• Title/Summary/Keyword: Oldest-Old Age

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Late-onset drug resistant epilepsy in an adolescent with Allan-Herndon-Dudley syndrome

  • Soyoung Park;Young-Lim Shin;Go Hun Seo;Yong Hee Hong
    • Journal of Genetic Medicine
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    • v.21 no.1
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    • pp.31-35
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    • 2024
  • Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

Geochemical Significance of $^{14}C$ Age from the Dongrae Hot Spring Water (동래온천수의 $^{14}C$ 연대의 지구과학적 의의)

  • Lee, Seung-Gu;Nakamura, Toshio;Kim, Tong-Kwon;Ohta, Tomoko;Kim, Hyoung-Chan;Lee, Tae-Jong
    • Economic and Environmental Geology
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    • v.42 no.6
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    • pp.541-548
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    • 2009
  • The Dongrae thermal water area located at the southeastern marginal part of the Korean Peninsula is one of the oldest hot springs in Korea. The Dongrae thermal water shows Na-Cl type of water chemistry, whereas the shallow cold groundwater is Ca(-Na)-$HCO_3$ type. In this paper, we discuss the age of the Dongrae hot spring, i.e. groundwater cycle among meteoric water-surface water-shallow groundwater-hot spring water. The $^{87}Sr/^{86}Sr$ ratios of the thermal water in Dongrae area range from 0.705663 to 0.705688 and are lower than those of groundwater, surface water and rain water as well as aquifer bearing granite. These Sr isotopic signatures in the Dongrae thermal water indicate that the circulation rate between thermal water and current meteoric water including groundwater, surface water and rain water in the Dongrae area should be very slow. The $^{14}C$ age of the Dongrae hot spring water range from $1,271{\pm}36$ BP(before present) to $2,467{\pm}36$ BP whereas that of the shallow groundwater is $-495{\pm}33$ BP. This suggests that the period of groundwater cycle among meteoric water, surface water, shallow groundwater and hot spring should be more than 1,270 years. Then, it also indicates that the present Dongrae hot spring may be a mixed water between the old thermal water heated for at least 1,270 years and the present shallow cold groundwater.

Age and Growth of Epinephelus akaara in the South Western Sea of Korea (한반도 서남 연안 붉바리(Epinephelus akaara)의 연령과 성장)

  • Lee, Tae-Won;Lee, Chang-Gyu
    • Korean Journal of Ichthyology
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    • v.8 no.2
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    • pp.16-22
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    • 1996
  • Age and growth of Epinephelus akaara were determined using samples collected from the south western sea of Korea. Thin - sectioned otoliths showed relatively well defined annuli when examined under dark - field microscope. Because the fish do not feed at the temperature under $10^{\circ}C$, the annuli in otoliths are considered to be formed during the period between December and April. Considering that the peak spawning season is July, the first annulus must have been formed in 0.5 year after birth. The oldest fish examined was 9 years old, and the largest one was 47cm. The body length(L, cm) was linearly related to the otolith radius (R, ${\mu}m$) : L= - 2.84+7.01 R. Back-calculated lengths for each age using the relationship between body and otolith size were well adjusted to the Von Bertalanffy growth curve : $L_t$=55.5[1-exp{-0.162(t+0.128)}]. Using relationship between length and weight ($W_t$=0.00608$L^{3.21}$), growth in weight was expressed by Wt=2409(1-exp{-0.162(t+0.128)}]$^{3.21}$.

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Needle Life Span, Photosynthetic Pigment and Nitrogen Allocation of Picea jezoensis in Korea (우리나라 가문비나무의 침엽 수명, 광색소 및 질소 배분 특성)

  • Han, Sim-Hee;Kim, Du-Hyun;Kim, Gil Nam;Yun, Chung-Weon
    • Journal of Korean Society of Forest Science
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    • v.101 no.1
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    • pp.62-68
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    • 2012
  • We have investigated needle life span, photosynthetic pigment and nitrogen allocation pattern in the needle of Picea jezoensis in the three populations (Gyebangsan, Deogyusan and Jirisan) to find out growth environmental condition which needs the strategy development of conservation and restoration against population decline. Needle survival rate was the highest in Gyebangsan (87.0%) and the lowest in Jirisan (71.6%), and it decreased with the increase of needle age. Needle chlorophyll a and b in Deogyusan and Jirisan showed higher content in older needle, but chlorophyll content in Gyebangsan was the highest in 2-year-old needle. Carotenoid content was the highest in the needle in Gyebangsan, and it increased along with needle age. Chlorophyll a/b ratio showed the highest value in Jirisan and the lowest value in Gyebangsan. Chlorophyll/carotenoid ratio decreased with needle age, Needle nitrogen content was the highest in Deogyusan (1.51%) and the lowest in Gyebangsan (1.40%), and the older needle had the lower content. In contrast, the highest chlorophyll/nitrogen ratio represented the oldest needle.

