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Chronic Hereditary Tyrosinemia Type I with Novel Mutation in FAH Gene (FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형)

  • Yang, Sungmin;Choi, Hyo Won;Kang, Yun Koo;Lee, Jin-Sung;Namgoong, Mee Kyung
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.2
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    • pp.55-62
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    • 2020
  • A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

Charge-discharge Characteristics of $LiCoO_2/Li$ Rechargeable Cell ($LiCoO_2/Li$ 2차전지의 충방전 특성)

  • Moon, S.I.;Doh, C.H.;Jeong, E.D.;Kim, B.S.;Park, D.W.;Yun, M.S.;Yeom, D.H.;Jeong, M.Y.;Park, C.J.;Yun, S.K.
    • Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
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    • 1993.05a
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    • pp.79-84
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    • 1993
  • This paper describes the development of lithium rechargeable cell. $LiCoO_2$ is recently recognized as a suitable cathode active material of a high voltage, high energy lithium rechargeable batteries because $Li^+$ ion can be electrochemically deintercalated/intercalated from/to $Li_xCoO_2$. The transition metal oxide of $LiCoO_2$ was investigated for using as a cathode active material of 4V class Li rechargeable cell. $LiCoO_2$ cathode was prepared by using a active material of 85 wt%, graphite powder of 12 wt% as a conductor and poly-vinylidene fluoride of 3 wt% as a binder. The electrochemical and charge/discharge properties of $LiCoO_2$ were investigated by cyclic voltammetry and galvanostatic charge/discharge. The open circuit voltage of prepared $LiCoO_2$ electrode exhibited approximately. potential range between 3.32V and 3.42V. During the galvanostatic charge/discharge, $LiCoO_2/Li$ cell showed stable cycling behavior at scan rate of 1mV/sec and potential range between 3.6V and 4.2V. Also its coulombic efficiency as function of cycling was 81%~102%. In this study the $LiCoO_2/Li$ cell showed the available discharge capacity of 90.1 mAh/g at current density of $1mA/cm^2$ and cell discharge voltage range between 3.6V~4.2V.

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Impact and Prevalence of Renin-angiotensin System Gene Polymorphism of Renal Anomalies in Turner Syndrome (터너 증후군에서 신기형의 발생에 미치는 레닌-안지오텐신계 유전자 다형성의 영향)

  • Park Ji-Kyoung;Chung Young-Hee;Lee Jeong-Nyeo;Chung Woo-Yeong
    • Childhood Kidney Diseases
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    • v.7 no.1
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    • pp.52-59
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    • 2003
  • Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

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A Measurement Method for Cervical Neural Foraminal Stenosis Ratio using 3-dimensional CT (3차원 컴퓨터단층촬영상을 이용한 신경공 협착률 측정방법)

  • Kim, Yon-Min
    • Journal of the Korean Society of Radiology
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    • v.14 no.7
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    • pp.975-980
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    • 2020
  • Cervical neural foraminal stenosis is a very common spinal disease that affects a relatively large number of people of all ages. However, since imaging methods that quantitatively provide neural foraminal stenosis are lacking, this study attempts to present quantitative measurement results by reconstructing 3D computed tomography images. Using a 3D reconstruction software, the surrounding bones were removed, including the spinous process, transverse process, and lamina of the cervical spine so that the neural foramen were well observed. Using Image J, a region of interest including the neural foramen area of the 3D image was set, and the number of pixels of the neural foramen area was measured. The neural foramen area was calculated by multiplying the number of measured pixels by the pixel size. In order to measure the widest area of the neural foramen, it was measured between 40-50 degrees in the opposite direction and 15-20 degrees toward the head. The measured cervical neural foramen area showed consistent measurement values. The largest measured area of the right neural foramen C5-6 was 12.21 ㎟, and after 2 years, the area was measured to be 9.95 ㎟, indicating that 18% stenosis had progressed. Since 3D reconstruction using axial CT scan images, no additional radiation exposure is required, and the area of stenosis can be objectively presented. In addition, it is good to explain to patients with neural stenosis while viewing 3D images, and it is considered a good method to be used in the evaluation of the progression of stenosis and post-operative evaluation.

