• Title/Summary/Keyword: Korean normal adults

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Aided Distance Visual Acuity and Refractive Error Changes by Using Smartphone (스마트폰 사용이 원거리 교정시력과 굴절 이상 변화에 미치는 영향)

  • Kim, Bong-Hwan;Han, Sun-Hee;Shin, Young Gul;Kim, Da Yeong;Park, Jin Young;Sin, Won Chul;Yoon, Jeong Ho
    • Journal of Korean Ophthalmic Optics Society
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    • v.17 no.3
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    • pp.305-309
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    • 2012
  • Purpose:This study was conducted to research any effect on aided distance visual acuity and refractive error changes by using smartphone at near for long term. Methods: 20($20.6{\pm}0.9$ years) young adults subjects with no ocular diseases, over 0.8 of aided distance visual acuity, normal amplitude of accommodation and normal accommodative facility agreed to participate in this study. The subjects were divided into two group, Group 1 (15 cm fixation distance) included 10 subjects and Group 2(40 cm fixation distance) included 10 subjects. Aided distance visual acuity and refractive error were measured before and after using smartphone for 30 minutes by auto-chart project (CP-1000, Dongyang, Korea), phoropter (VT-20, Dongyang, Korea), auto refractor-keratometer (MRK-3100, Huvitz, Korea). After then, the subjects looked at distance with wearing spectacles. Refractive error was measured at 5 minutes, 10 minutes, and 15 minutes later, respectively. Results: After using smartphone at 15 cm for 30 minutes, there was statistically significant reduction of aided distance visual acuity (p=0.030) and increasing myopia (p=0.001). The increased myopia was not statistically significant after 5 minutes rest (p${\geq}$0.464). However there was no statistically significant changes in aided distance visual acuity (p=0.163) and refractive error (p=0.077) after using smartphone at 40 cm for 30 minutes. Conclusions: It is recommend to keep 40 cm off the smartphone from eyes to avoid any aided distance visual acuity and refractive error changes. If smartphone is used closer than 40 cm, a rest for 5 minutes is also recommend after every 30 minutes use with smartphone to avoid any aided distance visual acuity and refractive error changes.

The Comparison of $45^{\circ}$ and $55^{\circ}$ Anteroposterior Oblique View for Observating the Intervertebral Foramen (경추 추간공 관찰을 위한 촬영법의 고찰)

  • Jeon, Ju-Seob;Eun, Sung-Jong;Kim, Hye-Ran;An, Seung-Hyun;Choi, Nam-Kin;Kim, Young-Keun
    • Journal of radiological science and technology
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    • v.28 no.2
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    • pp.91-95
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    • 2005
  • The cervical spine of anteroposterior oblique view is essential to observe the intervertebral foramen(IVF). The morphologic changes of IVFs were proved to be abnormal with nerve roots and peripheral structures. The purpose of this study is to evaluate the effective projection angle for observing the IVFs in the Korean adults. In a prospective clinical study of 100 normal persons, $45^{\circ}$, $50^{\circ}$ and $55^{\circ}$ oblique views were compared by measuring the maximal transverse diameter of all the cervical IVFs. $45^{\circ}$ oblique views provided slightly better visualization of upper cervical level(C2-C3, C3-C4, C4-C5), but the lower cervical level(C5-C6, C6-C7, C7-T1) of IVF transverse diameters were substantially increased on the $55^{\circ}$ AP oblique projection. In the comprasion of mean differences between 8 obese person(BMI > 25) and 58 normal person(18.5 < BMI < 22.9) proved to be statistically not significant. Consequently this study shows that $55^{\circ}$AP oblique(tube angle $15^{\circ}$cephalad) view is optimal for evaluating the lower cervical IVFs.

