• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.43-49
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• 2018

Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.78-86
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• 2018

Purpose: We aimed to delineate clinical spectrum and short-term effects after enzyme replacement therapy (ERT) for 5 mucopolysaccharidosis type II (MPS II). Methods: Five patients were diagnosed with MPS II by clinical findings, enzyme activity, and genetic testing. Idursulfase was administered by intravenous infusion at a dose of 0.5 mg/kg every week. Observational chart analysis of patients, who underwent systematic investigations more than 12 months after initiation of ERT was done retrospectively. Results: Three patients were classified as having the attenuated type, and 2 patients were classified as having the severe type. The median age at the diagnosis was 9.6 years (range 3.4-26 years). Four different mutations in 5 Korean patients (4 families) with MPS II were identified, among which two were novel mutations (1 small insertion mutation: p.Thr409Hisfs*22, and 1 missense mutation: p.Gly134Glu). Two severe type sibling patients with the same mutation had different clinical manifestation. Urinary glycosaminoglycan excretion decreased within the twelve months of ERT (P=0.043). Liver and spleen volumes showed reductions that were maintained in all patients (P=0.043 and P=0.043, respectively). Improvements were also noted in left ventricular mass index (P=0.042), shoulder flexion (P=0.043), shoulder abduction (P=0.039), knee flexion (P=0.043), elbow flexion (P=0.042), and respiratory distress index (P=0.041). Conclusion: This study demonstrates that Korean patients with MPS II are clinically heterogeneous and indicates that idursulfase is relatively effective in several clinical parameters including heart size and respiratory distress index without infusion-related reactions in patients with MPS II.

• Sleep Medicine and Psychophysiology
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• v.25 no.2
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• pp.68-73
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• 2018

Objectives: The purpose of this study was to explore insomniac demographic characteristics and the type of consultation provided to hospitalized patients asked to the Department of Psychiatry for insomnia and to compare patient insomnia characteristics by consultation type. Methods: We performed a retrospective chart review of 4,966 patients who were hospitalized from August 1, 2005 to December 31, 2011 that received consultation in the Department of Psychiatry. Among them, 236 patients were referred for insomnia. We compared the differences in demographic characteristics and types of consultation between the insomnia patient group and other patient group. We also compared the difference between demographic characteristics and type of consultation by dividing total subjects into 'with reconsultation' and 'without reconsultation' groups. Results: Our results came from the analysis of 9,689 consecutive consultation requests. There were 4,966 patients that participated in the study over 6 years and 6 months. The overall consultation rate was 3.3% of all admissions and insomnia patients comprised 4.8% of those. The ratio of re-consultation for insomnia was 27.5%. There was no significant difference in mean age between the insomnia 'with reconsultation group' and the insomnia 'without reconsultation group', but the 'with reconsultation' group had significantly more male patients and medical patients than the 'without re-consultation' group. For insomnia patients, consultation types were in the order of Mending request (51.3%), Paralle request (36.6%), Complementary request (9.0%) and this composition differed from that of total admission patients. Conclusion: Hospitalized patients referred for insomnia showed a higher proportion of male patients, lower rates of re-consultation compared with other patients, and most of these were for secondary insomnia. Each doctor should be aware of the possibility of inpatient insomnia, conduct positive assessments and referrals as necessary, and psychiatrists who might be asked for consultation need to prepare an active intervention with initial diagnosis and treatment, as well as recommendations for the timing of reconsultation.

• Economic and Environmental Geology
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• v.52 no.2
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• pp.169-188
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• 2019

This study was carried out unmanned aerial photography and terrestrial laser scanning to establish digital database on original wall of Gyejoksanseong fortress, and measured ground control points for continuity of the monitoring. It also performed precise examination with the naked eye, unmanned aerial photogrammetry, endoscopy, total station and handy measurement to examine the structural stability of the original walls. The ground control points were considered as a point where visual field can be secured, 3 points were selected around each of the south and north walls. For the right side of the south original wall, aerial photogrammetry was conducted using drones and a deviation analysis of 3-dimensional digital models was performed for short-term monitoring. As a result, the two original walls were almost matched in range within 5mm, and no difference indicating displacement of stones was found, except for partial deviation. Regular monitoring of the areas with structural deformation such as bulging, weak and fracture zone by precisely examining with the naked eye and using high-resolution photo data revealed no distinct change. The inner foundation observed through endoscopy found out that filling stones of the original walls were still remained, while most filling soil was lost. As a result of measuring the total station focusing around the points with structural deformation on the original walls, the maximum displacements of the north and south walls were somewhat high with 6.6mm and 3.8mm, respectively, while the final displacements were relatively stable at below 2.9mm and 1.4mm, respectively. Handy measurement also did not reveal clear structural deformation with displacements below 0.82mm at all points. Even though the results of displacement monitoring on the original walls are stable, it is hard to secure structural stability due to the characteristics of ramparts where sudden brittle fracture occurs. Therefore, it is necessary to conduct conservational scientific diagnosis, precise monitoring, and structural analysis based on the 3-dimensional figuration information obtained in this research.

