Acer okamotoanum Inhibit the Hydrogen Peroxide-Induced Oxidative Stress in C6 Glial Cells

Chronic oxidative stress due to the accumulation of reactive oxygen species (ROS) in neuronal cells ultimately leads to neurodegenerative diseases. The use of natural therapies for the prevention of ROS-induced cell damage and for the treatment of neurodegenerative disorders has shown promising results. In this study, we evaluated the neuroprotective effects of the ethyl acetate (EtOAc) fraction of A. Okamotoanum against the hydrogen peroxide (H₂O₂)-induced oxidative stress in C6 glial cells. Results show that cell viability was decreased in cells incubated with H₂O₂, whereas the addition of EtOAc fraction treatments in such cells significantly increased viability. The EtOAc fraction showed the highest inhibitory activity against ROS production and it also decreased the expressions of inflammatory proteins including cyclooxygenase-2, inducible nitric oxide synthase and interleukin-1β. Furthermore, the EtOAc fraction inhibited apoptosis by regulating the protein expressions cleaved caspase

Mega Acer Kit® is more effective for warming the intravenous fluid than Ranger™ and ThermoSens® at 440 ml/h of infusion rate: an experimental performance study / 대한마취과학회지

BACKGROUND: Few studies have investigated the effectiveness of intravenous fluid warmers at low and moderate flow rates below 1,000 ml/h. In this study, we compared the effectiveness of three different fluid warmers at a low flow rate (440 ml/h). METHODS: We experimentally investigated the fluid warming performances of Mega Acer Kit® (Group M, n = 10), Ranger™ (Group R, n = 10), and ThermoSens® (Group T, n = 10) at 440 ml/h for 60 min. All devices were set at a warming temperature of 41℃ with preheating for 10 min. Intravenous fluids were then delivered through them. The fluid temperature (primary endpoint) was measured at 76 cm from the device after infusion for 60 min. The expected decrease in mean body temperature (secondary endpoint) after 5 h infusion for a 70 kg patient (ΔMBT5) was also calculated. RESULTS: The fluid temperature (mean [95% CI]) at 76 cm from the device, 60 minutes after the infusion was higher in group M (36.01 [35.73–36.29]℃), compared to groups T (29.81 [29.38–30.24]℃) and R (29.12 [28.52–29.72]℃) (P < 0.001). The ΔMBT5 (mean [95% CI]) was significantly smaller in group M (−0.04 [−0.04 to −0.03]℃) than that in groups T (−0.27 [−0.28 to −0.29]℃; P < 0.001) and R (−0.30 [−0.32 to −0.27]℃; P < 0.001). However, none of the fluid warmers provided a constant normothermic temperature above 36.5℃. CONCLUSIONS: Mega Acer Kit® was more effective in warming the intravenous fluid with the smallest expected change in the mean body temperature, compared to Ranger™ and ThermoSens®, at a flow rate of 440 ml/h.

Economic Evaluation of Rosuvastatin and Atorvastatin for the Treatment of Dyslipidemia from a Korean Health System Perspective

OBJECTIVE: This study aims to analyze cost-effectiveness of two most-commonly used statins from the perspective of the Korean national health system. METHODS: The scope of the analysis included rosuvastatin (5 mg, 10 mg, and 20 mg) and atorvastatin (10 mg, 20 mg, 40 mg, and 80 mg). Effectiveness was defined as percentage (%) and absolute (mg/dL) reductions of low-density lipoprotein cholesterol (LDL-C) from the baseline. They were derived from published randomized controlled studies for rosuvastatin and atorvastatin. Effectiveness was defined as reductions in LDL-C levels per mg dose of the drugs. The annual direct medical costs including drug acquisition costs and monitoring costs over the one-year time horizon were calculated for each alternative. The average cost-effectiveness ratios (ACERs) and incremental cost-effectiveness ratios (ICERs) for each statin dose were calculated. RESULTS: The ACERs for all doses of rosuvastatin (5 mg, 10 mg, and 20 mg) were lower than those for all doses of atorvastatin (10 mg, 20 mg, 40 mg, and 80 mg). Rosuvastatin 10 mg was the most cost-effective statin for LDL-C reduction. In cost-effectiveness analyses for corresponding doses of rosuvastatin and atorvastatin, rosuvastatin was the superior strategy which suggests both higher effectiveness and lower costs than atorvastatin. However, we have to consider this analysis is highly influenced by current price of statins in each market. CONCLUSIONS: For reduction of LDL-C levels in Korean patients with dyslipidemia, rosuvastatin 10mg is the most cost-effective statin in the current Korean market.

