• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.40-43
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive mitochondrial disorder of fatty acid oxidation associated with mutations in the ACADS gene. While patients diagnosed clinically have a variable clinical presentation, patients diagnosed by newborn screening are largely asymptomatic. We describe here the case of a 1-year-old male patient who was detected by newborn screening and diagnosed as SCAD deficiency. Spectrometric screening for inborn errors of metabolism at 72hrs after birth showed elevated butyrylcarnitine (C4) level of 1.69 mol/L (normal, <0.83 mol/L), C4/C2 ration of 0.26 (normal, <0.09), C5DC+C60H level of 39 mol/L (normal, <0.28 mol/L), and C5DC/C8 ration of 7.36 (normal, <4.45). The follow-up testing at 18 days of age were performed: liquid chromatography tandem mass spectrometry (LC-MS/MS), urine organic acids, and quantitative acylcarnitine profile. C4 carnitine was elevated as 0.91; urine organic acid analysis showed elevated ethylmalonic acid as 62.87 nmol/molCr (normal, <6.5), methylsuccinate 6.81 nmol/molCr (normal, not detected). Sequence analysis of ACADS revealed a homozygous missense mutation, c.164C>T (p.Pro55Leu). He is growing well and no episodes of seizures or growth retardation had occurred.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.1-8
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• 2005

Glutaric acidemia (GA) type II is a very rare inherited disorder that have no accruate figure on its icidende. People with Glutaric acidemia type II have an enzyme that does not work properly. Two specific enzymes are associated with Glutaric acidemia type II:1. Electron transfer flavoprotein (ETF), 2. ETF-ubiquinone oxidoreductase (ETF-QO). Both of these enzymes have similar functions in the body, and children with Glutaric acidemia type II may lack one or the other of these enzymes. They play an important role in breaking down fats and proteins, and help the body to produce energy. GA II clinically manifested as (1) neonatal onset with congenital anomalies (2) neonatal onset without anomalies, and (3) mild and/or later onset. The first two groups are sometimes said to have multiple acyl CoA dehydrogenation deficiency-severe and the third to have multiple acyl CoA dehydrogenation deficiency-mild. The course and age at presentation of later-onset glutaric acidemia type II is extremely variable, therefore it is difficult to diagnosis. We experienced one case of late onset form glutaric acidemia type II with afebrile status epilepticus-like convulsion.

• The Journal of the Korea Contents Association
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• v.11 no.5
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• pp.233-241
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• 2011

The purpose of this study was to investigate the correlation between ultrasonographic findings used to diagnose and assess of torticollis and a overall special assessment of congenital muscular torticollis in infants. Seventy-eight subjects with congenital muscular torticollis participated in this study. All the patients were divided into one of four clinical types according to the sternocleidomastoid muscle fibrosis noted on the ultrasonographic findings, and they were divided into one of three subgroups according to the degree of disability on the overall special assessment score of torticollis. For the ultrasonographic classifications of the 78 patients, 42(53.8%) made up the first type, 21 (26.9%) made up the second type, 7 (9.0%) made up the third type, and 8 (10.3%) made up the fourth type. Multivariate analysis of the results showed that the age at presentation was significantly different according to the ultrasonographic subtypes (p<0.01). There was significant correlation between the ultrasonographic findings and the torticollis overall assessment for patients with congenital muscular torticollis (${\phi}$=0.893, p<0.01). According to the results of this study, the use of the simple and objective torticollis overall assessment will be useful for the evaluation of torticollis in the future.

• Journal of Veterinary Clinics
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• v.26 no.6
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• pp.606-611
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• 2009

Five dogs diagnosed as apocrine gland adenocarcinoma (AGAC) of the anal sac based on cytology and/or histology. Mean age of these dogs was 11 years old. One dog treated with supportive care without other medical interventions for hypercalcemia was died one month after diagnosis. Other four dogs were treated with chemotherapy and one of these dogs was intervened with complete surgical resection. Two months after the diagnosis, one of the dogs treated with chemotherapy died. The survival time of other survived three dogs from the time of diagnosis was 19, 9, and 13 months respectively and they are still alive at this time. After chemotherapy, three dogs were managed generally in good body condition and maintained as similar in size as time of diagnosis. The results are suggested that it is worthwhile to try chemotherapy for managing AGAC in dogs especially complicated or metastasized to regional lymph nodes.

