• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.55-62
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• 2017

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.

• Korean Journal of Psychosomatic Medicine
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• v.22 no.1
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• pp.40-45
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• 2014

Objectives : Mild cognitive impairment(MCI) and dementia of Alzheimer's type(AD) are characterized by progressive decline of cognitive abilities and a wide range of neuropsychiatric symptoms like depression. Among various diagnostic tools of AD, many studies showed that elevated levels of serum total homocysteine are associated with increased risk of developing Alzheimer's disease, depression and other neuropsychiatric disorders. We investigated whether elevated homocysteine concentrations are associated with depressive symptoms in MCI and AD. Methods : A total of 86 patients diagnosed with MCI or AD participated. Total serum homocysteine levels in fasting blood samples were measured. We examined cognitive symptoms by MMSE-KC, Global Deterioration Scale(GDS), Clinical dementia rating(CDR) and depressive symptoms by Korean version of Geriatric Depression Scale(K-GDS). Results : The total serum homocysteine levels were significantly higher in MCI with depression than in MCI without depression. There was no significant difference in the mean homocysteine levels between AD patients with depression and AD patients without depression. The total homocysteine levels showed a negative correlation with MMSE-KC and a positive correlation with CDR, GDS. Conclusions : These findings suggest that elevated homocysteine level is a risk factor for the decline of cognitive function and depression. We found a significant relationship between elevated serum homocysteine level and depressive symptoms in MCI. But our study had several limitations, thus more research is needed to confirm this finding.

• Tuberculosis and Respiratory Diseases
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• v.64 no.1
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• pp.48-51
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• 2008

Chronic expanding hematoma of the thorax is a specific subtype of the chronic empyema. It presents as a slowly expanding intrathoracic mass which result in dyspnea or recurrent hemoptysis. The symptoms develop months or years after tuberculous pleurisy, trauma or surgery. Usually, it shows three common findings: a giant mass lesion in the thorax, some surrounding calcifications, the absence of signs or symptoms of infection. We report a case of chronic expanding hematoma of the thorax, initially presenting as massive hemoptysis through bronchopleural fistula which resulted in radiologic findings of new air-fluid level within the previous pleural lesion filled with unknown materials.

• Journal of the korean academy of Pediatric Dentistry
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• v.26 no.3
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• pp.473-478
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• 1999

Osteopetrosis is an uncommon hereditary bone condition characterized by a generalized symmetric increase in skeletal density and abnormalities of bone resorption remodeling. In 1904, the first case of generalized sclerosis of the skeleton was reported by $Albers-Sch\ddot{o}nberg$. Osteopetrosis is generally divided into two main type. The infantile(malignant, congenita) type is the most severe form of the disease; It is characterized by skeletal and hematologic abnormalities. The adult(benign, tarda) type which is usually diagnosed in the third or fourth decade of life is limited predominantly to skeletal anomalies and it carries a more favorable prognosis. The recently recognized intermediate form with its mild and variable clinical recessive trait. There is no reported gender or racial predilection. The characteristic feature of osteopetrosis which is an abscence of physiologic bone resorption results in accumulation of bone mass and mainfests skeletal disturbance. Dental finding of osteopetrosis includes delayed eruption, congenitally absent teeth, unerupted and malformed teeth, and enamel hypoplasia. Our report involves a patient with a chief complaint of tooth mobility and delayed eruption. After clinical and radiologic examination, this patient was referred to dept. of pediatrics under the suspicion of osteopetrosis and it was confirmed.

• Journal of the Korea Convergence Society
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• v.9 no.8
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• pp.101-108
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• 2018

This study aimed to investigate the blood glucose regulatory effect of barley noodles contained mulberry leaves water extract (MLWE) in diabetic mice in order to provide fundamental data as a functional food. ICR mice were divided into six groups as follows: normal control, positive control, barley control, mulberry control, barley+MLWE 2.5% and barley+MLWE 5% groups. High fat/high carbohydrate diet was fed for 4 weeks and diabetes mellitus was induced by i.p. injection of streptozotocin and nicotinamide. After diabetes induction, experimental diet was supplemented for 2 weeks and simultaneous measurement of body weight, blood glucose (including glucose tolerance test), liver function and blood lipid profile was conducted. As a result, there was less decrease in body weight compared to the positive control group in the groups that supplemented barley and MLWE together than the group ingesting barley and MLWE alone. In addition, regulatory effects on blood glucose, liver function and blood lipid concentration were also stronger in barley and MLWE concurrently supplemented groups. Consequently, combination of barley and MLWE was effective in the regulation of body weight, blood glucose, liver function, and blood lipid in diabetic mice. Therefore, this recipe could be a promising strategy for beneficial effects in the patients of diabetes mellitus.

• Journal of the Korean Society of Food Science and Nutrition
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• v.35 no.5
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• pp.530-535
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• 2006

This study was conducted to investigate the effects of Mesangi (Capsosiphon fulvescens, CF, a green alga) on lipid metabolism in rats, which was examined by analyzing the lipid composition in serum. Male Sprague-Dawley rats were assigned to one of three groups: the basal diet, high cholesterol, and high cholesterol supplemented with 5% dry Mesangi powder (CF-supplemented group). The body weight gains and food efficiency ratios of the rats fed the CF-supplemented diet were lower than those of the rats fed the basal diet. The levels of total lipid, total cholesterol, and LDL-cholesterol in serum were reduced in the CF-supplemented group as compared to the cholesterol group. However, the level of HDL-cholesterol in blood increased with the addition of CF to the diet. Furthermore, levels of total lipid and cholesterol of liver in experimental group fed CF were significantly lower than the cholesterol group. A decrease in leptin expression levels was observed in the CF-supplemented group as compared to the cholesterol group. These results suggest that the addition of CF in hypercholesterolemic rats has an effect on the improvement of serum and liver levels of cholesterol, which may be related to the regulation of the atherogenic index and lipid metabolism in rats fed CF.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.1
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• pp.96-101
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• 2009

