• Title/Summary/Keyword: 기능적 장애 지수

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Case Report on NTBC Treatment of Type 1 Tyrosinemia Diagnosed through Newborn Screening (신생아 선별검사를 통해 진단된 1형 타이로신혈증의 NTBC 치료 사례 보고)

  • Ji Eun Jeong;Hwa Young Kim;Jung Min Ko
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.23 no.2
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    • pp.39-44
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    • 2023
  • Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by biallelic pathogenic variants in the fumarylacetoacetate hydrolase (FAH) gene, which impairs the function of the FAH enzyme, resulting in the accumulation of tyrosine's toxic metabolites in hepatocytes and renal tubular cells. As a consequence, individuals with HT-1 exhibit symptomatic manifestations. Rapid diagnosis and treatment of HT-1 can prevent short-term death and long-term complications. A 15-day-old boy presented to the outpatient department with elevated levels of tyrosine on his newborn screening tests conducted at the age of 3 and 10 days, respectively. Further blood tests revealed increased levels of alpha-fetoprotein and amino acids including tyrosine and threonine. Urine organic acid tests indicated a significant elevation in tyrosine metabolites, as well as the presence of succinylacetone (SA), which led to the diagnosis of HT-1. Two pathogenic and likely pathogenic variants of FAH compatible with HT-1 were also detected. He began a tyrosine-restricted diet at one month old and received nitisinone (NTBC) at two months old. With continued treatment, the patient's initially elevated AFP level, detection of SA in the urine, and mild hepatomegaly showed improvement. During four years and seven months of treatment, there were no exceptional complications apart from an increase in tyrosine levels and a delay in speech. We report a case of tyrosinemia type 1 detected through newborn screening, treated with dietary restriction and NTBC, with a good prognosis.

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Executive Dysfunction and It's Relation to K-WAIS Scores in Mild Traumatic Brain Injury Patients with Normal Intelligence Quotient (정상 지능의 경도 외상성 뇌손상 환자에서 실행기능 장애 및 K-WAIS 점수들과의 관련성)

  • Lee, Dae-Bo;Yoon, In-Seon;Kim, Seon-Kyung;Rho, Seung-Ho;Park, Min-Cheol;Lee, Sang-Yeol
    • Korean Journal of Psychosomatic Medicine
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    • v.20 no.1
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    • pp.50-58
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    • 2012
  • Objectives : This study examined the selective deficits of executive function in patients with mild traumatic brain injury that in normal range of general intelligence level and aimed to analysis of the correlation between K-WAIS result and executive function. Methods : 59 subjects were included in this study, who were diagnosed as mild traumatic brain injury(MTBI) and they have visited in neuropsychiatric department of Wonkwang University Hospital during from March, 2005 to September, 2010. For measurement of general intelligence quotient, the Korean-Wechsler Adults Intelligence Scale(K-WAIS) was administered and for measurement of executive intelligence quotient(EIQ), Executive Intelligence Test(EXIT) was administered. Results : Of patients, 50.8% included at abnormal EIQ group. The patients of abnormal EIQ showed poorer full scale IQ(FIQ), performance IQ(PIQ) and in subscale that picture arrangement, digit symbol, digit span, block design, object assembly and comprehension were significantly different. In terms of relationships between K-WAIS and EIQ, FIQ and PIQ have positive correlation with EIQ. And in subscale, picture arrangement, digit symbol, digit span, block design, object assembly and comprehension show positive correlation with EIQ. Conclusion : This study suggest that MTBI patients with have normal range of general intelligence level may have deficit of executive function is common. The decline of FIQ, PIQ and some subscales of K-WAIS may suggest executive dysfunction in MTBI patients.

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Actual Status of Constipation and Life Factors Affecting Constipation by Diagnosis of Rome in Female University Students in Korea (일부 한국여대생의 로마진단기준에 의한 변비 실태조사 및 변비에 영향을 미치는 생활요인)

