• Title/Summary/Keyword: Rare forms

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Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China

  • Zhang, Wen;Lin, Ruizhu;Lu, Zhikun;Sheng, Huiying;Xu, Yi;Li, Xiuzhen;Cheng, Jing;Cai, Yanna;Mao, Xiaojian;Liu, Li
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.23 no.6
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    • pp.558-566
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    • 2020
  • Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.

A Case with Perinatal Hypophosphatasia Caused by the ALPL Mutations (ALPL 유전자의 돌연변이를 가진 양성 주산기 저인산증 1례)

  • Kim, Joonil;Kang, Eungu;Kim, Yoon-Myung;Lee, Beom Hee;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.3
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    • pp.141-147
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    • 2016
  • Hypophosphatasia is caused by the mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). It can be inherited either in an autosomal dominant or recessive manner. Clinically, hypophophosphatasia is characterized by skeletal findings similar to those in rickets or osteomalacia, but serum alkaline phosphatase levels are decreased in the affected patients. Hypophosphatasia can be classified into six clinical forms according to age at diagnosis and severity of symptoms: perinatal lethal, infantile, childhood, adult, odontohypophosphatasia, and perinatal benign. As being a very rare disease, only one case has been reported in Korean population. Here we describe a case with perinatal benign hypophosphatasia with recessive ALPL mutations. Bowing of lower legs was detected in prenatal period and low serum alkaline phosphatase level was noted after birth. During the follow-up evaluation for 4.5 years, bone mineralization and legs bowing were improved but the growth retardation was persistent. As the recombinant bone-targeted human TNSALP became available, the clinical improvement of the affected patients is expected including the case described here with this treatment. More efforts are needed to identify the cases affected by hypophosphatasia.

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The Comparative Study of Flora around the Geumgang Area (금강 수계의 식물상 비교 연구)

  • Kim, Young-Hyun;Park, Jeong-Mi;Jang, Chang-Gee
    • Korean Journal of Environmental Biology
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    • v.27 no.2
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    • pp.216-229
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    • 2009
  • The flora of vascular plants in the Geumgang area (Mt. Guryongsan, Mt. Jeonwolsan, Mt. Samasan, Mt. Yongmeorisan and Mt. Hamrasan) was investigated to suggest strategies for conservation. This study was performed from May 2007 to April 2008, with total 17 times. The Korean endemic species, legally protected species and species to threaten domestic ecosystem species to threaten were grasped on this study. The flora consists of 334 taxa, 86 families 246 genera 297 species 34 varieies and 3 forms in total results from 5 sites in this study. Korean endemic species were confirmed 8 taxa. No rare and endangered species were found in this study. The 2 taxa of the fourth grade of specially designated plants announced the Ministry of Environment were investigated and 8 taxa of the third grade were confirmed. In totally, 24 taxa that are specially designated plants announced the Ministry of Environment including the first and the second grade taxa. 25 taxa of alien naturalized plants were confirmed. The degree of destroy of forest vegetation and reduction of plant diversity in the midstream of Geumgang were in proceeding by construction of multifunctional administrative city and cultivation. It is needed to set up strategies for conservation forest vegetation in this study area.

Floristic features of paddy fields in South Korea (우리나라 논 경작지에 출현하는 식물상 특성)

