• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.6 no.2
• /
• pp.161-166
• /
• 2003

Purpose: The purpose of this study was to evaluate the efficiency of treatment of living-related liver transplantation (LRLT) with the parental heterozygote carrier graft in children with Wilson disease. Methods: We retrospectively evaluated 7 children with Wilson disease who had received liver transplantation from 1994 to 2002 at Asan Medical Center. All the donors were parental. Liver functions, Kayser-Fleischer ring, and other factors regarding to copper metabolism were analyzed. Results: Of the 7 children, 5 had fulminant hepatitis and 2 had decompensated liver cirrhosis irresponsive to medical therapy. All donors being parental, all grafts came to be heterozygote carrier grafts. Survival rate was 100% in those 7 children, 87% in all children with liver transplantation in the same period, and 84% in children with non-metabolic liver disease. After liver transplantation, all 7 children could stop low copper diet and penicillamine therapy and their AST, total bilirubin and prothrombin time were recovered to normal. After liver transplantation, ceruloplasmin and serum copper levels were also recovered to normal. A marked reduction in 24 hr-urinary copper excretion was observed in all recipients after transplantation. During follow-up, Kayser-Fleischer rings resolved completely after LRLT in 5 children and partially in 1 child. Conclusion: We concluded that living-related liver tranplantation in children with Wilson disease with parental heterozygote carrier graft is an effective treatment modality.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.16 no.4
• /
• pp.225-232
• /
• 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
• /
• v.16 no.2
• /
• pp.71-75
• /
• 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.

• Research in Community and Public Health Nursing
• /
• v.7 no.1
• /
• pp.129-137
• /
• 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.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
• /
• v.36 no.4
• /
• pp.30-50
• /
• 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.

• Research in Plant Disease
• /
• v.27 no.2
• /
• pp.49-60
• /
• 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
• /
• v.12 no.1
• /
• pp.84-88
• /
• 2009

Purpose: Calcium pyrophosphate dihydrate crystal deposition disease(CPPD) is a disease of the elderly and extremely rare in young individuals. If young people develop CPPD crystal deposition disease, it may be associated with metabolic diseases, such as hemochromatosis, hyperparathyroidism, hypophosphatasia, hypomagnesemia, Wilson's disease, hypothyroidism, and gout. Materials and Methods: Therefore, in young-onset CPPD crystal deposition disease, an investigation of any predisposing metabolic conditions is warranted. Conclusion: We report a case of a young female patient who presented with idiopathic CPPD crystal deposition disease at 25 years of age.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.14 no.1
• /
• pp.1-9
• /
• 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.

• Journal of Oriental Neuropsychiatry
• /
• v.22 no.3
• /
• pp.13-22
• /
• 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
• /
• v.8 no.2
• /
• pp.117-129
• /
• 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.