• Title/Summary/Keyword: 신장변형

Search Result 173, Processing Time 0.025 seconds

A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia

  • Ko, Jung-Min;Kwack, Kyu-Sung;Baek, Kum-Nyeo;Cho, Dae-Yeon;Kim, Hyon-Ju
    • Journal of Genetic Medicine
    • /
    • v.6 no.1
    • /
    • pp.81-86
    • /
    • 2009
  • Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

  • PDF

Leisure Time Physical Activity and its Relationship to Coronary Risk Factors in Male Workers (성인남성 근로자의 여가시간 중 육체적 활동양상 및 관상동맥질환 위험인자들과의 관련성)

  • Rho, Yun-Kyeong;Yeh, Min-Hae;Lee, Sung-Kook;Chun, Byung-Yeol
    • Journal of Preventive Medicine and Public Health
    • /
    • v.26 no.3 s.43
    • /
    • pp.332-346
    • /
    • 1993
  • This study was attempted to observe leisure time physical activity pattern and its relationship to coronary risk factors (BMI, systolic blood pressure, diastolic blood pressure, serum total cholesterol, triglycerides, fasting blood sugar). Subjects participated in this study were 277 adult male workers of an industry in Kyungpook province, Korea. Energy expenditure were measured using modified Physical Activity History questionnaire of CARDIA study by interviewing. Serum total cholesterol, triglycerides and blood sugar level were tested with 5 ml fasting blood and height, weight and blood pressure were masured. Data on smoking and drinking habits and others were obtained. Geometric mean of leisure time physical energy expenditure were estimated as 212.80 kcal per week for study subjects and only 22.4% of them expended 2,000 kcal or more per week in leisure time physical activity. Taking walks or hikes and jogging or running were more frequent leisure time physical activities in study subjects. Statistically significant mean differences in total weekly leisure time physical activity for all coronary risk factors were not found among three groups. Because energy expenditure of leisure time was generally low in this subjects and most of them were healthy men, we did not found that leisure time physical activity was significantly associated with coronary risk factors.

  • PDF

Study on Rheological Properties of Wheat Flour Mixed with Garlic Powder (마늘 분말을 첨가한 국수의 유변학적 특성)

  • Lee, Hyun-Joo
    • The Korean Journal of Food And Nutrition
    • /
    • v.26 no.3
    • /
    • pp.345-351
    • /
    • 2013
  • The purpose of this study was to investigate the rheological properties of noodles containing garlic powder, which was added to noodle bases at 1, 3 and 5% concentrations. The physical properties of the noodles with garlic powder were tested by a rapid viscoanalyzer (RVA), a farinogram, and an alveogram. The initial pasting temperature were increased with the increments in the ratio of garlic powder, whereas peak viscosity, breakdown decreased. The consistency of Farinogram was increased with the increments in the ratio of garlic powder but did not show a significant difference. The mechanical tolerance index value of noodles containing garlic powder were lower than that of the control. The $P_{max}$ and L value of the alveogram decreased with garlic powder increments.

Assessment of the Bioavailability and Nutritive Function of Genetically Modified β-Carotene-biofortified Rice by Using Wistar Rats (유전자변형 β-carotene 강화 쌀의 생체 이용과 영양기능성 탐색)

  • Lee, Young-Tack;Lee, Kyung-Won;Seong, Ki-Seung;Kim, Sung-Soo;Lee, Jong Seok;Lee, Ok-Hwan;Cho, Hyun-Seok;Suh, Seok-Chul;Han, Chan-Kyu
    • Korean Journal of Food Science and Technology
    • /
    • v.46 no.2
    • /
    • pp.213-218
    • /
    • 2014
  • The purpose of this study was to investigate the bioavailability and nutritive functions of Nak-Dong rice or genetically modified ${\beta}$-carotene-biofortified rice (GM rice) in an experimental animal model. Wistar rats fed either GM rice or Nak-Dong rice did not show differences in bioavailability, growth, organ weights, or visceral fat, suggesting that the nutrient content of GM rice is compositionally equivalent to that of conventional Nak-Dong rice. In addition, GM rice showed improved nutritive function in terms of increased defecation, decreased lipids, and decreased blood glucose.

