• Title/Summary/Keyword: Vascular System

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A Study on the Expressed Desire at Discharge of Patients to Use Home Nursing and Affecting Factors of the Desire (퇴원환자의 가정간호 이용의사와 관련 요인)

  • Lee, Ji-Hyun;Lee, Young-Eun;Lee, Myung-Hwa;Sohn, Sue-Kyung
    • The Korean Journal of Rehabilitation Nursing
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    • v.2 no.2
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    • pp.257-270
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    • 1999
  • The purpose of this study is to investigate factors related to the intent of using home nursing of chronic disease patients who got out of a university hospital. For the purpose, the study selected 153 patients who were hospitalized and left K university hospital with diagnoses of cancer, hypertension, diabetes and cerebral vascular accident and ordered to be discharged and performed interviews with them and surveys on their medical records to obtain the following results. For this study a direct-interview survey and medical record review was conducted from June 28 to Aug. 30, 1998. The frequency and mean values were computed to find the characteristics of the study subjects, and $X^2$-test, t-test, factor analysis and multiple logistic regession analysis were applied for the analysis of the data. The following results were obtained. 1) When characteristics of the subjects were examined, men and women occupied for 58.8% and 41.2%, respectively. The subjects were 41.3 years old in aver age and had the monthly aver age earning of 0.99 million won or below, which was the most out of the total subjects at 34.6%. Among the total, 87.6% resided in cities and 12.4 in counties. The most left the hospital with diagnosis of cancer at 51.6%, followed by hyper tension at 24.2%, diabetes at 13.7% and cerebral vascular accident at 7.2%. 2) 93.5% of the selected patients had the intent of using home nursing and 6.5%, didn't. Among those patients having the intent, 85.6% had the intent of paying for home nursing and 14.4%, didn't. The subjects expected that the nursing would be paid 9,143 won in aver age and 47.7% of them preferred national authorities as the main servers. 86.3% of the subjects thought that home nursing business had the main advantage of making it possible to learn nursing methods at home and thereby contributing to improving the ability of patients and their facilities to solve health problems. 3) Relations between the intent of use and characteristics of the subjects such as demography-related social, home environment, disease and physical function characteristics did not show statistically significant differences among one another. Compared to those who had no intent of using home nursing, the group having the intent had more cases of male patients, the age of 39 or below, residence in cities, 5 family member s or more, no existence of home nursing servers, leaving the hospital from a non-hospitalized building, disease development for five months or below, hospitalization for ten days or more, non-hospitalization with in the recent one month, two times or over of hospitalization, leaving the hospital with no demand of special treatment, operation underwent, poor results of treatment, leaving the hospital with demand of rehabilitation services, physical disablement and high evaluation point of daily life. 4) Among those patients having the intent of using home nursing, 47.6% demanded technical nursing and 55.9%, supportive nursing. As technical nursing,' inject into a blood vessel ' and 'treat pustule and teach basic prevention methods occupied for 57.4%, respectively, topping the list. Among demands of supportive nursing, 'observe patients 'status and refer them to hospitals or community resources as available, if necessary' was the most with percent age point of 59.5. Regarding the intent of paying for home nursing, 39.2% of those patients wishing to use the nursing responded paying for technical services and 20.2, supportive services. In detail, 70.0% wanted to pay for a service stated as 'inject into a blood vessel', highest among the former services and 30.7%, a service referred to as 'teaching exercises needed to make the body of patients move', highest among the latter. When this was analyzed in terms of a relation between the need(the need for home nursing) and the demand(the intent of paying for home nursing), The rate of the need to the demand was found two or three times higher in technical nursing(0.82) than in supportive nursing(0.35). In aspects of tech ical nursing, muscle injection(1.26, the 1st rank) was highest in the rate while among aspects of supportive nursing, a service referred to as 'teach exercises needed for making patients move their bodies normally'(0.58, the 1st rank). 5) factors I(satisfaction with hospital services), II(recognition of disease state), III(economy) and IV(period of disease) occupied for 34.4, 13.8, 11.9 and 9.2 percents, respectively among factors related to the intent by the subjects of using home nursing, totaled 59.3%. In conclusion, most of chronic disease patients have the intent of using hospital-based home nursing and satisfaction with hospital services is a factor affecting the intent most. Thus a post-management system is needed to continue providing health management to those patients after they leave the hospital. Further, supportive services should be provided in order that those who are satisfied with hospital services return to their community and live their in dependent lives. Based on these results, the researcher would make the following recommendation. 1) Because home nursing becomes more and more needed due to a sharp increase in chronic disease patients and elderly people, related rules and regulations should be made and implemented. 2) Hospital nurses specializing in home nursing should be cultivated.