Paleomagnetism, Stratigraphy and Geologic Structure of the Tertiary Pohang and Changgi Basins; K-Ar Ages for the Volcanic Rocks (포항(浦項) 및 장기분지(盆地)에 대한 고지자기(古地磁氣), 층서(層序) 및 구조연구(構造硏究); 화산암류(火山岩類)의 K-Ar 연대(年代))

  • Lee, Hyun Koo;Moon, Hi-Soo;Min, Kyung Duck;Kim, In-Soo;Yun, Hyesu;Itaya, Tetsumaru
    • Economic and Environmental Geology
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    • v.25 no.3
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    • pp.337-349
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    • 1992
  • The Tertiary basins in Korea have widely been studied by numerous researchers producing individual results in sedimentology, paleontology, stratigraphy, volcanic petrology and structural geology, but interdisciplinary studies, inter-basin analysis and basin-forming process have not been carried out yet. Major work of this study is to elucidate evidences obtained from different parts of a basin as well as different Tertiary basins (Pohang, Changgi, Eoil, Haseo and Ulsan basins) in order to build up the correlation between the basins, and an overall picture of the basin architecture and evolution in Korea. According to the paleontologic evidences the geologic age of the Pohang marine basin is dated to be late Lower Miocence to Middle Miocene, whereas other non-marine basins are older as being either Early Miocene or Oligocene(Lee, 1975, 1978: Bong, 1984: Chun, 1982: Choi et al., 1984: Yun et al., 1990: Yoon, 1982). However, detailed ages of the Tertiary sediments, and their correlations in a basin and between basins are still controversial, since the basins are separated from each other, sedimentary sequence is disturbed and intruded by voncanic rocks, and non-marine sediments are not fossiliferous to be correlated. Therefore, in this work radiometric, magnetostratigraphic, and biostratigraphic data was integrated for the refinement of chronostratigraphy and synopsis of stratigraphy of Tertiary basins of Korea. A total of 21 samples including 10 basaltic, 2 porphyritic, and 9 andesitic rocks from 4 basins were collected for the K-Ar dating of whole rock method. The obtained age can be grouped as follows: $14.8{\pm}0.4{\sim}15.2{\pm}0.4Ma$, $19.9{\pm}0.5{\sim}22.1{\pm}0.7Ma$, $18.0{\pm}1.1{\sim}20.4+0.5Ma$, and $14.6{\pm}0.7{\sim}21.1{\pm}0.5Ma$. Stratigraphically they mostly fall into the range of Lower Miocene to Mid Miocene. The oldest volcanic rock recorded is a basalt (911213-6) with the age of $22.05{\pm}0.67Ma$ near Sangjeong-ri in the Changgi (or Janggi) basin and presumed to be formed in the Early Miocene, when Changgi Conglomerate began to deposit. The youngest one (911214-9) is a basalt of $14.64{\pm}0.66Ma$ in the Haseo basin. This means the intrusive and extrusive rocks are not a product of sudden voncanic activity of short duration as previously accepted but of successive processes lasting relatively long period of 8 or 9 Ma. The radiometric age of the volcanic rocks is not randomly distributed but varies systematically with basins and localities. It becomes generlly younger to the south, namely from the Changgi basin to the Haseo basin. The rocks in the Changgi basin are dated to be from $19.92{\pm}0.47$ to $22.05{\pm}0.67Ma$. With exception of only one locality in the Geumgwangdong they all formed before 20 Ma B.P. The Eoil basalt by Tateiwa in the Eoil basin are dated to be from $20.44{\pm}0.47$ to $18.35{\pm}0.62Ma$ and they are younger than those in the Changgi basin by 2~4 Ma. Specifically, basaltic rocks in the sedimentary and voncanic sequences of the Eoil basin can be well compared to the sequence of associated sedimentary rocks. Generally they become younger to the stratigraphically upper part. Among the basin, the Haseo basin is characterized by the youngest volcanic rocks. The basalt (911214-7) which crops out in Jeongja-ri, Gangdong-myon, Ulsan-gun is $16.22{\pm}0.75Ma$ and the other one (911214-9) in coastal area, Jujon-dong, Ulsan is $14.64{\pm}0.66Ma$ old. The radiometric data are positively collaborated with the results of paleomagnetic study, pull-apart basin model and East Sea spreading theory. Especially, the successively changing age of Eoil basalts are in accordance with successively changing degree of rotation. In detail, following results are discussed. Firstly, the porphyritic rocks previously known as Cretaceous basement (911213-2, 911214-1) show the age of $43.73{\pm}1.05$$49.58{\pm}1.13Ma$(Eocene) confirms the results of Jin et al. (1988). This means sequential volcanic activity from Cretaceous up to Lower Tertiary. Secondly, intrusive andesitic rocks in the Pohang basin, which are dated to be $21.8{\pm}2.8Ma$ (Jin et al., 1988) are found out to be 15 Ma old in coincindence with the age of host strata of 16.5 Ma. Thirdly, The Quaternary basalt (911213-5 and 911213-6) of Tateiwa(1924) is not homogeneous regarding formation age and petrological characteristics. The basalt in the Changgi basin show the age of $19.92{\pm}0.47$ and $22.05{\pm}0.67$ (Miocene). The basalt (911213-8) in Sangjond-ri, which intruded Nultaeri Trachytic Tuff is dated to be $20.55{\pm}0.50Ma$, which means Changgi Group is older than this age. The Yeonil Basalt, which Tateiwa described as Quaternary one shows different age ranging from Lower Miocene to Upper Miocene(cf. Jin et al., 1988: sample no. 93-33: $10.20{\pm}0.30Ma$). Therefore, the Yeonil Quarterary basalt should be revised and divided into different geologic epochs. Fourthly, Yeonil basalt of Tateiwa (1926) in the Eoil basin is correlated to the Yeonil basalt in the Changgi basin. Yoon (1989) intergrated both basalts as Eoil basaltic andesitic volcanic rocks or Eoil basalt (Yoon et al., 1991), and placed uppermost unit of the Changgi Group. As mentioned above the so-called Quarternary basalt in the Eoil basin are not extruded or intruaed simultaneously, but differentiatedly (14 Ma~25 Ma) so that they can not be classified as one unit. Fifthly, the Yongdong-ri formation of the Pomgogri Group is intruded by the Eoil basalt (911214-3) of 18.35~0.62 Ma age. Therefore, the deposition of the Pomgogri Group is completed before this age. Referring petrological characteristics, occurences, paleomagnetic data, and relationship to other Eoil basalts, it is most provable that this basalt is younger than two others. That means the Pomgogri Group is underlain by the Changgi Group. Sixthly, mineral composition of the basalts and andesitic rocks from the 4 basins show different ground mass and phenocryst. In volcanic rocks in the Pohang basin, phenocrysts are pyroxene and a small amount of biotite. Those of the Changgi basin is predominant by Labradorite, in the Eoil by bytownite-anorthite and a small amount pyroxene.

