• Title/Summary/Keyword: Experimental presentation

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A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome

  • Cho, Hee-Won;Lee, Sang Taek;Cho, Heeyeon;Cheong, Hae Il
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.103-106
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    • 2016
  • Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.

Autoimmune encephalitis and epilepsy: evolving definition and clinical spectrum

  • Seo, Joo Hee;Lee, Yun-Jin;Lee, Ki Hyeong;Gireesh, Elakkat;Skinner, Holly;Westerveld, Michael
    • Clinical and Experimental Pediatrics
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    • v.63 no.8
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    • pp.291-300
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    • 2020
  • Advances in autoimmune encephalitis studies in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to the disorder. The disorder or syndrome has been linked to a wide variety of pathologic processes associated with the neuron-specific autoantibodies targeting intracellular and plasma membrane antigens. However, current criteria for autoimmune encephalitis are quite dependent on antibody testing and responses to immunotherapy, which might delay the diagnosis. This form of encephalitis can involve the multifaceted presentation of seizures and unexpected behavioral changes. The spectrum of neuropsychiatric symptoms in children is less definitive than that in adults, and the incorporation of clinical, immunological, electrophysiological, and neuroradiological results is critical to the diagnostic approach. In this review, we document the clinical and immunologic characteristics of autoimmune encephalitis known to date, with the goal of helping clinicians in differential diagnosis and to provide prompt and effective treatment.

Hypopituitarism and Legg-Calve-Perthes disease related to difficult delivery

  • Bas, Veysel Nijat;Uytun, Salih;Vurdem, Umit Erkan;Torun, Yasemin Altuner
    • Clinical and Experimental Pediatrics
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    • v.58 no.7
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    • pp.270-273
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    • 2015
  • Legg-Calve-Perthes (LCP) disease is characterized by idiopathic avascular osteonecrosis of the epiphysis of the femur head. The main factor that plays a role in the etiology of the disease is decreased blood flow to the epiphysis. Many predisposing factors have been suggested in the etiology of LCP disease, and most have varying degrees of effects. Here we present the case of a boy aged 4 years and 10 months with complaints of short stature and a diagnosis of multiple hypophyseal hormone deficiency, in whom LCP disease and difficult birth-related pituitary stalk interruption syndrome were identified by anamnesis. The present case revealed that LCP disease and hypophyseal hormone deficiency could be secondary to difficult birth and that LCP disease could be secondary to insulin-like growth factor 1 deficiency. Additionally, to the best of our knowledge there is no published case on the relation between LCP disease and insulin-like growth factor 1 deficiency. Therefore, we believe that this case is worthy of presentation.

Evaluation of Coding Performance and Design of Spatial Multiplexer or 3D Endoscopic Image Processing (3D 내시경 영상처리를 위한 다중화기 설계와 부호화 성능평가)

  • Song, C.G.;Lee, S.M.;Lee, Y.M.;Kim, W.K.;Hwang, J.D.;Kim, J.H.;Lee, M.H.
    • Proceedings of the KOSOMBE Conference
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    • v.1997 no.11
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    • pp.137-141
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    • 1997
  • In this study, in order to improve visualization and enhance the ability of the surgeon to perform delicate endoscopic surgery, three dimensional endoscopic system is designed. These 3D systems have our features of stereoendoscopic image processing: real time image capture and retrieve; presentation of left and right image on a single monitor; separable processing of the left and right eye images; coding of the 3D endoscopic video. For 3D endoscopic video coding, three approaches are presented based on interlaced picture structure, side-field format structure, and simulcast technique. Experimental results and performances comparisons are presented and analyzed or these approaches. Digital video coding techniques are presented or 3D endoscopic video sequences by means of an MPEG-2 video coding.

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An Electro-palatographic Study of Palatalization in the Japanese Alveolar Nasal

  • Masaki Tsuzuki
    • MALSORI
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    • no.31_32
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    • pp.223-238
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    • 1996
  • It is widely hewn that the Japanese alveolar nasal [n] is affected by adjacent vowels in most positions, that is, the variants of the alveolar [n] occur conditionally. The Japanese [n] is palatalized under the influence of vowel [i] or palatal [j]. In the articulation of 'に', for instance, the tip and sides of the tongue make wide contact with the palate. It is interesting to know how palatalization occurs and varies during the production in different contexts. In my presentation the actual realization of the palatalized alveolar nasal in different contexts is examined and clarified by considering the Electro-palatographic data and examining the articulatory feeling and auditory impression. As a result, palatalized [${\eta}$] occurs either word-initially- or inter-vocalically. [${\eta}$] in [${\eta}$i] and 'いに'[$i{\eta}$] has great palatality. When conditioned by [j], the [${\eta}$] in 'にゃ'[${\eta}$ja], 'にょ'[${\eta}jo$] and 'にゅ'[${\eta}jw$] has full palatality. In each sound the average number of contacted electrodes of the Electro-palatograph at maximum tongue-palate contact is 63 or 100% of the total. To summarize the experimental data, articulatory feeling and auditory impression, it can be concluded that 'the [n] followed by or hemmed in [i], [j] is a palatalized nasal [${\eta}$].

