in 7T MRI. Sim4Life simulation and experimental results show stronger and relatively uniform B1 near field. In order to improve the image quality in the whole cerebellum, known as a region with low sensitivity, a guide was made to reduce the mechanical change of the pad. In order to improve the wearing comfort, the pad was designed by dividing it into upper and lower parts. The facial pad showed an overall signal increase effect in areas such as the turbinate in the nasal cavity. Signal increase was expected in areas such as the frontal lobe and eyes, but the effect was either insignificant or it was difficult to see the effect in the imaging protocol. In conclusion, this paper showed a cerebellar-optimized pad with an improved nasal signal while maintaining its effectiveness.

• Journal of Korean Neurosurgical Society
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• v.66 no.6
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• pp.672-680
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• 2023

Objective : We evaluated the diagnosis, treatment, and long-term results of patients with dural arteriovenous fistula (dAVF), which is a very rare cause of posterior fossa hemorrhage. Methods : This study included 15 patients who underwent endovascular, surgical, combined, or Gamma Knife treatments between 2012 and 2020. Demographics and clinical features, angiographic features, treatment modalities, and outcomes were analyzed. Results : The mean age of the patients was 40±17 years (range, 17-68), and 68% were men (11/15). Seven of the patients (46.6%) were in the age group of 50 years and older. While the mean Glasgow coma scale was 11.5±3.9 (range, 4-15), 46.3% presented with headache and 53.7% had stupor/coma. Four patients (26.6%) had only cerebellar hematoma and headache. All dAVFs had cortical venous drainage. In 11 patients (73.3%), the fistula was located in the tentorium and was the most common localization. Three patients (20%) had transverse and sigmoid sinus localizations, while one patient (6.7%) had dAVF located in the foramen magnum. Eighteen sessions were performed on the patients during endovascular treatment. Sixteen sessions (88.8%) were performed with the transarterial (TA) route, one session (5.5%) with the transvenous (TV) route, and one session (5.5%) with the TA+TV route. Surgery was performed in two patients (14.2%). One patient (7.1%) passed away. While there were nine patients (64.2%) with a Rankin score between 0 and 2, the total closure rate was 69.2% in the first year of control angiograms. Conclusion : In the differential diagnosis of posterior fossa hemorrhages, the differential diagnosis of dAVFs, which is a very rare entity, should be considered, even in the middle and elderly age groups, in patients presenting with good clinical status and pure hematoma. The treatment of such patients can be done safely and effectively in a multidisciplinary manner with a good understanding of pathological vascular anatomy and appropriate endovascular treatment approaches.

• Journal of the Korean Society of Food Science and Nutrition
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• v.33 no.2
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• pp.262-270
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• 2004

It is well known that long-term heavy ethanol intake causes alcoholic dementia, cerebellar degeneracy or Wernicke-Korsakoff syndrome and aggravates the conditions of many other neuro-psychotic disorders. Recently it is indicated that protein kinase C (PKC) plays an important role in the action of ethanol and in the neuro-adaptational mechanisms under chronic ethanol exposure. In order to investigate the effect of ethanol on PKC isoforms levels within the range of not showing any cytotoxicity, B103 neuroblastoma cell line trans-formed from murine central nervous system was employed and western blot analysis was carried out by using PKC isoform-specific antibodies. The changes of PKC-$\alpha$, ${\gamma}$, $\varepsilon$ and ζ level in the range of ethanol concentration 50∼200 mM were examined at the exposure time 1, 2, 8, 18 and 24 hrs in both cytosolic and membrane fraction. A typical ethanol concentration inducing the PKC isozymes was 100 mM, and the transforming time ranges of PKC isozymes could be considered as two different parts to each PKC isoform such as initial (0∼2 hrs) and prolonged (8∼24 hrs) stages. PKC-${\gamma}$ and PKC-$\varepsilon$ were clearly induced during the prolonged stages in cytosol at 18 hrs, and membrane fraction at 8 hrs and 18 hrs, respectively. On the other hand the PKC-$\alpha$ and PKC-ζ isozymes were largely induced in the prolonged stages at 18 hrs and 24 hrs, where the PKC-$\alpha$ isozyme was induced in both cytosol and membrane fractions at 200 mM ethanol concentration while the PKC-ζ isozyme was induced only in the membrane fractions at 100,200 mM. At 200 mM ethanol concentration of 24 hrs incubation in the prolonged stage, the PKC-$\alpha$ was maximally induced by 150% of the control values whereas the PKC-${\gamma}$ was significantly decreased to 47% of the control values. These results suggest that 100∼200 mM ethanol may modulate the signal transduction and neurotransmitter release in the central nervous system through the regulation of PKC isozymes, and the action of these isoforms may act differently each other in the cell.

