• Journal of the Korea Academia-Industrial cooperation Society
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• v.18 no.12
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• pp.352-358
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• 2017

Frontotemporal dementia, the second most common cause of early onset dementia, is a neurodegenerative clinical syndrome characterized by progressive deficits in behavior, executive function and language. Although motor symptoms in frontotemporal dementia are represented by motor neuron disease, parkinsonism and progressive supranuclear palsy syndrome, there have been no reports of motor weakness caused by the direct involvement of central motor nervous systems in frontotemporal dementia. Moreover, no association between clinical dementia groups and complex regional pain syndrome has been reported. We diagnosed a rare case with motor weakness and complex regional pain syndrome of lower limbs due to central nervous system lesion in a patient with frontotemporal dementia by magnetic resonance imaging, electrodiagnostic study and three phase bone scan. Following steroid therapy for complex regional pain syndrome, pain was improved. Functional improvement was noted after rehabilitation therapy, including functional electrical stimulation, muscle strengthening exercise and gait training during hospitalization. This case report suggests that rehabilitation therapy for motor weakness in frontotemporal dementia could be effective for improving overall function.

• Korean Journal of Psychosomatic Medicine
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• v.5 no.1
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• pp.89-96
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• 1997

This study was designed to determine whether cognitive impairment was evident in patients with SLE. Also, it aimed to examine the association of cognitive impairment with other clinical variables. The subjects consisted of 20 patients with mildly active SLE and 20 healthy controls. Methods : A total of 20 SLE patients and 20 normal controls completed a computerized neuropsychological test battery using Vienna Test System. These included Cognitrone test, Continuous attention test, Corsi block tapping test, Standard progressive matrices. Also, neuro-behavioral cognitive status examination was done. The symptom severity of depression was measured with Beck Depression Inventory, Hamilton Depression Rating Scale, and current medications were documented. Disease activity was rated using the SLE diasease activity index (SLEDAI). Results : SLE patients had poorer performance than normal controls on the tests of Cognitrone, attention, nonverbal IQ and memory, independent of age, education, disease activity, steroid use and depression status. Conclusion : Cognitive dysfunction was not uncommon in ambulatory SLE patients as measured by standardized neuropsychological tests. It seemed to occur independently of various clinical variables. These findings would suggest that cognitive dysfunction in SLE may be explained by reflecting subclinical central nervous system(CNS) involvement, rather than coexisting psychological distress due to chronic illness or side effect of medication.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.12
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• pp.5217-5221
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• 2016

Objective: A study of primary cancer morbidity among children and subsequent calculation of average annual incidence were carried out for boys and girls, and young men and women in Kazakhstan. Methods: The investigated population lived in three areas of the Aral Sea region: designated catastrophe (Aral, Kazalt, Shalkar regions), crisis (Zhalagash, Karmakshy, Shiely regions), pre-crisis (Irgiz, Arys, Ulytau regions). Zhanaarka region of Karaganda oblast was applied as a control. Parameters were retrospective analyzed for the 10 years from 2004 to 2013. Result: The results indicate that indices of children cancer morbidity were slightly higher in the Aral Sea region than in the control district, but they were comparable with similar data from studies in other regions. In all areas of the Aral Sea region, except for Ulytau, primary cancer morbidity exceeded the control level by 1.3-2.7 times (4.7%000). Hematological malignancies, including solid tumors - tumors of musculoskeletal system and skin, digestive system, brain and central nervous system predominated. Stress levels in zones of the Aral Sea region were slightly higher in the crisis zone than in the catastrophe zone that can be explained by the phenomenon of wave-like dynamics of disease growth risk. Gender differences in characteristics of malignancy formation were not more pronounced in the studied region. Conclusion: Indices of children cancer are slightly higher in the Aral Sea region than in the control area of Kazakhstan, but they are comparable to results for other regions.

