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Identification of Compound Heterozygous Alleles in a Patient with Autosomal Recessive Limb-Girdle Muscular Dystrophy (상염색체 열성 지대형 근이영양증 환자로부터 TTN 유전자의 복합 이형접합성 대립유전자의 분리)

  • Choi, Hee Ji;Lee, Soo Bin;Kwon, Hye Mi;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
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    • v.31 no.10
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    • pp.913-921
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    • 2021
  • Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

Effect of Lead Content on Atomic Structures of Pb-bearing Sodium Silicate Glasses: A View from 29Si NMR Spectroscopy (납 함량에 따른 비정질 Pb-Na 규산염의 원자 구조에 대한 고상 핵자기 공명 분광분석 연구)

  • Lee, Seoyoung;Lee, Sung Keun
    • Korean Journal of Mineralogy and Petrology
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    • v.34 no.3
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    • pp.157-167
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    • 2021
  • Lead (Pb) is one of the key trace elements, exhibiting a peculiar partitioning behavior into silicate melts in contact with minerals. Partitioning behaviors of Pb between silicate mineral and melt have been known to depend on melt composition and thus, the atomic structures of corresponding silicate liquids. Despite the importance, detailed structural studies of Pb-bearing silicate melts are still lacking due to experimental difficulties. Here, we explored the effect of lead content on the atomic structures, particularly the evolution of silicate networks in Pb-bearing sodium metasilicate ([(PbO)x(Na2O)1-x]·SiO2) glasses as a model system for trace metal bearing natural silicate melts, using 29Si solid-state nuclear magnetic resonance (NMR) spectroscopy. As the PbO content increases, the 29Si peak widths increase, and the maximum peak positions shift from -76.2, -77.8, -80.3, -81.5, -84.6, to -87.7 ppm with increasing PbO contents of 0, 0.25, 0.5, 0.67, 0.86, and 1, respectively. The 29Si MAS NMR spectra for the glasses were simulated with Gaussian functions for Qn species (SiO4 tetrahedra with n BOs) for providing quantitative resolution. The simulation results reveal the evolution of each Qn species with varying PbO content. Na-endmember Na2SiO3 glass consists of predominant Q2 species together with equal proportions of Q1 and Q3. As Pb replaces Na, the fraction of Q2 species tends to decrease, while those for Q1 and Q3 species increase indicating an increase in disproportionation among Qn species. Simulation results on the 29Si NMR spectrum showed increases in structural disorder and chemical disorder as evidenced by an increase in disproportionation factor with an increase in average cation field strengths of the network modifying cations. Changes in the topological and configurational disorder of the model silicate melt by Pb imply an intrinsic origin of macroscopic properties such as element partitioning behavior.

Floristic Characteristics of Vascular Plants in the Maryong-san(Mt. 406.7m) and Daeso-san(Mt. 286m) Area (마룡산(406.7m, 울진군)과 대소산(286m, 영덕군) 일원의 관속식물)

  • Kim, Young-Chul;Chae, Hyun-Hee;Park, You-Cheol;Lee, Seon-Mi;Nam, Gi-Heum
    • Korean Journal of Environment and Ecology
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    • v.35 no.5
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    • pp.438-479
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    • 2021
  • Basic information such as flora and their distribution are the key factors to consider for preserving plant diversity on a regional level. The number of plant species identified through a survey is closely related to the survey area and the number of habitats distributed within the survey area. In this study, we surveyed the flora of Mt. Maryong-san (PH) and Mt. Daeso-san (YH) located in Uljin-gun, Gyeongsangbuk-do, six and nine times, respectively. We planned to include a variety of habitats in the survey routes. As a result, we identified a total of 594 taxa composing of 112 families, 349 genera, 548 species, 10 subspecies, 34 varieties, and 2 formulas in the Mt. Maryong-san (PH) area and a total of 434 taxa composing of 89 families, 270 genera, 400 species, 9 subspecies, and 25 varieties in the Mt. Daeso-san (YH) area. Of the plants observed in the 21 habitats, the plants distributed in the transition zone around the valley and the dry grassland accounted for the highest proportion. The traditional graveyards located on the coast also served as the major habitat for the distribution of some plant species. In the two graveyards, 19 taxa of endemic plant species were surveyed. Moreover, the identified floristic target species included 1 taxon for grade V, 11 taxa for grade IV, and 24 taxa for grade III. A total of 77 taxa of naturalized plants were identified, and four of them were invasive alien plants as designated by the Ministry of Environment. The differences in the plants distributed in the area of Mt. Maryong-san (PH) and Mt. Daeso-san (YH) were mainly due to the difference in the size of each habitat distributed within the survey area. Moreover, it was judged that the entire vicinity of Mt. Daeso-san (YH) was not connected to the surrounding mountains and was an isolated area surrounded by farmland and residential areas.

