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Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients

  • Jin, Dong-Kyu;Beck, Nam-Seon;Oh, Phil-Soo;Whang, Hye-Zin;Koh, Si-Whan;Kim, Jung-Sim;Oh, Myung-Ryurl
    • Journal of Genetic Medicine
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    • v.1 no.1
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    • pp.27-31
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    • 1997
  • Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia (CAH) and is caused by genetic impairment of the gene (CYP21B). In the human genome, CYP21B is located within the MHC class III region on the short arm of chromosome 6. Most of the genes in this region are highly polymorphic and crowded. Also the CYP21B gene is accompanied by its pseudogene (CYP21A) and tandemly arranged with two genes of fourth component of complement. This highly complex gene cluster in this area may predispose genetic instability of CYP21, i.e. mutations. In this study, tried to investigate the frequency of duplication and deletion of CYP21 and patterns of the genetic alterations of these genes.We also compared the genetic alteration in normal subjects with those of the CAH patients. The results showed that 15% of the normal korean population have duplication or deletion of CYP21. There was one normal subject with heterozygous deletion of CYP21B. Of the 5 CAH patients examined, 2 were found to show abnormal patterns. One was a large-scale gene conversion and the other a gene conversion associated with deletion involving both CYP21B and C4 locus II gene. Through this study, we carne to the conclusion that the duplication or even deletion of CYP21 and C4 might be quite a common event in the Korean population and these rearrangements must be regarded as polymorphisms. It could contribute to a high incidencs of CAH by providing a genetic pool of instable CYP21.

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A Study of Normal Nasalance and Velopharyngeal Port Activity in the Speech of Korean Adults (정상 성인의 비음도와 비인강 활성도에 관한 연구)

  • Leem Dae-Ho;Shin Hyo-Keun;Baek Jin-A.;Kim Hyun-Gi;Kwon Min-Su
    • Korean Journal of Cleft Lip And Palate
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    • v.7 no.2
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    • pp.123-132
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    • 2004
  • The purpose of this study was to obtain normative nasalance scores for adult subjects speaking the Korean language. Additional objectives of the study were to determine if speaker sex played a role in differences in nasalance score and there was significantly correlation of nasalance score with nasalance slope score. The subjects include 75 healthy young Korean adults with normal oral and velopharyngeal resource and function. They had no history of speech problem, were judged as having normal speech and resonance at the time of testing, and had no upper respiratory tract infections or allergies at the time of testing. The Nasometer II 6400 was used to obtain nasalance scores and nasalance slope scores for /a/, /i/, /e/, /o/, /u/, /ja/, /je/, /wi/, /p'ap'i/ and /sasi/. The data of nasalance and nasalance slope were analyzed statistically. The mean nasalance score of the female was significantly higher than that of male at /a/, /i/, /wi/, /p'ap'i/ and /sasi/(p <0.10). The mean nasalance score of /i/ was highest and that of /o/ was the lowest. In this study, we could not and the relationship of the nasalance score and the closing slope score. However, there was negative correlation between the mean nasalance score and the opening slope score at ie/ and /;ai, positive to /sasi/. These normative nasalance scores for normal young adults speaking the Korean language provide important reference information for Korean cleft palate teams. In the future study of velopharygneal activity with the Nasometer, the opening slope score will be able to be the important parameter.

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Studios on the Diagnosis of Subclinical Mastitis in Dairy Cows by the Measurement of the Electrical Conductivity 2. Factors Influencing Electrical Conductivity Value (전기전도도측정에 의한 유우준임상형 유방염의 진단에 관한 연구 2. 전기전도도치의 변동요인)

  • Kang Byong-Kyu;Shin Chong-Bong
    • Journal of Veterinary Clinics
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    • v.2 no.1
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    • pp.115-120
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    • 1985
  • To probe the subclinical mastitis in a herd of cows in Chonnam district, the electrical conductivity(EC) of 825 foremilk samples were measured for 2 years. Normal (n=487) and mastitic(n=110) foremilk samples were classified by the California mastitis test (CMT) and direct somatic cell count(DSCC) and investigated the relations between the changes of the EC value and the calving history, age, days of postpartum, estrus and causative organism isolated. Obtained results are summarized as follows. 1. In the normal foremilk samples, positive correlation, though not significant, was found between the EC value and calving history (r=0.573) and age (r=0.247). 2. In the normal foremilk samples, the EC values were lowered at 30~120 days of postpartum through the whole lactation period and revealed a tendencies to higher values following the day of postpartum increased untill to the drying off (r=0.823), and the days of postpartum was recognized as one of a influencing factor on the EC value(p<0.05). 3. In the mastitic foremilk samples, significant correlation between EC value and resazurin reduction test (RRT) were observed (r=0.904, p<0.05). 4. In the mastitic foremilk samples, EC values were obtained in the E. coli infection as 63.9mM-NaCl, in the Streptococcus spp. infection as 60.5mM-NaCl and in the Staphylococcus spp. infection as 57.0mM-NaCl. 5. At day 0 of estrus, the mean EC values of normal and mastitic foremilk samples were 41.2mM-NaCl and 68.3mM-NaCl respectively and the EC value of day 0 of estrus was higher than that of days before and after estrus.