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An Experimental Study on the Change of Bone Mineral Metabolism After Irradiation (방사선 조사후 골무기질 함량의 변화에 관한 실험적 연구)

  • Hong, Sung-Woon;Lim, Sang-Moo;Jang, Ja-June;Lee, Jhin-Oh;Kang, Tae-Woong
    • The Korean Journal of Nuclear Medicine
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    • v.24 no.2
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    • pp.307-316
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    • 1990
  • Irradiation is widely used for the treatment of malignant diseases, and possibly cause the osteoporosis. The densitometry and bone scintigraphy are valuable when used to monitor the patients longitudinally to access the progression of osteoporosis and risk of osteoradionecrosis. To evaluate the osteoporosis after irradiation of Cobalt-60 gamma ray on the lumbar spines of New Zealand white rabbits, bone densitometry by dual photon absorptiometry and bone scintigraphy were performed weekly. The decrease of bone density began at the first week after irradiation, and were in the nadir at 4-6th week. The osteoblastic activity measured by bone scintigraphy decreased in the first week, and was in the nadir at 4-6th week. The severity of these changes were related to the radiation dose. In conclusion, the osteoporosis before the presentation of the osteoradionecrosis can be diagnosed early with the dual photon absorptionmetry and bone scintigraphy.

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Suppression of Interfacial Segregation and Control of Microstructure for Improvement of Mechanical Properties of W-Ni-Fe Heavy Alloy (계면편석 억제와 미세구조 조절에 의한 중합금의 기계적성질 향상)

  • 강석중
    • Proceedings of the Korean Powder Metallurgy Institute Conference
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    • 1993.11a
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    • pp.3-3
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    • 1993
  • In mechanical testing of W-Ni-Pe heavy alloys, the cracks nucleate at W/W interface and propagate through W/ Imatrix interface or through matrix phase together with the cleavage of W grains. The mechanical properties can therefore be improved by control of the interfacial strength and area. In this presentation, some experimental result and techniques on this subject will be reviewed and discussed. The hydrogen embrittlement caused by the hydrogen segregation at interfaces during sintering in an hydrogen atmosphere can be removed by an heat-treattnent in vacuum or in an inert atmosphere. The heat-treatment condition can be estimated by using a diffusion equation for a cylindrical shape. The mechanical properties, in particular the impact property, are degraded by the segregation of non-metallic impurities, such as Sand P. The degradation can be prevented by adding a fourth element, such as La or Ca, active with the non-metallic impurities. The cyclic heat-treatment at usual heat-treattnent tempemture causes the penetration of matrix between W/W grain boundaries and results in remarkable increase in impact energy. This is due to an increase in the area of ductile failure during the impact test. The instability of W/matrix interface casued by addition of Mo or Re can be controlled by using W powders of different size. The increase in the interfacial area in found to be related to the presence of non-equilibrium pure W gmins among W(Mo or Re) solid solution gmins.

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Appropriate Ease of Men's Snow-board Lower Wear (남성 스노보드 하의의 여유량 설정에 관한 연구)

  • Ryu Sin-A;Park Kil-Soon
    • Journal of the Korean Society of Clothing and Textiles
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    • v.30 no.4 s.152
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    • pp.582-594
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    • 2006
  • The purpose of this study were to develop snow-board lower wear with improved functionality. The study consisted of figure out appropriate ease amount of snow-board lower wear and make products by applying it to pattern design. The results of this study were as follows: On the basis of the analysis of snow-board lower wear on market, 2 pieces of experimental snowboard lower wear were designed, produced, and evaluated the patterns of with different ease, and snowboard lower B for experiment was proved to be better. Snowboard lower wear was produced and evaluated for experiment 2 by giving additional ease to specific parts. Therefore experiment 2 was presented pattern, ease, and size of snowboard lower wear with improved functionality. Sizes and ease of snow-board lower wear for presentation. waist circumference - 96.0cm(l6.4cm, 17.1%); hip circumference - 127.0cm(31.3cm, 24.4%); pants length - 112.0cm(9.6cm, 8.6%); crotch length - 90.0cm(26.8cm, 36.4%); thigh circumference - 78.0cm(23.4cm, 30.0%); knee circumference - 62.0cm(24.7cm, 39.8%); turnup circumference - 62.0cm(36.0cm, 58.1%). Above mentioned sizes and ease of lower wear are medium size(M) for male.

Efficient Compression Technique of Multi-view Image with Color and Depth Information by Layered Depth Image Representation (계층적 깊이 영상 표현에 의한 컬러와 깊이 정보를 포함하는 다시점 영상에 대한 효율적인 압축기술)

  • Lim, Joong-Hee;Shin, Jong-Hong;Jee, Inn-Ho
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.34 no.2C
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    • pp.186-193
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    • 2009
  • Multi-view video is necessary to develop a new compression encoding technique for storage and transmission, because of a huge amount of data. Layered depth image is an efficient representation method of multi-view video data. This method makes a data structure that is synthesis of multi-view color and depth image. This paper proposed enhanced compression method by presentation of efficient layered depth image using real distance comparison, solution of overlap problem, and YCrCb color transformation. In experimental results, confirmed high compression performance and good reconstructed image.

A Case of Glutaric Aciduria Type 1 (Glutaric Aciduria Type 1 1례)

  • Song, Joon Young;Kim, Cheol Min;Shin, Young Lim;Yoo, Han Wook
    • Clinical and Experimental Pediatrics
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    • v.45 no.10
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    • pp.1278-1282
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    • 2002
  • Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real clues to early diagnosis. Acute neuroregression of dystonia following an initial phase of normal or almost normal development is a common mode of presentation, at times preceded by seizures. We experienced a case of glutaric aciduria(type 1) in a 13-month old girl. She was admitted due to development delay and choreoasthetoid movememt that developed after generalized tonic-clonic type seizures. She was diagnosed as having glutaric aciduria(type 1) based on brain MRI and urine organic acid analysis finding.