• Childhood Kidney Diseases
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• v.26 no.2
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• pp.107-110
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• 2022

Nephrogenic diabetes insipidus, decreased ability to concentrate urine, with production of large amounts of urine, is caused by the refractory response of renal tubules to the action of antidiuretic hormone. This rare disorder, known as X-linked nephrogenic diabetes insipidus, is caused by a mutation in the AVPR2 gene. Because it is hereditary, most patients are male. This report highlights a case of nephrogenic diabetes insipidus in a 3-year 5-month-old female; upon presentation to the hospital, her symptoms included frequent urinationand consumptionof a significant amount ofwater,which had begun2 years ago. The results of blood tests showed increased levels of serum antidiuretic hormone, and sellar magnetic resonance imaging showed no abnormality. The results of the water restriction test and the desmopressin administration test confirmed the diagnosis of nephrogenic diabetes insipidus showing a partial response to desmopressin. The results of genetic testing indicated the presence of an AVPR2 mutation, a heterozygous missense mutation (p.Val88Met), suggesting inheritance of X-linked nephrogenic diabetes insipidus. This report describes a significant case of symptomaticX-linked nephrogenic diabetes insipidus in a female patient who showed a partial response to desmopressin.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.2
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• pp.298-304
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• 2009

XLH (X-linked hypophosphatemic rickets) is a form of rickets which is resistant to the usual dose of vitamin D and inherited in a X-linked dominant manner. It is also known as vitamin D-resistant rickets or familial hypophosphatemic rickets. Here we report a 6-year-and-6-month-old female patient of XLH who is diagnosed with in SNUB. She was referred from local clinic for impaction of maxillary left permanent incisor and its treatment. She presents bowing deformities of the legs, short stature, enlargement of wrist and ankles and spontaneous dental abscesses of clinically sound teeth delayed eruption, taurodontism, delayed apical closure, enlarged pulp chambers, and absent or poorly defined lamina dura. The purpose of this case is to review the literatures of XLH and report the dental and medical characteristics of this patient.

• Tuberculosis and Respiratory Diseases
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• v.65 no.3
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• pp.207-211
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• 2008

X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).

• Clinical and Experimental Reproductive Medicine
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• v.41 no.4
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• pp.168-173
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• 2014

The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The patient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.66-70
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• 2014

X-linked adrenoleukodystrophy (ALD) is a uncommon metabolic disorder which derived by peroxismal ${\beta}$-oxidation and elevation of serum very long chain fatty acid (VLCFA). VLCFA is mainly accumulated in the myelin of the central nervous system and adrenal cortex, by which the expressed symptoms of this disease are mainly neurologic and endocrinologic (such as adrenal insufficiency). The mutations in the ABCD1 gene causes X-linked ALD, nevertheless its phenotypes and genotypes are poorly coordinated. We report the case of a 12-year-old boy with X-linked ALD who developed vomiting, fatigue and poor oral intake. Severe dehydration and hyponatremia were found in initial physical examination and laboratory test, but his motor/sensory nerve function and mental status were completely normal. We diagnosed ALD with diffuse high-intensity signal in both parietotemporal cerebellar white matter in brain MRI and elevated serum VLCFA. Later, we confirmed a novel c.1635-1G>A (IVS6-1G>A) mutations of the ABCD1 gene. With the discrepancy between its phenotypes and genotypes, various phenotypes could be seen in X-ALD patient. Careful examination and further studies for these patients will be needed.

• Journal of Wetlands Research
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• v.21 no.3
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• pp.244-250
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• 2019