Transcriptional Regulation of Genes by Enhancer RNAs (인핸서 RNA에 의한 유전자 전사 조절)

  • Kim, Yea Woon;Kim, AeRi
    • Journal of Life Science
    • /
    • v.26 no.1
    • /
    • pp.140-145
    • /
    • 2016
  • Genes in multicellular organisms are transcribed in development, differentiation, or tissue-specific manners. The transcription of genes is activated by enhancers, which are transcription regulatory elements located at long distances from the genes. Recent studies have reported that noncoding RNAs are transcribed from active enhancers by RNA polymerase II (RNA Pol II); these are called enhancer RNAs (eRNAs). eRNAs are transcribed bi-directionally from the enhancer core, and are capped on the 5’ end but not spliced or polyadenylated on the 3’ end. The transcription of eRNAs requires the binding of transcription activators on the enhancer and associates positively with the transcription of the target gene. The transcriptional inhibition of eRNAs or the removal of eRNA transcripts results in the transcriptional repression of the coding gene. The transcriptional procedure of eRNAs causes enhancer- specific histone modifications, such as histone H3K4me1/2. eRNA transcripts directly interact with Mediator and Rad21, a cohesin subunit, generating a chromatin loop structure between the enhancer and the promoter of the target gene. The recruitment of RNA Pol II into the promoter and its elongation through the coding region are facilitated by eRNAs. Here, we will review the features of eRNAs, and discuss the mechanism of eRNA transcription and the roles of eRNAs in the transcriptional activation of target genes.

Biomechanical considerations for the screw of implant prosthesis: A literature review (임플란트 나사에 적용되는 생역학적 원리: 문헌고찰)

  • Im, So-Min;Kim, Dae-Gon;Park, Chan-Jin;Cha, Min-Sang;Cho, Lee-Ra
    • The Journal of Korean Academy of Prosthodontics
    • /
    • v.48 no.1
    • /
    • pp.61-68
    • /
    • 2010
  • Purpose: This article attempted to determine the factors affecting the preload and screw loosening. Methods: Available clinical studies from 1981 to 2008 from the PUBMED that presented screw loosening data and review articles regarding screw joint stability were evaluated. Eleven studies dealing the biomechanical principles of the screw mechanics were reviewed. Moreover, the results of our data were included. Results: The frequency of screw loosening was consequently reduced due to the advancement in torque tightening with torque wrench, screw material, coating technique for reducing the frictional force, and thread design, etc. If preload in the screw falls below a critical level, joint stability may be compromised, and the screw joint may fail clinically. The types of fatigue failure of screw were divided to adhesive wear, plastic deformation, and screw fracture. Conclusion: An optimum preload is essential to the success of the implant-abutment complex. To maintain optimum preload, using a torque wrench and re-tightening at recall time were needed.

Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

  • Ko, Jung-Min;Kwack, Kyu-Sung;Kim, Sang-Hyun;Kim, Hyon-Ju
    • Journal of Genetic Medicine
    • /
    • v.7 no.2
    • /
    • pp.145-150
    • /
    • 2010
  • Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

Effects of histochemical staining in microwave-irradiated tissues (마이크로파 처리 고정 조직의 조직염색 효과)

  • Lee, Yoon-Jin;Lee, Sang-Han
    • Journal of the Korea Academia-Industrial cooperation Society
    • /
    • v.20 no.8
    • /
    • pp.417-424
    • /
    • 2019
  • Despite its superior ability to show distinct cellular morphology and for long-term storage, conventional tissue fixation by formalin has many drawback, including slower fixation, the exposure to harmful chemicals and extensive protein modification. Herein, we assessed the effects of rapid microwave-assisted tissue fixation on histological examination and on protein integrity by comparing these microwave irradiation fixated tissues with the formalin-fixed tissues. One of the paired mouse tissues (liver and kidney) was fixed in formalin and the other was fixed by using microwave irradiation in phosphate buffered saline. Each slide from the paraffin-embedded tissues was examined by H & E staining for the adequacy of fixation and by immunohistochemical staining for antigenicity in a blinded fashion. Evaluation of protein recovery and the protein quality from the fixed tissues were analyzed by the BCA method and Western blotting, respectively. The results from H & E staining and immunohistochemical staining showed that the sections obtained from microwave-fixed tissues under our experimental conditions were comparable to those of the formalin-fixed tissues except for the integrity of RBCs. Furthermore, proteins were effectively extracted from the microwave-fixed tissues with acceptable preservation of the proteins' quality. Taken together, this microwave-assisted tissue processing yields a quick fixation and better protein recovery in higher amounts, as well as the adequacy of fixation and the antigenicity being comparable to formalin-fixed tissues, and this all suggests that this new fixation technique can be applied in an environment where rapid tissue fixation is required.