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The Expression of Vascular Endothelial Growth Factor (VEGF) is a Highly Significant Prognostic Factor in Stage IB Carcinoma of the Cervix (병기 IB 자궁경부암에서 혈관내피세포성장인자(VEGF)의 발현이 예후에 미치는 영향)

  • Lee Ik Jae;Park Kyung Ran;Lee Jong Young;Lee Kang Kyoo;Song Ji Sun;Lee Kwang Gil;Cha Dong Soo;Choi Hyun Il
    • Radiation Oncology Journal
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    • v.19 no.4
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    • pp.335-344
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    • 2001
  • Purpose : The aim of this study was to clarify the role of VEGF expression as an independent prognostic factor and to identify the patients at high risk for poor prognosis in stage IB cervical cancer. Materials and methods : A total of 118 patients with stage IB cervical cancer who had radical hysterectomy and pelvic lymph node dissection were included in the study. All known high risk factors of the patients were pathologically confirmed from the surgical specimen. Of the 118 patients, n patients were treated with postoperative radiotherapy and/or chemotherapy. VEGF expression was examined using immunohistochemistry in formalin-fixed, paraffin-embedded specimens of post-hysterectomy surgical materials. A semiquantitative analysis was made using a scoring system of 0, +, ++, and +++ for increasing intensity of stain. We classified the patients with scores from 0 to ++ as low VEGF expression and the patients with a score of +++ as high VEGF expression. Results : Of the 118 patients, 35 patients $(29.7\%)$ showed high VEGF expression. Strong correlations were found between the high VEGF expression and both deep stromal invasion (p=0.01) and the positive pelvic node (p=0.03). The 5-year overall and disease-free survival rates for all 118 patients were $95.5\%\;and\;93.8\%$. The 5-year overall (p=0.03) and disease-free survival (p<0.001) rates were $98.5\%\;and\;100%$ for low VEGF expression (0, +, and ++) and $85.5\%\;and\;79.7\%$ for high VEGF expression, respectively. Pelvic and distant failures for low versus high VEGF expression were $1.2\%$ versus $17.1\%$, (p=0.001) and $0\%$ versus $14.3\%$ (p<0.001), respectively. In a Cox multivariate analysis of survival, the high VEGF expression (p=0.02) and the bulky mass (p=0.02) were significant prognostic factors for overall survival. The high VEGF expression (p=0.002), and bulky mass (p=0.01) demonstrated as significant prognostic indicators for disease free survival. Conclusion : These results showed that VEGF expression was a highly significant predictor for pelvic and distant failure and the most significant prognostic factor of overall and disease free survival for the patients with stage IB cervix cancer treated with radical surgery. We strongly suggest that the immune-histochemistry for VEGF expression be performed in a routine clinical setting in order to identify the patients at high risk for poor prognosis in early stage cervical cancer. Furthermore, postoperative and/or chemotherapy did not reduce the pelvic failure and distant metastasis. To improve the cure rate for the patients with high VEGF expression in stage IB cervical cancer, antiangiogenic therapy including anti-VEGF Ab may be new treatment option.

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Mid-term results of IntracardiacLateral Tunnel Fontan Procedure in the Treatment of Patients with a Functional Single Ventricle (기능적 단심실 환자에 대한 심장내 외측통로 폰탄술식의 중기 수술성적)