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Plasma Gastrin Concentraion after Ingestion of Sesame Gruel in Normal Human Subjects (깨죽이 정상 성인의 혈장 Gastrin 농도에 미치는 영향)

  • Kim, Myung-Suk;Lee, Yoon-Lyeur;Kwon, Kyoung-Ok;Jo, Yang-Hyeok;Park, Hyoung-Jin
    • The Korean Journal of Physiology
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    • v.16 no.2
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    • pp.209-213
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    • 1982
  • This study was conducted to investigate the effect of ingestion of sesame (Sesamum indicum) gruel as a nourishing meal upon the plasma gastrin concentration in normal Korean. Sixteen normal persons with no history of gastrointestinal diseases, including male and female were studied. After an overnight(about 15 hrs) fast, eight persons(mean age: 26.6, range: $20{\sim}40$ years) of them ingested a 350 ml sesame gruel corresponding to 12 g protein, 13 g fat and 99 g carbohydrate, and the remaining 8 subjects(mean age: 21.3, range: $20{\sim}24$ years) ingested a 350 ml glutinous rice gruel(control meal) corresponding to 8 g protein, 1 g fat and 115 g carbohydrate. The venous blood samples were drawn before and after the ingestion of the test meal for the measurement of gastrin by means of radioimmunoassay. 1) Plasma gastrin concentration in response to the ingestion of sesame gruel or glutinous rice gruel increased significantly compared with the concentration in fasting state. 2) Mean increment or percent increment in postprandial plasma gastrin concentration after the ingestion of sesame gruel was not significantly different from that after the control meal, i.e. the glutinous rice gruel. It is inferred from the above results that the ingestion of sesame contained in sesame gruel may have no significant influence on gastrin release in normal human subjects.

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The Relationship between Foot Arch Structure and March Fractures - Comparative study between 15(30feet) normal person and the 15(30feet) patients with march fracture - (행군골절 발생과 발아치 구조의 연관성에 대한 연구보고)

  • 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.71-75
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    • 1998
  • The fact that, under similar training activities performed in the same environment, march fractures develop in only a certain percentage of the trainees indicates that intrinsic factors are affecting the prevalence of these fractures. Among these intrinsic factors, the relation between foot arch type and the occurance of march fractures was investigated in this study. From 1997 to 1998, at one infantry medical company of infantry corps in Korea, 15 march fracture patients were detected among infantry soldiers. Quantitative measures of the foot arch (longitudinal) structure of 15(30feet) march fracture patients were established and compared with those of 15(30feet) normal person. The results were as follows. 1. From the lateral X-ray film, three parameters (i.e. calcaneal angle, forefoot angle, height to length ratio)were defined to describe the structure of the longitudinal arch of the foot. 2. The mean value of the calcaneal angle of march fracture group and normal control group showed 16.4 degree, 20.5 degree respectively. The difference between two groups was statistically significant (P>0.006), but those of forefoot angle and height to length ratio were not. 3. In the calcaneal angle twenty-six feet(87%) of march fracture group were lower than 17 degrees but twenty-five feet(83%) of normal control group were more than 17 degrees. That is, march fracture were more prevalent in feet with low calcaneal angle. 4. In the low arch foot, the orthotic device might relieve the energy load carried by the foot, thus reducing the incidence of march fractures, and should be analyzed in further study.