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A Study of the Capsuloligamentous Anatomy of the Glenohumeral Joint Using Magnetic Resonance Imaging and Three-Dimensional Imaging. Dynamic In Vivo Study (자기공명 영상 및 3차원 영상을 이용한 견관절 관절낭-인대의 해부학적 연구. 역동학적 생체연구)

  • Park Tae-Soo;Choi Il-Yong;Joo Kyung-Bin;Kim Sun-Il;Kim Jun-Sic;Paik Doo-Jin
    • Journal of the Korean Arthroscopy Society
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    • v.4 no.2
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    • pp.154-158
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    • 2000
  • Purpose : The purpose of this study is to demonstrate changes in the orientation ortho glenohumeral ligaments(GHL) in different degrees of abduction and rotation of the normal healthy individuals. Materials and Methods : Saline Magnetic Resonance(MR) arthrography of nine consecutive shoulders of normal healthy adults were checked. At that time, MR images were obtained in three different positions of abduction and external rotation($0^{\circ}C\;and\;0^{\circ},\;45^{\circ}C\;and\;25^{\circ}C,\;90^{\circ}$ and maximum, respectively). From a series of consecutive MRI, three-dimensional images were reconstructed after detecting the location of the middle glenohumeral ligament(MGHL) and the inferior glenohumeral ligament(IGHL) using workstation computer. Results : The shape of the MGHL was taken in double curved, and straight, and finally curved again in three different positions of the shoulder in sequence. On the other hand, the shape of the IGHL was obliquely positioned, and curvilinear, and finally straight and extended at lower part of the anterior surface of the humeral head. Conclusions : At $45^{\circ}$ of abduction and $25^{\circ}$ of external rotation, and at $90^{\circ}$ of abduction and maximal external rotation of the shoulder, the MGHL and the IGHL had the role of the most important static stabilizer of the glenohumeral joint repectively.

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A Study on Red Cell Protoporphyrin Concentration and Iron Metabolism (적혈구(赤血球) Protoporphyrin과 철분대사(鐵分代謝)에 관(關)한 연구(硏究))