  • Kim, Myung-Hyun;Eo, Jinu;Song, Young-Ju;Oh, Young-Ju
    • Korean Journal of Environmental Biology
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    • v.37 no.4
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    • pp.690-706
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    • 2019
  • Paddy fields play an important role in the biodiversity conservation of agroecosystems as man-made wetlands. This study focused on the floristic composition and characteristics of paddy fields in South Korea. The flora surveys were conducted in 33 areas in nine provinces at two times (June and August) in 2016. The results showed that the vascular plants of the paddy fields in South Korea included 389 taxa, composed of 51 families, 219 genera, 350 species, four subspecies, 30 varieties, and five forms. Among the 51 families, Gramineae was the most diverse in species (76 taxa), followed by Compositae (61 taxa), Leguminosae (32 taxa), Cyperaceae (27 taxa), Polygonaceae (15 taxa), and Scrophulariaceae (12 taxa). Based on the occurrence frequency of each species, Digitaria ciliaris (Retz.) Koel. (100%), and Echinochloa crus-galli (L.) P.Beauv. (100%) were the highest, followed by Acalypha australis L. (97.0%), Bidens frondosa L. (97.0%), Alopecurus aequalis Sobol. (97.0%), Rorippa palustris (Leyss.) Besser (93.9%), Ludwigia prostrata Roxb. (93.9%), Lemna perpusilla Torr. (93.9%), Mazus pumilus (Burm. f.) Steenis(90.9%), Rorippa palustris(Leyss.) Besser(87.9%), Eclipta prostrata(L.) L.(87.9%), Commelina communis L.(87.9%), Artemisia princeps Pamp.(84.8%), Erigeron annuus (L.) Pers.(84.8%), Cyperus microiria Steud.(84.8%), and Aneilema keisak(Hassk.) Hand.-Mazz. (81.8%). The biological type of paddy fields in South Korea was determined to be Th-R5-D4-t type. Rare plants were found in six taxa: Aristolochina contorta Bunge, Penthorum chinense Pursh, Sagittaria sagittifolia subsp. leucopetala (Miq.) Hartog, Ottelia alismoides (L.) Pers., Pseudoraphis ukishiba Ohwi, and Acorus calamus L. Eighty taxa contained naturalized plants composed of 15 families, 54 genera, 76 species, three varieties, and one form. The urbanization and naturalization indices were 24.8% and 20.6%, respectively.

Floristic features of orchards in South Korea (우리나라 과수원에 출현하는 식물상 특성)

  • Kim, Myung-Hyun;Nam, Hyung-Kyu;Eo, Jinu;Song, Young-Ju
    • Korean Journal of Environmental Biology
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    • v.37 no.4
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    • pp.447-466
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    • 2019
  • The orchard flora where perennial fruit trees are grown may be different than in arable fields where annual crops are grown. The study focused on the floristic composition and characteristics of orchards in South Korea. The flora surveys were conducted in 36 areas in nine provinces at two times (May-June and August-September) in 2014. The results showed that the vascular orchard plants in South Korea included 466 taxa, which contained 91 families, 278 genera, 420 species, two subspecies, 39 varieties, four forms, and one hybrid. Among the 91 families, Compositae was the most diverse in species (66 taxa), followed by Gramineae (51 taxa), Leguminosae (28 taxa), Cyperaceae (18 taxa), Polygonaceae (17 taxa), Cruciferae (16 taxa), and Labiatae (14 taxa). Based on the occurrence frequency of each species, Digitaria ciliaris (Retz.) Koel. (100%) was the highest, followed by Acalypha australis L. (94.4%), Commelina communis L. (94.4%), Persicaria longiseta(Bruijn) Kitag.(91.7), Capsella bursa-pastoris(L.) L. W. Medicus(91.7%), Erigeron annuus (L.) Pers. (91.7%), Mazus pumilus (Burm. f.) Steenis (86.1%), Artemisia princeps Pamp. (86.1%), Cyperus microiria Steud. (86.1%), Stellaria aquatica (L.) Scop. (83.3%), Stellaria media(L.) Vill.(83.3%), and Echinochloa crus-galli (L.) P. Beauv.(83.3%). The biological type of orchards in South Korea was determined to be Th-5-D4-e type. Rare plants were found six taxa: Cinnamomum camphora (L.) J. Presl, Aristolochia contorta Bunge, Melothria japonica (Thunb.) Maxim., Ardisia crenata Sims, Gnaphalium hypoleucum DC., and Aster koraiensis Nakai. Eighty-five taxa contained naturalized plants composed of 23 families, 58 genera, 80 species, four varieties, and one form. The urbanization and naturalization indices were 26.3% and 18.2%, respectively.

