• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제6권2호
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• pp.161-166
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• 2003

목 적: 상염색체 열성 유전 질환인 윌슨병에서 이형 접합 보인자인 부모를 공여자로 생체 부분 간이식을 시행 받은 윌슨병 환아의 치료 경험을 통해 이의 치료 효과를 알아보고자 본 연구를 실시하였다. 방 법: 1994년 12월부터 2002년 3월까지 서울아산병원에서 간이식을 시행받은 75명의 소아 중 윌슨병으로 간이식을 시행 받은 7명을 대상으로 수술 전후의 간 기능과 Kayser-Fleischer ring 소실 여부 및 구리 대사에 관련된 검사 소견 등을 중점으로 의무 기록을 통해 후향적으로 분석하였다. 결 과: 전체 7명의 환자 가운데 5명은 전격성 간염, 2명은 치료에 반응하지 않는 간경변으로 간이식을 받았으며, 공여자는 모두 혈연간 즉 이형 접합 보인자인 부모들이었다. 이식 후 추적 관찰 동안 환자의 생존율은 100%이었으며, 이는 같은 기간 동안 소아 간이식 전체 환자와 대사성 간 질환으로 간이식을 받은 환아의 각각의 5년 생존율 87%, 84%보다 유의하게 높았다(p<0.05). 간이식을 받은 모든 환자는 penicillamine과 구리 제한 식이를 시행하지 않고 이들의 AST치, 총 빌리루빈치 및 프로트롬빈 시간이 정상으로 회복되었고, 추적 관찰 기간 동안 윌슨병 재발의 소견은 없었다. 그리고 혈중 ceruloplasmin치와 혈중 구리 농도는 정상으로 회복되었으며, 24시간 소변 구리 배설양도수술 후 모든 환아에서 현저한 감소를 보였다. Kayser-Fleischer ring은 추적 관찰된 5명 중 4명에서 사라졌고, 추적 관찰이 3개월로 짧았던 한 명에서는 감소되었으나 남아 있었다. 결 론: 윌슨병이 내과적인 약물 치료에 반응하지 않는 간경변으로 진행하거나 전격성 간염으로 발현하여 간이식이 필요한 경우 윌슨병의 이형 접합 보인자인 부모를 이용한 혈연간 생체 부분 간이식은 효과적인 치료법임을 확인할 수 있었다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제16권4호
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• pp.225-232
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• 2013

Children with abnormal liver function can often be seen in outpatient clinics or inpatients wards. Most of them have respiratory disease, or gastroenteritis by virus infection, accompanying fever. Occasionally, hepatitis by the viruses causing systemic infection may occur, and screening tests are required. In patients with jaundice, the tests for differential diagnosis and appropriate treatment are important. In the case of a child with hepatitis B virus infection vertically from a hepatitis B surface antigen positive mother, the importance of the recognition of immune clearance can't be overstressed, for the decision of time to begin treatment. Early diagnosis changes the fate of a child with Wilson disease. So, screening test for the disease should not be omitted. Non-alcoholic fatty liver disease, which is mainly discovered in obese children, is a new strong candidate triggering abnormal liver function. Muscular dystrophy is a representative disease mimicking liver dysfunction. Although muscular dystrophy is a progressive disorder, and early diagnosis can't change the fate of patients, it will be better to avoid parent's blame for delayed diagnosis.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.71-75
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• 2019

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat-Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

• 지역사회간호학회지
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• 제7권1호
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• pp.129-137
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• 1996

The purpose of this study is to examine the medicalizing process of menopanse with literature review, and then is to explore the knowledge of 'menopausal syndrome' critically, focused on four critics on the biomedical model which were suggested by Mishler. Although menopause is a natural biological phenomenon, the view of many medical researchers and practitioners is that menopause is a disease. After synthetic estrogen was developel in 1938, physicians did agree on two basic assumptions : menopausal women should be managed by physicians, and medical intervention should be given. Menopouse was defined as a deficiency disease (estrogen difficiency) by Wilson in 60's and is redefined as a cause of disease(for example, osteoporosis, heart disease) at the present. But the other view of non-medical researcher is that 'menopausal syndrome' as a disease is constructed medically. It was reported that Only hot flush and sweating of physical symptoms experienced by menopausal women, were associated with menopause. Symptoms of menopausal syndrome are also related with symptons of aging. So, it cann't conclude that menopausal syndrome is resulted from menopause, and it cann't be only explained that menopausal syndrome is related causally to estrogen deficiency, and only treatment by ERT or HRT is best relevant. It cann't assume that menopausal syndrome is a common phenomenon to all menopause women, because culture affected on women's experience of menopause.