Due to the industrial development and population growth, it has recently been shown that there are many problems caused by the rinked treatment water in local goverments and sewage treatment plants. The rinked treatment water has a characteristic of low flow rate and high concentration unlike general sewage. These characteristics increase sewage treatment difficulty and sewage treatment fee of sewage treatment facilities. Among the many influencing factors that increase sewage treatment unit cost, 'linked treatment load/design inflow load (%)' was derived as the most correlated factor. Through the selection and modeling of sewage treatment plants, the excess scope of design discharge water quality was investigated under the conditions of temperature and the conditions of 'linked treatment load/design inflow load (%)' taking into account the effects of the four seasons. The study found that for TN, 'linked treatment load/design inflow load (%)' was 19.7%, 22.6%, 25.1%and 27.7%, respectively, under conditions of $5^{\circ}C$, $10^{\circ}C$, $20^{\circ}C$ and $25^{\circ}C$. In case of TP, 'rinked treatment load/design inflow load (%)' was 10.7%, 12.2%, 15.6% and 17.5% at $5^{\circ}C$, $10^{\circ}C$, $20^{\circ}C$, and $25^{\circ}C$, respectively, under conditions of $5^{\circ}C$, $10^{\circ}C$, $20^{\circ}C$ and $25^{\circ}C$.

• Korean Journal of Food Science and Technology
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• v.39 no.5
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• pp.534-540
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• 2007

In this study, waxy rice starch was chemically modified using phosphorous oxychloride ($POCl_3$, 0.002-0.008%). Then the physicochemical properties of resulting cross-linked waxy rice starches were investigated in order to reduce the steeping time of Yukwa (a Korean oil-puffed rice snack) processing. The swelling powers of the cross-linked waxy rice starch samples were higher than the native waxy rice starch at temperatures above $60^{\circ}C$, and their increases were proportional to the $POCl_3$, concentration. The solubility of the cross-linked waxy rice starch was lower (1.6-3.4%) than the native waxy rice starch (2.7-6.1%). However, the moisture sorption isotherm of the cross-linked waxy rice starch was not significantly different from the native waxy rice starch. The rapid visco analyze. (RVA) pasting temperatures $(65.4-67^{\circ}C)$ of the cross-linked waxy rice starch were lower than those of the native starch $(67^{\circ}C)$. The RVA peak viscosities (287-337 RVU) of the cross-linked waxy rice starch were higher than that of native starch (179 rapid visco units (RVU)), and increased with increasing $POCl_3$ concentration. For the differential scornning calorimeter thermal characteristics, although Tc shifted toward higher temperatures with cross-linking, the To, Tp, and amylopectiin melting enthalpy of the cross-linked waxy rice starch showed no differences compared to the native waxy rice starch. The X-ray diffraction patterns of both the native and cross-linked waxy rice starches showed typical A-type crystal patterns, suggesting that cross-linking mainly occurs in the amorphous regions of starch granules. Therefore, the cross-linking reaction did not change the crystalline region, but altered the amorphous region of the waxy rice starch molecules, resulting in changes of solubility and RVA pasting properties in the cross-linked waxy rice starch. In summary, since cross-linked waxy rice starch has a high puffing efficiency and no browning reaction, it may be applicable for Yukwa processing without a long steeping process.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.31-34
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• 2012

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.107-109
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• 2018

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not fulfill the criteria of demyelination or axonopathy. We describe a 37-year-old man with progressive bilateral leg weakness since his early teen. He suffered transient right hemiparesis, followed by quadriparesis at 14 years of age. When we examined him at 37 years of age, he presented a distal muscle weakness on lower extremities with a sensory symptom. The nerve conduction study demonstrated a motor conduction velocity between 26 and 49 m/s. The whole exome sequencing revealed a novel variant c.136 G>A in GJB1. This report will raise awareness in this rare disease, which is frequently misdiagnosed early in its course.

• Bulletin of the Korean Chemical Society
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• v.6 no.5
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• pp.300-303
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• 1985

To understand the nature of the linkage between chromophore and apoprotein in the photoreceptor of Stentor coeruleus, a conformational analysis has been carried out on the dipeptide amides linked to the chromophore hypericin using an empirical potential function. The conformational energies for the dipeptide amides of Glu (OHyp)-X-NHMe, where X = Leu, Phe, Asp, and Tyr, have been calculated to investigate the influence of peptide residues in stabilizing conformers. It was found that the increase of acidity of hypericin upon photoexcitation may be facilitated by the formation of intramolecular hydrogen bonds between hydroxyl groups of hypericin and carbonyl groups of peptide backbone, and that the stabilities of dipeptide amides do not significantly depend on peptide residues directly linked to chromophore.