• Journal of Environmental Impact Assessment
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• v.17 no.2
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• pp.143-151
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• 2008

As the NOAFL of copper based on liver toxicity in the human body is set and the TDI of copper is lower, it is necessary to strengthen the drinking water standard of copper according to toxic effects and the TDI of copper in humans. It is difficult to calculate the accurate drinking water standard because of the part of uncertainty for chronic effects of acute human with Wilson's disease and baby in the current studies. In order to improve the drinking water standard of copper considering of liver toxicity, it is desired to set the drinking water standard with concerning of the revising tendency in the foreign countries such as US, EC and WHO.

• Clinical and Experimental Pediatrics
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• v.49 no.11
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• pp.1125-1139
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• 2006

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 & congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU & congenital hypothyroidism to increase test numbers with same budget from 1995. Government decided to test PKU & hypothyroidism for all newborns from 1997. 78 laboratories wanted to participate for neonatal screening test in 1999. Government didn't decide laboratory center for a certain district and placed responsibility on free competition. Government are planning to test 573,000 newborns from 1998, Government decided to screen 6 items PKU, congenital hypothyroidism, maple syrup urine disese, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. 17 laboratores are participating now. The cost of screening test is supported by both the federal government and local government on a 40-60 basis. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. Interlaboratory quality control was started 6 times a year from 1994. According to the government project, 3,707,773 newborns were screened. 86 PKU, 718 congenital hypothyroidism were detected. So incidence of PKU is 1/43,114 and congenital hypothyroidism is 1/4,612. Maeil dairy company produced new special formula for PKU, MMA and PA, MSUD, urea cycle disorder, homocystinuria, isovaleric acidemia from Oct. 1999. 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. We are trying to increase the budget to test all newborns for Tandem mass sereening & Wilson disease from 2008. Now it is a very important problem to decrease laboratory numbers of neonatal screening in Korea. So we are considering 4-5 central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.2
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• pp.154-163
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• 2021

Purpose: In children overlap of autoimmune hepatitis (AIH) and primary sclerosing cholangitis is labelled as autoimmune sclerosing cholangitis (ASC). The only prospective pediatric study showed a high prevalence of ASC by using endoscopic retrograde cholangiopancreatography. Aims of our study were to find the prevalence of ASC by using magnetic resonance cholangiography (MRC) in AIH and in non-AIH cirrhosis and to compare clinical presentation and outcome of AIH and ASC. Methods: Prospectively we did MRC in 38 children with AIH (cases) and 19 disease controls (Wilson disease). Multiple biliary strictures with proximal dilatation on MRC were taken as definitive changes of ASC. Detail clinical, laboratory parameters, liver histopathology and treatment outcome were recorded. Results: The median age of cases was 11.5 (3-18) years, 22 (57.9%) were girls and 28 (73.7%) were diagnosed as type 1 AIH. MRC was done in 11 children (28.9%) at the time of diagnosis and in 27 (71.1%) after a median follow-up of 2.5 (0.3-10) years. Abnormal MRC changes were seen in 14/38 (36.8%) of AIH and 8/19 (42.1%) of controls. However, definite changes of ASC were present in four (10.5%) children in AIH and none in controls. None of the clinical, laboratory, histological parameters and treatment response were significantly different between ASC and AIH groups. Conclusion: The prevalence of ASC in children with AIH was just 10.5%. We suggest MRC in select group with cholestatic features, inflammatory bowel disease and in those who showed poor response to immunosuppression instead of all children with AIH.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.3
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• pp.187-192
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• 2015

Purpose: Measurement of serum ceruloplasmin level is the first step in screening for Wilson's disease (WD). Despite the rarity of WD in the general population, ceruloplasmin levels are routinely measured through hepatitis screening in both adults and children. Herein, we evaluated the diagnostic value of ceruloplasmin for the diagnosis of WD among children with hepatitis. Methods: We retrospectively reviewed data on serum ceruloplasmin levels measured as a serologic marker for patients with hepatitis at Asan Medical Center (Seoul, Korea) between from January 2004 to November 2013. The diagnosis of WD was confirmed by the identification of pathogenic variants in the ATP7B gene. To determine the diagnostic accuracy of ceruloplasmin, receiver operation characteristic (ROC) curves were constructed and the area under curve (AUC) were calculated. Results: Measurements of serum ceruloplasmin were performed in 2,834 children who had hepatitis. Among these, 181 (6.4%) children were diagnosed with WD. The sensitivity, specificity, and accuracy of a ceruloplasmin level of <20 mg/dL in the discrimination of WD were 93.4%, 84.2%, and 84.8%, respectively. In this study, 418 (14.7%) false-positive cases and 12 (0.4%) false-negative cases were noted. Using a ROC curve, a ceruloplasmin level of ${\leq}16.6mg/dL$ showed the highest AUC value (0.956) with a sensitivity of 91.2%, a specificity of 94.9%, and an accuracy of 94.7%. Conclusion: The measurement of serum ceruloplasmin was frequently used for the screening of WD in children, despite a low positive rate. The diagnostic value of ceruloplasmin may be strengthened by adopting a new lower cut-off level.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.6
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• pp.518-527
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• 2021

Purpose: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. Methods: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. Results: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. Conclusion: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.