• Korean Journal of Environmental Agriculture
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• v.37 no.4
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• pp.243-250
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• 2018

BACKGROUND: Recently, the use of $^{131}I$ for diagnosis and treatment of thyroid cancer has been increasing, and the radionuclide is continuously released into aquatic ecosystem. This study was carried out to investigate the $^{131}I$ concentrations in mainstreams, tributaries, and sewage wastewater treatment plants (SWTPs) of the Yeongsan River Basin and to identify their origins from the assessment of behaviors in the rivers. METHODS AND RESULTS: The water samples were collected from 19 sites including mainstreams (13), tributaries (4) and SWTPs (2). The $^{131}I$ concentration was measured using a gamma-ray spectrometry with a HPGe detector. The $^{131}I$ in SWTPs was detected mostly in the discharged effluent at the sampling sites. However, from the surface water of the rivers, $^{131}I$ was found only at two sites from each sampling period of the first (MS4 and MS10) and the second half (MS4 and MS7) of the year 2017. The concentrations of $^{131}I$ in the effluent discharged from SWTPs were in the range of 0.0870 to 3.87 Bq/L for SWTP1, and $^{131}I$ in the river revealed that it was not detected in the upper streams of the mainstreams and tributaries, while continuous detection was found in the SWTPs and downstream sites affected by the effluent. However, the concentration of $^{131}I$ decreased downstream, eventually becoming undetectable. Such behavior was closely related to the behavior found in the SWTPs. CONCLUSION: These results indicated that medically-derived $^{131}I$ was discharged to the river via sewage effluent at the SWTPs. It is necessary to evaluate the influence of aquatic ecosystems through continuous monitoring in the future.

• Journal of the Korean Orthopaedic Association
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• v.53 no.6
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• pp.498-504
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• 2018

Purpose: To evaluate the clinical and radiological outcomes, and the complications of unicompartmental knee arthroplasty (UKA) using a fixed bearing prosthesis after 5-year follow-up. Materials and Methods: Twenty-six knees (25 patients) that underwent fixed bearing UKA between May 2003 and August 2011 were included. The subjects were 3 males (3 knees) and 22 females (23 knees), and the average age was 63.5 years. The preoperative diagnosis was osteoarthritis (23 knees) and osteonecrosis (3 knees). The mean follow-up duration was 67 months (from 60 to 149 months). The clinical evaluation included pre- and postoperative American knee society knee and function score, and range of motion. The radiology evaluation included standing antero-posterior, lateral view, and fluoroscopic film to analyze the postoperative alignment and osteolysis. Results: The mean American Knee Society knee score and function score were improved from 42.0 and 57.5 to 87.9 and 85.0, respectively (p<0.001). The mean preoperative and postoperative range of motion was $132.9^{\circ}$ and $132.5^{\circ}$, respectively. The mean femorotibial angle were varus $0.5^{\circ}$ preoperatively and valgus $2.2^{\circ}$ postoperatively. A radiolucent line was observed in 2 knees; one knee had a stable implant, while in the other knee, patellofemoral arthritis was identified during UKA. Diffuse pain of the knee joint with tenderness of the medial joint line was identified at the follow-up, so conversion to total knee arthroplasty was recommended. No other complications, such as osteolysis, infections, postoperative stiffness, and dislocation, were encountered. Conclusion: The midterm results of fixed bearing UKA were clinically and radiologically satisfactory.

• The Korean Journal of Vision Science
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• v.20 no.4
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• pp.543-551
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• 2018

Purpose : The purposes of this study were to evaluate the changes of intraocular pressure according to corneal ablation amount after corneal refractive surgery and the changes of intraocular pressure according to refractive errors before corneal refractive surgery. Methods : The mean age of adults who underwent LASIK corneal refractive surgery were $37.34{\pm}7.42years$, and 108 adults(48 males, 60 females) were participated in this study. Refractive errors, intraocular pressure, and corneal ablation amount were measured using an autorefractor, a noncontact tonometer, and an excimer laser. All test values were considered statistically significant when p<0.05. Results : The mean intraocular pressure before corneal refractive surgery was $15.08{\pm}2.60mmHg$ in males and $14.16{\pm}2.67mmHg$ in females. The decrease of intraocular pressure after corneal refractive surgery were 4.22mmHg in males and 3.61mmHg in females. Spherical equivalent power were $-3.89{\pm}2.17D$ in males and $-4.45{\pm}2.92D$ in females before corneal refractive surgery, and $-0.10{\pm}0.46D$ in males and $-0.04{\pm}0.46D$ in females after corneal refractive surgery. The corneal ablation amount after corneal refractive surgery were statistically significant, with $53.95{\mu}m$ in males and $61.26{\mu}m$ in females. There was significant correlation between corneal ablation amount and decrease of intaocluar pressure(r=0.2299, p<0.001). As the growth of corneal ablation amount in males, the decrease of intraocular pressure was significantly increased. As the growth of refractive error, the amount of decrease in intraocular pressure was also significant. The decrease of intraocualr pressure were $3.04{\pm}2.18mmHg$ in low refractive error, $4.10{\pm}2.16mmHg$ in middle refractive error, and $4.65{\pm}3.29mmHg$ in high refractive error. Conclusion : We found that intraocular pressure decreased after corneal refractive surgery by noncontact tonometer and the change of intraocular pressure which is an important index for glaucoma diagnosis, may affect the judgment of eye disease. We think that a preliminary questionnaire whether corneal refractive surgery is necessary for the measurement of intraocular pressure.