  • Cho, Kyung-Hwan;Tchai, Bum-Suk
    • Journal of Nutrition and Health
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    • v.7 no.3
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    • pp.1-13
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    • 1974
  • The relative state of human iron storage may be ascertained more reliably through determination of the serum iron, iron binding capacity, transferrin saturation and absorption of radioactive iron in conjunction with studies of red cell morphology than from the study of red cell morphology alone. Recent investigations have shown that there is an increase in red cell protoporphyrin concentration in iron deficiency anemia. The significance of the red cell protoporphyrin has been discussed greatly during the years since its discovery. Two of the main factors which appear to influence the amaunt of protoporphyrin are increased erythropoiesis and factors interfering with the utilization of iron in the synthesis of hemoglobin, and iron deficiency. Recently Heller et al. have described a simplified method for blood protoporphyrin assay and this technique could be used assess nutritional iron status, wherein even minor insufficiencies are detectable as increased protoporphyrin concentrations. Based on the evaluation of the relationship between nutritional iron status and red cell protoporphyrin as an index suitable for the detection of the iron deficiency is described in this paper. RESULTS 1. Hemoglobin Concentrations and Anthropometric Measurements. The mean and standard deviations of the various anthropometric measurements of different age and sex groups are shown in table 1. There measurements have been compared with the Korean Standard. In the absence of local standards for arm circumference and skin-fold thickness over triceps, they have been compared with the standard from Jelliffe. Table 2,3, and 4 give anthropometric measurements and frequency (%) of anemia in children surveyed. The mean height of the children studid was 10 to 20 percent; below the Korean Standard. The distribution of height below 80 percent of the Standard was 21.2 percent, however, among anemic group this percentage was 27.7 percent. In general, the mean weight of the children was 10 to 15 percent below the Korean Standard. The percentage of children with weight less than 80 percent of the Standard was about 35 percent. But in the anemic group of the children, this percentage was 44 percent. The mean arm circumference was about 15 percent lower than the Jelliffe's standard. 61.2 percent of the children had values of arm circumference below 80 percent of the standard. Children with low hemoglobin levels, this percentage was 80 percent. The mean skinfold thickness over the triceps of the children studied was about 25 Percent lower than the Jelliffe's standard and 61.2 percent of the children had the value less than 80 percent of the standard. Among anemic children, this percentage was 70.8%. As may be seen from table 5, the mean hemoglobin concentration of the total group was 11.3g/100ml. Hemoglobin concentration was less than 11.0g/100ml. in 65(36.5%) of the 178 children. The degree of anemia in most of these children was mild with a hemoglobin level of less than 8.0g/100ml. found in only one child. In general, the prevalence of anemia was high in female children than male and decreased its frequency with increasing age. Relatively close relationship was observed between hemoglobin level and anthrophometric measurements especially high between arm circumference and skinfold thickness and hemoglobin but very low in height and low in weight and hemoglobin level, estimated by chi-square value. II. Serum iron, Transferrin saturation (1) Serum iron, and transferrin saturation Serum iron, transferrin saturation and red cell protoporphyrin concentrations were estimated in sub-sample of 84 children from 1 to 6 years and 24 older children between 7 and 13 years of age. The findings are presented in table 6. The mean serum iron concentration of the total group was 59ug/100ml. However, the level incrased with age from 36.6ug/100ml. (1-3years) to 80.8ug/100ml. (7-13 years). 60 percent of these children had a serum iron level less than 50ug/10ml. in the 1-3 years age group and 31.4 percent for 4-6 years group. These contrast with the finding of 12.5 percent anemic children in the 7-13 years age group. The mean transferrin saturation for the total group was 18.1 percent and frequency of anemia by transferrin saturation was observed same pattern as serum iron concentration. (2) Red cell protoporphyrin concentrations. (a) Red cell protoporphrin levels of children: Red cell protoporphyrin and other biochemical data are shown in table 4. The mean concentration in red cell of all children was fround 46.3ug/100ml. RBC. and differences with age groups were observed; in the age group 1-3 years, the mean concentration was $59.5{\pm}32.14$ ug/100ml. RBC; 4-6 years $44.1{\pm}22.57$ ug/100ml. RBC. and 7-13 years, $39.0{\pm}13.56$ ug/100ml. RBC. (b) Normal protoporphyrin values in adults: It was observed that in 10 normal adult males studied here the level of protoporphyrin in red cell ranged from 18 to 54 ug/100ml. RBC. and the mean concentration was $47.5{\sim}14.47$ ug/100ml. RBC. Other biochemical determination made on the same subjects are presented in table 8. (c) Red tell protoporphyrin concentration of occupational blood donors: The results of analyses for red cell protoporphyrin as well as serum iron, transferrin saturation and hemoglobin in the 76 blood donors are presented in table 7 and 8. In this experiment, donors were selected at random, however, most of them bled repeatedly because of poor economic situation, I doubt. Table 9 shows the distribution of red cell protoporphyrin concentration and hemoglobin concentration of occupational donors. The mean hemoglobin value for the total was 11.9 g/100 ml. When iron deficiency anemia is defined as a transferrin saturation below 15%, prevalence of anemia was 47.4 percent and the mean serum iron was 27.1ug/100ml. and red cell protoporphyrin, 168.3ug/100ml. RBC. However, mean serum iron and protoporphyrin concentration of above 15% transferrin saturation were 11.6 ug/100 ml. and 58.8 ug/100 ml. RBC. respectively. The mean Protoporphyrin concentration of non-anemic (above 15% transferrin saturation) donors was slightly higher than the results of normal adult males.