  • 이정렬;김용진;노준량
    • Journal of Chest Surgery
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    • v.31 no.5
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    • pp.472-480
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    • 1998
  • We reviewed the surgical results of intracardiac lateral tunnel Fontan procedure for the repair of functional single ventricles. Between 1990 and 1996, 104 patients underwent total cavopulmonary anastomosis. Patients' age and body weight averaged 35.9(range 10 to 173) months and 12.8(range 6.5 to 37.8) kg. Preoperative diagnoses included 18 tricuspid atresias and 53 double inlet ventricles with univentricular atrioventricular connection and 33 other complex lesions. Previous palliative operations were performed in 50 of these patients, including 37 systemic to pulmonary artery shunts, 13 pulmonary artery bandings, 15 surgical atrial septectomies, 2 arterial switch procedures, 2 resections of subaortic conus, 2 repairs of total anomalous pulmonary venous connection and 1 Damus-Stansel-Kaye procedure. In 19 patients bidirectional cavopulmonary shunt operation was performed before the Fontan procedure and in 1 patient a Kawashima procedure was required. Preoperative hemodynamics revealed a mean pulmonary artery pressure of 14.6(range 5 to 28) mmHg, a mean pulmonary vascular resistance of 2.2(range 0.4 to 6.9) wood-unit, a mean pulmonary to systemic flow ratio of 0.9(range 0.3 to 3.0), a mean ventricular end-diastolic pressure of 9.0 (range 3.0 to 21.0) mmHg, and a mean arterial oxygen saturation of 76.0(range 45.6 to 88.0)%. The operative procedure consisted of a longitudinal right atriotomy 2cm lateral to the terminal crest up to the right atrial auricle, followed by the creation of a lateral tunnel connecting the orifices of either the superior caval vein or the right atrial auricle to the inferior caval vein, using a Gore-Tex vascular graft with or without a fenestration. Concomitant procedures at the time of Fontan procedure included 22 pulmonary artery angioplasties, 21 atrial septectomies, 4 atrioventricular valve replacements or repairs, 4 corrections of anomalous pulmonary venous connection, and 3 permanent pacemaker implantations. In 31, a fenestration was created, and in 1 an adjustable communication was made in the lateral tunnel pathway. One lateral tunnel conversion was performed in a patient with recurrent intractable tachyarrhythmia 4 years after the initial atriopulmonary connection. Post-extubation hemodynamic data revealed a mean pulmonary artery pressure of 12.7(range 8 to 21) mmHg, a mean ventricular end-diastolic pressure of 7.6(range 4 to 12) mmHg, and a mean room-air arterial oxygen saturation of 89.9(range 68 to 100) %. The follow-up duration was, on average, 27(range 1 to 85) months. Post-Fontan complications included 11 prolonged pleural effusions, 8 arrhythmias, 9 chylothoraces, 5 of damage to the central nervous system, 5 infectious complications, and 4 of acute renal failure. Seven early(6.7%) and 5 late(4.8%) deaths occured. These results proved that the lateral tunnel Fontan procedure provided excellent hemodynamic improvements with acceptable mortality and morbidity for hearts with various types of functional single ventricle.

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Application of Ultrasonic Nano Crystal Surface Modification into Nitinol Stent Wire to Improve Mechanical Characteristics (나이티놀 스텐트 와이어의 기계적 특성 향상을 위한 초음파 나노표면 개질 처리에 대한 연구)

  • Kim, Sang-Ho;Suh, Tae-Suk;Lee, Chang-Soon;Park, In-Gyu;Cho, In-Sik;Pyoun, Young-Shik;Kim, Seong-Hyeon
    • Progress in Medical Physics
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    • v.20 no.2
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    • pp.80-87
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    • 2009
  • Phase transformation, superelastic characteristics and variation of surface residual stress were studied for Nitinol shape memory alloy through application of UNSM technology, and life extension methods of stent were also studied by using elastic resilience and corrosion resistance. Nitinol wire of ${\phi}1.778$ mm showed similar surface roughness before and after UNSM treatment, but drawing traces and micro defects were all removed by UNSM treatment. It also changed the surface residual stress from tensile to compressive values, and XRD result showed less intensive austenite peak and clear martensite and additional R-phase peaks after UNSM treatment. Fatigue resistance could be greatly improved through removal of surface defects and rearrangement of surface residual stress from tensile to compressive state, and development of surface modification system to improve not only bio-compatability but also resistance to corrosion and wear will make it possible to develop vascular stent which can be used for circulating system diseases which run first cause of death of recent Koreans.