• Journal of the Korean Chemical Society
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• v.50 no.2
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• pp.123-128
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• 2006

Behcet's disease (BD) is a systemic vasculitis characterized by recurrent oral and genital ulcers, and ocular inflammation, and which may involve the joints, skin, central nervous system and gastrointestinal tract. Although the exact pathogenesis for BD is not completely understood, it has been suggested that the disease is triggered in genetically susceptible individuals by environmental factors, such as microbial agents. It is noted that multiple genes, including MHC (major histocompatibility complex) and non-MHC genes, are implicated in the pathogenesis of BD. This study tries to determine whether IL-6 gene polymorphisms are associated with susceptibility to Behcet's disease in Koreans. Gene polymorphisms were typed by VNTR (variable number of tandem repeat), RFLP (restriction fragment length polymorphism), DHPLC (denaturing high performance liquid chromatography).There were no evidences for genetic association conferred by the IL-6prom polymorphism. However, significant differences in the IL-6vntr genotype and allele frequencies were found between patients with BD and controls. The IL-6vntr*C allele appeared to be an additional susceptibility gene to Korean BD. Further studies in other populations and gene are required to confirm these results.

• The Korea Journal of Herbology
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• v.23 no.2
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• pp.159-168
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• 2008

Objectives : The present study has been undertaken to investigate the effects of Dipsaci Radix on Muscle Fiber Atrophy and MyoD Expression in Gastrocnemius of MCAO Rats Methods : In order to investigate effects of Dipsaci radix on the skeletal muscle atrophy following stroke, cerebral infarct was induced by the middle cerebral artery occlusion (MCAO) in the rats. Water extract of Dipsaci radix (184.4 mg/100 g) was treated for 4 weeks, once a day orally, after the MCAO. Effects were evaluated with muscle fiber type composition and cross-sectioned area of muscle fibers in gastrocnemius of the unaffected & affected hind limbs. And MyoD protein expression in gastrocnemius was demonstrated with immunohistochemistry and western blotting. Results : Obtained results were as follows; 1. Infarct volume was not attenuated by Dipsaci radix treatment in the MCAO rats. 2. At the affected-side hind limb of the MCAO rats, the increase of type-I fibers and the decrease of type-II fibers were induced by Dipsaci radix treatment. 3. At the affected-side hind limb of the MCAO rats, decreases of cross-sectioned areas of type-I and type-II fibers were attenuated by Dipsaci radix treatment. 4. At the affected-side hind limb of the MCAO rats, MyoD positive cells were increased by Dipsaci radix treatment. 5. At the affected-side hind limb of the MCAO rats, MyoD expressions were increased by Dipsaci radix treatment. Conclusions : These results suggest that Dipsaci radix has a protective effect against muscle atrophy, through the inhibition of the muscle cell apoptosis, following the central nervous system demage.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.22-37
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• 2007

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.

• Tuberculosis and Respiratory Diseases
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• v.62 no.6
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• pp.549-553
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• 2007

Sarcoidosis is a multi-systemic syndrome of an unknown etiology, and it is characterized by the formation of multiple noncaseating granulomas that disrupt the architecture and function of the tissues in which they reside. The most commonly affected organs are lung, skin and lymph nodes. Overt clinical involvement of the nervous system is uncommon and this occurs in about 5% of all patients during the course of their disease. The most common manifestations are granulomatous leptomeningitis, cranial nerve palsy, electrolyte or other endocrinologic abnormalities, but isolated memory impairment is a rare manifestation. This is a case of 59 years-old male with recent memory impairment, and he was previously diagnosed with pulmonary sarcoidosis by transbronchial lung biopsy. The brain MRI imaging revealed the leptomeningeal and parenchymal involvement of sarcoidosis. He was treated with high dose corticosteroid and his memory function was improved to nearly a normal level. We report here on a case of successful treatment of pulmonary sarcoidosis combined with neurosarcoidosis with using high dose corticosteroid, and the patient presented with recent memory impairment.