• 한방안이비인후피부과학회지
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• 제36권4호
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• pp.30-50
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• 2023

Objectives : To investigate the active compounds and therapeutic mechanisms of Atractylodes Lancea(Thunb.) D.C. and Magnolia Officinalis Rehder et Wilson in the treatment of dermatitis accompanied by pruritus, as well as their potential to complement or replace standard drugs. Methods : We conducted the network pharmacological analysis. We selected effective ingredients among the active compounds of research target herbs. Then we explore pathway/terms of the common target proteins among research target herbs, fexofenadine and disease. Results : We selected 9 active compounds are selected from Atractylodes lancea and identified 231 target proteins. Among them, 74 proteins are associated with inflammatory skin diseases that cause pruritus. These proteins are involved in various pathways including, 'Nitric-oxide synthase regulator activity', 'Hydroperoxy icosatetraenoate dehydratase activity, Aromatase activity', 'RNA-directed DNA polymerase activity', 'Arachidonic acid metabolism', 'Peptide hormone processing', 'Chemokine binding' and 'Sterol biosynthetic process'. Additionally, coregenes are involved in 'IL-17 signaling pathway'. Similarly, we selected 2 active compounds from Magnolia officinalis and identified 133 target proteins. Among them, 33 proteins are related to inflammatory skin diseases that cause pruritus. These proteins are primarily involved in 'Vascular associated smooth muscle cell proliferation' and 'Arachidonic acid metabolism'. There is no significant difference between the pathways in which coregenes are involved. Conclusions : It is expected that Atractylodes Lancea will be able to show direct or indirect anti-pruritus and anti-inflammatory effects on skin inflammation accompanied pruritus through suppressing inflammation and protecting skin barrier. Meanwhile, it is expected that Magnolia Officinalis will only be able to show indirect anti-inflammation effects. Therefore, Atractylodes Lancea and fexofenadine are believed to complement each other, whereas Magnolia Officialinalis is expected to provide supplementary support on skin disease.

• 식물병연구
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• 제27권2호
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• pp.49-60
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• 2021

Cashew (Anacardium occidentale L.) is an important cash crop in Tanzania as a source of income to cashew growers and provides foreign exchange for the country. Despite its significance, the crop is threatened by fast spreading disease known as cashew Fusarium wilt caused by Fusarium oxysporum. Field assessment and laboratory tests were conducted to determine incidences of the disease, severity, ecological factors that influence them and explored the pathogen host specificity in six cashew growing districts. The results revealed significant (P<0.001) variation of disease incidences and severity among the studied districts. The results further revealed that there is both positive and negative correlation between the incidence and severity of the disease versus the evaluated ecological factors. The soil pH, soil temperature, air temperature, and relative humidity depicted positive correlation of disease incidence and severity versus ecological factors at ρ=0.50 and ρ=0.60, ρ=0.20 and ρ=0.94, ρ=0.11 and ρ=0.812, ρ=0.05 and ρ=0.771 respectively while nitrogen, phosphorus, and carbon depicted negative correlations at ρ=-0.22 and ρ=-0.58, ρ=-0.15 and ρ=-0.94, ρ=-0.19 and ρ=-0.12 respectively. In terms of host range, none of the weed species was found to be a carrier of Fusarium pathogen implying that it is host specific or semi selective. The results revealed that the tested ecological parameters favor the growth and development of Fusarium pathogen. Thus, management of the disease requires nutrients replenishment and soil shading as essential components in developing appropriate strategies for the control and prevention of further spread of the disease.