MOCVD Growth and Characterization of Heteroepitaxial Beta-Ga2O3 (MOCVD 성장법을 이용한 Beta-Ga2O3 박막의 헤테로에피택시 성장 특성)

  • Jeong Soo Chung;An-Na Cha;Gieop Lee;Sea Cho;Young-Boo Moon;Myungshik Gim;Moo Sung Lee;Jun-Seok Ha
    • Journal of the Microelectronics and Packaging Society
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    • v.31 no.2
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    • pp.85-91
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    • 2024
  • In this study, we investigated a method of growing single crystal 𝛽-Ga2O3 thin films on a c-plane sapphire substrate using MOCVD. We confirmed the optimal growth conditions to increase the crystallinity of the 𝛽-Ga2O3 thin film and confirmed the effect of the ratio between O2 and Ga precursors on crystal growth on the crystallinity of the thin film. The growth temperature range was 600~1100℃, and crystallinity was analyzed when the O2/TMGa ratio was 800~6000. As a result, the highest crystallinity thin film was obtained when the molar ratio between precursors was 2400 at 1100℃. The surface of the thin film was observed with a FE-SEM and XRD ω-scan of the thin film, the FWHM was found to be 1.17° and 1.43° at the and (${\bar{2}}01$) and (${\bar{4}}02$) diffraction peaks. The optical band gap energy obtained was 4.78 ~ 4.88 eV, and the films showed a transmittance of over 80% in the near-ultraviolet and visible light regions.

Electrochemical Performance of Activated Carbon Electrode Materials with Various Post Treatments for EDLC (활성탄의 후 처리에 의한 EDLC 전극재의 전기화학 성능 개선)

  • Lee, Eunji;Kwon, Soon Hyung;Choi, Pooreum;Jung, Ji Chul;Kim, Myung-Soo
    • Korean Journal of Materials Research
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    • v.24 no.6
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    • pp.285-292
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    • 2014
  • Commercial activated-carbon used as the electrode material of an electric double-layer capacitor (EDLC) was posttreated with various acids and alkalis to increase its capacitance. The carbon samples prepared were then heat-treated in order to control the amount of acidic functional groups formed by the acid treatments. Coin-type EDLC cells with two symmetric carbon electrodes were assembled using the prepared carbon materials and an organic electrolyte. The electrochemical performance of the EDLC was measured by galvanostatic charge-discharge, cyclic voltammetry, and electrochemical impedance spectroscopy. Among the various activated carbons, the carbon electrodes (CSsb800) prepared by the treatments of coconutshell-based carbon activated with NaOH and $H_3BO_5$, and then heat treated at $800^{\circ}C$ under a flow of nitrogen gas, showed relatively good electrochemical performance. Although the specific-surface-area of the carbon-electrode material ($1,096m^2/g$) was less than that of pristine activated-carbon ($1,122m^2/g$), the meso-pore volume increased after the combined chemical and heat treatments. The specific capacitance of the EDLC increased from 59.6 to 74.8 F/g (26%) after those post treatments. The equivalent series resistance of EDLC using CSsb800 as electrode was much lower than that of EDLC using pristine activated carbon. Therefore, CSsb800 exhibited superior electrochemical performance at high scan rates due to its low internal resistance.

AN ELECTROCHEMICAL STUDY ON SURFACE FINISH OF DENTAL AMALGAM (아말감의 표면연마에 관한 전기화학적 연구)

  • Suk, Chang-In;Um, Chung-Moon
    • Restorative Dentistry and Endodontics
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    • v.16 no.2
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    • pp.18-32
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    • 1991
  • The purpose of this study was to observe characteristic properties of amalgam through the polarization curves and SEM images from 4 type amalgams (Amalcap, Shofu spherical. Dispersalloy and Tytin) with 3 different surface finish procedures (polishing, burnishing and carving) by using the potentiostats (EG & GPARC) and SEM (Jeol JSM-35). After each amalgam alloy and Hg was triturated as the direction of the manufacturer by means of mechanical amalgamator (Samki), the triturated mass was inserted into the cylndrical metal mold which was 12 mm in diameter and 10 mm in height and was pressed with $100kg/cm^2$. 4 specimens of each type amalgam were burnished with egg burnisher and another 4 specimens of each type amalgam were carved with Hollenback carver. Above 8 specimens and remaining untreated 4 specimens were stored at room temperature for about 7 days. Untreated 4 specimens of each type amalgam were polished with abrasive papers (Deer) from #400 to #1200 and finally on the polishing cloth with $0.5{\mu}m$ and $0.06{\mu}m$ $Al_2O_3 $ powder suspended water. Anodic polarization measurements was employed to compare the corrosion behaviours of the amalgams in 0.9% saline solution at $37^{\circ}C$. The open circuit potential was determined after 30 minutes immersion of specimen in electrolyte. The scan rate was 1 mV/sec and the surface area of amalgam exposed to the solution was $0.64cm^2$ for each specimen. All the potentials reported are with respect to a saturated calomel electrode (SCE). SEM images of each specimen were taken after + 800 mV (SCE) polarization. The results were as follows: 1. The corrosion potential of high copper amalgam was more anodic than that of low copper amalgam. 2. The polished amalgam were more resistant to corrosion than any other burnished and carved amalgam. 3. In the case of polishing, current density of high copper amalgam was lower than that of low copper amalgam.