  • Jung, Su-Jin;Chae, Soo-Wan;Sohn, Hee-Sook;Kim, Sook-Bae;Rho, Jeong-Ok;Baik, Sang-Ho;Kang, Myung-Hee;Kim, Gun-Hee;Kim, Mi-Hyun;Kim, Hyun-Sook;Park, Eun-Ju;Heo, Young-Ran;Cha, Youn-Soo
    • Journal of Nutrition and Health
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    • v.44 no.5
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    • pp.428-442
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    • 2011
  • This study investigated the actual status of constipation. In total, 978 female students in Korea participated. We identified the relationship among constipation and life style, clothing patterns, housing patterns, dietary habits, and dietary intake in a constipation symptom group and a normal group. The actual constipation rate based on the Rome II criteria was 27.0% (n = 264). Body weight (p < 0.05) and body mass index (p < 0.05) in the constipation group were significantly higher than those in the normal group. The incidence of functional bowel disease and irritable bowel syndrome in the constipation group were significantly higher than those in the normal group. The discomfort of wearing underwear was significantly higher in the constipation group than that in the normal group. The constipation group revealed a significantly higher rate of irregular dietary habits than those in the normal group. The dietary diversity score of the normal group was 4.22 (p < 0.05), which was significantly higher than that of constipation group (4.12). No significant difference in life style factors was observed. It is necessary for university female students to correct their dietary habits, maintain food intake of three times per day, and select diverse foods. Furthermore, it is necessary for university female students to wear comfortable clothing to lessen symptoms and improve constipation rates.

$^{99m}Tc-DTPA$ Galactosyl Human Serum Albumin Scintigyaphy in Mushiroom Poisoning Patient : Comparison with Liver Ultrasonography (버섯 중독 환자에서의 $^{99m}Tc-galactosyl$ human serum albumin (GSA) scintigraphy 소견 : 간초음파 소견과의 비교)

  • Jeong, Shin-Young;Lee, Jea-Tae;Bae, Jin-Ho;Chun, Kyung-Ah;Ahn, Byeong-Cheol;Kang, Young-Mo;Jeong, Jae-Min;Lee, Kyu-Bo
    • The Korean Journal of Nuclear Medicine
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    • v.37 no.4
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    • pp.254-259
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    • 2003
  • $^{99m}Tc-galactosyl$ human serum albumin (Tc-GSA) is a radiopharmaceutical that binds to asialoglycoprotein receptors, which are specifically present in the hepatocyte membrane. Because these receptors are decreased in hepatic parenchymal damage, the degree of Tc-GSA accumulation in the liver correlates with findings of liver function test. Hepatic images were performed with Tc-GSA in patients with acute hepatic dysfunction by Amantia Subjunquillea poisoning, and compared with these of liver ultrasonography (USG). Tc-GSA (185 MBq, 3 mg of GSA) was injected intravenously, and dynamic images were recorded for 30 minutes. Time-activity curves for the heart and liver were generated from regions of interest for the whole liver and precordium. Degree of hepatic uptake and clearance rate of Tc-GSA were generated by visual interpretation and semiquantitative analysis parameters (receptor index : LHL15 and index of blood clearance : HH15). Visual assessment of GSA scintigraphy revealed mildly decreased liver uptake in all of subjects. The mean LHL15 and HH15 were 0.886 and 0.621, graded as mild dysfunction in 2, and mild to moderate dysfunction in 1 subject. In contrast, liver USG showed no remarkable changes of hepatic parenchyme. Tc-GSA scintigraphy was considered as a useful imaging modality in the assessment of the hepatic dysfunction.

The Effect of Pine (pinus densiflora) Needle Extracts on Blood Flow and Serum Lipid Improvement (적송잎 추출물의 혈행 및 지질개선 효과)

  • Kang, Sung-Rim;Kim, Young-Kyoung;Kim, Sung-Gu;Lee, Sang-Hyeon;Kim, Mi-Hyang
    • Journal of Life Science
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    • v.19 no.4
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    • pp.508-513
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    • 2009
  • Pine needles have long been used as a traditional health-promoting medicinal food in Korea. To investigate the effects of pine (pinus densiflora) needle extracts on blood flow and serum lipid improvement were assessed in vivo. 8 week-old Sprague Dawley strain rats were divided into four groups of seven rats each; CON, 0.5% CHOL, HOT water and Sub-supercritical group. Serum total cholesterol and triglyceride contents were lower in the CON group than the 0.5% CHOL group. Three weeks of feeding hot water and sub-supercritical extract resulted in a decrease in serum triglyceride and total cholesterol level. The level of HDL-cholesterol in the 0.5% CHOL group was significantly (p<0.05) reduced compared to the CON group, but it had a tendency to increase with pine needle extract supplementation. Blood passage time of the pine needle extracts supplemented group was higher than the 0.5% CHOL group. Microscopic observation showed that whole blood passed smoothly through the micro channels in pine needle extracts supplemented groups. The platelet aggregation ability of the groups treated with pine needle extracts was less than that of the 0.5% CHOL group. All these results suggest that pine needle extracts might improve blood homeostasis mediated via antiplatelet activities.