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Effect of Automatic Exposure Control Marker with Chest Radiography in Radiation Reduction (자동노출제어를 사용한 X선 흉부촬영에서 AEC 표지자 사용에 따른 환자 피폭선량 감소 효과)

  • Jung, Ji-Sang;Choi, Byoung-Wook;Kim, Sung-Ho;Kim, Young-Mo;Shim, Ji-Na;Ahn, Ho-Sik;Jin, Duk-Eun;Lim, Jae-Sik;Kang, Sung-Ho
    • Journal of radiological science and technology
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    • v.37 no.3
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    • pp.177-185
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    • 2014
  • This study focused on effects of patient exposure dose reduction with AEC (Auto Exposure Control) marker that is designed for showing location of AEC in X-ray Chest radiography. It included 880 adults who have to use Chest X-ray Digital Radiography system (DRS, LISTEM, Korea). AEC (Ion chambers are posited in top of both sides) are used to every adult and set X-ray system as Field size $17{\times}17inch$, 120kVp, FFD 180cm. 440 people of control group are posited on detector to include both sides of lung field and the other 440 people of experimental group are set to contact their lung directly to Ion chamber (making marker to shows location). Then, measured every DAP and, estimated patient effective dose by using PCXMC 2.0. The average age of control group (M:F=245:195) is 53.9 and the average BMI is 23.4. BMI ranges from under weight: 35, normal range: 279, over weight: 106 to obese: 20 and average DAP is 223.56mGycm2, Mean effective dose is 0.045mSv. The average age of experimental group (M:F=197:243) is 53.7 and the average BMI is 22.7. BMI ranges from under weight: 34, normal range: 315, over weight: 85 to obese: 6 and average DAP is 207.36mGycm2, Mean effective dose is 0.041mSv. Experimental group shows less Mean effective dose as 0.004mSv (9.7%) than control group. Also, patient numbers who got over exposure more than 0.056mSv (limit point to know efficiency of AEC marker) is 65 in control group (14.7%), 19 in experimental group (4.3%) and take statistics with t-Test. The statistical difference between two groups is 0.006. In order to use proper amount of X-ray in auto exposure controlled chest X-ray system, matching location between ion chamber and body part is needed, and using AEC marker (designed for showing location of ion chamber) is a way to reduce unnecessary patient exposure dose.

Association of Bone Mineral Density with the Metabolic Syndrome (건강검진 수진자들에서 골밀도와 대사증후군의 연관성)

  • Kang, Yeong-Han;Kam, Shin
    • Journal of radiological science and technology
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    • v.31 no.3
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    • pp.259-266
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    • 2008
  • Objective : The purpose of this study was to examine the relationship between bone mineral density (BMD) and the metabolic syndrome. Method : We conducted a cross-sectional study of 1204 adults(males: 364 females: 840) in a general hospital health promotion center. They were grouped into the normal and lower BMD group according to bone loss(osteopenia, osteoporosis), as determined by duel energy X-ray absorptiometery(DEXA). We analyzed the association between BMD and metabolic syndrome by multiple logistic regression analysis. After adjustment for age, weight, alcohol intake, smoking, regular exercise, regular intake of meals, and menopausal status, odds ratios for the prevalence of the metabolic syndrome by gender were calculated for lower BMD. Results : After adjustment for the effect of potential covariates, the prevalence of metabolic syndrome was associated with bone loss in men(p<0.001). If the odds ratio of normal group is 1.00, then that of the lower BMD group is 3.07(95% CI=1.83-5.16). The prevalence of metabolic alterations fitting the criteria of metabolic syndrome was significantly decreased in High BMI, Low HDL in men and in High BMI in women(p<0.05). Conclusions : This study shows that BMD was associated with metabolic syndrome. Further studies needed to obtain evidence concerning the association between BMD and metabolic syndrome.

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Studies on the Biological Effects of Chemosterilant, Hempa, on the Rice Weevil (Sitophilus oryzae 1.) and Transmission of Sterility (화학적 불임유기물질 Hempa가 쌀바구미(Sitophilus oryzae L.)에 미치는 생물학적 영향 및 불임성의 전달에 관한 연구)

