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A Case of Supernumerary Derivative (22) Syndrome Resulting from a Paternal Balanced Translocation (부계의 균형전좌에 의해 발생한 과잉 염색체 22 증후군 1례)

  • Jun, Youn-Soo;So, Cheol-Hwan;Yu, Seung-Taek;Park, Do-Sim;Cho, Eun-Hae;Oh, Yeon-Kyun
    • Neonatal Medicine
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    • v.17 no.1
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    • pp.127-131
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    • 2010
  • Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 3:1 meiotic segregation of the paternal translocation carrier.

Design Development for Fashion-Cultural Products Incorporating Traditional Lattice Patterns (전통창살문양을 응용한 패션문화상품디자인 개발)

  • Kim, Sun-Young
    • Journal of the Korean Society of Costume
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    • v.60 no.9
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    • pp.16-25
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    • 2010
  • This study reinterpreted the formative design elements of traditional grate patterns to create new lattice patterns and come up with a design concept for fashion-cultural products that highlight the uniqueness of traditional Korean culture and its characteristic features. Methodologically, the computer design software programs Adobe Illustrator CS2 and Adobe Photoshop were used to make grate patterns motifs. and they were applied to scarves and again to blouses using a three-dimensional simulation technique. In this study, three basic motifs for a new formative image were set using graphical functions such as omitting, simplifying, overlapping, repeating and reducing shapes based on the images of traditional 亞-shaped, arched and floral lattices, and each motif was expanded to have two variations with different colors applied to them. The direction of basic motif design was set to fit for each of fashion-cultural items such as scarves and blouses. Basic colors for motifs were arranged to create a colorful and modern but staid image in pink, blue, purple, green, yellow and brown tones. Based on a developed motif, changes were made in blouse design with lattice patterns through a variety of effects such as repetition, rotation, cross-arrangement, and oblique arrangement, and three-dimensional simulation was used to bring the design to life. Scarf design employed and applied the existing motifs in an appropriate manner for design purposes and reconstructed them through such effects as repetition, rotation, compositional variation and gradation to express a gorgeous and refined image.

Investigation on the masonry vault by experimental and numerical approaches

  • Guner, Yunus;Ozturk, Duygu;Ercan, Emre;Nuhoglu, Ayhan
    • Earthquakes and Structures
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    • v.23 no.1
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    • pp.13-21
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    • 2022
  • Masonry constructions exhibit uncertain behaviors under dynamic effects such as seismic action. Complex issues arise in the idealization of structural systems of buildings having different material types and mechanical properties. In this study, the structural behavior of a vaulted masonry building constructed using full clay brick and lime-based mortar and sitting on consecutive arches was investigated by experimental and numerical approaches. The dimensions of the structure built in the laboratory were 391 × 196 cm, and its height was 234 cm. An incremental repetitive loading was applied to the prototype construction model. Along the gradually increasing loading pattern, the load-displacement curves of the masonry structure were obtained with the assistance of eight linear displacement transducers. In addition, crack formation areas, and relevant causes of its formation were determined. The experimental model was idealized using the finite element method, and numerical analyses were performed for the area considered as linear being under similar loading effect. From the linear analyses, the displacement values and stress distribution of the numerical model were obtained. In addition, the effects of tie members, frequently being used in the supports of curved load-bearing elements, on the structural behavior were examined. Consequently, the experimental and numerical analysis results were comparatively evaluated.

Orthodontic treatment in a patient with Moebius syndrome: A case report

  • Lee, Sanghee;Moon, Cheol-Hyun
    • The korean journal of orthodontics
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    • v.52 no.6
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    • pp.451-460
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    • 2022
  • Moebius syndrome (MBS) is a congenital neurologic disorder that causes cranio-facial abnormalities. It involves paralysis of the VI and VII cranial nerves and causes bilateral or unilateral facial paralysis, eye movement disorder, and deformation of the upper and lower limbs. The orofacial dysfunctions include microstomia, micrognathia, hypotonic mimetic and lip muscles, dental enamel hypoplasia, tongue deformity, open bite or deep overbite, maxillary hypoplasia, high arched palate, mandibular hyperplasia or features indicating mandibular hypoplasia. This case report presents a 7-year-old male patient who was diagnosed with MBS at the age 2 years. The patient displayed typical clinical symptoms and was diagnosed with Class II malocclusion with a large overjet/overbite, tongue deformity and motion limitation, and lip closure incompetency. Treatment was initiated using a removable appliance for left scissor bite correction. After permanent tooth eruption, fixed appliance treatment was performed for correction of the arch width discrepancy and deep overbite. A self-ligation system and wide-width arch form wire were used during the treatment to expand the arch width. After 30 months of phase II treatment, the alignment of the dental arch and stable molar occlusion was achieved. Function and occlusion remained stable with a Class I canine and molar relationship, and a normal overjet/overbite was maintained after 9.4 years of retainer use. In MBS patients, it is important to achieve an accurate early diagnosis, and implement a multidisciplinary treatment approach and long-term retention and follow-up.

