• Title/Summary/Keyword: I-P Characteristic

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A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

  • Park, Jin-Mo;Lee, Yun Jeong;Park, Jin-Sung
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.97-101
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    • 2018
  • Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

Pleural Carcinoembryonic Antigen and Maximum Standardized Uptake Value as Predictive Indicators of Visceral Pleural Invasion in Clinical T1N0M0 Lung Adenocarcinoma

  • Hye Rim Na;Seok Whan Moon;Kyung Soo Kim;Mi Hyoung Moon;Kwanyong Hyun;Seung Keun Yoon
    • Journal of Chest Surgery
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    • v.57 no.1
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    • pp.44-52
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    • 2024
  • Background: Visceral pleural invasion (VPI) is a poor prognostic factor that contributes to the upstaging of early lung cancers. However, the preoperative assessment of VPI presents challenges. This study was conducted to examine intraoperative pleural carcinoembryonic antigen (pCEA) level and maximum standardized uptake value (SUVmax) as predictive markers of VPI in patients with clinical T1N0M0 lung adenocarcinoma. Methods: A retrospective review was conducted of the medical records of 613 patients who underwent intraoperative pCEA sampling and lung resection for non-small cell lung cancer. Of these, 390 individuals with clinical stage I adenocarcinoma and tumors ≤30 mm were included. Based on computed tomography findings, these patients were divided into pleural contact (n=186) and non-pleural contact (n=204) groups. A receiver operating characteristic (ROC) curve was constructed to analyze the association between pCEA and SUVmax in relation to VPI. Additionally, logistic regression analysis was performed to evaluate risk factors for VPI in each group. Results: ROC curve analysis revealed that pCEA level greater than 2.565 ng/mL (area under the curve [AUC]=0.751) and SUVmax above 4.25 (AUC=0.801) were highly predictive of VPI in patients exhibiting pleural contact. Based on multivariable analysis, pCEA (odds ratio [OR], 3.00; 95% confidence interval [CI], 1.14-7.87; p=0.026) and SUVmax (OR, 5.25; 95% CI, 1.90-14.50; p=0.001) were significant risk factors for VPI in the pleural contact group. Conclusion: In patients with clinical stage I lung adenocarcinoma exhibiting pleural contact, pCEA and SUVmax are potential predictive indicators of VPI. These markers may be helpful in planning for lung cancer surgery.

Evaluation of Albumin Creatinine Ratio as an Early Urinary Biomarker for Chronic Kidney Disease in Dogs

  • Hyun-Min Kang;Heyong-Seok Kim;Min-Hee Kang;Jong-Won Kim;Dong-Jae Kang;Woong-Bin Ro;Doo-Won Song;Ga-Won Lee;Hee-Myung Park;Hwi-Yool Kim
    • Journal of Veterinary Clinics
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    • v.40 no.6
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    • pp.399-407
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    • 2023
  • Chronic kidney disease (CKD) occurs in more than 15% of the dogs over 10 years of age and causes irreversible renal function deterioration. Therefore, it is important to diagnose CKD early and treat the disease properly. The purpose of this study aimed to to evaluate the clinical utility of urine albumin/creatinine ratio (ACR) using POC (point-of-care) device as an early detection urinary biomarker in CKD dogs and to confirm the correlation between ACR and other known CKD biomarkers. Urine and serum samples were obtained from 50 healthy dogs and 50 dogs with CKD. Serum blood urea nitrogen (BUN), creatinine, and symmetric dimethylarginine (SDMA) concentrations, and urine protein creatinine ratio (UPC) were measured. Urine specific gravity (USG) was evaluated using refractometer, and ACR was measured using an i-SENS A1Care analyzer. The ACR values of dogs with CKD were significantly different from those of healthy dogs (p < 0.001), as with other renal biomarkers. ACR showed significant differences between healthy dogs and dogs with CKD at every IRIS stage (p < 0.005), whereas no significant differences were observed between dogs with CKD IRIS stage I and healthy dogs with UPC. There are significant positive correlation between ACR and BUN (r = 0.611, p < 0.001), creatinine (r = 0.788, p < 0.001), SDMA (r = 0.747, p < 0.001), and UPC (r = 0.784, p < 0.001), and significant negative correlation between ACR and USG (r = -0.700, p < 0.001). In receiver operator characteristic curve analysis, the area under the curve (AUC) was 0.982 (95% CI 0.963-1.000, p < 0.001), with an optimal cut-off value of 64.20 mg/g (94% sensitivity and 94% specificity). Thus, ACR is a useful urinary biomarker for the early diagnosis of proteinuria in CKD and combined use of ACR and other renal biomarkers may be helpful for early diagnosis and prevention of CKD in dogs.