• Journal of Chest Surgery
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• v.41 no.6
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• pp.718-723
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• 2008

Background: The advances in surgical techniques, anesthesia management, perfusion methodology and postoperative intensive care have markedly decreased the mortality and cardiac morbidity of patients who undergo heart surgery over the past 2 decades. Nevertheless, it is well recognized that cardiac surgery carries a substantial risk for central nervous system complications. This study was conducted to evaluate the prevalence of subclinical cerebrovascular lesions in the head and neck by performing magnetic resonance angiography (MRA), and we investigated the clinical course of patients who had abnormal lesion seen on head and neck MRA. Material and Method: The subjects were 107 patients (71 men and 36 women ranging in age from 21 to 83 years) who were scheduled for cardiac surgery under nonemergency conditions between October 2005 and June 2008. Informed consent was obtained before the MRA. The carotid arteries, intracranial arteries and brain parenchyme were examined for subclinical cerebrovascular lesions by performing MRA. We reviewed the patients' medical records and MR findings to evaluate the prevalence of neurologically high risk patients and their clinical course. Result: The overall prevalence of neurologically high risk patients was 15.7% (17 patients). Among these patients, 11 patients had ischemic heart disease and 6 patients had valvular heart disease. Only 2 patients had a history of cerebrovascular disease. The clinical courses of 14 patients (13.1%) were changed according to their MRI findings. Conclusion: The prevalence of subclinical cerebrovascular disease in patients who were scheduled for cardiac surgery was higher than was expected. MR angiography was of value to identify these patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.49-53
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• 2012

X-linked adrenoleukodystrophy (ALD) is a rare inherited metabolic disease which results in impaired peroxisomal ${\beta}$-oxidation and the accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex, the myelin of the central nervous system, and the testes. X-linked ALD is caused by mutations in the ABCD1 gene encoding an ATP-binding cassette transporter superfamily located in the peroxisomal membrane. This disease is characterized by a variety of phenotypes. The classic childhood cerebral ALD is a rapidly progressive demyelinating condition affecting the cerebral white matter before the age of 10 years in boys. We report the case of a 8-year-old with childhood cerebral X-linked ALD who developed inattention, hyperactivity, motor incoordination and hemiparesis. We diagnosed ALD with elevated plasma very long chain fatty acid level and diffuse high signal intensity lesions in both parieto-occipital white matter and cerebellar white matter in brain MRI. We identified a novel c.983delT (p.Met329CysfsX7) mutation of the ABCD1 gene. There is no correlation between X-ALD phenotype and mutations in the ABCD1 gene. Further studies for searching additional non-genetic factor which determine the phenotypic variation will be needed.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.2
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• pp.96-100
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• 2016

Metachromatic leukodystrophy (MLD) is a progressive and degenerative neurological disease caused by a deficiency of the catabolic enzyme arylsulfatase A. Deficiency of arylsulfatase A results in accumulation of sulfatide in the white matter of the peripheral and central nervous system and it occurs demyelination as a result. The patient gradually goes through mental and motor failure. General symptoms of MLD include gait disturbance, mental deterioration, muscle rigidity and impaired swallowing. Inheritance of the disease is autosomal recessive. We report a dental caries treatment of a 3-year old boy with MLD. The patient underwent hematopoietic stem cell transplantation (HSCT) to slow the progression of the disease. He was suffered from difficulties of mastication and swallowing from the degenerative neurological symptom. He was ingesting food by both oral feeding and tubal feeding after he took percutaneous endoscopic gastrostomy (PEG). The cause of multiple caries was mainly presumed as patient's prolonged time of meal. The treatment was performed under general anesthesia considering patient's incompliance. Severely affected lower primary molars were treated with pulp treatment and restored with stainless steel crown. Others were restored with composite resin. There were no postoperative complications. MLD is life threatening progressive disease and also has an impact on unfavorable condition for oral health. Routine home oral care and periodic professional dental care should be emphasized to the caregiver of patient considering the susceptibility of dental caries. Not only the medical care, but periodic dental office visit would benefit the quality of life of the patient.