Cost-effectiveness analysis of low density lipoprotein cholesterol-lowering therapy in hypertensive patients with type 2 diabetes in Korea: single-pill regimen (amlodipine/atorvastatin) versus double-pill regimen (amlodipine+atorvastatin) / 한국역학회지

OBJECTIVES: Single-pill combination therapy (amlodipine/atorvastatin) might be more effective than double-pill therapy (amlodipine+atorvastatin) in patients with diabetes and concomitant hypertension requiring statin therapy. We compared the cost-effectiveness of a single-pill with that of double-pill for control of low density lipoprotein cholesterol (LDL-C) levels, with the ultimate goal of cardiovascular disease prevention, in these patients using a cost-effectiveness analysis model that considered medication adherence. METHODS: Effectiveness was defined as the percentage (%) attainment of target LDL-C levels ( or =80% proportion of days covered). A systematic review of the literature was conducted to determine the proportion of patients who were adherent and target goal attainment based on adherence level. The annual medication costs were based on the adherence levels for each regimen. The average cost-effectiveness ratio (ACER) was calculated as the cost per % attainment of the target LDL-C level. RESULTS: The ACER for the single-pill regimen was lower than for the double-pill regimen (4,123 vs. 6,062 Korean won per 1% achievement of target goal). Compared with the double-pill, the medication costs were approximately 32% lower with the single-pill. CONCLUSION: A single-pill for reductions in LDL-C is cost-effective compared with double-pill in hypertensive patients with type 2 diabetes.

HPLC and GC-MS Analysis of Phenolic Substances in Acer tegmentosum

The stem barks, heartwoods, and leaves of Acer tegmentosum (Aceraceae) are widely used in Korea to treat hepatic or cerebral disorders mainly due to alcohol poisoning. This study was aimed to analyze phenolic substances in A. tegmentosum. Quantitative analysis of the three phenolic substances (salidroside, (+)-catechin and scopoletin) was performed by HPLC and the identification of volatile phenolic substances were done by GC-MS. The contents of the three compounds in the three MeOH extracts were higher in the stem bark (salidroside: 80.22 mg/g, (+)-catechin: 23.31 mg/g, and scopoletin: 9.45 mg/g) compared to the heartwoods and leaves. And GC-MS analysis of the stem bark extract demonstrated that p-tyrosol is a main substance of twenty-one compounds identified.

Prevalence and allergens of allergic rhinitis in children and adolescents in Gwangju

PURPOSE: Allergic rhinitis (AR) is one of the most common childhood diseases in Korea. In this study, we aimed to investigate the prevalence and allergens of childhood AR in Gwangju. METHODS: From April 2013 to September 2013 in Gwangju, skin prick test and questionnaire survey were performed targeting 2,330 children in total (350 kindergartners, 930 elementary school students, 589 middle school students, and 461 high school students). RESULTS: The overall prevalence of AR was 23.5% (female 21.3%, male 26.1%). According to age groups, prevalence of AR was 14.9% (female 10.7%, male 19.8%) in kindergartners, 24.5% (female 18.8%, male 29.4%) in elementary school students, 23.3% (female 18.1%, male 27.6%) in middle school students, 26.2% (female 27.7%, male 23.2%) in high school students. The most common allergen was Dermatophagoides pteronyssinus (79.7%), followed by Dermatophagoides farina (72.2%), birch (14.0%), alder (12.0%), Japanese hop (9.2%), Alternaria (8.9%), cat fur (7.2%), Japanese cedar (6.9%), ryegrass (6.6%), willow (6.0%), pine (5.4%), oak (4.9%), mugwort (4.3%), orchard grass (4.0%), sheep fescue (3.7%), fat hen (3.4%), ragweed (3.4%), and maple (3.4%). CONCLUSION: This research figures out the prevalence and the detailed allergens of AR in Gwangju children. We suggest that more vegetation data of Japanese cedar should be surveyed in recent future.

Clinical evaluation of a newly designed fluid warming kit on fluid warming and hypothermia during spinal surgery / 대한마취과학회지

BACKGROUND: The Mega Acer Kit(R) (MAK) is a newly designed heated and humidified breathing circuit that warms fluid passing through the circuit lumen. In this study, we investigated the system's efficacy for the perioperative prevention of hypothermia and fluid warming. METHODS: Ninety patients undergoing spinal surgery were enrolled in this study and randomly assigned to 3 groups based on the fluid warming device used: no fluid warming system (Group C, n = 30), via a Standard Ranger (Group R, n = 30), or via the MAK (Group M, n = 30). Distal esophageal temperatures (Teso) and infusion fluid temperature (TF) were recorded at 15 min intervals for duration of 180 min during surgery. If Teso was < 35.0degrees C, a forced-air convective warming device was used. RESULTS: Final Teso values were 34.8 +/- 0.3degrees C, 35.1 +/- 0.1degrees C, and 35.8 +/- 0.3degrees C in groups C, R, and M, respectively (P < 0.01). Teso was significantly higher in group M when compared with that in groups C and R throughout the study period (P < 0.05). The number of patients requiring a forced-air convective warming device was significantly lower in group M (n = 0) when compared with that in groups R (n = 17) and C (n = 30) (P < 0.05). The final infusion fluid temperature was higher in group M when compared with that in groups C and R throughout the study period (35.4 +/- 1.0 vs. 23.0 +/- 0.3 and 32.8 +/- 0.6degrees C; P < 0.01). CONCLUSIONS: The MAK is more effective for preventing hypothermia and for warming fluid than the Standard Ranger.