Rapid construction delivery of COVID-19 special hospital: Case study on Wuhan Huoshenshan hospital

  • Wang, Chen;Yu, Liangcheng;Kassem, Mukhtar A.;Li, Heng;Wang, Ziming
    • Advances in Computational Design
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    • v.7 no.4
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    • pp.345-369
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    • 2022
  • Infectious disease emergency hospitals are usually temporarily built during the pneumonia epidemic with higher requirements regarding diagnosis and treatment efficiency, hygiene and safety, and infection control.This study aims to identify how the Building Information Modeling (BIM) + Industrialized Building System (IBS) approach could rapidly deliver an infectious disease hospital and develop site epidemic spreading algorithms. Coronavirus-19 pneumonia construction site spreading algorithm model mind map and block diagram of the construction site epidemic spreading algorithm model were developed. BIM+IBS approach could maximize the repetition of reinforced components and reduce the number of particular components. Huoshenshan Hospital adopted IBS and BIM in the construction, which reduced the workload of on-site operations and avoided later rectification. BIM+IBS integrated information on building materials, building planning, building participants, and construction machinery, and realized construction visualization control and parametric design. The delivery of Huoshenshan Hospital was during the most critical period of the Coronavirus-19 pneumonia epidemic. The development of a construction site epidemic spreading algorithm provided theoretical and numerical support for prevention. The agent-based analysis on hospital evacuation observed "arched" congestion formed at the evacuation exit, indicating behavioral blindness caused by fear in emergencies.

Intersecting Sanctuaries: Exploring Cultural Hybridity at Córdoba's Mosque-Cathedral

  • Soojeong YI
    • Acta Via Serica
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    • v.9 no.1
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    • pp.139-160
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    • 2024
  • This study delves into the concept of cultural hybridity, using the Great Mosque-Cathedral in Córdoba, Spain as a unique case study. This monumental site stands as a testament to the convergence of Islamic and Christian architecture and ideology, a phenomenon that is often discussed in modern contexts. However, this study takes a step further, examining cultural hybridity across historical epochs to reveal its persistent relevance in shaping social and cultural landscapes. Originally a mosque transformed into a Christian cathedral, the Great Mosque-Cathedral is a prime example of this phenomenon, reflecting continuous cultural, architectural, and ideological exchanges between the two religions. This paper meticulously analyzes how the structure's architectural elements embody these exchanges, such as its ornate mihrab and unique double-arched columns. By integrating theories of hybridity with a detailed architectural and historical analysis, the study argues that the mosque-cathedral is not merely a physical space but a dynamic medium through which cultural negotiations and adaptations are articulated. The findings underscore the complexity of cultural hybridity, challenging simplistic interpretations of cultural exchange and dominance, and highlighting the mosque-cathedral's role in ongoing debates about identity and heritage in contemporary society. This comprehensive examination contributes to academic discussions on hybridity and enhances our understanding of cultural resilience and transformation through architectural spaces.

Ribosomal Crystallography: Peptide Bond Formation, Chaperone Assistance and Antibiotics Activity

  • Yonath, Ada
    • Molecules and Cells
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    • v.20 no.1
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    • pp.1-16
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    • 2005
  • The peptidyl transferase center (PTC) is located in a protein free environment, thus confirming that the ribosome is a ribozyme. This arched void has dimensions suitable for accommodating the 3'ends of the A-and the P-site tRNAs, and is situated within a universal sizable symmetry-related region that connects all ribosomal functional centers involved in amino-acid polymerization. The linkage between the elaborate PTC architecture and the A-site tRNA position revealed that the A-to P-site passage of the tRNA 3'end is performed by a rotatory motion, which leads to stereochemistry suitable for peptide bond formation and for substrate mediated catalysis, thus suggesting that the PTC evolved by genefusion. Adjacent to the PTC is the entrance of the protein exit tunnel, shown to play active roles in sequence-specific gating of nascent chains and in responding to cellular signals. This tunnel also provides a site that may be exploited for local co-translational folding and seems to assist in nascent chain trafficking into the hydrophobic space formed by the first bacterial chaperone, the trigger factor. Many antibiotics target ribosomes. Although the ribosome is highly conserved, subtle sequence and/or conformational variations enable drug selectivity, thus facilitating clinical usage. Comparisons of high-resolution structures of complexes of antibiotics bound to ribosomes from eubacteria resembling pathogens, to an archaeon that shares properties with eukaryotes and to its mutant that allows antibiotics binding, demonstrated the unambiguous difference between mere binding and therapeutical effectiveness. The observed variability in antibiotics inhibitory modes, accompanied by the elucidation of the structural basis to antibiotics mechanism justifies expectations for structural based improved properties of existing compounds as well as for the development of novel drugs.

