• Title/Summary/Keyword: First-onset

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A Novel Mutation in the DNA Binding Domain of NFKB is Associated with Speckled Leukoplakia

  • Govindarajan, Giri Valanthan Veda;Bhanumurthy, Lokesh;Balasubramanian, Anandh;Ramanathan, Arvind
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.7
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    • pp.3627-3629
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    • 2016
  • Background: Activation and inactivation of nuclear factor of kappa light chain gene enhancer in B cells (NFKB) is tightly regulated to ensure effective onset and cessation of defensive inflammatory signaling. However, mutations within NFKB, or change in activation and inactivation molecules have been reported in a few cancers. Although oral squamous cell carcinoma is one of the most prevalent forms of cancer in India, with a development associated with malignant transformation of precancerous lesions, the genetic status of NFKB and relative rates of change in oral precancerous lesions remain unknown. Hence in the present study we investigated all twenty four exons of NFKB gene in two precancerous lesions, namely oral submucous fibrosis (OSMF) and oral leukoplakia (OL) to understand its occurrence, incidence and assess its possible contribution to malignant transformation. Materials and Methods: Chromosomal DNA isolated from twenty five each of OSMF and OL tissue biopsy samples were subjected to PCR amplification with intronic primers flanking twenty four exons of the NFKB gene. The PCR amplicons were subsequently subjected to direct sequencing to elucidate the mutation status. Results: Sequence analysis identified a novel heterozygous mutation, c.419T>A causing substitution of leucine with glutamine at codon 140 (L140Q) in an OL sample. Conclusions: The identification of a substitution mutation L140Q within the DNA binding domain of NFKB in OL suggests that NFKB mutation may be relatively an early event during transformation. To the best of our knowledge, this study is the first to have identified a missense mutation in NFKB in OL.

REPORT OF BECHET'S DISEASE (베체트병환자의 치험례)

  • Kim, Il-Kyu;Yun, Seung-Hwan;Oh, Sung-Seop;Kim, Hyung-Don;Choi, Jin-Ho;Oh, Nam-Sik;Kim, Eui-Seong
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.26 no.2
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    • pp.219-223
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    • 2000
  • Behcet's disease is a chronic, multisystemic disorder which is more frequently seen in the Mediterranean basin, Middle East, and Far East. The mean age at the first onset is third decades. In large series of patients, men predominate over women. Infectious agents, immune mechanisms, and genetic factors are implicated in the etiopathogenesis of the disease. Eyes, skin, joints, the oral cavity, blood vessels, and central nervous system are usually involved, although less frequently the heart, lung, kidney may be affected. The prognosis of the disease has been improved because of early diagnosis and suitable treatment. Local remedies and systemic administration of colchicine, corticosteoids, immunosuppressives, and other agents have been applied. Pathergy, or skin hypersensitivity to needle puncture has been reported as a diagnostic test for Behcet's disease. We have managed a Behcet's disease patient with pathergy test & corticosteroids therapy. We have obtained good result and report this case with review of literatures.

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Study of Optical Fiber Sensor Systems for the Simultaneous Monitoring of Fracture and Strain in Composite Laminates (복합적층판의 변형파손 동시감지를 위한 광섬유 센서 시스템에 관한 연구)

  • 방형준;강현규;홍창선;김천곤
    • Composites Research
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    • v.16 no.3
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    • pp.58-67
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    • 2003
  • To perform the realtime strain and fracture monitoring of the smart composite structures, two optical fiber sensor systems are proposed. The two types of the coherent sources were used for fracture signal detection - EDFA with FBG and EDFA with Fabry-Perot filter. These sources were coupled to EFPI sensors imbedded in composite specimens. To understand the characteristics of matrix crack signals, at first, we performed tensile tests using surface attached PZT sensors by changing the thickness and width of the specimens. This paper describes the implementation of time-frequency analysis such as short time Fourier transform (STFT) and wavelet transform (WT) for the quantitative evaluation of fracture signals. The experimental result shows the distinctive signal features in frequency domain due to the different specimen shapes. And, from the test of tensile load monitoring using optical fiber sensor systems, measured strain agreed with the value of electric strain gage and the fracture detection system could detect the moment of damage with high sensitivity to recognize the onset of micro-crack fracture signal.