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Fine-scale Spatial Genetic Structure of a Small Natural Stand of Populus davidiana in South Korea using AFLP markers (AFLP 마커를 이용한 소규모 사시나무림의 공간적 유전구조 구명)

  • Lee, Min Woo;Hong, Kyung Nak;Park, Yu Jin;Lee, Jei Wan;Lim, Hyo In
    • Journal of Korean Society of Forest Science
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    • v.105 no.3
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    • pp.309-314
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    • 2016
  • A locally adapted plant population under harsh environmental changes might survive for a long generation through maintaining proper level of genetic diversity. When it happens losing the genetic diversity too much fast, the population could be declining and probably become extinct. An isolated small population of Populus davidiana was investigated to study out the genetic diversity and the fine-scale spatial genetic structure. The estimated number of adult trees in the population of Mt. Worak, South Korea, was 350 in the total area of $14,000m^2$. The number of adults in a study plot ($70m{\times}70m$) was 123. The average age was 16-year-old and a 32-year-old tree was the oldest. The distribution of individuals was slightly aggregated in the plot. Sixty-one among the 123 individuals were randomly sampled to estimate genetic variation using AFLP markers. One hundred fifty-one (77%) of total 196 amplicons were polymorphic from six AFLP primer combinations. The average number of loci per primer combination was 32.7 (S.D.=7.2). Expected heterozygosity ($H_e$) and Shannon's diversity index (S.I.) were 0.154 and 0.254, respectively. These values were extremely lower than those of other P. davidiana populations in South Korea. Genetic patchiness was showed within 21 meters by spatial autocorrelation analysis and the isolated small size of population might be mainly attributed to the formation of such small patch size.