• The Korean Journal of Nuclear Medicine
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• v.30 no.3
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• pp.299-314
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• 1996

The purpose of the present study was to validate the use of tissue radioactivity ratios instead of regional metabolic rates for the assessment of regional metabolic changes in Alzheimer's disease(AD) with [$^{18}F$]FDG PET and to examine the correlation of ratio indices with the severity of cognitive impairment in AD. Thirty-seven AD Patients(age $68{\pm}9 yrs$, $mean{\pm}s.d.$; 36 probable and 1 definite AD), 28 patients with dementia of non-Alzheimer type(age $66{\pm}7 yrs$), and 17 healthy controls(age $66{\pm}4 yrs$) underwent [$^{18}F$]FDG PET imaging. Two simplified radioactivity ratio indices were calculated from 37-66 min image: region-to-cerebellar radioactivity ratio(RCR) and a composite radioactivity ratio(a ratio of radioactivity in the most typically affected regions over the least typically affected regions: CRR). Local cerebral metabolic rate for glucose(LCMRglu) was also measured using a three-compartment, five-parameter tracer kinetic model. The ratio indices were significantly lower in AD patients than in controls(RCR in temporoparietal cortex, $0.949{\pm}0.136$ vs. $1.238{\pm}0.129$, p=0.0004; RCR in frontal cortex, $1.027{\pm}0.128$ vs. $1.361{\pm}0.151$, p<0.0001; CRR, $0.886{\pm}0.096$ vs. $1.032{\pm}0.042$. p=0.0024). On the RCR analysis, 86% of AD patients showed a pattern of bilateral temporoparietal hypometabolism with or without frontal involvement; hypometabolism was unilateral in 11% of the patients. When bilateral temporoparietal hypometabolism was considered to be suggestive of AD, the sensitivity and specificity of the RCR analysis for the differential diagnosis of AD were 86% and 73%, respectively. The RCR was correlated significantly with the macroparameter K [$K_1k_3/(k_2+k_3)$] (r=0.775, p<0.0001) and LCMRglu(r=0.633, p=0.0002) measured using the kinetic model. In patients with AD, both average RCR of cortical association areas and CRR were correlated with Mini-Mental Status Examination(r=0.565, p=0.0145; r=0.642, p=0.0031, respectively), Clinical Dementia Rating(r=-0.576, p=0.0124; r=-0.591, p=0.0077), and total score of Mattis Dementia Rating Scale (r=0.574, p=0.0648; r=0.737, p=0.0096). There were also significant correlations between memory and language impairments and corresponding regional RCRs. The results suggest that the [$^{18}F$]FDG PET ratio indices, RCR and CRR, reflect global and regional metabolic rates and correlate with the severity of cognitive impairment in AD. The simplified ratio analysis may be clinically useful for the differential diagnosis and serial monitoring of the disease.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.891-895
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• 2007

Purpose : Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system and mostly develops after viral illness or vaccinations. We investigated the clinical differences and neurologic outcomes according to the distribution of the lesions on brain MRI. Methods : The study group was composed of 21 patients from January 1995 to August 2003 in Kyunghee University hospital. We grouped the patients according to the MRI findings as follows. Group I (14 cases): Multi- or unifocal lesions only in the cerebral white matter. Group II (7 cases): lesions in the gray matter with or without white matter involvement. Results : 1. Preceding events were as follows: no defined prodrome (38.1%), upper respiratory tract infection (28.6%), nonspecific febrile illness (19.0%), gastointestinal disturbance and vaccination. 2. Presenting symptoms were as follows: seizures (76.2%), headache/vomiting (47.6%), altered consciousness (38.1%), hemiparesis, cerebellar ataxia, visual disturbance and facial nerve palsy. 3. Laboratory findings were as follows: CSF pleocytosis (76.2%), leucocytosis (38.1%) and elevated CSF protein (28.6%). 4. Fifteen patients were recovered completely without neurological sequelae. Three patients in group I and 1 patient in group II had intractable seizures. Two patients in group I and 2 patients in group II had motor disturbance. Conclusion : There were no statistically significant differences in preceding events, presenting symptoms, and neurological outcomes according to the distribution of the lesions on brain MRI. However, the ADEM have quite diverse clinical manifestations and neuroimage findings. MRI plays an important role in making diagnosis of the patients who are suspected of ADEM.