  • Shim Jai Wook
    • Korean journal of applied entomology
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    • v.12 no.1
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    • pp.1-21
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    • 1973
  • Some experiments were conducted to investigate the effects of the chemosterilant, hempa, on the biology of the rice weevil, Sitophilus oryzae L., and the transmission of the lethal factors in the progeny. One to three days old adult males were fed on the wheat grains treated with concentrations of 0.0625, 0.125, 0.25, and $0.5\%$ of hempa water solution. The effects of the treatment on the mortality, longevity, and the performance of oviposition were examined for the Pl generation, and the hatchability and mortality in the postembryonic development were also tested in the $F_1,\;F_2,\;BC_1,\;F_3,\;and\;BC_2$ generations to analyze the inheritance of the lethal factors. The results obtained were summarized as follows. (1) The average longevity of the treated males were ranged from 26.6 to 30.4 days, and indicated no statistical differences. (2) The mortality of the treated males were ranged between $3.3\%\;and\;13.3\%$ and showed no statistical significance. (3) The overall mean number of eggs laid by a female mated to a treated male with concentrations of 0.0625, 0.125, 0.26 and $0.5\%$ were 3.78, 4.05, 3.75 and 3.61 for the respective treatments, and they were not differ significantly from those of control which were 3.60 per female per 3 day period. The unmated female laid 1.91 in the same period, and significantly differ from those in other experimental groups. (4) The overall mean hatchability of the eggs laid by the females mated with males that had been treated with various concentrations of hempa were 86.82, 64.77, 53.47, 40.33 and $24.78\%$ for the respective concentrations of 0, 0.0625, 0.125, 0.25 and $0.5\%$. The hatchability decreased with the increasing concentrations. (5) The minimum hatchabilities were obtained from the eggs laid in the period of 10-12 days after treatment, then the hatchability increased showing some recovery. The recovery seemed to be very much delayed for the males which had been treated with the greater concentrations. Such a difference in hatchability might be related with the sensitivity of the developmental stages of the sperms, and broader spectrum in the stages and severer effects seemed to be associated with the increased concentrations. (6) The overall mean of larval mortality in the $F_l$ generation were 6.55, 17.89, 27.40, 35.42 and $52.17\%$ for the respective concentrations of 0,0.0625, 0.125,0.25 and $0.5\%$. And there was a tendency to increase in the mortality with the increase of concentrations. (7) The correlation coefficients between per cent sterile eggs and larval mortality for the experimental plots of 0.125, 0.25 and $0.5\%$ treatments showed r=+0.83 and +0.85, respectively, and it seemed to be close correlation between the lethal effects on the embryonic and post-embryonic developments. (8) Since the $SC_{50}$ of the sterile eggs was $0.133\%$ and $SC_{50}$ of the larval mortality was $0.565\%$, it was considered that tile lethal factors expressed more in the egg stages than the larval stages. (9) The ratio of female to male in the $F_l$ adults showed 100 : 125, 100 : 108 and 100 : 124 for the plots of 0.125, 0.25 and $0.5\%$ treatments, respectively. And it n·as considered that the sex ratio distortions might occur with the higher concentrations. (10) When the F, males originated 1.on the eggs had been laid by p, in the period of 16-18 days after treatment, were crossed to normal females $(BC_1)$ and made sib matings $(F_2)$, the per cent sterile eggs of the $BC_1$ generation were 13.88 and $33.04\%$ , and were 31.01 and $38.73\%$ for the $F_2$generation with the plots of 0.0625 and $0.125\%$ treatment, respectively. And these seemed to be a results of the $F_1$ individuals are carrying some chromosomal aberrations (11) The larval mortality was the highest in the $F_2$ plot and followed the female backcross plot, and the least in the male backcrosses. (12) The proportions of 1st and 2nd instar larvae among the larval development at tile 17th day after oviposition were 10.98, 27.26, 32.98 and $15.73\%$ in the normal female $\times$ normal male, $F_1$ female$\times$normal male, normal $female \;\times F_1$ male and $female \;\times F_1$ male plots, respectively. It was considered that the larval development might be delayed by the treatment in the 2nd generation. (13) Per cent larval mortality and sterile eggs were greater in the $F_2$ sib mating plots $(F_3)$ than both of $F_2$ backcrosses. Therefore, it seemed that some of the recessive lethal mutations might affect in the further generations. (14) The sterility, induced by the treatment of chemosterilant, hempa, was considered as the result of the dominant lethal mutations due to chromosomal aberrations such as translocation and/or deletion. The effects of these lethal factors seemed to be inherited tip to 3rd generation after treatment.