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Metabolic syndrome in the overweight and obese adolescents and the impact of obesity on the cardiovascular system (과체중과 비만 청소년에서 대사증후군과 비만이 심혈관에 미치는 영향)

  • Hong, Young Mi;Song, Young Whan;Kim, Hae Soon;Park, Hae Sook;Min, Jung Hae;Jung, Jo Won;Kim, Nam Su;Noh, Chung Il
    • Clinical and Experimental Pediatrics
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    • v.52 no.10
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    • pp.1109-1118
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    • 2009
  • Purpose : Metabolic syndrome (MS), characterized by obesity and insulin resistance, elicits risk factors such as hyperlipidemia, hypertension, and glucose intolerance with additive effects on atherosclerosis, leading to cardiovascular diseases. The purposes of this study were to evaluate the prevalence of MS among overweight and obese adolescents and to investigate the impact of obesity on the cardiovascular system. Methods : In all, 684 adolescents were included in the study. Blood pressure, body mass index (BMI), fasting blood glucose, total cholesterol, triglyceride, low-density-lipoprotein (LDL)-cholesterol, high-density-lipoprotein (HDL)-cholesterol, aspartate aminotransferase (AST), alanine aminotransferase (ALT), and high-sensitive C-reactive protein (hs-CRP) were measured in the patients with a BMI of >85 percentile. Brachial-ankle pulse wave velocity (BaPWV) and ankle brachial index were measured using Vascular Profiler (VP)-1000. Results : MS was confirmed in 19.5% of the overweight and obese adolescents and 50.8% of the obese adolescents. The systolic and diastolic blood pressure, height, weight, fat mass, %fat, BMI, obesity index, and waist circumference were higher in the overweight and obese adolescents with MS. Moreover, the triglyceride, AST, ALT, and hs-CRP levels were higher, whereas HDL-cholesterol level was significantly lower in this group. The overweight and obese adolescents with MS showed shorter diastolic and systolic times, higher heart rate and BaPWV, and longer E-wave deceleration time by echocardiography. Conclusion : Overweight and obese adolescents showed characteristic MS features such as hypertension and hyperlipidemia. Thus, obese adolescents predisposed to MS should be provided early treatment for obesity.

Effect of buchu (Allium tuberosum) on lipid peroxidation and antioxidative defense system in streptozotocin-induced diabetic rats (부추가 Streptozotocin 유발 당뇨쥐의 지질과산화와 항산화방어체계에 미치는 영향)

  • 송영선;정현실;노경희;조혜연;박지영;최춘연;권태완
    • Journal of Life Science
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    • v.13 no.3
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    • pp.333-342
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    • 2003
  • The pathogenic effort of high glucose, possibly in concert with fatty acids, is mediated to vascular complications of diabetes via increased production of reactive oxygen species(ROS), reactive nitrogen species(RNS), and subsequent oxidative stress. This study was carried out to investigate the suppressive effect of buchu(Allium tuberosum) on oxidative stress in streptozotocin(STZ)-induced diabetes in Sprague Dawley male rats. The effect of buchu supplementation (10%) on lipid peroxidation, and antioxidative defense system in blood and liver was compared among normal rats fed basal diet(normal) and diabetic rats fed basal diet(DM-control) or 10% buchu-supplemented diet(DM-buchu). Diabetes was experimentally induced by the femoral muscle injection of 50 mg STZ per kg of body weight. Animals were sacrificed after 4 wks of experimental diets feeding. The induction of diabetes by STZ elevated the level of lipid peroxidation represented by thiobarbituric acid-reactive substances(TBARS) and conjugated dienes in plasma, LDL, liver, and erythrocytes. 10% buchu-supplemented diet significantly reduced the levels of conjugated dienes in erythrocytes(p<0.05) and lowered TBARS in liver and LDL to the levels of control. Induction of diabetes by STZ elevated Mn-superoxide dismutase(Mn-SOD) activity and lowered activities of glutathionine reductase(GSH-red) and glutathionine peroxidase(GSH-px). Catalase activity was not affected by the induction of diabetes by STZ. However, buchu supplementation to diabetic rats significantly elevated catalase activity(p<0.05) and slightly elevated GSH-px and GSH-red activities in liver. GSH levels of blood and liver were lowered or not changed by induction of diabetes by STZ, respectively, while buchu supplementation to diabetic rats significantly elevated hepatic GSH level (p<0.05). In conclusion, it can be concluded that buchu might be a food source to attenuate oxidative stress in diabetic patients by inhibiting lipid peroxidation, by increasing hepatic GSH level, and by inducing anti-oxidative enzyme systems.