Anti-cancer Activity of Paclitaxel, Lenvatinib and Radiation Combination Therapy on Anaplastic Thyroid Cancer in Vitro and in Vivo (Paclitaxel, Lenvatinib 및 방사선 병용 요법의 역형성 갑상선암에서의 항암 작용)

  • Jun, Shiyeol;Kim, Soo Young;Kim, Seok-Mo;Park, Ki Cheong;Kim, Hee Jun;Chang, Ho Jin;Lee, Yong Sang;Chang, Hang-Seok;Park, Cheong Soo
    • Korean Journal of Head & Neck Oncology
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    • v.35 no.2
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    • pp.19-25
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    • 2019
  • Background/Objectives: Although anaplastic thyroid carcinoma (ATC) is rare, it is one of the deadliest forms of thyroid cancer. The fatality rate for ATC is high, and the survival rate at one year after diagnosis is <20%. The present study aimed to investigate the anti-tumor activities of paclitaxel, radiation, and tyrosine kinase inhibitor (TKI) combined therapy in anaplastic thyroid cancer cells both in vitro and in vivo and explore its effects on apoptotic cell death pathways. Materials & Methods: ATC cell line was exposed to TKI, lenvatinib in the presence or absence of paclitaxel with radiation, and cell viability was determined by MTT assay. Effects of the combined treatment on cell cycle and intracellular signaling pathways were assessed by flow cytometry and western blot analysis. The ATC cell line xenograft model was used to examine the anti-tumor activity in vivo. Results: Our data revealed that the combined administration of paclitaxel, TKI, and radiation decreased cell viability in ATC cells, and also significantly increased apoptotic cell death in these cells, as demonstrated by the cleavage of caspase-3 and DNA fragmentation. This combination therapy reduced anti-apoptotic factor levels in ATC cells, while significantly decreasing tumor volume and increasing survival in ATC xenografts. Conclusion: These results indicate that administering the combination of paclitaxel, TKI, and radiation therapy may exert significant anticancer effects in preclinical models, potentially suggesting a new clinical approach for treating patients with ATC.

Su-Hyeon Kim Through Lacan: The Subject and The Desire Focused on the Heroines of the , (라깡을 통해 본 김수현 작가의 주체와 욕망 <사랑과 야망>, <내 남자의 여자>의 여주인공을 중심으로)

  • Yoo, Jin-Hee
    • The Journal of the Korea Contents Association
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    • v.12 no.9
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    • pp.126-135
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    • 2012
  • This study is the subsequent full-scale research of a TV drama writer who has been out of scholarly pursuits as it explores Su-Hyeon Kim's underlying consciousness with focusing on her heroines, the and . The author Su-Hyeon Kim clearly distinguishes a TV melodrama from a TV home-drama by her own self-control, which is a rare case in TV drama genres, therefore, her consciousness lights up at her melodrama. This study applies Lacanian theory to the author's melodramas for examining the author's under-lying thought. For Lacan the subject is an 'alienated', 'privative', 'fractured' 'being' as an imperfect language, the symbolic order, forms the subject through its signification. The subject desires the other's desire, and wants to become an object for the other's desire. The desire constantly demands an integral world, a perfect love, the wholly harmonious imaginary order. And it lasts up as it refuses the symbolic order's imperfection while it works its unconscious fantasy. Lacan states that only the 'traversing the fantasy', 'separation' would give birth to the real, liberated subject. Despite a 20-years of rift within two works, the and have an identical conflict core, that is a subject's constitutive, fundamental privation and desire of a human being. Su-Hyeon Kim's underlying consciousness complies with her continued theses of an inquiry into the subject's real liberation and freedom when desire of the rings produces the subject's alienation, privation, and the pursuit of a impossible perfect love.

