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Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma

  • Kim, Sol-Lip;Ki, Chang-Seok;Kim, Kyoung-Mee;Lee, Myoung-Gun;Kim, Se-Hwa;Bae, Jae-Moon;Kim, Jong-Won
    • BMB Reports
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    • v.44 no.11
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    • pp.725-729
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    • 2011
  • We report a novel mechanism of a CDH1 splicing mutation in a patient with signet ring cell carcinoma of the stomach. A 27-year-old man complaining of aggravated dyspepsia was diagnosed with signet ring cell carcinoma. Both his father and uncle had died of stomach cancer at a young age. DNA sequencing analysis of the CDH1 gene revealed a splice site mutation (c.833-2A>G). By RNA/cDNA sequencing analysis, CDH1 c.833-2A>G generated a new acceptor site within intron 6, causing the insertion of a 79-bp intronic sequence between exon 6 and 7 (r.833-79_833-1ins), and resulting in a frame shift. E-cadherin immunohistochemical staining revealed a loss of CDH1 expression. This study reveals the disease-causing mechanism of this splicing mutation, and emphasizes the need for functional studies using RNA samples for the accurate interpretation of detected splicing variant. This is the first reported case of a CDH1 mutation in a Korean patient.

A Study on Western Women's Hair Style in Twenty century (20세기 서구여성 Hair Style 변천에 관한 연구)

  • 김희숙
    • Journal of the Korean Society of Costume
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    • v.22
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    • pp.313-332
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    • 1994
  • The purpose of this study were as follows : 1) Investigate how to intluence Clothes with time background and trends of art-thought in the twenty century. 2) To understand chronologically how to change hair style Make-up and hair decor-ation. I. 1st and 2nd World War time(1920-1945) The women's social status and their sexual equality was promoted during in this time. 1) African Art Surrealism and Expression art were doninated. 2) The popalar trends were tutular silhoutte (Slim and long) boyish Style and military lookwere popular. 3) The popalar trends of were Eton Crop. short bob gaconne hair style cloche hat. page boy hair style were popular. 4) The trend of make-up which specially. emphasized eye make-up and imitated movie star make-up and make shining redish of lip and nails were popular. II. The stage of modernism(1945-1969) cold war time between communism and capi-talism and promotin of women's human rights were established in this time. 1) Pop art avantgrade art were catched up 2) The popular trends of were new look Kior's line silhoutte mini skirt and young fashion. 3) The popular trend of hair style was french twist. Pill Boxs hat curly bob style were prevalenced and they some what dwarfed hair style. 4) make-up natural make-up was popular. III. The stage of high economic development (1969-1990) Increased population economic development were tend to specialize with anti-social action such as Hippie and Punk groups. 1) Op art Androgynous post-modernism Punk and neo-modernism were catched up. 2) Clothes : classic style of reactionism layered look Punk-fashion avantgrade fashion and pantalon suits were prevalence. 3) Hair Style : Twiggy's short hair style the geometric hair cut natural long hair Spike hair unsex-hair style. 4) Make-up : diversified individuality were prevalence The result of this study indicated that the value's of recognize the importance of total fashion that is the harmonization of clothes hair style and make-up.

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A Study on the Koguryo ancient mural paintings in the An-Ak 3rd ancient tomb, focusing on the hair styles (안악3호분을 통해서 본 머리모양 연구)