• Clinics in Shoulder and Elbow
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• 제12권1호
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• pp.84-88
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• 2009

목적: 칼슘 피로 인산염 침착질환은 노인에게서 호발하며 젊은 성인에서의 발병은 극히 드문 것으로 인식되어 왔다. 대상 및 방법: 젊은 성인에서 발병한다면 혈색소증, 부갑상선 기능항진증, 저인산혈증, 저마그네슘혈증, 윌슨병, 갑상선 기능저하증, 통풍 등과 관련될 수 있으므로 젊은 성인에서 발병하는 다관절성 칼슘 피로 인산염 침착질환은 대사성 질환에 대한 검사가 이루어져야 한다. 결론: 저자들은 대사성 질환이 없는 25세 젊은 여성에서 발병한 특발성 칼슘 피로 인산염 침착질환 1례를 경험하였기에 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.1-9
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• 2014

Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia and congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU and congenital hypothyroidism to increase test numbers with same budget from 1995. 78 laboratories wanted to participate for neonatal screening test in 1999. Government decided to screen six items of PKU, congenital hypothyroidism, maple syrup urine disease, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. In 2014, thirteen laboratories are participating. Inter laboratory quality control was started 6 times a year from 1994. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. According to the government project, from 1997 to 2013, 7,080,569 newborns were screened. 144 PKU, 2.451 congenital hypothyroidism were detected. So incidence of PKU is 1/49,170 and congenital hypothyroidism is 1/2,888. The cost benefit of performing screening procedures coupled with treatment has been estimated to be as high as 1.77 times in PKU, 11.11 times in congenital hypothyroidism than cost without screening. By January 2007, many European countries had expanded of their newborn screening programs by inclusion of Tandem mass spectrometry. We are trying to increase the budget to test all newborns for Tandem mass spectrometry from 2016. We are considering four to five central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose. And I hope to expand test including Wilson disease screening test and lysosomal storage diseases.

• 동의신경정신과학회지
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• 제22권3호
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• pp.13-22
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• 2011

Objectives : This study was to research the relationship between Hwa-Byung and Framingham coronary risk score(FRS), cardiovascular disease. Methods : 649 people participated in the community based cohort study in Wonju City of South Korea from July 2nd to August 30th in 2006. Educated investigators checked up systolic & diastolic blood pressure and surveyed Hwa-Byung Diagnostic Interview Schedule(HBDIS), cohort questionnaire about gender, age, smoking, diabetes. Blood sample was collected from participants to analyze total cholesterol, HDL-cholesterol. FRS was calculated from collected data. 10-year prediction of coronary heart disease was determined from FRS by using score sheet that is estimated by Wilson et al. Collected data were analyzed by the chi-square test. Results : 1. Low risk number of people was 18(52.9%) in Hwa-Byung group, 263(42.8%) in non Hwa-Byung group. p-value was 0.472. Difference of the two group was invalid. 2. The number of people below or equal to average 10-year prediction of coronary heart disease as gnder & age, Hwa-Byung group was 19(55.9%), non Hwa-Byung group was 412(67.0%). p-value was 0.251. Difference of the two group was invalid. Conclusions : There was no correlationship Between Hwa-Byung and 10-year prediction of coronary heart disease.

• Safety and Health at Work
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• 제8권2호
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• pp.117-129
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• 2017

Chronic disease rates have become more prevalent in the modern American workforce, which has negative implications for workplace productivity and healthcare costs. Offering workplace health interventions is recognized as an effective strategy to reduce chronic disease progression, absenteeism, and healthcare costs as well as improve population health. This review documents intervention and evaluation strategies used for health promotion programs delivered in workplaces. Using predetermined search terms in five online databases, we identified 1,131 published items from 1995 to 2014. Of these items, 27 peer-reviewed articles met the inclusion criteria; reporting data from completed United States-based workplace interventions that recruited at-risk employees based on their disease or disease-related risk factors. A content rubric was developed and used to catalogue these 27 published field studies. Selected workplace interventions targeted obesity (n = 13), cardiovascular diseases (n = 8), and diabetes (n = 6). Intervention strategies included instructional education/counseling (n = 20), workplace environmental change (n = 6), physical activity (n = 10), use of technology (n = 10), and incentives (n = 13). Self-reported data (n = 21), anthropometric measurements (n = 17), and laboratory tests (n = 14) were used most often in studies with outcome evaluation. This is the first literature review to focus on interventions for employees with elevated risk for chronic diseases. The review has the potential to inform future workplace health interventions by presenting strategies related to implementation and evaluation strategies in workplace settings. These strategies can help determine optimal worksite health programs based on the unique characteristics of work settings and the health risk factors of their employee populations.