Regional odontodysplasia(ROD) is relatively rare localized developmental anomaly of tooth formation in which hard tissue is affected. The maxilla is typically affected than the mandible, and especially the maxillary left quadrant is the most commonly involved. Females are affected twice as often as males, and there is no association with race. Its etiology remains undetermined, but local circulatory disorders, somatic mutations, virus infections, local trauma, hyperpyrexia, irradiation, metabolic disturbances, and hereditary transmission are considered as possible etiologic factors. The affected teeth are likely to be small, hypoplastic, brown, and grooved. Eruption failure or delay is frequently seen as well as abscess or fistulae formation in absence of caries. Radiographically, there is a lack of contrast between the enamel and dentin, both of which are less radiopaque than unaffected counterparts. Moreover, enamel and dentin layers are thin, giving the teeth a “ghost-like appearance”. The pulp chambers and canals are large, the roots seem like to be short and indistinct. A 2-year-3-month old boy came to the department of pediatric dentistry, Yonsei University, with the chief complaint of delayed eruption and abnormal tooth shape on the lower left quadrant. He was diagnosed as regional odontodysplasia based on the clinical and radiographic findings.

• Tuberculosis and Respiratory Diseases
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• v.56 no.5
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• pp.550-554
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• 2004

A paragonimiasis infestation is caused by the paragonimus species. It is commonly found in the lung but has also been found to exist extrapulmonary infestations including cerebral, spinal, subcutaneous, hepatic, splenic, abdominal, urinary, and gynecologic infestation. On the other hand, a cutaneous infestation is extremely rare. Human infestation is caused by ingesting raw or undercooked intermediate hosts. Because paragonimus westermani larva mature to an adult worm in the lung, the possibility of identifying the adult worm of paragonimus westermani at extrapulmonary region is very rare. Case : After ingesting a fresh-water crab 1 month prior to the hospital visit, a 45-year old female patient was suffering from right pleuritic chest pain during that 1 month. The patient also complained of a palpable mass that was movable and migrating, and it was localized at the right upper quadrant of the abdomen. The eosinophil fraction of the white blood cell of peripheral blood and pleural fluid was elevated to 55.1% and 90%, respectively. Parasite eggs were not found in her sputum and stool examination. By using the enzyme-linked immunosorbent assay (ELISA), the paragonimus-specific IgG antibody titer was elevated to 0.28. During incisional biopsy, we were able to find the young adult worm of paragonimus westermani. We experienced the rare case of ectopic paragonimiasis with pleural effusion that was confirmed by identifying the adult worm of paragonimus westermani within the abdominal subcutaneous tissue. We report a case with brief literature reviews.

• Journal of the Korean Society of Food Science and Nutrition
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• v.43 no.4
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• pp.491-497
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• 2014

This study investigated the effects of alginate oligosaccharide on lipid metabolism in mice fed a high-cholesterol diet for 6 weeks. Male apoE mice were assigned to four groups: normal diet group (N), high-cholesterol diet group (HC), HC with 5% alginate oligosaccharide group (HC-AOL), and 10% alginate oligosaccharide group (HC-AOH). Epididymal adipose tissue and kidney adipose tissue weights were significantly reduced in the HC-AOH group by 131.4% and 148.4%, respectively, as compared to the HC group. Serum total cholesterol (TC), triglyceride (TG), and LDL-cholesterol levels were also significantly reduced in the HC-AOH group by 57.5%, 51.4%, and 82.9%, respectively, as compared to the HC group. Hepatic TC and TG levels in the HC-AOH group were significantly reduced by 72.3% and 33.5%, respectively, as compared to the HC group. These results indicate that alginate oligosaccharide might improve lipid metabolism and reduce fat accumulation.

• Journal of Life Science
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• v.26 no.11
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• pp.1330-1335
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• 2016

Sasa species leaves have been used in traditional medicine for their anti-inflammatory, antipyretic, and diuretic properties. Sasa quelpaertensis Nakai is a small bamboo grass that grows only on Mt. Halla on Jeju Island, Republic of Korea. This small bamboo grass has recently been the focus of much attention due to its potential biomass as well as its beneficial health effects. In this study, to promote the efficient utilization of the S. quelpaertensis leaf, we established a simple preparation method for phytochemical-rich extract (PRE) by comparing phytochemical contents and biological activities according to extraction methods. high performance liquid chromatography (HPLC) analysis revealed that the contents of two major phytochemicals such as, tricin (5.35 mg/g) and p-coumaric acid (44.10 mg/g) contained in PRE were higher than those in fresh hot water extract (SQH, p-coumaric 23.39 mg/g, tricin 0.18 mg/g) and ethanol extract (SQE, p-coumaric 10.8 mg/g, tricin 0.38 mg/g). The antioxidant activities [1,1-diphenyl-2-picrylhydrazy (DPPH) radical scavenging activity, 2,2'-azino-bis-3-ethylbenzothiazoline-6-sulphonic acid (ABTS) radical scavenging activity, nitric oxide (NO) scavenging activity, and xanthine oxidase inhibitory activity] of PRE were higher than those of SQH and SQE. PRE effectively inhibited NO production in LSP- stimulation RAW 264.7 cells, and the growth of human promyelocytic leukemia (HL-60) cells. These results suggest that PRE has a potential as a promising antioxidant and anti-inflammatory agent.