A retrospective clinical study of isolated patent ductus arteriosus (동맥관 개존증의 임상적 고찰)

  • 곽영태
    • Journal of Chest Surgery
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    • v.17 no.4
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    • pp.593-606
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    • 1984
  • With the ligation of patent ductus arteriosus by Gross in 1938, surgeons first entered the field of congenital heart disease. Interruption of a ductus is one of the most satisfactory and curative operations in the field of surgery for congenital heart disease. 27 cases of isolated patent ductus arteriosus were operated from Jan. 1978 to July 1984 at the Department of Thoracic & Cardiovascular Surgery in Kyung-Hee University Hospital. Retrospective clinical analysis of these patients were: 1. Sex ratio, female: male, was 2:1. 2. Mean age at operation was 9.85\ulcorner.58 years. The youngest patient was a 23 month-old girl and the oldest one was a 24 year-old male. 3. More than half of the patients had less than 50 percentile of growth retardation. 4. Chief complaints of the patients were frequent URI [52%], dyspnea on exertion [33%], generalized weakness [22%], palpitation [7%], but 7 patients [26%] had no subjective symptoms. 5. Continuous machinery murmur could be heard at the 2nd or 3rd intercostal space on the left sternal border in 22 patients [81%]. The other S patients made systolic murmur with accentuation of the second heart sound and those were associated with pulmonary hypertension. 6. Radiologic findings of Chest P-A were cardiac enlargement in 15 patients [55%], enlargement of pulmonary conus and/or increasing density of pulmonary vascularity in 20 patients [74%]. 7. Electrocardiographic findings of the patients were within normal limit in 13 patients [48%], LVH in 4 patients [15%], biventricular hypertrophy in 3 patients [11%]. 8; echocardiogram was obtained from 11 patients. Ductus was directly visualized in 7 patients. Left atrial enlargement is the secondary change of left to right shunt, 10 patients had LA/Ao ratio more than 1.2. 9. Cardiac catheterization performed in 25 patients. The mean value of the results were:SO2[PA-RV]= 14.72\ulcorner6.01%, Qp/Qs=2.22\ulcorner.80, peak systolic pulmonary arterial pressure=48.28\ulcorner1.60 mmHg. 10. 26 patients were operated through the left posterolateral thoracotomy: closure of ductus by double ligation in 14 cases, triple ligation in 5 cases, and division with suture in 8 cases. One patient suffer from aneurysmal rupture of main pulmonary artery, endocarditis, hemopericardium was treated with cardiopulmonary bypass via median sternotomy and closure of ductus through the ruptured main pulmonary artery. 11.There was no death associated with the operation, but 3 cases were experienced with intraoperative rupture around the ductus resulting in massive bleeding. The other complications were transient hoarseness in one patient, atelectasis in left lower lobe in 3 patients, and postoperative systemic hypertension in 4 patients with unknown etiology. 12. Pulse pressure was reduced, 11.47+5.92 mmHg, postoperatively, as compare to preoperative status. 13. Intraoperative wedge lung biopsy from lingular segment for the evaluation of the pulmonary vascular disease was taken in S patients with severe pulmonary hypertension. The result was Heath-Edward grade I in one case, grade II in two cases, and grade III in two cases.

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Precambrian Crustal Evolution of the Korean Peninsula (한반도 선캠브리아 지각진화사)

  • Lee, Seung-Ryeol;Cho, Kyung-O
    • The Journal of the Petrological Society of Korea
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    • v.21 no.2
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    • pp.89-112
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    • 2012
  • The Korean Peninsula consists of three Precambrian blocks: Nangrim, Gyeonggi and Yeongnam massifs. Here we revisited previous stratigraphic relationships, largely based on new geochronologic data, and investigated the crustal evolution history of the Precambrian massifs. The Precambrian strata have been usually divided into lower crystalline basements and upper supracrustal rocks. The former has been considered as Archean or Paleoproterozoic in age, whereas the latter as Paleoproterozoic or later. However, both are revealed as the Paleoproterozoic (2.3-1.8 Ga) strata as a whole, and Archean strata are very limited in the Korean Peninsula. These make the previous stratigraphic system wrong and require reconsideration. The oldest age of the basement rocks can be dated as old as Paleoarchean, suggested by the occurrence of ~3.6 Ga inherited zircon. However, most of crust-forming materials were extracted from mantle around ~2.7 Ga, and produced major portions of crust materials at ~2.5 Ga, which make each massif a discrete continental mass. After that, all the massifs belonged to continental margin orogen during the Paleoproterozoic time, and experienced repeated intracrustal differentiation. After the final cratonization occurring at ~1.9-1.8 Ga, they were stabilized as continental platforms. The Nangrim and Gyeonggi massif included local sedimentary deposition as well as igneous activity during Meso-to Neoproterozoic, but the Yeongnam massif remained stable before the development of Paleozoic basin.