• Journal of Korean Neurosurgical Society
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• v.29 no.9
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• pp.1255-1257
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• 2000

The authors present a case of subperisoteal orbital hematoma which is extended from subgaleal hematoma. A 15-year-old-male was admitted with a complaint of multiple visual symptoms of left eye following blunt head trauma. He has suffered from Wilson's disease. Several coagulative laboratory findings were abnormal(fibrinogen and coaguation factor V, X). Computed tomography, sonography and magnetic resonance imaging established the subperiosteal orbital extension of subgaleal hematoma into the orbital cavity. Needle aspiration of orbital subperiosteal hematoma was failed but symptoms and signs of the patient were much improved spontaneously following decrease of subgaleal hematoma. The literature is reviewed and management is discussed.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.28 no.1
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• pp.74-80
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• 2002

Necrotizing fasciitis is rare acute infection showing rapidly necrosis involve the subcutaneous tissue and fascia. If treatment is delayed, infection can spread to involve the subcutaneous tissue, skin, deep fascia, and even muscle in rapid sequence, resulting in widespread necrosis and moderate to severe systemic toxicity. Most commonly this disease presents in the extremities, trunk, and perineum; it is relatively rare in the head and neck regions. If not diagnosed and treated in its early stages, necrotizing fasciitis can be potentially fatal, with a motality rate approaching 40%. Historically, the clinical entity now referred to as necrotizing fasciitis was described in the literature under various name. : hospital gangrene, necrotizing erysipelas, streptococcal gangrene, suppurative fasciitis. Necrotizing fasciitis was first described by Wilson in 1952. We experienced 3 cases of necrotizing fasciitis and will report review of literature with diagnosis, treatment, complication and consideration.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.1
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• pp.30-37
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• 2021

Purpose: To investigate the differences in the colon microbiota composition of Hirschsprung's disease (HSCR) patients with and without a history of postoperative Hirschsprung's associated enterocolitis (HAEC). Methods: Colon tissue microbiota was characterized by bacterial deoxyribonucleic acid (DNA) extraction and 16S rDNA sequencing for taxonomic classification and comparison. Results: The sequence diversity richness within samples was significantly higher in samples from patients with a history of postoperative HAEC. We observed an increased relative abundance of the phyla Bacteroidetes, Firmicutes and Cyanobacteria in HAEC patients and Fusobacteria, Actinobacteria and Proteobacteria in HSCR patients and, an increased relative abundance of the genera Dolosigranulum, Roseouria and Streptococcus in HAEC patients and Propionibacterium and Delftia in HSCR patients. Conclusion: Our findings provide evidence that the colon tissue microbiota composition is different in HSCR patients with and without postoperative HAEC.

• Biomolecules & Therapeutics
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• v.10 no.4
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• pp.293-302
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• 2002

The classical concept for iron uptake into mammalian cells has been the endocytosis of transferrin( $T_{f}$ )-bound F $e^{3+}$ via the $T_{f}$ - $T_{f}$ receptor cycle. In this case, we could not explain the uptake of F $e^{2＋}$ ion and the export of iron from endosome. Studies on iron transport revealed that other transport system exists in epithelial cells of the intestine. One of non- $T_{f}$ -receptor-mediated transport systems is Nramp2/DMT1/DCT1 which transports M $n^{＋＋}$, $Mg^{＋＋}$, Z $n^{＋＋}$, $Co^{＋＋}$, N $i^{＋＋}$ or C $u^{＋＋}$ ion as well as F $e^{+2}$ ion. DMT1 was cloned from intestines of iron-deficient rats and shown to be a hydrogen ion-coupled iron transporter and a protein regulated by absorbed dietary iron. DMT1 is founded in other cells such as cortical and hippocampal glial cells as well as endothelial cells in duodenum. Two F $e^{3+}$ ion bound to transferrin( $T_{f}$ ) are taken up via the $T_{f}$ - $T_{f}$ receptor cycle in the intestinal epithelial cell. F $e^{3+}$ in endosome was converted to F $e^{2＋}$ ion, and then exported to cytosol via DMT1. F $e^{2＋}$ ion is taken up into cytosol via DMT1. Several other transporters such as FET, FRE, CCC2, AFT1, SMF, FTR, ZER, ZIP, ZnT and CTR have been reported recently and dysfunction of the transporters are related with diseases containing Wilson's disease, Menkes disease and hemochromatosis. Evidences from several studies strongly suggest that DMT1 is the major transporter of iron in the intestine and functions critically in transport of other metal ions.

• Women's Health Nursing
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• v.28 no.3
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• pp.187-196
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• 2022

Purpose: The purpose of this study was to investigate factors related to the levels of health-related quality of life (HRQoL) in elderly women based on Wilson and Cleary's HRQoL model. Methods: This study analyzed data from the eighth Korea National Health and Nutrition Examination Survey 2019 on 868 women over the age of 65 years. Based on the HRQoL model, parameters were categorized as personal, environmental, and physiological characteristics; symptom status; functional status; and perception of health status. The data were analyzed by quantile regression. Results: The overall level of HRQoL was 0.87. Factors related to HRQoL in the 10% quantile were higher education level, higher economic status, economic activity, more walking days, fewer diseases, lower stress, less activity limitation, and higher perceived health status. Factors related to the 25% quantile of HRQoL were more walking days, fewer diseases, less activity limitation, and higher perceived health status. Factors related to the 50% quantile were age, economic activity, more walking days, fewer disease, lower stress, less activity limitation, and higher perceived health status. Factors related to the 75% quantile of HRQoL were smoking, more walking days, fewer diseases, lower stress, less activity limitation, and higher perceived health status. Conclusion: While differing parameters were identified according to the level of HRQoL of elderly women in Korea, there were five common factors. Interventions that focus on increasing walking, mitigating diseases, stress, and activity limitations, and improving perceived health status can improve HRQoL.