Differential expression of a poplar SK2-type dehydrin gene in response to various stresses

  • Bae, Eun-Kyung;Lee, Hyo-Shin;Lee, Jae-Soon;Noh, Eun-Woon
    • BMB Reports
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    • v.42 no.7
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    • pp.439-443
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    • 2009
  • Dehydrins are group II, late embryogenesis abundant proteins that act putatively as chaperones in stressed plants. To elucidate the function of dehydrins in poplar, we isolated the $SK_2$-type dehydrin gene Podhn from Populus alba $\times$ P. tremula var. glandulosa suspension cells and analyzed its expression following treatments of abiotic stress, wounding and plant growth regulator. Sequence homology and phylogenetic analyses indicate Podhn encodes an acidic dehydrin (pI 5.14, 277 amino acids, predicted size 25.6 kDa) containing two lysine-rich "K-segments" and a 7-serine residue "S-segment", both characteristic of $SK_2$-type dehydrins. Southern blots show Podhn genes form a small gene family in poplar. Podhn was expressed in all tissues examined under unstressed conditions, but most strongly in cell suspensions (especially in the stationary phase). Drought, salt, cold and exogenous abscisic acid (ABA) treatments enhanced Podhn expression, while wounding and jasmonic acid caused its reduction. Therefore, Podhn might be involved in ABA or stress response.

Cloning, Expression, and Characterization of DNA Polymerase from Hyperthermophilic Bacterium Aquifex pyrophilus

  • Choi, Jeong-Jin;Kwon, Suk-Tae
    • Journal of Microbiology and Biotechnology
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    • v.14 no.5
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    • pp.1022-1030
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    • 2004
  • The gene encoding Aquifex pyrophilus (Apy) DNA polymerase was cloned and sequenced. The Apy DNA polymerase gene consists of 1,725 bp coding for a protein with 574 amino acid residues. The deduced amino acid sequence of Apy DNA. polymerase showed a high sequence homology to Escherichia coli DNA polymerase I-like DNA polymerases. It was deduced by amino acid sequence alignment that Apy DNA polymerase, like the Klenow fragment, has only the two domains, the $3'{\rightarrow}5'$ exonuclease domain and the $5'{\rightarrow}3'$ polymerase domain, containing the characteristic motifs. The Apy DNA polymerase gene was expressed under the control of T7lac promoter on the expression vector pET-22b(+) in E. coli. The expressed enzyme was purified by heat treatment, and Cibacron blue 3GA and $UNO^{TM}$ Q column chromatographies. The optimum pH of the purified enzyme was 7.5, and the optimal concentrations of KCl and $Mg^{2+}$ were 20 mM and 3 mM, respectively. Apy DNA polymerase contained a double strand-dependent $3'{\rightarrow}5'$ proofreading exonuclease activity, but lacked any detectable $5'{\rightarrow}3'$ exonuclease activity, which is consistent with its amino acid sequence. The somewhat lower thermostability of Apy DNA polymerase than the growth temperature of A. pyrophilus was analyzed by the comparison of amino acid composition and pressure effect.

Clinical Efficacy of External Preparation Containing Herbal Extracts m Atopic Dermatitis Patients (아토피 피부염 환자에서 한방 추출물이 포함된 외용제품에 대한 임상 효과)

  • Kim, Jung-Tae;Jung, Hyeon-A;Roh, Seok-Seon;Kim, Chagn-Hun
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.20 no.2 s.33
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    • pp.187-198
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    • 2007
  • Background : Atopic dermatitis is a chronic and recurrent allergy eczema, called as 'Tae-yul'. It is a characteristic dermatitis, diagnosed from baby to adult, that carries severe itching. Objectivd : The aim of this trial is to examine the effect and safety of Medibebe in patients with atopic dermatitis. Methods : We made a comparison between before and after the use this product. Volunteers who satisfied the requirements were enrolled in the study. Degrees of severity of atopic dermatitis were measured by SCORAD index. Results : After 4 weeks' use of Medibebe, SCORAD index showed a decrease of $20.0{\pm}10.2$(95% C.I: 17.1-22.9) compared with when it was not applied, which is a statistically meaningful change(p-value<0.0001). Subjective pruritus and Sleeping loss reported after both 2 and 4 weeks' use of Medibebe decreased in a statistically meaningful way(p-value<0.0001) compared with before the application. but, 2 cases out of all 50 subjects for the clinical trial were excluded on the way. Conclusion : As a result of applying the 4 items of Medibebe(cream, lotion, soap, and body cleanser) to patients with atopic dermatitis and watching the progress, it is concluded and considered that these cleansing and moisturizing products can be used by atopic patients safely and effectively with almost no side-effect.