Overexpression and Activity Analysis of Cystathionine γ-Lyase Responsible for the Biogenesis of H2S Neurotransmitter (새로운 신경전달물질 H2S 발생 효소, cystathionine γ-lyase의 대량발현 조건과 활성측정)

  • Kim, Kyoung-Ran;Byun, Hae-Jung;Cho, Hyun-Nam;Kim, Jung-Hyun;Yang, Seun-Ah;Jhee, Kwang-Hwan
    • Journal of Life Science
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    • v.21 no.1
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    • pp.119-126
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    • 2011
  • There is a growing recognition of the significance of $H_2S$ as a biological signaling molecule involved in vascular and nervous system functions. In mammals, two enzymes in the transsulfuration pathway, cystathionine ${\beta}$-synthase (CBS) and cystathionine ${\gamma}$-lyase (CGL), are believed to be chiefly responsible for $H_2S$ biogenesis. Genetic inborn error of CGL leads to human genetic disease, cystathioninuria, by accumulating cystathionine in the body. This disease is secondarily associated with a wide range of diseases including diabetes insipidus and Down's syndrome. Although the human CGL (hCGL) overexpression is essential for the investigation of its function, structure, reaction specificity, substrate specificity, and protein-protein interactions, there is no clear report concerning optimum overexpression conditions. In this study, we report a detailed analysis of the overexpression conditions of the hCGL using a bacterial system. Maximum overexpression was obtained in conditions of low culture temperature after inducer addition, performing low aeration during overexpression, and using a low concentration inducer (0.1 mM, IPTG) for induction. Expressed hCGL was purified by His-tag affinity column chromatography and confirmed by Western blot using hCGL antibody and enzyme activity analysis. We also report that the His tag with TEV site attached protein exhibits 76% activity for ${\alpha}-{\gamma}$ elimination reaction with L-cystathionine and 88% for ${\alpha}-{\beta}$ elimination reaction with L-cysteine compared to those of wild type hCGL, respectively. His tag with TEV site attached protein also exhibits a 420 nm absorption maximum, which is attributed to the binding cofactor, pyridoxal 5'-phosphate (PLP).

A Study on Nursing Service of Chronic Diseases by the First Step and Third Step Medical Treatment (1차 및 3차 진료기관 이용 만성질환자의 간호서비스에 관한 연구)

  • Cho Chong Sook
    • Journal of Korean Public Health Nursing
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    • v.10 no.2
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    • pp.103-118
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    • 1996
  • It is to be growing up the interest of community health affairs through visiting nursing care. The health medical treatment of Korea has been changed largely on the period. The juvenile population has decreased. This means that is has took the population consensus of advanced national organization to be increased by the old age. The transition of disease has changed from the contagious disease importance to the chronicity disease omportance because the domestic district population has experienced the sudden urbanization circumstance district population has experienced the sudden urbanization circumstance to be growing up $70\%$ of the whole population. When the nursing service has common function to be delivering from all direction to home, this study is getting the great important phase velocity in order to manage the kernel questional adult chronicity disease of health medical institution at the present age. (1) community over system or with people particularity (2) the first of third step medical treatments. The variety of medical treatments organization has quantity of the delivery manpower and specially between consumers and rdlated person. A qualitative difference is showed at the purpose to be seizing. That research related person is use at district health center in Seoul, by foundation on nurse registration book of H collage hospital and public health registration book. According the chronicity disease. age. and sex. nature agree-able standard 54 people took the content analysis on nurse registration book of total 108 people. The results of the study were as follows: 1. General background factors are houses or kind of medical facilities and number of patients in family. The first medical treatment is more patients than third medical treatment organization. The first medical treatment of economic environment os appering to be worse. 2. The chronicity disease frequency have been different speciality according to medical treatment organization. On case of the first medical treatment. Diabetes and High Blood Pressure were good but Cerebrum Vascular Accident(CVA) showed many for bed case. In addition. the number of family is comparative large exception of CVA on according for moving condition and health more than the first medical treatment. However. family condition. whole family percentage is decreasing preferably through the potential resource is increasing by the number of and the construction of family. The ability of real resource is considered to be low. 3. The average percentage of nurse service has appered to be differed two groups by the first step medical treatment(33.72 times) and third step medical treatment(45.70 times). However, the difference (the first step medical treatment and third step medical treatment) is to be limited to issue the medicine at the service. The condition of nurse care was the indirect nursing care. Supportiong area was to be related to volunteer service and administration support. 4. The various nursing care average percentage of the chronicity disease was increased by orders of Diabetes. High Blood Pressure. and CVA in examination result and the medical treatment. The indirect nursing care was also same. At third step medical treatment, orders of chronicity disease were same. The case of other area on service conditions were increased by order of Diabetes. High Blood Pressure, and CVA. However. it is never appearing the difference at bottleneck affairs nursing care. 5. When the visiting nursing care demand particularly. the average percentage of nursing care from the first step medical treatment that the time under a person is many more than the time over two people. However, there was no difference in statistic. Third step medical treatment is $49.81\%$ at the time under a person. The average nursing care service is appeared by more many when the visiting nursing care demand is a few by 12.83 at the time over two people. 6. By visiting nursing care percentage to be frequency that nursing care averaghe percentage and inter-relation are large. The related factor of the first medical treatment is 0.96. However, the related factor of third medical treatment has shown the decreased 0.49 for the condition of relation more than that. Therefore. the nursing care average percentage is related to the visiting times of a nurse. This result is be showing the obvious fact that the first step medical treatment is few more than third step medical treatment.