  • Kim Min-Sun;Maeng You-Jin;Lee Sang-Eun
    • Journal of the Korea Fashion and Costume Design Association
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    • v.7 no.3
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    • pp.95-112
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    • 2005
  • Hair styles, dresses and their ornaments are basic measures that show the trend of the times, the people and their life in both Eastern and Western societies. The history of a country could start or be extinguished at any time, but life goes on. Koguryo was founded around Anno Domini and fell at 668 A. D. What was Koguryo people like? How was their hair style and costume? This study aims to respond those questions. The Koguryo ancient mural paintings can be broadly divided into the Jip-An region and the Pyon-Yang region. Among the paintings found, that in the An-Ak 3rd ancient tomb at the Pyon-Yang region is the biggest and the most splendid. It is a figure genre painting, which contains a kitchen, a rice mill, a stable, a barn, a garage, etc. Those places illustrate the way of life at the time. The painting also comprises a man with a crown, who is seen as the king and owner of this tomb. The woman with a vertically designed hair style is perceived as the queen. A highly guarded and decorated royal parade is also presented in detail. The hair styles and costume evidence in the An-Ak 3rd ancient tomb are not seen in the paintings of the Jip-An region. This study inquires into the differences between the Pyon-Yang and lip-An regions through the history and the culture of those areas. Nevertheless, it could prove tentative to confirm the owner of the An-Ak 3rd ancient tomb with the only evidence of the words found in the wall of the tomb. It is the author's intention to study and analyse further.

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Fit Testing for Respirators and Development of Fit Test Panels for Koreans (호흡기보호구의 밀착도 검사와 안면규격 Panel의 개발)

  • Han, Don-Hee
    • Journal of Korean Society of Occupational and Environmental Hygiene
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    • v.9 no.1
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    • pp.1-13
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    • 1999
  • Even though there is no fit test regulations in Korea, in many developed countries, respirator fit testing is required before entering specific work environment to ensure that the respirator worn satisfies a minimum of fit and that the user knows when the respirator fits properly. Due to no regulation for fit test, a lot of Korean workers wearing respirators may be potentially exposed to hazards. Anthropometric test panels for testing the fit of respirators are very important to develop respirators fitted properly for Korean workers. To evaluate the fitting performance, 304 workers (272 males, 32 females) and 536 students (268 male, 268 females) were fit tested for 4 full-facepieces (2 domestic-made S, C, and 2 foreign-made T, N), 2 half masks (1 domestic-made S, and 1 foreign-made T) and 3 quarter masks (2 domestic-made S, C, and 1 foreign-made T) with PortaCount 8020. Fit factors of foreign-made masks were higher than those of domestic-made masks in all types. Males were fitted more properly than females. A facial dimension survey of 364 workers (339 males, 25 females) and 158 students (69 males, 89 females) was conducted to develop test panels for fit testing. Subjects were selected on the basis of face length and face width to wear full-facepiece masks in test. For testing half- and quarter masks, face length and lip length were used. Test panels containing 25 male-and-female subjects and 16 male subjects were respectively developed for full-facepiece, and half-and quarter masks to represent a majority of population surveyed.

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Inhibitory Effect of Gallic acid on Production of Chemokine and Growth Factor in Mouse Macrophage Stimulated by Lipopolysaccharide (Gallic acid가 Lipopolysaccharide로 활성화된 마우스 대식세포의 케모카인과 성장인자 생성에 미치는 영향)

  • Park, Wan-Su
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.24 no.4
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    • pp.586-591
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    • 2010
  • Chemokine and Growth Factor are major mediumtors of immuno-inflammatory pathway. The purpose of this study is to investigate whether productions of Chemokine and Growth Factor in lipopolysaccharide (LPS)-induced mouse macrophage RAW 264.7 cells are modulated by Gallic acid (GA), which is easily founded in tannin-containing natural materials such as red wine, green tea, grape juice, and Corni Fructus. Productions of Chemokine and Growth Factor were analyzed by High-throughput Multiplex Bead based Assay with Bio-plex Suspension Array System based on $xMAP^{(R)}$ (multi-analyte profiling beads) technology. At first, cell culture supernatant was obtained after treatment with LPS and GA for 24 hour. Then, the antibody-conjugated beads were added and incubated for 30 minutes. After incubation, detection antibody was added and incubated for 30 minutes. And Strepavidin-conjugated Phycoerythrin (SAPE) was added. After incubation for 30 minutes, the level of SAPE fluorescence was analyzed on Bio-plex Suspension Array System. Based on fluorescence intensity, concentrations of Chemokine and Growth Factor were determined. The results of the experiment are as follows. GA significantly inhibited the production of interferon-inducible protein (IP)-10, keratinocyte-derived chemokine(KC), and vascular endothelial growth factor (VEGF) in LPS-induced RAW 264.7 cells at the concentration of 25, 50, 100, 200 uM (p<0.05). GA significantly inhibited the production of monocyte chemoattractant protein-1(MCP-1) and macrophage-colony stimulating factor(M-CSF) in LPS-induced RAW 264.7 cells at the concentration of 50, 100, 200 uM (p<0.05). GA diminished the production of granulocyte macrophage-colony stimulating factor (GM-CSF) in LPS-induced RAW 264.7 cells. But GA did not show the inhibitory effect on the production of leukemia inhibitory factor (LIP) and macrophage inflammatory protein (MIP)-2 in LPS-induced RAW 264.7 cells. These results suggest that GA has the immuno-modulating activity related with its inhibitory effects on the production of IP-10, KC, MCP-1, VEGF, and M-CSF in LPS-induced macrophages.