Diversity and origin of bottle gourd, Lagenaria

  • Yuasa, Hiroshi
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2002.11a
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    • pp.96-97
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    • 2002
  • Bottle gourd, Lagenaria siceraria, is one of the oldest cultivated plants. To bigin with, its fruit was used as a complete liquid bottle or container. It was a very widespread cultivated plant in prehistoric times, for example (there) is a report from Peru as early as between 13,000 B.C and 11,000 B.C. The dug-out finds in Japan proved to be about 95,000 years old according to the /sup 14/C analysis. The bottle grourd was the most important plant before the invention of pottery in many areas of Asia, New Guinea, Polynesia, America, and Africa. I would like to suggest that there should be "The Bottle Gourd Age" prior to the Pottery Age. Bottle gourds are also used for various purposes such as food, masks, pipes, musical instruments, medicine, symbols, artistic products and also as penis-sheaths of men's attire. Their purposes number more than 220 including 70 varienties of containers or bottles. I consider that its utilization should be called a culture, as it were, "The gourd culture." The shape and the size of the fruit of bottle gourd have a larger variety than those of any other plant. As for the size, it is reported that they range from those that are shorter than 3cm to those that are ovoid and longer than 60cm in diameter. With regard to the shape of its fruit, the bottle gourd can be classified into 7 groups and even more than 30 races, considering the difference of the size. The seeds are so variable without two horn-like projections, with smooth surface or longitudinalines, white or brown, with smooth corky margin. Generally, it seems that there is no correlation between seem shape and fruit shape. My study shows that the seeds of gourd. My study shows that the seeds of gourd in Asia are so simple in shape and in color except for the size. But the seeds of those in Africa are various and seem to be beyond the confines. Explaining the great diversity of the seeds of those in Africa therefore, they appear to have no correlation among the types of fruit of the bottle gourd with African origin. It might be supposed that another 4 wild Lagenaria spp. distribute only in Africa. The intraspecies hybrid is confirmed between the bottle gourd, Lagenaria siceraria, and wild L. spehaerica. And Fl hybrid is sterile: it has no fertility. However, even though the shapes of the fruit and the seeds are different, they can cross with each other. Moreover, their hybrids grow up to be extremely vigorous and have normal fertility. Fruit shapes of Fl plants are similar to those of their parents, if they have the same character. Whereas, the fruit shape often became different from each other when the cross occurs between those with different fruit shapes. It is shown that dumbbell shapes, HYOTAN in Japanese, is recessive while its bitterness is dominant. Thus the character of F2 hybrids Is segregative. I'll give further particulars of the heredity of the groud in my lecture.

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Tree Growth and Ecosystem Conditions of Docheon Forest (Natural Monument No. 514) in Docheon-ri, Yeongdeok - Focusing on Plant Ecosystems - (천연기념물 제514호 영덕 도천리 도천숲의 생태계 현황 및 수목 생육 특성 - 식물생태계 현황을 중심으로 -)

  • Kim, Dong Wook;Hur, Bog Su;Lee, Seung Joo;Kim, Hyo Jeong
    • Korean Journal of Heritage: History & Science
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    • v.44 no.1
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    • pp.122-137
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    • 2011
  • The purpose of this study was to present the characteristics of tree growth and the status of the ecosystem in Yeongdeok Docheon-ri Docheon forest, which was designated as Natural Monument No. 514. Results showed that most of the soil properties were generally within desirable levels except for some properties. The forest was composed of 503 trees. Major trees included Zelkova serrata, Celtis sinensis, Cornus walteri, Diospyros lotus, Hemiptelea davidii, and Evodia daniellii. In particular, trees such as Zelkova serrata, Celtis sinensis, and Cornus walteri showed D.B.H ranging from 10cm to 70cm. These trees appeared to be major tree species since the beginning of Docheon forest's existence. The wild birds observed from the site were from 18 families, 20 species, and 95 individuals. Also were found 1 mammal species, 1 reptile species, and 1 amphibian species. A dead Aix galericulata (designated Natural Monument No. 327) was found in the forest. The annual tree diameter growth of the sample trees was 2.3mm per year on average. The average age of the overstory trees was approximately 101 years, and the oldest tree was estimated to be 300~400 years old.