Mild Impairments in Cognitive Function in the Elderly with Restless Legs Syndrome (노인 하지불안증후군에서의 인지기능 저하)

  • Kim, Eun Soo;Yoon, In-Young;Kweon, Kukju;Park, Hye Youn;Lee, Chung Suk;Han, Eun Kyoung;Kim, Ki Woong
    • Sleep Medicine and Psychophysiology
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    • v.20 no.1
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    • pp.15-21
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    • 2013
  • Objectives: Cognitive impairment in restless legs syndrome (RLS) patients can be affected by sleep deprivation, anxiety and depression, which are common in RLS. The objective of this study is to investigate relationship between cognitive impairment and RLS in the non-medicated Korean elderly with controlling for psychiatric conditions. Method: The study sample for this study comprised 25 non-medicated Korean elderly RLS patients and 50 age-, sex-, and education- matched controls. All subjects were evaluated with comprehensive cognitive function assessment tools- including the Korean version of Consortium to Establish a Registry for Alzheimer's Disease Assessment Packet (CERAD-K), severe cognitive impairment rating scale (SCIRS), frontal assessment battery (FAB), and clock drawing test (CLOX). Sleep quality and depression were also assessed with Pittsburgh sleep quality index (PSQI) and geriatric depression scale (GDS). Results: PSQI and GDS score showed no difference between RLS and control group. There was no significant difference between two groups in nearly all the cognitive function except in constructional recognition test, in which subjects with RLS showed lower performance than control group (t=-2.384, p=0.02). Subjects with depression ($GDS{\geq}10$) showed significant cognitive impairment compared to control in verbal fluency, Korean version of Mini Mental Status Examination in the CERAD-K (MMSE-KC), word list memory, trail making test, and frontal assessment battery (FAB). In contrast, no difference was observed between subjects who have low sleep quality (PSQI>5) and control group. Conclusions: At the exclusion of the impact of insomnia and depression, cognitive function was found to be relatively preserved in RLS patients compared to control. Impairment of visual recognition in RLS patients can be explained in terms of dopaminergic dysfunction in RLS.

Effects of the Prunus persica Batsch var. davidiana Max. Extract on the Blood Glucose and Serum Lipid Components in Streptozotocin-Induced Diabetic Rats (돌복숭아(Prunus persica Batsch var. davidiana Max.) 추출액이 Streptozotocin 유발 당뇨성 흰쥐의 혈당 및 지질 성분에 미치는 영향)

  • Kim Han-Soo
    • The Korean Journal of Food And Nutrition
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    • v.17 no.3
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    • pp.337-345
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    • 2004
  • The purpose of this study was designed to observe the effects of the feeding Prunus persica Batsch var. davidiana Max. extract on the improvement of the blood glucose, lipid compositions in the serum of streptozotocin(STZ)-induced diabetic rats fed the experimental diets for 5 weeks. Concentrations of blood glucose, total cholesterol, atherosclerotic index, LDL, LDL-cholesterol, free-cholesterol, cholesteryl ester, triglyceride(TG) and phospholipid (PL) in serum were significantly higher in the STZ (55 mg/kg B.W.)-induced diabetic group (group 2) and STZ(I.P.)+Prunus persica 5.0 g% extract group(group 3) than those in the control group (group 1, basal diet + water). But the concentrations of blood glucose, total cholesterol, atherosclerotic index, LDL, LDL-cholesterol, free-cholesterol, cholesteryl ester, TG and PL in serum were remakably lower in the group 3 than those in the group 2. In the ratio of HDL-cholesterol concentration to total cholesterol and HDL-cholesterol concentration, Prunus persica 5.0 g% extract administration group(group 3) were higher percentage than in the group 2. The activities of aspartate aminotransferase(AST), alanine aminotransferase(ALT), lactate dehydrogenase (LDH) and alkaline phosphatase(ALP) in serum were rather lower in the Prunus persica 5.0 g% extract administration group(group 3) than in the STZ- induced diabetic group (group 2). From the above results, it was suggested that the Prunus persica Batsch var. davidiana Max. were effective on the improvement of the blood glucose, lipid compositions in serum of STZ-induced diabetic rats. Moreover, in Prunus persica Batsch var. davidiana Max. was effective therapeutic regimen for the control of metabolic derangements in adult disease.