Parasitic infections in HIV-infected patients who visited Seoul National University Hospital during the period 1995-2003

  • GUK Sang-Mee;SEO Min;PARK Yun-Kyu;OH Myoung-Don;CHOE Kang-Won;KIM Jae-Lip;CHOI Min-Ho;HONG Sung-Tae;CHAI Jong-Yil
    • Parasites, Hosts and Diseases
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    • v.43 no.1 s.133
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    • pp.1-5
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    • 2005
  • The prevalence of parasitic infections was investigated in human immunodeficiency virus (HIV)-infected patients (n = 105) who visited Seoul National University Hospital, Seoul, Korea, during the period from 1995 to 2003. Fecal samples were collected from 67 patients for intestinal parasite examinations, and sputum or bronchoalveolar lavage samples from 60 patients for examination of Pneumocystis carinii. Both samples were obtained from 22 patients. Thirty-three ($31.4\%$) of the 105 were found to have parasitic infections; Cryptosporidium parvum ($10.5\%$; 7/67), Isospora belli ($7.5\%$; 5/67), Clonorchis sinensis ($3.0\%$; 2/67), Giardia lamblia ($1.5\%$; 1/67), Gymnophalloides seoi ($1.5\%$; 1/67), and Pneumocystis carinii ($28.3\%$; 17/60). The hospital records of the 11 intestinal parasite-infected patients showed that all suffered from diarrhea. This study shows that parasitic infections are important clinical complications in HIV-infected patients in the Republic of Korea.

Principal Component Analysis and Molecular Characterization of Reniform Nematode Populations in Alabama

  • Nyaku, Seloame T.;Kantety, Ramesh V.;Cebert, Ernst;Lawrence, Kathy S.;Honger, Joseph O.;Sharma, Govind C.
    • The Plant Pathology Journal
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    • v.32 no.2
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    • pp.123-135
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    • 2016
  • U.S. cotton production is suffering from the yield loss caused by the reniform nematode (RN), Rotylenchulus reniformis. Management of this devastating pest is of utmost importance because, no upland cotton cultivar exhibits adequate resistance to RN. Nine populations of RN from distinct regions in Alabama and one population from Mississippi were studied and thirteen morphometric features were measured on 20 male and 20 female nematodes from each population. Highly correlated variables (positive) in female and male RN morphometric parameters were observed for body length (L) and distance of vulva from the lip region (V) (r = 0.7) and tail length (TL) and c' (r = 0.8), respectively. The first and second principal components for the female and male populations showed distinct clustering into three groups. These results show pattern of sub-groups within the RN populations in Alabama. A one-way ANOVA on female and male RN populations showed significant differences ($p{\leq}0.05$) among the variables. Multiple sequence alignment (MSA) of 18S rRNA sequences (421) showed lengths of 653 bp. Sites within the aligned sequences were conserved (53%), parsimony-informative (17%), singletons (28%), and indels (2%), respectively. Neighbor-Joining analysis showed intra and inter-nematodal variations within the populations as clone sequences from different nematodes irrespective of the sex of nematode isolate clustered together. Morphologically, the three groups (I, II and III) could not be distinctly associated with the molecular data from the 18S rRNA sequences. The three groups may be identified as being non-geographically contiguous.