The Vascular Plants in Mt. Gaji (Gyeongsang nam-do) (가지산(경남)의 관속식물상)

  • Kim, Jung-Hyun;Lee, Ji-Yeon;Lee, Byoung-Yoon;Yoon, Chang-Young;Kim, Min-Ha
    • Korean Journal of Plant Resources
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    • v.23 no.4
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    • pp.303-326
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    • 2010
  • This study was carried out to investigate the flora of Mt. Gaji(Gyeongsang nam-do). The vascular plants which are collected in 12 times(from May to Oct. 2006 and Mar. to Oct. 2009) were identified as 573 taxa in total, including 106 families, 314 genera, 503 species, 6 subspecies, 56 varieties, 8 forms. There were many useful plants such as 20 taxa of Korean endemics and 10 taxa of specially designated plants which were determined by the Korea Forest Service. The designated in endangered plants by the Ministry of Environment, which should be protected by the wildlife protection law, were identified as 3 taxa and 64 taxa of specially designated floristic regional indicator plants by the Ministry of Environment. Based on the list of approved for delivering overseas of plants, 23 taxa were recorded in the investigated area. The naturalized plants were identified as 22 taxa, and their naturalization ratio were found to be 3.8% respectively. The 573 taxa listed consists of 217 taxa(37.8%) of edible plants, 181 taxa(31.5%) of medicinal plants, 91 taxa(15.8%) of pasture plants, 86 taxa(15%) of ornamental plants, 19 taxa(3.3%) of timber plants, 11 taxa(1.9%) of fiber plants and 7 taxa(1.2%) of industrial plants.

Traditional Knowledge on the Regional Folk Plants in Inland of Chungcheongnam-do Province, Korea (충남 내륙지역 민속식물의 전통지식)

  • Jeong, Hye-Ran;Kwon, Hye-Jin;Choi, Kyung;Chung, Jae-Min;Moon, Hyun-Shik
    • Korean Journal of Plant Resources
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    • v.27 no.4
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    • pp.309-325
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    • 2014
  • To survey and collect the traditional knowledge on the regional folk plants, we interviewed 125 (male 37, female 88) native inhabitants in inland, 12 cities and counties of Chungnam province from March to October, 2011. The results showed that the regional folk plants in inland of Chungnam province consisted of a total 273 taxa; 92 families, 225 genera, 237 species, 4 subspecies, 29 varieties and 3 forms. Of 273 taxa surveyed ; 5 Korean endemic plants, 8 rare plants and 16 naturalized plants were also included. And of 273 taxa, cultivated plants were 82 taxa and 191 taxa were wild plants. The analysis of use by usage for 273 taxa showed that the edible use was the highest with 981 times, followed by medicinal with 439 times, material with 179 times, oil with 68 times, respectively. The leaf of plant was the most useful part, followed by stem and fruit. The consistency comparison between the Korean name and the local name were the highest in 50's and the lowest in 90's.

Flora of Mt. Hambaek-san and its neighboring mountains (함백산 일원의 식물상)

  • Choi, Doo Sub;Son, Dong Chan;Park, Beom Kyun;Ko, Sung Chul
    • Korean Journal of Plant Taxonomy
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    • v.45 no.1
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    • pp.72-95
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    • 2015
  • In order to illustrate the flora of vascular plants distributed in the area of Mt. Hambaek-san and its neighboring mountains, the authors collected vascular plants intensively on Mt. Hambaek-san (1,573 m), Mt. Geumdae-bong (1,418 m) and Mt. Daedeok-san (1,307 m) from April of 2012 to August of 2014. All of them consisted of 90 families, 310 genera, 532 species, 4 subspecies, 73 varieties and 13 forms, with a total of 622 taxa. The total number of vascular plants in the investigated area was 808 taxa (17.55% of all vascular plants in Korea) with the addition of voucher specimens from previous investigations. Among the collected plants, endemic ones were 21 taxa, rare and endangered ones 26 taxa, naturalized ones 30 taxa, useful ones 464 taxa, and floristically specific ones of Korean floristic zones 62 taxa except for species of the first and second grade. Among the floristic zones of the Korean Peninsula, this investigated area showed the typical vegetation of a temperate middle province into which more northern elements than southern elements flowed.