• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.229-234
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• 2018

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.5
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• pp.479-486
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• 2019

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum ${\gamma}-glutamyl$ transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.

• Journal of Astronomy and Space Sciences
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• v.38 no.4
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• pp.229-236
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• 2021

We present for the first time the characteristics of upper atmospheric horizontal winds over the Korean Peninsula. Winds and their variability are derived using four-year measurements by the Korea Astronomy and Space Science Institute (KASI) meteor radar. A general characteristic of zonal and meridional winds is that they exhibit distinct diurnal and seasonal variations. Their changes indicate sometimes similar or sometimes different periodicities. Both winds are characterized by either semi-diurnal tides (12 hour period) and/or diurnal tides (24 hour period) from 80-100 km. In terms of annual change, the annual variation is the strongest component in both winds, but semi-annual and ter-annual variations are only detected in zonal winds.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.147-151
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• 2021

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• Journal of Christian Education in Korea
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• v.73
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• pp.7-19
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• 2023

In education, the educere aspect makes itself felt - moving from an original situation to something higher, something better. Moreover, the formative character of educare can be recognised in the German concept Bildung, which focuses on human beings in their wholeness, on their attitude within society and their worldview. What shape has been given in the Netherlands to these different aspects of education over the centuries? Without creating the impression that a linear development in thinking about - and acting in - education has taken place throughout history, and without the ambition to be comprehensive, we look at what took place between adults and children in previous centuries in the Netherlands. Will our investigation yield historical constants or differences? We let ourselves be surprised.

• Bulletin of the Korean Chemical Society
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• v.33 no.5
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• pp.1627-1637
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• 2012

The coupling reaction between 5-bromo-3-phenylbenzo[c]isoxazole and diphenylamine followed by further condensation with a mono-, di- or ter-acetyl aromatic compound in the presence of diphenyl phosphate at $145^{\circ}C$ gave a novel asymmetric diarylquinolines, oligoquinolines with diphenylamine endgroups, and a first generation quinoline dendrimer in 41-82% isolated yield. The electrochemical and photophysical properties of the oligoquinolines were characterized by cyclic voltammograms (CVs) and spectroscopy. All the quinolines emit bright sky blue light due to charge transfer from quinoline group to diphenly amine with very high quantum efficiency (> 90%). Organic light-emitting diodes (OLEDs) were fabricated using these quinolines as emitting materials. Among different device architectures explored, OLEDs with a structure of ITO/PEDOT (40 nm)/TAPC (15 nm)/D-A quinoline (40 nm)/TPBI (30 nm)/LiF (1 nm)/Al using TAPC as an electron blocking layer and TPBI as a hole blocking layer gave the best performance. A high external quantum efficiency in the range of 1.2-2.3% were achieved in all the quinolines with the best performance in BBQA(5). Our results indicate diarylamino-substituted oligoquinoline and dendrimer are promising materials for OLEDs applications.

• Fire Science and Engineering
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• v.31 no.3
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• pp.41-48
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• 2017

In order to investigate the influence of changes in the thermal properties of solid combustibles on thermal decomposition, a series of solid pyrolysis experiments were performed using a cone calorimeter specified in KS F ISO 5660-1. In the present study, Poly Methyl Methacrylate (PMMA) which does not produce Char during pyrolysis process was used as solid fuel. Results obtained from cone calorimeter experiments were compared to ones obtained from numerical analysis of Fire Dynamics Simulator (FDS) 1D pyrolysis model adopted with thermal properties of solid fuel as input parameters. Comparisons between experimentally calculated and model-predicted mass loss rate were then made to elucidate the effect of changes in the thermal properties on pyrolysis of PMMA.

• Journal of The Korean Astronomical Society
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• v.36 no.1
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• pp.43-48
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• 2003

We introduce and describe performance of the 6-meter telescope of Seoul Radio Astronomy Observatory (SRAO). All the softwares and instruments except the antenna structure and its driving system are developed for ourselves. The SIS mixer type receiver resulted in the receiver noise temperature less than 50 K (DSB) over the whole 3-mm radio window. An autocorrelation spectrometer, developed first in Korea, provides maximum 50 MHz band width over 1024 channels. Antenna surface is measured and adjusted using template method and radio holography which resulted in a superb surface accuracy bet-ter than 30${\mu}m$. Accordingly, the aperture and beam efficiences amount to $70\%$ and $75\%$, respectively, largely independent of frequency in the 85 - 115 GHz range. It is also found that telescope pointing errors are less than 10" in both azimuth and elevation and that antenna gain is almost constant against elevation greater than $20^{\circ}$, without adjusting sub-reflector position. The SRAO 6-meter telescope is now fully operational and all these characteristics verify that observations are carried out with high precision and fidelity.

• Journal of the Korean Ceramic Society
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• v.16 no.3
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• pp.142-154
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• 1979

The effects of microstructures and some additives $(CoO and Al_2O_3$) on the magnetic properties such as initial permeability, $\mu$-T curve, coercive force, and magnetic induction of MnZn ferrites have been studied. The powder was prepared by Hot Petroleum Drying Method. The basic composition of MnZn ferrites was 25.5mole % MnO, 22.0 mole% ZnO, 52.5 mole% $Fe_2O_3$. CoO in a concentration range from 0.05 to 0.5 mole% and $Al_2O_3$ from 2.5 to 7.5 mole% were added. Sintered density increased up to 97.5% of theoretical density. Permeability increased as average grain size increased, and that coercive force decreased as average grian size increased. Magnetic induction increased as sintered density increased. The variation of initial permeability with temperature in a temperature range from 0$^{\circ}$ to $60^{\circ}C$ was lowered (a flatter $\mu-T$ curve) as sintering temperature decreased. The compensation temperature To ofmagnetocrystalline anisotropy constant K1 and initial permeability varied with the species and amount of additives. When 0.05 mole% CoO was added to the basic composition, initial permeability at $15^{\circ}C$ increased from 5200 to 5900. The variation ofinitial permeability with temperature in a temperature range from 0^{\circ}to $60^{\circ}C$ was smaller (a flatter $\mu$-T curve) than that of the basic composition of Mn Zn ferrites. When 2.5 mole% $Al_2O_3$ was added, initial permeability at $15^{\circ}C$ decreased from 5200 to 3000. But the variation of initial permeability with temperature in a temperature range from 0$^{\circ}$to $60^{\circ}C$ was smaller (a flat ter $\mu-T$ curve) than when 0.05 mole% CoO was added. Experimental results showed that the conditions necessary for the occurrence of a very high permeability and a flat $\mu$-T curve were controversial even in a temperature range from $0^{\circ}$to $60^{\circ}C$.