• Pediatric Infection and Vaccine
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• v.25 no.3
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• pp.148-155
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• 2018

Purpose: The purpose of this study was to investigate the clinical significance of Bacille Calmette-$Gu{\acute{e}}rin$ (BCG) site reaction in terms of diagnosis and outcome prediction in young children with Kawasaki disease (KD). Methods: The incidence of BCG site reaction in the respective age ranges was investigated in 1,058 patients who were admitted at Asan Medical Center between January 2006 and February 2017. The 416 patients under 18 months of age were enrolled as subjects for the analysis of the association between BCG site reaction and other laboratory and clinical findings. The analysis was performed separately in complete and incomplete KD groups. Results: The incidence rate of BCG site reaction was peaked at 6-12 months (83%) and decreased with increasing age after 12 months in 1,058 patients (P<0.001). The incidence rate was above 70% in KD aged less than 18 months and more frequent than those of cervical lymphadenopathy. The logistic regression analyses showed that the principal clinical findings including conjunctivitis (P=0.781), red lips/oral mucosa (P=0.963), rash (P=0.510), cervical lymphadenopathy (P=0.363), changes in extremities (P=0.283) and the coronary artery aneurysm (P=0.776) were not associated with the BCG site reaction. Conclusions: The BCG site reaction could be a useful diagnostic tool independent to principal clinical findings in KD developing in children aged <18 months, who underwent BCG vaccination. Outcome of KD patients was not different between groups with or without the BCG site reaction in both complete KD and incomplete KD.

• Pediatric Infection and Vaccine
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• v.25 no.3
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• pp.156-164
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• 2018

Purpose: We aimed to identify the epidemiology and the clinical characteristics of human parainfluenza virus type 4 (HPIV-4) infection compared to HPIVs 1-3 infections in Korean children. Methods: We reviewed medical records of children with HPIV infection who visited Seoul National University Children's Hospital from 2015 to 2017. Detection of respiratory viruses was performed using real time-polymerase chain reaction (rt-PCR), which could differentiate HPIVs 1-4. Diagnosis was classified as a febrile illness, upper respiratory tract infection (URI), croup, bronchiolitis, or pneumonia. The epidemiology, demographic features, and clinical characteristics among HPIV types were compared. The clinical data were analyzed only for the previously healthy children. Results: Of the 472 children diagnosed with HPIV infection, 108 (22.9%) were previously healthy: 24 (22.2%), 19 (17.6%), 39 (36.1%), and 26 (24.1%) in HPIV types 1, 2, 3, and 4, respectively. The median age of children with HPIV-4 infection was 11 (0-195) months: the proportion of children aged < 2 years and 2 to < 5 years were 65.4% and 19.2%, respectively. Clinical diagnoses of HPIV-4 infection were bronchiolitis (38.5%), pneumonia (30.8%), and URI (30.8%). Croup was the most prevalent in HPIV-2 (21.1%) and none in HPIV-4 infection (P=0.026). Hospital admission rates among HPIV types were not significantly different (P>0.05). Conclusions: We observed seasonal peak of HPIV-4 infection in 2015 and 2017. HPIV-4 was a common respiratory pathogen causing lower respiratory tract infection in hospitalized children.

• Korean Journal of Clinical Laboratory Science
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• v.50 no.4
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• pp.449-456
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• 2018

Cervical cancer is the fourth most frequently diagnosed cancer in women worldwide. In lower Human Development Index countries, it has the second highest incidence and mortality among cancer in women. Therefore, better diagnosis and treatment systems are needed. Among them, estrogen receptor alpha ($ER-{\alpha}$) mRNA expression has been analyzed with RT-qPCR since several studies reported that $ER-{\alpha}$ is necessary in the maturation of the uterus and is related to cervical cancer. In this study, $ER-{\alpha}$ quantitative analysis was performed on various lesions and normal tissue samples. Based on the receiver operating characteristic (ROC) curve, its sensitivity and specificity were 85% and 75%, respectively, showing higher or similar results to those of conventional HPV tests. In addition, its expression level was analyzed with clinical information. With regression analysis, the R square value between the $ER-{\alpha}$ mRNA expression level and menopause status was 0.5041, indicating a strong correlation. This study was performed as part of a pilot study and suggests that $ER-{\alpha}$ is related to carcinogenesis. Future studies will examine other hormones and menopausal factors with a larger sample size.