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The Bronchial Biopsies and Steroid Response in Unexplained Chronic Non-Productive Cough (원인을 알 수 없는 만성 기침의 기관지 생검소견과 경구 스테로이드의 효과)

  • Lee, Sang-Yeub;Jeong, Hye-Cheol;Kim, Kyung-Kyu;Kim, Je-Hyeong;Kwan, Young-Hwan;Lee, Sung-Yong;Lee, So-Ra;Cho, Hyun-Deuk;Lee, Sin-Hyung;Shim, Jae-Jeong;Cho, Jae-Yun;Kim, Han-Gyum;Kang, Kyung-Ho;Yoo, Se-Hwa;In, Kwang-Ho
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.3
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    • pp.372-385
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    • 1999
  • Background: The purpose of this study was to examine the causes and pathologic process of chronic non-productive cough as an isolated symptom with a normal spirometry and chest radiograph by investigating clinicopathologic findings. Method: We studied 25 adults with chronic non-productive cough over a 3-week period with a normal chest radiograph and pulmonary function tests without any other symptoms. Clinical assessment, cough score, chest and sinus radiograph, pulmonary function tests, methacholine challenge, allergic skin prick test, and bronchoscopy for bronchial biopsies were performed. Subjects were then treated with prednesolone 20 to 30 mg/day for 1 to 2 weeks. Results: The experimental group was divided into two subgroups-those infiltrated with eosinophils, and those infiltrated with lymphocytes depending on eosinophil and lymphocyte counts, both of which were respectively higher than those of the control group. Eosinophils infiltrated group had mean numbers of eosinophil of 89.8 $cells/mm^3$ while control group's mean was 0.4 $cells/mm^2$(p=0.005). Lymphocyte infiltrated group was 4 patients whose mean was 84.3 $cells/mm^2$ with 28.4 $cells/mm^2$ of control group(P=0.026). In addition, the mean thickness of the basement membrane of experimental group was $14.20{\pm}5.20{\mu}m$ in contrast of control group whose mean was $3.50{\pm}1.37{\mu}m$(P=0.001). With the methacholine challenge test, 7 of the 21 eosinophil infiltrated subjects were diagnosed with cough variant asthma ; the other 14 with eosinophilic bronchitis. Three subjects with eosinophilic bronchitis were atopic positive (21.4%) with the skin prick test In the lymphocyte dominant group, all four subjects were diagnosed with lymphocytic bronchitis. Cough score was improved after steroid treatment in 22 of 25 subjects in the experimental group (88.0%). Conclusion: These results suggest chronic non-productive cough as an isolated symptom with a normal spirometry and chest radiograph was associated with airway inflammation by eosinophil and lymphocyte infiltration. The causes for chronic non-productive cough were eosinophilic bronchitis, cough variant asthma, and lymphocytic bronchitis(written in frequency). They further suggest that therapeutic treatment with steroids can provide effective symptomatic relief.

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Respiratory Gas Exchange and Ventilatory Functions at Maximal Exercise (최대운동시의 호흡성 가스교환 및 환기기능)