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The Influence of the Cationic Surfactant on the Coloration of Chromogenic Reagents (I). The Dissociation Constants of Sulfophthalein Indicators in the Presence of Zephiramine (呈色詩藥의 發色에 미치는 陽이온 表面活性劑의 영향 (第1報). Zephiramine 의 存在下에서 여러가지 술포프탈레인 指示藥의 解離常數)

  • Su-Chan Moon
    • Journal of the Korean Chemical Society
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    • v.20 no.4
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    • pp.270-276
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    • 1976
  • The absorption spectra and the dissociation constants of various sulfophthaleins have been measured in the presence of a cationic surfactant. In the presence of 2.0 ${\times}$ 10-3 M zephiramine and an ionic strength of 0.05 at 25${\pm}1^{\circ}C$ the absorption maxima of the basic forms are shifted to red by 6${\sim}$21 nm and their molar absorptivities are increased, while the absorption maxima of the yellow forms are shifted to blue by 4${\sim}$20 nm and their molar absorptivities are decreased. The decreases in pKa values are of the order of ranging -1.38${\sim}$0.37. The characteristic of the observed changes has been explained by the assumption that the dye molecule adsorbed on micellar surface forms a stable coplanar structure easily and then the conjugation in the dye molecule is elevated.

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A Study on the Characteristic of n-ZnO:In/p-Si (111) Heterostructure by Pulsed Laser Deposition (PLD 법으로 증착된 n-ZnO:In/p-Si (111) 이종접합구조의 특성연구)

  • Jang, Bo-Ra;Lee, Ju-Young;Lee, Jong-Hoon;Kim, Jun-Je;Kim, Hong-Seung;Lee, Dong-Wook;Lee, Won-Jae;Cho, Hyeong-Kyun;Lee, Ho-Seong
    • Journal of the Korean Institute of Electrical and Electronic Material Engineers
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    • v.22 no.5
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    • pp.419-424
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    • 2009
  • ZnO films doped with different contents of indium ($0.1{\sim}10$ at.%) were deposited on Si (111) substrate by Pulsed Laser Deposition (PLD). The structural, electrical and optical properties of the films were investigated using XRD, AFM, Hall and PL measurement. Results showed that un-doped ZnO film had (002) plane as the c-axis orientated growth, whereas indium doped ZnO films exhibited the peak of (002) and the weak (101) plane. In addition, in the indium doped ZnO films, the electron concentration is ten times higher than that of un-doped ZnO film, while the resistivity is ten times lower than that of un-doped ZnO film. The indium doped ZnO films have UV emission about 380 nm and show a red shift with increasing contents of indium. The I-V curve of the fabricated diode show the typical diode characteristics and have the turn on voltage of about 2 V.

Fabrication of Perchlorate Ion Selective PVC Membrane Electrode (과염소산 이온선택성 PVC막전극 제작)

  • 우인성;안형환;강안수
    • Journal of the Korean Institute of Electrical and Electronic Material Engineers
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    • v.11 no.4
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    • pp.298-305
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    • 1998
  • The PVC membrane electrode for measuring perchlorate ion was developed by incorporating various quaternary ammonium sallts. The effect of chemical structure, the content of active material, the kind of plasticizers, and the membrane thickness on the electrode characteristic such as the linear response range and Nernstian slope of the electrode were studied. It was obtained that the effect of the chemical structure of an active material on the electrode characteristics was improved with increasing the alkyl chain length of the quarternary ammonium salts in the ascending order of Aliquat 336P, TOAP, TDAP, and TDDAP. The optimum membrane composition was 9.09wt% of TDDAP, 30.3wt% of PVC, and 60.6wt% of plasticizer(DBP). And the optimum membrane thickness was 0.45mm at this composition. Under the above condition, the linear response range was $10^{-1}~1.2\times10^{-6}$M, and the detection limit was $5.1\times10^{-7}$M with the Nernstian slope of 57mV/decade of activity of perchlorate ion. The electrode potential was stable within the pH range from 4 to 11. The selectivity coefficient was as shown below: $SCN^->I^-NO_3^->Br^->ClO_3^->F^->Cl^->SO_4^{2-}$

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Iterative-R: A reliability-based calibration framework of response modification factor for steel frames

  • Soleimani-Babakamali, Mohammad Hesam;Nasrollahzadeh, Kourosh;Moghadam, Amin
    • Steel and Composite Structures
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    • v.42 no.1
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    • pp.59-74
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    • 2022
  • This study introduces a general reliability-based, performance-based design framework to design frames regarding their uncertainties and user-defined design goals. The Iterative-R method extracted from the main framework can designate a proper R (i.e., response modification factor) satisfying the design goal regarding target reliability index and pre-defined probability of collapse. The proposed methodology is based on FEMA P-695 and can be used for all systems that FEMA P-695 applies. To exemplify the method, multiple three-dimensional, four-story steel special moment-resisting frames are considered. Closed-form relationships are fitted between frames' responses and the modeling parameters. Those fits are used to construct limit state functions to apply reliability analysis methods for design safety assessment and the selection of proper R. The frameworks' unique feature is to consider arbitrarily defined probability density functions of frames' modeling parameters with an insignificant analysis burden. This characteristic enables the alteration in those parameters' distributions to meet the design goal. Furthermore, with sensitivity analysis, the most impactful parameters are identifiable for possible improvements to meet the design goal. In the studied examples, it is revealed that a proper R for frames with different levels of uncertainties could be significantly different from suggested values in design codes, alarming the importance of considering the stochastic behavior of elements' nonlinear behavior.