Derivation of Green Infrastructure Planning Factors for Reducing Particulate Matter - Using Text Mining - (미세먼지 저감을 위한 그린인프라 계획요소 도출 - 텍스트 마이닝을 활용하여 -)

  • Seok, Youngsun;Song, Kihwan;Han, Hyojoo;Lee, Junga
    • Journal of the Korean Institute of Landscape Architecture
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    • v.49 no.5
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    • pp.79-96
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    • 2021
  • Green infrastructure planning represents landscape planning measures to reduce particulate matter. This study aimed to derive factors that may be used in planning green infrastructure for particulate matter reduction using text mining techniques. A range of analyses were carried out by focusing on keywords such as 'particulate matter reduction plan' and 'green infrastructure planning elements'. The analyses included Term Frequency-Inverse Document Frequency (TF-IDF) analysis, centrality analysis, related word analysis, and topic modeling analysis. These analyses were carried out via text mining by collecting information on previous related research, policy reports, and laws. Initially, TF-IDF analysis results were used to classify major keywords relating to particulate matter and green infrastructure into three groups: (1) environmental issues (e.g., particulate matter, environment, carbon, and atmosphere), target spaces (e.g., urban, park, and local green space), and application methods (e.g., analysis, planning, evaluation, development, ecological aspect, policy management, technology, and resilience). Second, the centrality analysis results were found to be similar to those of TF-IDF; it was confirmed that the central connectors to the major keywords were 'Green New Deal' and 'Vacant land'. The results from the analysis of related words verified that planning green infrastructure for particulate matter reduction required planning forests and ventilation corridors. Additionally, moisture must be considered for microclimate control. It was also confirmed that utilizing vacant space, establishing mixed forests, introducing particulate matter reduction technology, and understanding the system may be important for the effective planning of green infrastructure. Topic analysis was used to classify the planning elements of green infrastructure based on ecological, technological, and social functions. The planning elements of ecological function were classified into morphological (e.g., urban forest, green space, wall greening) and functional aspects (e.g., climate control, carbon storage and absorption, provision of habitats, and biodiversity for wildlife). The planning elements of technical function were classified into various themes, including the disaster prevention functions of green infrastructure, buffer effects, stormwater management, water purification, and energy reduction. The planning elements of the social function were classified into themes such as community function, improving the health of users, and scenery improvement. These results suggest that green infrastructure planning for particulate matter reduction requires approaches related to key concepts, such as resilience and sustainability. In particular, there is a need to apply green infrastructure planning elements in order to reduce exposure to particulate matter.

Analysis of the Landscape Characteristics of Island Tourist Site Using Big Data - Based on Bakji and Banwol-do, Shinan-gun - (빅데이터를 활용한 섬 관광지의 경관 특성 분석 - 신안군 박지·반월도를 대상으로 -)

  • Do, Jee-Yoon;Suh, Joo-Hwan
    • Journal of the Korean Institute of Landscape Architecture
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    • v.49 no.2
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    • pp.61-73
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    • 2021
  • This study aimed to identify the landscape perception and landscape characteristics of users by utilizing SNS data generated by their experiences. Therefore, how to recognize the main places and scenery appearing on the island, and what are the characteristics of the main scenery were analyzed using online text data and photo data. Text data are text mining and network structural analysis, while photographic data are landscape identification models and color analysis. As a result of the study, First, as a result of frequency analysis of Bakji·Banwol-do topics, we were able to derive keywords for local landscapes such as 'Purple Bridge', 'Doori Village', and location, behavior, and landscape images by analyzing them simultaneously. Second, the network structure analysis showed that the connection between key and undrawn keywords could be more specifically analyzed, indicating that creating landscapes using colors is affecting regional activation. Third, after analyzing the landscape identification model, it was found that artificial elements would be excluded to create preferred landscapes using the main targets of "Purple Bridge" and "Doori Village", and that it would be effective to set a view point of the sea and sky. Fourth, Bakji·Banwol-do were the first islands to be created under the theme of color, and the colors used in artificial facilities were similar to the surrounding environment, and were harmonized with contrasting lighting and saturation values. This study used online data uploaded directly by visitors in the landscape field to identify users' perceptions and objects of the landscape. Furthermore, the use of both text and photographic data to identify landscape recognition and characteristics is significant in that they can specifically identify which landscape and resources they prefer and perceive. In addition, the use of quantitative big data analysis and qualitative landscape identification models in identifying visitors' perceptions of local landscapes will help them understand the landscape more specifically through discussions based on results.