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Self-Reported Speech Problems in Adolescents and Young Adults with 22q11.2 Deletion Syndrome: A Cross-Sectional Cohort Study

  • Spruijt, Nicole E.;Vorstman, Jacob A.S.;Kon, Moshe;Molen, Aebele B. Mink Van Der
    • Archives of Plastic Surgery
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    • v.41 no.5
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    • pp.472-479
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    • 2014
  • Background Speech problems are a common clinical feature of the 22q11.2 deletion syndrome. The objectives of this study were to inventory the speech history and current self-reported speech rating of adolescents and young adults, and examine the possible variables influencing the current speech ratings, including cleft palate, surgery, speech and language therapy, intelligence quotient, and age at assessment. Methods In this cross-sectional cohort study, 50 adolescents and young adults with the 22q11.2 deletion syndrome (ages, 12-26 years, 67% female) filled out questionnaires. A neuropsychologist administered an age-appropriate intelligence quotient test. The demographics, histories, and intelligence of patients with normal speech (speech rating=1) were compared to those of patients with different speech (speech rating>1). Results Of the 50 patients, a minority (26%) had a cleft palate, nearly half (46%) underwent a pharyngoplasty, and all (100%) had speech and language therapy. Poorer speech ratings were correlated with more years of speech and language therapy (Spearman's correlation=0.418, P=0.004; 95% confidence interval, 0.145-0.632). Only 34% had normal speech ratings. The groups with normal and different speech were not significantly different with respect to the demographic variables; a history of cleft palate, surgery, or speech and language therapy; and the intelligence quotient. Conclusions All adolescents and young adults with the 22q11.2 deletion syndrome had undergone speech and language therapy, and nearly half of them underwent pharyngoplasty. Only 34% attained normal speech ratings. Those with poorer speech ratings had speech and language therapy for more years.

Anti-inflammatory Effect of the Processed Gardeniae Fructus in LPS-induced Macrophages (LPS로 유도된 대식세포에서 수치 치자의 항염효과)

  • An, Iseul;Kim, Sang Chan;Byun, Sung Hui;Lee, Jong Rok;Park, Sook Jahr
    • Herbal Formula Science
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    • v.27 no.4
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    • pp.245-255
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    • 2019
  • Objective : Herbal processing is one of the traditional techniques used in Korean medicine to increase the effectiveness of herbs or reduce their toxicity. In this study, Gardeniae Fructus processed with ginger juice and alcohol was prepared to evaluate the anti-inflammatory effect on lipopolysaccharide (LPS)-induced macrophages. Methods : The processing of Gardeniae Fructus was performed by adding 40 % ginger juice or 10% alcohol to the total weight of Gardeniae Fructus and then roasting at 150℃ for 5 minutes. Cell viability was determined by 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. To detect nitric oxide (NO) production, culture media were mixed with Griess reagent and measured the absorbance at 540 nm. Prostaglandin E2 (PGE2) and pro-inflammatory cytokines were detected by enzyme-linked immunosorbent assay (ELISA). Western blot was applied to monitor protein expression levels. Results : LPS-induced NO, PGE2 and inflammatory cytokines were decreased by the treatment of normal or processed Gardeniae Fructus ethanol extracts (GFE). Compared to normal GFE, the processed GFE showed a stronger inhibitory effect on the production of NO and PGE2. These inhibitory effect of GFE was due to the suppression of inducible nitric oxide synthase (iNOS) and cyclooxygenase-2 (COX-2) mediated from the inhibition of nuclear factor kappa B (NF-κB). Furthermore, processed GFE showed more suppressive effects on the expression of iNOS, COX-2 and IκBα proteins than normal GFE. Conclusion : From these results, it was concluded that GFE had an improved anti-inflammatory effect compared to normal GFE. These results provide an objective evidences for the use of herbal processing in Korean medicine.

Clinico-Radiological Study of Temporomandibular Ankylosis (악관절 강직증 환자의 임상ㆍ방사선학적 연구)

  • Choi Sun Won;Ahn Hyung Kyu
    • Journal of Korean Academy of Oral and Maxillofacial Radiology
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    • v.14 no.1
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    • pp.99-107
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    • 1984
  • The auther studied clinically and. radiologically 48 cases which had been diagnosed as TMJ ankylosis in SNUDH (1974-1984). The purpose of this study is to analyse clinical features of TMJ ankylosis and to evaluate the effect of TMJ ankylosis on the growth of the mandible. The obtained results were as follows: 1. Total 48 cases of TMJ ankylosis patients consist of 23 males and 25 females. 65 percent of all cases of TMJ ankylosis occurred in patients between 1 and 10 years of age. The awerage age at the onset of ankylosis was 11.7 and average duration at the time of examination was 11.7 years. 2. Unilateral akylosis (81.3%) was more frequent than bilateral ankylosis (18.7%). 3. Traum a (57.9%) and infection (21.2%) were main etiology. 4. Inability to open the mouth (78.3%) and facial asymmetry (17.4%) were main chief complaints. 5. Mandibular morphology through radiographic features. (a) In TMJ ankylosis patients the ramus length of the ankylosed side was shorter than that of the non-ankylosed side. Comparing with the centrol group, ramus length of the each side was shorter than normal value. (b) The partial body length of the ankylosed side was longer than that of the non-ankylosed side. Comparing with the control group, partial body length of the each side was longer than normal value. Partial body length was related with antegonial notch depth. (c) Ratio of upper and lower ramus length at the level of mandibular foramen was smaller in ankylosed side than in non-ankylosed side. (d) Antegonial notch depth and ramus posterior contour depth were deeper in ankylosed side than in non-ankylosed side and those of both sides were deeper than normal value. (e) Gonial angle in ankylosed side was larger than in non-ankylosed side and that in both sides was smaller than normal value.