Characterization of Pubertal Development Phases in Female Longtooth Grouper, Epinephelus bruneus via Classification of Bodyweight

  • Ryu, Yong-Woon;Hur, Sang-Woo;Hur, Sung-Pyo;Lee, Chi-Hoon;Lim, Bong-Soo;Lee, Young-Don
    • Development and Reproduction
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    • v.17 no.1
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    • pp.55-62
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    • 2013
  • Puberty is the developmental period which animals obtain the ability of reproducing sexually for the first time in life. In commercially important aquaculture fish species, the onset of puberty is a matter of major interest due to controlling of sexual maturation to improve broodstock management. To investigate pubertal characteristics of female longtooth grouper (Epinephelus bruneus), specimens were classified into three groups by the bodyweight, including 1, 2, and 3 kg group. Thereafter, we focused on ovarian development and level changes of endocrine regulation factors (GnRH, GTHs, steroid hormone). In the non-breeding season (April), the levels of endocrine regulation factors showed increasing trends in accordance with bodyweight gaining; nevertheless, the oocytes were growth phase belongs to almost peri-nucleous stages in all groups. In the breeding season (June), the levels of endocrine regulation factors were fluctuated that decreases in levels of sbGnRH and $FSH{\beta}$ mRNA expressions along with serum $E_2$ concentrations in 3 kg of group. However, $LH{\beta}$ mRNA expression levels sustained increasing trends by the bodyweight. Moreover, the oocytes developed that 2 kg and 3 kg groups obtained plentiful vitellogenic oocytes while 1 kg group was still composed with greater part of pre-vitellogenic oocytes. Especially, the oocytes of 3 kg group reached over 450 ${\mu}m$ of diameters that indicating possibility to enter the final maturations. These results suggest that the progress of pubertal development in female E. bruneus could be classify into three phases via bodyweight, including pre-puberty (1 kg), early-puberty (2 kg) and puberty (3 kg).

Preliminary report of March Fractures in Infantry Soldiers of Korea - About 15 (19cases) march fracture patients - (한국 보병에서 발생한 중족골 행군골절 양상의 예비적 보고)

  • Bae, Young-Jae;Yoon, Sung-Il
    • Journal of Korean Foot and Ankle Society
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    • v.2 no.2
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    • pp.57-63
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    • 1998
  • Stress or march fractures among military personnel, especially recruits, has been appreciated for many years. According to the classical references, the second metatarsal was one of the first sites identified as a focus for march fractures and radiological evidence of fracture appeared as late as several weeks. The purpose of this study was to document the clinical feature of march fractures in Korean infantry soldiers. From 1997 to 1998, at one infantry medical company of OO infantry corps in Korea, 15 (19cases) patients with march fracture were detected among infantry soldiers. There were some different finding in the fracture site and its clinical features from the previous foreign reports. 1. There were pain and local swelling in all cases as clinical manifestation. By physical examination, direct point tenderness on the location of the fractured metatarsal shaft was characteristic. 2. On roentgenographic examination, cortical fissuring or break was seen one week after onset of symptoms and external callus was seen from two weeks or at the least four weeks. Oblique view was more useful than AP view in the diagnosis of march fractures. 3. The third metatarsal was the most frequently involved site(7 cases, 48%). and the second metatarsal was Jess frequent(3 cases, 20%). This difference of frequent site with previous reports might be attributed to the relatively long shaft of the third metatarsal, but should be analyzed in further study. 4. The incidence of the development of march fracture was 1 per 104 infantry soldiers.

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Modeling and Estimation of Cardiac Conduction System using Hidden Markov Model (HMM을 이용한 심장 전도 시스템의 모델화와 추정)

  • Halm, Zee-Hun;Park, Kwang-Suk
    • Proceedings of the KOSOMBE Conference
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    • v.1997 no.11
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    • pp.222-227
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    • 1997
  • To diagnose cardiac arrhythmia owing to reentry mechanism, cardiac conduction system was modeled by modified Hidden Markov modeled by evaluated. First, simulation of transient conduction states and output waves were made with initially assumed parametric values of cardiac muscle repolariztion time, conduction velocity and its automaticity. The output was a series of onset time and the name of the wave. Parameters determined the rate of beating, lengths of wave intervals, rate of abnormal beats, and the like. Several parameter sets were found to simulate normal sinus rhythm, supraventricular /ventricular tachycardia, atrial /vetricular extrasystole, etc. Then, utilizing the estimation theorems of Hidden Markov Model, the best conduction path was estimated given the previous output. With this modified estimation method, close matching between the simulated conduction path and the estimated one was confirmed.

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Transient Inferior Subluxation of the Shoulder (견관절의 일과성 하방 아탈구)