Effect of 17β-estradiol on Ecdysteroid Pathway Related Genes in the Brackish Water Flea Diaphanosoma celebensis (17β-estradiol이 기수산 물벼룩의 Ecdysteroid 경로에 미치는 영향)

  • In, Soyeon;Yoo, Jewon;Cho, Hayoung;Lee, Young-Mi
    • Journal of Marine Life Science
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    • v.5 no.2
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    • pp.35-42
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    • 2020
  • 17β-estradiol (E2) is a natural hormone secreted by ovary, and continuously discharged from household and livestock wastewater into aquatic environment. Due to its strong estrogenic activity, it has adverse effects on development and reproduction in crustacean as an endocrine disrupting chemical. Although ecdysteroid signaling pathway play a key role in development in crustacean, little information on transcriptional modulation of ecdysteroid-related genes in response to E2 is available in small crustacean. Here, we investigated the acute toxicity of E2 to obtain 24-h LCx values in the brackish water flea Diaphanosoma celebensis. Time-dependent expression patterns of seven ecdysteroid pathway - related genes (CYP314a1, EcRA, EcRB, USP, ERR, Vtg, VtgR) were further examined using quantitative real time reverse transcriptase polymerase chain reaction (qRT-PCR). As results, 24-h LC50 and LC10 values were 9.581 mg/l and 4.842 mg/l, respectively. The mRNA expression of CYP314a1, EcRA, USP, VtgR was significantly up-regulated at 12 or 24 h after exposure to E2. These findings indicate that E2 can affect their molting and reproduction by modulating the expression of ecdysteroid pathway - related in D. celebensis. This study will be useful for better understanding of molecular mode of action of endocrine disrupting chemicals on molting process in small crustacean.

Effects of Temperature and Saturation on the Crystal Morphology of Aragonite (CaCO3) and the Distribution Coefficient of Strontium: Study on the Properties of Strontium Incorporation into Aragonite with respect to the Crystal Growth Rate (온도와 포화도가 아라고나이트(CaCO3)의 결정형상과 스트론튬(Sr)의 분배계수에 미치는 영향: 결정성장속도에 따른 아라고나이트 내 스트론튬 병합 특성 고찰)

  • Lee, Seon Yong;Chang, Bongsu;Kang, Sue A;Seo, Jieun;Lee, Young Jae
    • Korean Journal of Mineralogy and Petrology
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    • v.34 no.2
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    • pp.133-146
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    • 2021
  • Aragonite is one of common polymorphs of calcium carbonate (CaCO3) and formed via biological or physical processes through precipitation in many different environments including marine ecosystems. It is noted that aragonite formation and growth as well as the substitution of trace elements such as strontium (Sr) in the aragonite structure would be dependant on several key parameters such as concentrations of chemical species and temperature. In this study, properties of the incorporation of Sr into aragonite were investigated over a wide range of various saturation conditions and temperatures similar to the marine ecosystem. All pure aragonite samples were inorganically synthesized through a constant-addition method with varying concentrations of the reactive species ([Ca]=[CO3] 0.01-1 M), injection rates of the reaction solution (0.085-17 mL/min), and solution temperatures (5-40 ℃). Pure aragonite was also formed even under the Sr incorporation conditions (0.02-0.5 M, 15-40 ℃). When temperature and saturation index (SI) with respect to aragonite increased, the crystallinity and the crystal size of aragonite increased indicating the growth of aragonite crystal. However, it was difficult to interpret the crystal growth rate because the crystal growth rate calculated using BET-specific surface area was significantly influenced by the crystal morphology. The distribution coefficient of Sr (KSr) into aragonite decreased from 2.37 to 1.57 with increasing concentrations of species (Ca2+ and CO32-) at a range of 0.02-0.5 M. Similarly, it was also found that KSr decreased 1.90 to 1.54 at a range of 15-40 ℃. All KSr values are greater than 1, and the inverse correlation between the KSr and the crystal growth rate indicate that Sr incorporation into aragonite is in a compatible relationship.