Comparison of Quality of Life for Oral Health between Dental Hygiene Students and Non-Dental Hygiene Students in Some Areas by Using Oral Health Impact Profile-14 (구강건강영향지수-14를 이용한 일부 지역 치위생 계열과 비치위생 계열 대학생들의 구강건강 삶의 질 비교)

  • Cho, Minjeong
    • Journal of dental hygiene science
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    • v.14 no.3
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    • pp.302-310
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    • 2014
  • The purpose of this study is to compare the quality of life for oral health between dental hygiene students and non-dental hygiene students in some areas and to analyze the factors affecting on it by using oral health impact profile-14 (OHIP-14). This study was carried out by surveys. Subjects for study were 248 undergraduate students, subjectively recognized oral health condition by subjects were periodontal disease and bad breath, and non-dental hygiene students recognized statistically significantly higher than dental hygiene students (p<0.001). Among the detail factors of OHIP-14, factor of decreased social ability was the lowest impact factor (p<0.01). The most influential factor on OHIP-14 was gender and age, grade of school and alcohol intake were influential in order (p<0.01).

$^{99m}Tc-MAG_3$ Elimination Index on Normal Functioning Transplanted Kidney ($^{99m}Tc-MAG_3$ 제거지수를 이용한 이식신장의 기능평가)

  • Jeon, Woo-Jin;Kim, Ju-Heon;Park, Mi-Ok;Lee, Hee-Jung;Hyun, Jung-Ae;Zeon, Seok-Kil
    • The Korean Journal of Nuclear Medicine
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    • v.29 no.1
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    • pp.79-83
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    • 1995
  • Purpose : We analysed $^{99m}Tc-MAG_3$ renal scans to evaluate renal function of transplanted kidney and to detect various renal transplant complications, measuring the ratio of renal radioactivity at three minutes to that at 20 minutes(elimination index). Material and Methods : The fifty seven renal transplantation recipients were studied. There were 50 normal functioning transplanted kidneys as group I and 7 abnormal function-ing transplanted kidney, including 5 cases of acute renal rejection, 2 cases of acute tubular necrosis as group IIl. The protocol consisted of: (1) $^{99m}Tc-MAG_3$ 740MBq injection intravenously : (2) sequential imaging for 2min(60two-second images) followed by 30min(30 sixty-second images) : (3) drawing of region of interest(ROI) on renal imaging; (4) time-activity corves were generated from renal ROI after background subtraction, and time of maximum activity($T_{max}$) and half time of maximal peak radioactivity($T_{1/2}$) were produced in the renogram curve. (5) EI through Bischof-Delaloye method as determined on the renogram curve. Results : Normal group( I ) shows mean EI of 2.21(95.0% Confidence limit of 2.01-2.87), $T_{max}$ of 154 sec, $T_{1/2}$ of 1,139 sec. Abnormal group(II) shows mean EI of 0.74, $T_{max}$ of 1,466 sec, $T_{1/2}$ of 19,224 sec. The EI, $T_{max}$, $T_{1/2}$, BUN and serum creatinine values are significantly different between normal group(I) and abnormal group(II) (p<0.0001). Conclusion : By measuring EI with $^{99m}Tc-MAG_3$, renal function of transplanted kidney could be easily evaluated and various complications could be detected early.

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Development of Fatigue Scale of Private Security Guards (민간경비원의 피로도 척도개발)

  • Kim, Kyong-Sik;Park, Young-Man
    • The Journal of the Korea Contents Association
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    • v.14 no.11
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    • pp.175-185
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    • 2014
  • This study is to develop a fatigue scale for the private security guard for a private security guard to effectively manage fatigue were tested for validity and reliability. To achieve that, this study employed purposive sampling to draw 300 samples among private security guards working for the security firms registered in Seoul District Police Office as of 2014, and used 259 samples for final analysis. Fatigue scale was developed on the basis of the scale development methods and procedures in previous studies. For data processing, SPSSWIN 18.0 program was applied to conduct exploratory factor analysis, reliability analysis, and correlation analysis, and AMOS 18.0 program was employed to conduct confirmatory factory analysis. This study came to the following conclusion. First, the validity of the fatigue measurement tool was high. In other words, content validity was high, and construct validity was also high. The factor loading of exploratory factor analysis was .452, and the standard value of confirmatory factor analysis was .403. Therefore, the tool satisfied the basis value of fit index. The sub categories of fatigue, finally drawn from validity test, were mental fatigue, nervous system dysfunction, physical deformity, and exhaustion. Secondly, the reliability of the fatigue measurement tool was high. In other words, according to item analysis, the correlation between items and their sub categories, and between items and total score was more than .602, relatively high. And the reliability coefficient (Cronbach's ${\alpha}$) was high, or more than .658. Fatigue Scale tool will be developed by private security guards in the present study is to measure the validity and reliability verification is clearly tired of the private security guards than the tools that are used in other studies in the existing area.