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Cold Pressor Response to Seasonal Variation in Winter and Summer (국소한냉자극이 전신 및 국소혈액순환에 미치는 영향 -제 2 보 : 동계 및 하계의 계절변화에 따른 한냉반응-)

  • Park, Won-Gyun;Chae, E-Up
    • The Korean Journal of Physiology
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    • v.17 no.2
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    • pp.93-101
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    • 1983
  • A possibility whether the appearance of adaptation to cold climate during winter could occur or not in Taegu area was evaluated by comparing the data obtained in winter with that obtained by the same method in summer. Circulatory response was induced by the immersion of one hand in the cold water. The systemic and local responses in the blood circulation from the immersed hand and the unimmersed opposite hand were observed simultaneously. In addition Galvanic skin resistance(GSR) that is influenced by the activity of autonomic nervous system and the vascular tonicity was recorded. The experiment was performed by examining sixty healthy college students in winter and fifty in summer, whose mean age was 21.0, mean weight $60.6{\pm}0.90\;kg(male)$ and $48.3{\pm}0.98\;kg(female)$. The cold stimulus was applied by immersing the left hand into the cold water of $5^{\circ}C$ for 3 minutes, and the response was observed on immersed left hand and unimmersed right hand simultaneously. The observation was made through determining mean blood pressure, heart rate, amplitude of photoelectric capillary pulse (APCP) and GSR. The results obtained are as follows: The mean blood pressure was elevated during the cold stimulation. The increase of blood pressure in summer was more remarkable than in winter. At the recovery period the blood pressure was decreased to the control level in winter but the decrease below the control level was observed in summer. The increase of heart rate in summer was more remarkable than in winter during the cold stimulation. At the recovery period heart rate in both winter and summer was decreased below the control level. During the cold stimulation the APCP was decreased on both hands in winter. However it was more prominent on left hand indicating additional direct cold effect on immersed hand. In summer, the decrease of APCP during immersion was less remarkable than that in winter, but the regain of APCP was faster than that in winter at the recovery period. And the prompt increase of APCP over the control level has been obtained at the 3 minutes of the recovery period. The GSR was remarkably increased on immersed hand but slightly decreased on unimmersed opposite hand during the cold stimulation. Thus the finding on immersed hand indicates that the local direct effect of cold water is more prominent than the systemic effect, where as the finding on unimmersed hand indicates that the circulatory response to painful stress elicited by the cold stimulation is more prominent than cold temperature itself. In summary, it seems that the systemic circulatory response to the local cold stimulation of the one hand is arised more from the secondary elicited pain sensation and less from the low water temperature. On the contrary to the report of Kim et $al^{39)}$, the adaptation phenomena in blood pressure to the relatively mild cold climate in winter was not observed in this study. The difference of circulatory response observed in this study between winter and summer may be due to the difference of the magnitude of subjective sensation of the cold water stimulation by the seasonal changes in air temperature.

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Improved Acroparesthesia During Enzyme Replacement Therapy in a Patient Lately Diagnosed with Fabry Disease (진단이 지연된 Fabry 병 환자에서 효소대체요법을 통한 사지 말단 동통의 호전을 보인 1례)

  • Yang, Aram;Kim, Jinsup;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.92-95
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    • 2017
  • Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

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