Geo-educational Values of the Jebudo Geosite in the Hwaseong Geopark, Korea (화성 지질공원 제부도 지질명소의 지질교육적 가치)

  • Ha, Sujin;Chae, Yong-Un;Kang, Hee-Cheol;Kim, Jong-Sun;Park, Jeong-Woong;Shin, Seungwon;Lim, Hyoun Soo;Cho, Hyeongseong
    • Journal of the Korean earth science society
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    • v.42 no.3
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    • pp.311-324
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    • 2021
  • Recently, ten geosites have been considered in Hwaseong for endorsement as national geoparks, including the Jebudo, Gojeongri Dinosaur Egg Fossils, and Ueumdo geosites. The Jebudo geosite in the southern part of the Seoul metropolitan area has great potential for development as a new geoscience educational site because it has geological, geographical (landscape), and ecological significance. In this study, we described the geological characteristics through field surveys in the Jebudo geosite. We evaluated its potential as a geo-education site based on comparative analysis with other geosites in Hwaseong Geopark. In addition, we reviewed the practical effect of field education at geosites on the essential concepts and critical competence-oriented education emphasized in the current 2015 revised science curriculum. The Jebudo Geosite is geologically diverse, with various metamorphic rocks belonging to the Precambrian Seosan Group, such as quartzite, schist, and phyllite. Various geological structures, such as clastic dikes, faults, joints, foliation, and schistosity have also been recorded. Moreover, coastal geological features have been observed, including depositional landforms (gravel and sand beaches, dunes, and mudflats), sedimentary structures (ripples), erosional landforms (sea cliffs, sea caves, and sea stacks), and sea parting. The Jebudo geosite has considerable value as a new geo-education site with geological and geomorphological distinction from the Gojeongri Dinosaur Egg Fossils and Ueumdo geosites. The Jebudo geosite also has opportunities for geo-education and geo-tourism, such as mudflat experiences and infrastructures, such as coastal trails and viewing points. This geosite can help develop diverse geo-education programs that improve key competencies in the science curriculum, such as critical thinking, inquiry, and problem-solving. Furthermore, by conducting optimized geo-education focused on the characteristics of each geosite, the following can be established: (1) the expansion of learning space from school to geopark, (2) the improvement of understanding of specific content elements and linkage between essential concepts, and (3) the extension of the education scope throughout the earth system. There will be positive impacts on communication, participation, and lifelong learning skills through geopark education.

Factors Associated with Conversion from Conservative to Surgical Treatment in Single-Level Lumbar Spinal Stenosis Patients (보존적 치료 중인 단분절 요추관 협착증 환자에서 수술적 치료로 전환과 관련된 연관 인자)

  • Ahn, Young-Joon;Im, Se-Hyuk;Park, Byung-Kyu
    • Journal of Korean Society of Spine Surgery
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    • v.25 no.4
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    • pp.160-168
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    • 2018
  • Study Design: Retrospective study of prospectively-collected data. Objectives: To determine the factors associated with conversion from conservative to surgical treatment in single-level lumbar spinal stenosis patients. Summary of Literature Review: Various reports have presented clinical outcomes after the surgical and nonsurgical treatment of spinal stenosis. However, few reports have investigated factors predicting conversion to surgery during the course of conservative treatment. Materials and Methods: We analyzed 40 patients who visited our hospital from May 2010 to May 2015 and were traceable for at least 3 years after being advised to undergo surgery following 3 months of conservative treatment. Of these patients, 20 underwent surgery and 20 did not. We then investigated the factors associated with conversion to surgical treatment. Clinical assessments were conducted using a questionnaire, and the overall area of the spinal canal and the muscle area within the spinal canal were measured using magnetic resonance imaging. Results: The average area of the spinal canal was $81.40{\pm}53.61mm^2$ in the surgical group, compared to $127.75{\pm}82.55mm^2$ in the nonsurgical group (p=0.042). The muscle area in the spinal canal was $5.17{\pm}1.30cm^2$ in the surgical group, whereas it was $6.40{\pm}1.56cm^2$ in the nonsurgical group (p=0.010). The patients in the surgical group were more likely to have experienced repetitive strain and to have frequently visited health clubs (p=0.047, p=0.037, respectively). However, regular stretching was more common in the nonsurgical group (p=0.028). Conclusions: The factors associated with conversion to surgical treatment were a narrow spinal canal, a small muscle area within the spinal canal, visiting health clubs, repetitive sprain, and not stretching. A small muscle area within the spinal canal can be considered as a key factor related to surgical conversion.