A Study on Pullout Stability according to Abutment Shape of True Mechanicaaly Stabilized Earth Wall Abutment (순수형 보강토교대의 교대 형상에 따른 인발 안정성 검토)

  • Shin, Keun-Sik;Han, Heui-Soo
    • Journal of the Korea Academia-Industrial cooperation Society
    • /
    • v.20 no.3
    • /
    • pp.594-601
    • /
    • 2019
  • A true MSEW abutment is an abutment type that directly supports the load of a superstructure. Metal strips, which are in-extensile reinforcements, should be used to minimize abutment deformation. A study to derive the application conditions of a True MSEW abutment was carried out by Zevogolis(2007). As a result, the pullout factor of safety of the uppermost reinforcement was estimated to be the smallest. Therefore, the pullout factor of safety of the uppermost reinforcement is the most important design factor. Parameter analysis was conducted with the abutment length, abutment heel, and abutment height as variables. The pullout factor of safety increased with increasing abutment length and abutment heel length. This is because the contact area increases and the superstructure is dispersed as the abutment length and abutment heel length increase. The pullout factor of safety converges at an abutment length of 1.2m and an abutment heel length of 0.9m. This is because the effective length of the reinforcement is reduced due to the increase in contact area. On the other hand, the extension of the superstructure will increase if the abutment length and abutment heel length are increased excessively. In addition, earth-volume is increased if the abutment height increases excessively. This acts as an upper load on the MSE wall. Therefore, it needs to be examined carefully.

A study of Jeju Buddhist art and Bok-sin Maitreyas (제주의 불교미술과 자복미륵)

  • Lee, Kyung-Hwa
    • Korean Journal of Heritage: History & Science
    • /
    • v.51 no.3
    • /
    • pp.104-121
    • /
    • 2018
  • The purpose of this paper is to contribute to a more comprehensive understanding of the Buddhist art in Jeju which has rarely been in the mainstream discussions about the Korean art by focusing on the statues of Jabok Mireuk, or Maitreya of Wealth and Fortune. The Buddhist art in Jeju reached its heyday during the late phase of the Goryeo period (918-1392). The imperial court of Yuan (1271-1368) established Beophwasa, one of its guardian temples which was also a "complementary temple" of Goryeo (918-1392). In 1296, the community of monks based in Myoryeonsa Temple published the Jeju edition of the Buddhist canon granted by the royal court of Goryeo, contributing to the foundation of the island's academic culture. Other items representing the heyday of the Buddhist art of Jeju include the Vajra Guardian carved on the greenschist pagoda of Sujeongsa Temple built during the late Goryeo period and the Five-story Stone Pagoda of Bultapsa Temple made from the locally obtained basalt rock during the early $14^{th}$ century. The Buddhist art of Jeju during the Joseon period (1392-1910) is represented by Jabok Mireuk, or Maitreya of Wealth and Fortune, a pair of stone statues of Maitreya Buddha carved to feature three aspects of the Maitreya worship spread among the local folks in the period. Each of the statues is in a peaked cap and official's robe and characterized by bulging eyes comparable to those of the Buddhist guardian deities such as the Vajra guardian who were designed to protect a sacred area against evil forces. The Maitreya statues provide valuable sources of knowledge about the types of Maitreya adopted by the worshippers of local folk religion in the Joseon period. The Jabok Mireuk statues in Jeju can be easily compared with the Two Rock-carved Standing Buddhas in Yongmi-ri, Paju (1471), and the two standing stone Buddhas in Daeseongsa Temple in Okcheon (ca 1491) and on the Sipsinsa Temple site in Gwangju in that they all wear peaked caps in the "treasure canopy" style which gained popularity during the early Joseon period. One may conclude then that these statues are related with the Neo-Confucian elites who wanted the Joseon dynasty they established to prosper under the auspices of the Buddha of the Future. Interestingly, the enshrinement of the stone Buddha of Daeseongsa Temple is presumed to have been participated by Yuk Han who had served as the Governor (Moksa) of Jeju, suggesting its connection with the Jabok Mireuk despite the regional difference in their style.