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Effects of Gami-Choakwiyeum on the PPAR-${\gamma}$ in the Bronchial sthma Mouse Model (천식 쥐 모델에서 가마좌귀음이 PPAR-${\gamma}$에 미치는 영향)

  • Lee, Hai-Ja
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.20 no.6
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    • pp.1593-1597
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    • 2006
  • We hope to evaluate the effects of Gami-Choakwiyeum (GCKY) on the PPAR-${\gamma}$’ in the OVA induced asthma mouse model. Female BALB/c mice, 8 weeks of age and free of murine specific pathogens were used. Mice were sensitized by intraperitoneal injection of OVA emulsified in aluminum hydroxide in a total volume of 200 ${\mu}{\ell}$ on one day and 14 days. On 21, 22, and 23 days after the initial intraperitoneal injection of OVA, the mice were challenged using an ultrasonic nebulizer. GCKY was administered 7 times by oral gavage at 24 hour intervals fromdays 19 after intraperitoneal injection of OVA. Bronchoalveolar lavage was perfromed 72 hours after the last challenge, and total cell numbers in the BAL fluid were counted. Also, the level of PPAR-${\gamma}$ of normal and OVA-induced asthma moused with/without administration of GCKY were measured by Western blot analysis. For the histologic examination, the specimens were stained with hematoxylin 2 and eosin-Y.(H & E). Numbers of total cells were increased significantly at 72 h after OVA inhalation compared with numbers of total cells in the normal and the administration of GCKY. Especially, the increased numbers of eosinophils in BAL fluids after OVA inhalation were significantly increased. However, the numbers of eosinophils reduced by the administration of GCKY. Western blot analysis revealed that PPAR-${\gamma}$ levels in nuclear level were increased slightly after OVA inhalation compared with the levels in the normal group. After the administration of GCKY, PPAR-${\gamma}$ levels in cytosolic and nuclear levels at 72 h after OVA inhalation were markedly increased. On pathologic examination, there were many acute inflammatory cells around the alveoli, bronchioles, and airway lumen of mice with OVA-induced asthma compared with inflammatory cells in the normal group. However, acute inflammatory cells around alveoli, bronchioles, and airway lumen markedly decreased after administration of GCKY, GCKY can increase a PPAR-${\gamma}$ level and could be an effective treatment in asthma patients through the PPAR-${\gamma}$ mechanism for bronchial asthma.

An Extended Generative Feature Learning Algorithm for Image Recognition

  • Wang, Bin;Li, Chuanjiang;Zhang, Qian;Huang, Jifeng
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • v.11 no.8
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    • pp.3984-4005
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    • 2017
  • Image recognition has become an increasingly important topic for its wide application. It is highly challenging when facing to large-scale database with large variance. The recognition systems rely on a key component, i.e. the low-level feature or the learned mid-level feature. The recognition performance can be potentially improved if the data distribution information is exploited using a more sophisticated way, which usually a function over hidden variable, model parameter and observed data. These methods are called generative score space. In this paper, we propose a discriminative extension for the existing generative score space methods, which exploits class label when deriving score functions for image recognition task. Specifically, we first extend the regular generative models to class conditional models over both observed variable and class label. Then, we derive the mid-level feature mapping from the extended models. At last, the derived feature mapping is embedded into a discriminative classifier for image recognition. The advantages of our proposed approach are two folds. First, the resulted methods take simple and intuitive forms which are weighted versions of existing methods, benefitting from the Bayesian inference of class label. Second, the probabilistic generative modeling allows us to exploit hidden information and is well adapt to data distribution. To validate the effectiveness of the proposed method, we cooperate our discriminative extension with three generative models for image recognition task. The experimental results validate the effectiveness of our proposed approach.