  • Cho, Yong-Keun;Jung, Tae-Hoon
    • Tuberculosis and Respiratory Diseases
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    • v.42 no.6
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    • pp.900-912
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    • 1995
  • Background: Although graded exercise stress tests are widely used for the evaluation of cardiorespiratory performance, normal standards on respiratory gas exchange and ventilatory functions at maximal exercise in Koreans have not been well established. The purpose of this study is to provide reference values on these by sex and age, along with derivation of some of their prediction equations. Method: Symptom-limited maximal exercise test was carried out by Bruce protocol in 1,000 healthy adults consisting of 603 males and 397 females, aged 20~66 years. Among them VC, $FEV_1$ and MVV were also determined in 885 cases. All the subjects were members of a health center, excluding athletes. During the exercise, subjects were allowed to hold on to front hand rail of the treadmill for safety purpose. Results: The $VO_2\;max/m^2$, $VCO_2\;max/m^2$ and $V_E\;max/m^2$ were greater in males than in females and decreased with age. The RR max in men and women was similar but decreased slightly with age. The $V_T$ max was markedly greater in men but showed no significant changes with age in either gender. The mean of $V_T$ max/VC, $V_E$ max/MVV and BR revealed that there were considerable ventilatory reserves at maximal exercise even in older females. The regression equations of the cardinal parameters obtained using exercise time(ET, min), age(A, yr), height(Ht, cm), weight(W, kg), sex(S, 0=male; 1=female), VC(L), $FEV_1$(L) and $V_E$ max(L) as variables are as follows: $VO_2\;max/m^2$(L/min)=1.449+0.073 ET-0.007A+0.010W-0.006Ht-0.209S, $VCO_2\;max/m^2$(L/min)=1.672+0.063ET-0.008A+0.010W-0.005Ht-0.319S, VE max/$m^2$(L/min)=58.161+1.503ET-0.315A-9.871S or VE max/$m^2$(L/min)=47.873+6.548 $FEV_1$-5.715 S, and VT max(L)=1.497+0.223VC-0.493S. Conclusion: Respiratory gas exchange and ventilatory variables at maximal exercise were studied in 1,000 non-athletes by Bruce protocol. During exercise, the subjects were allowed to hold on to hand rail of the treadmill for safety purpose. We feel that our results would provide ideal target values for patients and healthy individuals to be achieved, since our study subjects were members of a health center whose physical fitness levels were presumably higher than ordinary population.

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Sequencing analysis of the OFC1 gene on the nonsyndromic cleft lip and palate patient in Korean (한국인 비증후군성 구순구개열 환자의 OFC1 유전자의 서열 분석)

  • Kim, Sung-Sik;Son, Woo-Sung
    • The korean journal of orthodontics
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    • v.33 no.3 s.98
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    • pp.185-197
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    • 2003
  • This study was performed to identify the characteristics of the OFC1 gene (locus: chromosome 6p24.3) in Korean patients, which is assumed to be the major gene behind the nonsyndromic cleft lip and palate. The sample consisted of 80 subjects: 40 nonsyndromic cleft lip and palate patients (proband, 20 males and females, mean age 14.2 years); and 40 normal adults (20 males and 20 females, mean age 25.6 years). Using PCR-based assay, the OFC1 gene was amplified, sequenced, and then searched for similar protein structures. Results were as follows: 1. The OFC1 gene contains the microsatellite marker 'CA' repeats. The number of the reference 'CA' repeats was 21 times, and formed as TA(CA)11TA(CA)10. But, in Koreans, the number of tandem 'CA' repeats was varied from 17 to 26 except 18, and 'CA' repeats consisted of TA(CA)n. 2. Nine allelic variants were found. Distribution of the OFC1 allele was similar between the patients and control group. 3. There was a replacement of the base 'T' to 'C' after 11 tandem 'CA' repeats in Koreans compared with Weissenbach's report. However, the difference did not seem to be the ORF prediction results between Koreans and Weissenbach's report. 4. The BLAST search results showed the Telomerase reverse transcriptase (TERT) and the Nucleotide binding protein 2 (NBP2) as similar proteins. The TERT was a protein product by the hTERT gene in the locus 5p15.33 (NCBI Genome Annotation; NT023089) The NBP2 was a protein product by the ABCC3 (ATP-binding cassette, sub-family C) gene in the locus 17q22 (NCBI Genome Annotation; NT010783). 5. In the Pedant-Pro database analysis, the predictable protein structure of the OFC1 gene had at least one transmembrane region and one non-globular region.