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Clinical Characteristics and Outcomes of the First Episode of Urinary Tract Infection in Neonates and Infants Younger than 2 Months of Age

  • Cheng, Jackie Ying-Wai
    • Childhood Kidney Diseases
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    • v.21 no.2
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    • pp.94-100
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    • 2017
  • Purpose: The American Academy of Pediatrics provides guidelines for managing febrile urinary tract infection (UTI) in infants and children 2-24 months old, but little guidance is offered regarding UTIs in those younger than 8 weeks of age. The definition of UTI is unclear and whether to proceed with micturating cystourethrography (MCUG) or $^{99m}$technetium-dimercaptosuccinic acid (DMSA) scintigraphy scan in this age group is controversial. Methods: We retrospectively analyzed 29 neonates and infants younger than 2 months of age who underwent late DMSA scans 9 months following the first episode of febrile or symptomatic UTI between July 2009 and June 2016. Results: In total, 192 children aged 0-24 months underwent ultrasound and DMSA scans (MCUG in 174/192). Neonates and infants younger than 2 months of age were significantly less likely to develop fever, and had a lower fever peak, shorter duration of fever before admission and after starting antibiotics, longer hospitalization period, lower C-reactive protein, and greater incidence of nonEscherichia coli infection. There was no difference in pyuria response at diagnosis. The prevalence rates of an ultrasound abnormality (28%), vesicoureteral reflux (28%), UTI recurrence (38%), and renal scarring (10%) in infants younger than 8 weeks of age were similar to those in children 2-24 months old. Conclusion: Neonates and infants younger than 2 months of age with UTI warrant special consideration because the fever response used for diagnosis in older children may be absent or blunted. Clinical guideline is needed for the diagnosis and management of UTI in this age group.

Shape Design Method of Mold Brassiere Cup for Small-breasted Women in their Twenties (20대 빈약 유방 여성용 몰드 브래지어 컵의 형태 설계 방법)

  • Lee, Hyun-Young
    • Fashion & Textile Research Journal
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    • v.17 no.6
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    • pp.988-995
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    • 2015
  • Gaps between the upper edges of brassiere mold cups and the breasts are one of the most serious issues in realizing comfort wearing of commercial brassieres for small-breasted women. The surplus ease amounts causing the fit problem were measured from 3D wearing images of the small-breasted women's brassieres. The effect after the removing the surplus ease amounts from the upper edge of mold cup was approved by subjective wearing evaluation. Since the volume distribution of mold cup can also affect the wearing sensation of brassiere, the subjective wearing sensation was compared for two brassieres of different volume distributions, VL, of which volume was concentrated at the lower cup, and VC, which has the thickest part at the nipple. As the results, the suitable sensation for cup volume and the natural wearing silhouette could be accomplished by removing the surplus ease amounts from the upper edge of mold cup to reduce the gaps between brassieres and the breasts, which could be accomplished through an approach reducing the volume near the upper edge of mold brassiere cup and making the volume concentrated at the lower cup. These works provide a useful information on the design of the brassiere mold cups for small-breasted women. Moreover, modeling methods of 3D scan data and 3D printing technique for making more accurate mold cases used in this research can be helpful to develop and evaluate clothing products in future.

Development of Eddy Current Test Probe for Profilometry Inspection of Tube (원형튜브 단면형상검사용 와전류탐촉자 개발)

  • Lee, H.J.;Nam, M.W.;Lee, C.H.
    • Journal of the Korean Society for Nondestructive Testing
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    • v.17 no.4
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    • pp.262-269
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    • 1997
  • An eddy current probe ($8{\times}1$ multiple-element, surface scan) was successfully designed and fabricated at the KEPRI using the impedance equivalent circuit theory. The probe is intended for the detection of circumferential deformations (cross-section view) of the heat exchanger tubing that can occur due to corrosion, erosion, and denting. Optimum design parameters providing the highest sensitivity and signal-to-noise ratio, such as the coil dimensions, electrical characteristics, and test frequencies, were determined based on initial laboratory experiments conducted on the test specimen (SS304 tubing: OD : 9.68mm, wall-thickness : 0.47mm) containing artificial flaws (e.g., dents and corroded surface on tube OD) using the available Zetec-made probe. Using this parameters, a new probe was made and tested on an unknown specimen. The result indicated that the new probe is capable of detecting the circumferential deformation with the error of ${\pm}0.2%$ (0.022mm) of the tube O.D.

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