10 year follow up of a boy with Lesch Nyhan Syndrome

  • Kim, Sook Za;Song, Wung Ju
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.11 no.1
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    • pp.88-98
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    • 2011
  • Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.

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The Symbolistic Values of Western Beards' Style in the Twentieth Century (20세기 서구 남성 수염 스타일의 상징적 가치)

  • Chang, Mee-Sook;Lee, Hwa-Soon;Lee, Yon-Hee
    • Fashion & Textile Research Journal
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    • v.12 no.1
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    • pp.21-30
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    • 2010
  • The purpose of this study is to research the symbolistic values of western beards' style in the twentieth century. Namely, it is to consider the relationship between social-cultural factors and aesthetic meanings of western beards' style. The contents are, firstly, studying the conception and the types of beard. A beard is the hair that grows on a person's chin, cheeks, neck, and the area above the upper lip. At the World Beard & Moustache Championships, there are moustache category (natural, english, hungarian, dali, fu manchu, freestyle), beard category (natural, musketeer, goatee, sideburns, freestyle), and full beard category (natural, garibaldi, verdi, van dyck, freestyle), Secondly, this paper is continued by researching the history of beard from the ancient to the present day, and thirdly, analyzing political dictatorship, social resistance and expression of personality, religious dignity, related with the change of world situation, the formation of postmodern anti-culture and pop-culture, and the coexistence of traditional culture. There are long and bushy full beards in some religions like Hinduism, Judaism and Islam. The meanings of their beards are purity, life and holiness. The beards of some politicians symbolize dictatorship. Namely, the chaplin of Hitler, the moustache of Hussein and the musketeer of Castro express strong power and charisma. In 1950s'-70s' subcultures, Hipsters' goatee, Bikers' horseshoe, Beat generations' goatee and Hippies' natural represent the lack of adaptability and social resistance. Also, the celebrities and artists like Ronald Colman, Clark Gable, Don Johnson, George Clooney, and Salvador Dali express freedom, personality, and taste with beards. For that matter, the symbolistic values of beards' style in the twentieth century are the religious dignity, the political dictatorship, the social resistance and the expression of personality. Today the beards' style is one of fashion items as well as a symbol of masculinity, customs and classes.

Perceptual Speech Assessment after Maxillary Advancement Osteotomy in Patients with a Repaired Cleft Lip and Palate

  • Kim, Seok-Kwun;Kim, Ju-Chan;Moon, Ju-Bong;Lee, Keun-Cheol
    • Archives of Plastic Surgery
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    • v.39 no.3
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    • pp.198-202
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    • 2012
  • Background : Maxillary hypoplasia refers to a deficiency in the growth of the maxilla commonly seen in patients with a repaired cleft palate. Those who develop maxillary hypoplasia can be offered a repositioning of the maxilla to a functional and esthetic position. Velopharyngeal dysfunction is one of the important problems affecting speech after maxillary advancement surgery. The aim of this study was to investigate the impact of maxillary advancement on repaired cleft palate patients without preoperative deterioration in speech compared with non-cleft palate patients. Methods : Eighteen patients underwent Le Fort I osteotomy between 2005 and 2011. One patient was excluded due to preoperative deterioration in speech. Eight repaired cleft palate patients belonged to group A, and 9 non-cleft palate patients belonged to group B. Speech assessments were performed preoperatively and postoperatively by using a speech screening protocol that consisted of a list of single words designed by Ok-Ran Jung. Wilcoxon signed rank test was used to determine if there were significant differences between the preoperative and postoperative outcomes in each group A and B. And Mann-Whitney U test was used to determine if there were significant differences in the change of score between groups A and B. Results : No patients had any noticeable change in speech production on perceptual assessment after maxillary advancement in our study. Furthermore, there were no significant differences between groups A and B. Conclusions : Repaired cleft palate patients without preoperative velopharyngeal dysfunction would not have greater risk of deterioration of velopharyngeal function after maxillary advancement compared to non-cleft palate patients.