• The Journal of the Korean bone and joint tumor society
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• v.18 no.1
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• pp.1-6
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• 2012

Purpose: The purpose of this study was to analyze the results of treatment and prognosis of Marjolin's ulcer compared with primary squamous cell carcinoma. Materials and Methods: Fourteen patients treated for Marjolin's ulcer were analyzed. Twenty patients with primary squamous cell carcinoma treated during the same time period was the control group. Mean age was 61.2 years. There were 24 males and 10 females. The locations, TNM stages, histological grades, recurrence, metastasis, and survival rate were analyzed and compared between two groups. Results: The mean follow-up period was 54.8 months (range, 12-168 months). Local recurrences were found in 6 cases, 5 ones in Marjolin's ulcer patients, and one case in primary squamous cell carcinoma patients. The mean time interval between the initial presentation and occurrence of local recurrences was 9 months (range, 2-20 months). There were 6 metastases. 2 (14.3%) metastases were found in Marjolin's ulcer patients, and 4 (20.0%) metastases in primary squamous cell carcinoma patients. Total events (metastasis or local recurrence) were found in 10 pateients, 6 of them in Marjolin's ulcer group, and the remaining four in primary group. 5-year disease-free survival rate was 64.3% in Marjolin's ulcer group and 95.0% in primary squamous cell carcinoma group. Conclusion: Squamous cell carcinomas originating as Marjolin's ulcers revealed higher recurrence rate and lower survival rate despite of aggressive treatment. Therefore, new treatment modalities should be developed for improving outcomes.

• Journal of the Korean Magnetics Society
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• v.14 no.4
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• pp.149-161
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• 2004

The fusion of nano technology and information technology is essential to sustain the present growth rate and to induce new industry in this ever-growing information age. Considering Korean industry whose competitiveness lies heavily on information related technologies, this field will be inevitable for future. Nano materials can be described as novel materials whose size of elemental structure has been engineered at the nanometer scale. Materials in the nanometer size range exhibit fundamentally new behavior, as their size falls below the critical length scale associated with any given property. " Bottom-up' techniques involve manipulating individual atoms and molecules. Bottom-up process usually implies controlled or directed self assembly of atoms and molecules into nano structures. It resembles more closely the processes of biology and chemistry, where atoms and molecules come together to create structures such as crystals or living cells. Nano scale sensors are included in the electronics area since the diverse sensing mechanisms are often housed on a semiconductor substrate and usually give rise to an electronic signal. The application of nano technology to the chemical sensors should allow improvements in functionality such as gas sensing. In this presentation, we will discuss about the nano scale information materials and devices fabricated by using the organic/inorganic nano templates.

• Korean Journal of Bronchoesophagology
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• v.3 no.2
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• pp.277-286
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• 1997

We have reviewed a 9-year experience with 47 patients treated for salivary tumors which arose In the parotid gland (23 patients; 48.9%), submandibular gland (15 Patients, 31.9%), minor salivary gland (8 patients; 17.0%), and sublingual gland (1 patient; 2.1%). The age of patients ranged from 12 to 71 with a mean of 42.9 years. The male to female ratio showed a female preponderance, 19:28 (1:1.5). An asymptomatic mass (91.5%) was most common presentation. With fine-needle aspiration, the predictive value of a neoplasm was 88.9%. Histopathologically, the most common salivary gland tumors was Pleomorphic adenoma(57.4%). The pleomorphic adenoma was most common in benign tumor group, and the mucoepidermoid carcinoma was most common in malignant tumor group. Of the salivary gland tumors, the incidence of cervical metastasis was 22.2%. Major postoperative complications were facial nerve paralysis and wound infection.

• Tuberculosis and Respiratory Diseases
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• v.68 no.2
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• pp.74-79
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• 2010

Background: Legionella pneumophila has been recognized as an important cause of pneumonia. However, limited data are available in the literature regarding legionella pneumonia in Korea. The objective of this study was to compare epidemiological data and clinical presentation of legionella pneumonia and pneumococcal pneumonia. Methods: We retrospectively compared clinical, radiological, and laboratory data, antimicrobial treatment, and treatment outcomes between 28 cases of legionella pneumonia and 56 cases of pneumococcal pneumonia. Diagnoses of both legionella and pneumococcal pneumonia were based on commercial urinary antigen tests. Results: Legionella pneumonia patients included 23 men and 5 women, with a mean age of 61.6 years (range 36~88). Fifteen were smokers and 26 had some underlying diseases. Legionella pneumonia occurred more frequently in healthcare-associated settings than pneumococcal pneumonia (42.9% vs 21.4%, respectively, p=0.040). There were no significant differences in clinical signs and symptoms. Compared to patients with pneumococcal pneumonia, patients with legionella pneumonia presented more frequently with anemia (39.3% vs 8.9%, p=0.001), increased C-reactive protein (57.1% vs 30.4%, p=0.018) and increased alkaline phosphatase (46.4% vs 16.1%, p=0.003). Also, legionella pneumonia patients more often showed pleural effusion on simple chest X-rays (50.0% vs 12.5%, p<0.001). Conclusion: Legionella pneumonia and pneumococcal pneumonia can not be distinguished by clinical manifestations alone. However, legionella pneumonia occurred as a healthcare-associated pneumonia more frequently and was more often associated with anemia and increased CRP and alkaline phosphatase levels.