La pensée sérieuse sur la mort et le sens métaphysique sur la mort chez Kierkegaard (키르케고르: 죽음에 관한 진지한 사유와 죽음의 형이상학적 의미)

  • Lee, Myung-gon
    • Journal of Korean Philosophical Society
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    • v.131
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    • pp.303-330
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    • 2014
  • Les avis des philosophes sur la mort sont $diff{\acute{e}}rentes$ selon leurs visions du monde. Certains essaient de surmonter la peur sur la mort, en $n{\acute{e}}gligeant$ la mort, et certains essaient de vivre le vraie vie par la $m{\acute{e}}ditation$ de la mort. Chez Kierkegaard la notion de la mort se $pr{\acute{e}}sente$ comme key-world $tr{\grave{e}}s$ important, et cela signifie qu'il parle par la mort une vie $s{\acute{e}}rieuse$ et vraie. Pour Kierkegaard la mort signifie d'abord la mort de la vie mondaine ou la $n{\acute{e}}gation$ de soi, cela est en faveur de sa conception de la nature humaine $o{\grave{u}}$ l'homme est fondamentalement un ${\hat{e}}tre$ $probl{\grave{e}}matique$ et ${\grave{a}}$ la fois ceuli qui a un rapport avec $l^{\prime}{\acute{e}}ternel$. Le $d{\acute{e}}sespoir$ de l'homme sur la vie $pr{\acute{e}}sente$ peut devenir 'la maladie qui entraîne la mort' c'est-${\grave{a}}$-dire la mort spirituelle, mais il peut donner aussi une chemin par laquelle l'homme se dirige en tant qu'individu vers l'Absolu. Chez lui ${\hat{e}}tre$ $s{\acute{e}}rieux$ signifie devenir existentiellement par la $n{\acute{e}}gation$ de soi. Et l'absence de la $sinc{\acute{e}}rit{\acute{e}}$ signifie l'absence de soi en tnat $qu^{\prime}{\hat{e}}tre$ spirituel. Ainsi la $pens{\acute{e}}e$ $s{\acute{e}}rieuse$ sur la mort $n^{\prime}{\acute{e}}tant$ autre chose que de penser la mort comme la partie de $l^{\prime}{\hat{e}}tre$ $pr{\acute{e}}sent$, elle devient la source ${\acute{e}}nergique$ qui permet de vivre pleinement le $pr{\acute{e}}sent$ comme $r{\acute{e}}alit{\acute{e}}$ $li{\acute{e}}$ ${\acute{a}}$ $l^{\prime}{\acute{e}}ternit{\acute{e}}$. Sa $pens{\acute{e}}e$ $s{\acute{e}}rieuse$ sur la mort permet d'avoir une conviction religieuse par laquelle l'homme peut penser la mort corporelle comme aventure $li{\acute{e}}e$ ${\grave{a}}$ $l^{\prime}{\acute{e}}ternit{\acute{e}}$ et par laquelle l'homme peut penser aussi la vie $apr{\grave{e}}s$ la mort comme vraie vie que les justes avaient $d{\acute{e}}sir{\acute{e}}s$. Cette $pens{\acute{e}}e$ de Kierkegaard sur la mort signifie le sens $m{\acute{e}}taphysique$ sur la mort au sens $o{\grave{u}}$ elle est une $r{\acute{e}}alit{\acute{e}}$ $v{\acute{e}}cue$, et aussi la $pens{\acute{e}}e$ qui ${\acute{e}}claircit$ la sagesse des philosophes antiques ${\grave{a}}$ la perspective $chr{\acute{e}}tienne$ qui dit philosopher, c'est apprendre ${\grave{a}}$ mourir.