  • Tae Suk-Kee;Jung Young Bok;Park Keun-Hyung;Song Kwang-Sup
    • Clinics in Shoulder and Elbow
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    • v.1 no.2
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    • pp.167-174
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    • 1998
  • Since the first description by Cotton, there have been sporadic reports about the inferior subluxation of the shoulder. Nevertheless there is still a lack of consensus regarding the mechanism of occurrence, evolution and treatment. We have experienced six cases of inferior sublusation(five cases after trauma and one case after surgery) which resolved over time. Analysis of the clinical informations including serial radiographs, data from clinical examination and electromyography(EMG) revealed the following results. All the five post-traumatic inferior subluxations were noted in women with an average age of 59 years after direct trauma resulting in fracture of the proxiaml hrnerus(4) or clavicle(1), of which nerve injury was proven by EMG in three. One case occurred after Bankart repair by stretch injury to the axillary nerve. The presenting symptom was unusually severe pain on passive motion. Absence of anterior or posterior displacement wasl confirmed by radiographs. All the cases seemed to have delayed onset of subluxation except one. The subluxed hu.meral head was concentrically reduced at an average 11 weeks(range 3-23 weeks) from the supposed time of occurrence and the acromiohumeral interval measUred on the standing anteroposterior radiographs decreased to 9.4 mm ftom 23 mm. Improvement of pain paralled the reduction. In conclusion, the most common cause of transient inferior subluxation was nerve injury in ou~ series and the prognosis was excellent, however protraction of recovery or leaving permanent subluxation would be possible if .the injured nerve is unrecoverable.

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Clinical Studies on Abomasal Displacement of Dairy Cows (유우제사위전위증에 관한 임상적 조사연구)

  • Cheong Chang-Kook;Jo Choong-Ho;Sung Jai-ki;Choi Hee-In;Hwang Woo-Suk;Nam Tchi-Chou
    • Journal of Veterinary Clinics
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    • v.1 no.1
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    • pp.11-23
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    • 1984
  • Epizootiolosical factors of 166 cows with abomasal displacement were studied and in 21 out of 166 cows, the functions of liver and kidney were also tested. 1. Incidence of abomasal displacement was perdominant in small sized dairy herd less than 15 cows, using area of paddock below 165㎡. 2. Out of 166 cows with abomasal displacement, 116 cows (70%) were found left sided displacement and 50 cows (30%) were right. 3. Generally, one to two weeks were taken before treatment of veterinarian following onset of sign of the diseases. Therefore many cases were found to be severe in their illness. 4, Incidence rate of abomasal displacement was predominant in summer season (June, July and Au-gust). However, occurence of the disease was continuous throughout the year. About 80 percent of abomasal displacement was distributed from first to third purturition. 5. High milk production and feeding with high concentrates and low roughage showed a tendendy to occurs the disease. 6. Approximately 75% of abomasal displacement was distributed within 1 month pre and post partum. 7. Cows with abomasal displacement consumed little concetrates and 75% of cows with abomasal displacement passed abnormal fecal material. 8. Sixty six out of 166 cows with abomsal displacement were coincident with diseases such as retained placenta, metritis, traumatic reticulo-peritonitis and mastitis. 9. In many cass of abomasal displacement, abomasum was extended with gas. 10. Activities of AST ana LDH showed the trends to reduce after surgical intervention comparing with pre-surgery. Bilirubin concentration markedly decreased after surgical treatment comparing with pre-surgery. 11. The concentration of BUN and creatinine moderatly decreased after surgery compared with pre-surgery.

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Alibi Verification and the PCR Method to Estimate the Source of Epidemic for a Few Notified Cases of S. sonnei (산발적으로 신고되는 세균성이질환자의 감염원 추정을 위한 알리바이 확인 및 PCR(Polymerase Chain Reaction) 검사)

  • Koh, Dai-Ha;Yoon, Chai-Hyun;Lee, Sin-Jae
    • Journal of Preventive Medicine and Public Health
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    • v.38 no.4
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    • pp.420-424
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    • 2005
  • Objectives : A few culture-confirmed cases of S. sonnei have been notified from Korean hospitals. The source of epidemic can't be firmly determined in such cases because of the rarity of this illness in the local communities and the timing of the outbreaks. The objective of this study is to estimate the source of epidemic by investigating the patients' lifestyles. Methods : Alibi verification was used to access the presumed source of the epidemic. PCR (Polymerase Chain Reaction) was used to rapidly detect the genes of Shigella in water specimens. Results : The common lifestyle trait among the Shigella infected patients was connected with Mt. Martyr in J city, Korea. The first patient's son had gone on a pilgrimage to Mt. Martyr with 41 friends and he had only eaten rice cakes on April 5th; the second patients had visited Mt. Martyr with their mother for a picnic on April 12th; the third patient had visited Mt. Martyr with 22 friends for a pilgrimage and the patient had only drunk holy water on April 13th. Therefore, the holy water of Mt. Martyr was reckoned to be the source of the epidemic. PCR detected the genes of Shigella two days before the S. sonnei was confirmed. Conclusion : The patients' lifestyles for 7 days before the onset of symptoms should be determined in terms of time, place and contacted people to find the source of infection when cases with food poisoning are seen in the hospital setting.

Korean Experiences of Citrin Deficiency: Seven cases of citrin deficiency and nine major mutation screening in newborns in Korea (한국인에서의 사이트린 결핍증의 경험)

  • Kim, Ju-Hyun;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.6 no.1
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    • pp.96-107
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    • 2006
  • Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

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