• Research in Community and Public Health Nursing
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• v.11 no.2
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• pp.499-512
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• 2000

The number of deliveries by cesarean section has increased internationally. However, The cesarean section rate is different by country to country. It is because each country has different social and cultural background and. practices its unique delivery policies. Hence, it is very important to understand the uniqueness that one country faces related with the cesarean section. In Korea, there have been many researches on the clinical. maternal. hospital and community factors and so on. However, few studies have attempted to reveal the physician factors in Korea because it is difficult to approach hospital records. So, in this study, the physician factors that influence the increase of cesarean section rate in Korea was investigated, and preliminary research agenda for policy establishment to keep the cesarean section rate from excessive increase was provided. In this study, all 2744 cesarean section deliveries performed by 36 physicians at the hospital was considered. and detailed delivery records of 12 months selected randomly from January 1996 to August 1998 was reviewed retrospectively. Chi-square analysis is used to examine the homogeneity of distribution of maternal, fetal, and clinical factors. In addition, multiple regression analysis is used to examine the effect of physician characteristics on the cesarean section rate. Physician characteristics as independent variable and the cesarean section rate as dependent variable was put in this analysis. Follows are the results of this study. 1) Total cesarean section rate is 34.8%. primary cesarean section rate is 12.5 % and repeated cesarean section rate is 22.3 %. Among the indications for the primary cesarean section, 15.6 % is for breech presentation. 40.2 % is for dystocia. 7.6 % is for fetal distress. and 36.6 % is for others. 2) There is positive correlation between physician's age and the cesarean section rate (p<0.001). And statistically significant correlation is found between the physician's educational attainment and the cesarean section rate (p<0.001). A physician with Ph.D degree has lower cesarean section rate than a physician with B.A only and M.A. degree (p<0.001). However. physician's gender, location of graduated university. position at the hospital, and the religious belief were not shown statistically significant relations with the cesarean section rate. 3) Among all cesarean sections in this study, only 15.4 % is performed during weekend. While 18.2 % is performed on monday only. This suggests that physicians may not prefer weekend operation of cesarean section. In addition, 86.1 % among all cesarean section operations is performed from 6 a.m. to 6 p.m. So the cesarean section rate could be related with a day of the week and a time of the day. From this results. there is a possibility that the physicians' personal comfort may influence the cesarean section rate.

• Korean Journal of Head & Neck Oncology
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• v.24 no.1
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• pp.47-52
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• 2008

Purpose：The incidence of papillary thyroid microcarcinoma(PTMC) has increased due to the widespread use of high resolution ultrasonography and fine-needle aspiration biopsy. However, the clinical and biologic behaviors of PTMC is debatable. The aim of this study was to describe clinicopathologic features of PTMC and to suggest whether tumor size(5mm) might prove the useful parameter for determining the surgical strategy in PTMC. Material and Methods：From Jan. 2000 to Dec. 2005, 1355 of 2678 patients with papillary thyroid carcinoma were identified as having PTMC, based on tumor size${\leq}$10mm(50.6%). Among patients with PTMC, we further separated tumors<5mm(minute group：group M) from those 5 to 10mm(tiny group：group T). We compared the clinicopathological characteristics and the TNM stagings between two groups. Results：There were 114(8.4%) men and 1241(91.6%) women with a median age of 47 years(range；13-79). During a mean follow-up of 47.3(range；22-93), 13 patients(1.0%) developed locoregional recurrences and 3 patients(0.2%) showed distant metastases at initial presentation. Statistical analysis revealed that the presence of extracapsular invasion(p<0.0001), invasion to adjacent structure(p<0.0001), multifocality(p<0.0001), central lymph node metastasis(p<0.0001), and lateral lymph node metastasis(p<0.0001) were all significantly higher in tiny group(tumor${\geq}$5mm). Furthermore, minute group demonstrated a significantly lower tumor stage(AJCC TNM classification) compared with tiny group(p<0.0001). Conclusion：Patients with PTMC have a favorable treatment outcomes, although the distinction needs to be made with reference to the clinicopathologic behaviors. It would be reasonable to consider that tumor size(5mm) would be useful parameter for the treatment strategy of PTMC.