DENTAL MANAGEMENT OF A PATIENT WITH KABUKI SYNDROME : A CASE REPORT (가부키 증후군(Kabuki syndrome) 환자의 치과적 관리의 치험례)

  • Kang, Him Chan;Nam, Ok Hyung;Kim, Mi Sun;Choi, Sung Chul;Kim, Kwang Chul;Lee, Hyo-Seol
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.13 no.2
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    • pp.104-107
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    • 2017
  • Kabuki syndrome is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. A 6-year-old male with kabuki syndrome was referred from the local dental clinic for left facial swelling and dental caries on all primary molars. He was treated for acute periapical abscess with incision and drainage under physical restraint, and left maxillary second primary molar was extracted. Other caries treatment was performed under general anesthesia. As the syndrome involves many different medical problems, special cares should be considered. Dental treatment should be carried out in comprehensive consultation system.

A Study for impact absorption function of midsole in Cushioned Marathon Shoes (충격흡수용 마라톤화(Cushioned Shoes) 개발을 위한 중창·하지의 충격흡수기능 연구 -마라톤화 연구의 과거 & 현재를 중심으로-)

  • Park, Seung-Bum;Seo, Kuk-Woong;Kim, Yong-Jae
    • Korean Journal of Applied Biomechanics
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    • v.12 no.1
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    • pp.89-114
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    • 2002
  • The purpose of this study was to analyze impact absorption function of midsole in cushioned marathon shoes. The foot is made up of a complex interaction of bones, ligaments, and muscles. These structures help the foot alternate between being a mobile, flexible adaptor and a stable rigid lever. The foot is broken down into two functional parts, the forefoot and the rearfoot. Cushioned marathon shoes for high arches have generous cushioning for efficient and high-mileage runners. Cushioned marathon shoes are made for feet that have high arches or no excessive motion and don't roll inward or roll outward. This condition is known as underpronation. Especially, Cushioned marathon shoes are designed to reduce shock and generally have the softest (or most cushioned) midsoles and the least medial support. They are usually built on a semicurved or curved last to encourage foot motion, which is helpful for underpronators (who have rigid, immobile feet). Cushioning marathon shoes recommended for the high-arched runner, whose foot may roll outward (supinate) rather than the natural slight inward roll, or whose feet may be relatively rigid. Cushioning shoes emphasize flexibility and usually are built on a curved or semicurved last to encourage a normal motion of the foot. Cushioning shoes usually offer no medial (inner foot) support. Cushioned marathon shoes have the single-density midsole, which is stable and relatively firm for a cushioned shoe, stays the same. But the forefoot is more rounded, and the rearfoot now includes a new and supportive rearfoot cradle. A foam midsole, perhaps with layers of different densities, to provide cushioning and shock absorption. EVA (ethylene vinyl acetate) and PU (polyurethane), the materials from which these foams usually are made. EVA is slightly softer than PU. EVA and PU may be layered together in a shoe, or a shoe may have more than one density of EVA.

A Study on the Stability of Twin Tunnels in Anisotropic Rocks Using Scaled Model Tests (이방성 암반내 쌍굴터널의 안정성에 대한 모형실험 연구)

  • Kim, Jong-Woo;Kim, Myeong-Kyun
    • Tunnel and Underground Space
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    • v.22 no.3
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    • pp.205-213
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    • 2012
  • In this study, scaled model tests were performed to investigate the stability of twin tunnels constructed in anisotropic rocks with $30^{\circ}$ inclined bedding planes under the condition of lateral pressure ratio, 2. Five types of test models which had respectively different pillar widths and shapes of tunnel sections were experimented, where both crack initiating pressures and deformation behaviors around tunnels were investigated. The models with shallower pillar width showed shear failure of pillar according to the existing bedding planes and they were cracked under lower pressure than the models with thicker pillar width. In order to find the effect of tunnel sectional shape on stability, the models with four centered arch section, circular section and semi-circular arch section were experimented. As results of the comparison of the crack initiating pressures and the deformation behaviors around tunnels, the semi-circular arched tunnel model was the most unstable whereas the circular tunnel model was the most stable among them. Furthermore, the results of FLAC analysis were qualitatively coincident with the experimental results.