Antiangiogenic Activity of Acer tegmentosum Maxim Water Extract in Vitro and in Vivo

Angiogenesis, the formation of new blood vessels, is critical for tumor growth and metastasis. Notably, tumors themselves can lead to angiogenesis by inducing vascular endothelial growth factor (VEGF), which is one of the most potent angiogenic factors. Inhibition of angiogenesis is currently perceived as one of the most promising strategies for the blockage of tumor growth. In this study, we investigated the effects of Acer tegmentosum maxim water extract (ATME) on angiogenesis and its underlying signal mechanism. We studied the antiangiogenic activity of ATME by using human umbilical vein endothelial cells (HUVECs). ATME strongly inhibited VEGF-induced endothelial cell proliferation, migration, invasion, and tube formation, as well as vessel sprouting in a rat aortic ring sprouting assay. Moreover, we found that the p44/42 mitogen activated protein (MAP) kinase signaling pathway is involved in the inhibition of angiogenesis by ATME. Moreover, when we performed the in vivo matrigel plug assay, VEGF-induced angiogenesis was potently reduced when compared to that for the control group. Taken together, these results suggest that ATME exhibits potent antiangiogenic activity in vivo and in vitro and that these effects are regulated by the extracellular regulated kinase (ERK) pathway.

Anti-Depressant Like Effect of Methyl Gallate Isolated from Acer barbinerve in Mice

In the present study, the anti-depressant like effect of methyl gallate (MG) isolated from the stem bark of Acer barbinerve was examined in ICR mice. Body weight (BDW) and blood glucose (BDG) levels significantly decreased in the repeated restraint stress (RRS) group (2 h/day for 14 days) compared to the no stress (NS) group. To examine the effect of MG on RS-induced BDW loss and hypoglycemia, MG (10 mg/kg) and the anti-depressant fluoxetine (10 mg/kg) were administered daily for 14 days. Orally administered MG and fluoxetine significantly attenuated the RS-induced BDW loss and hypoglycemia. Interestingly, MG administered mice showed increased BDG levels in the normal and glucose feeding condition. Chronic RS-subjected mice showed immobilized and depressed behaviors. The effect of MG on the depressed behaviors was evaluated using the tail-suspension test (TST) and the forced swimming test (FST). In both tests, RS-induced immobilized behaviors were significantly reversed in MG and fluoxetine administered groups. Taken together, MG significantly attenuated the RS-induced BDW loss, hypoglycemia, and depressed behaviors. Considering that decreased BDG levels (hypoglycemia) can cause depression, MG may exert its anti-depressant like effect by preventing hypoglycemia. Our results suggest that MG isolated from A. barbinerve can exert anti-depressant like effect, and could be used as a new and natural anti-depressant therapy.

Relationship between Total Sugar Intake and Obesity Indices in Female Collegians

This study investigated the relationship between total sugar intake and obesity indices in 362 female university students. This study was conducted using an anthropometric checkup and 3-day dietary records. Subjects were categorized according to the total sugar intake as or = 83.8 g (group IV, n = 90). No significant differences in age, weight, height, body mass index (BMI), or the percentage of body fat were observed among the four groups. Based on BMI, 20.2% were overweight, and the percentage of body fat was > 30% in 67.1% of all students sampled. Energy intake in each groups was 1,164.7 kcal, 1,488.6 kcal, 1,590.0 kcal, and 1795.8 kcal, respectively (p < 0.001). Total sugar intake in the groups was 20.5 g, 44.6 g, 68.3 g, and 111.8 g, respectively (p < 0.001). Carbonated beverages were identified as the most significant food source for total sugar intake in female university students. The next major foods were ice cream, milk, coffee, fruit, sugar, cookies, bread, chocolate, corn syrup, rice, onion, maple syrup, pickle, and sweet potato. As intake of total sugar increased, intake of energy also increased significantly. Mean daily intakes of fat and calcium/1,000 kcal were significantly higher in group IV than those in the other groups. Mean daily intakes of vitamin C and vitamin E/1,000 kcal were significantly higher in group III than those in the other groups. The percentage of subjects who consumed nutrients below the estimated average requirement was less in the higher total sugar intake group than that in the lower intake group. The obesity indices (weight, BMI, % body fat) were not associated with total sugar intake in the subjects. We conclude that total sugar intake does not seem to influence obesity indices in female university students.

Sensitization rates of airborne pollen and mold in children / 소아과

PURPOSE: Aeroallergens are important causative factors of allergic diseases. Previous studies on aeroallergen sensitization rates investigated patients groups that had visited pediatric allergy clinics. In contrast, we investigated sensitization rates in a general population group of elementary school to teenage students in Incheon, Jeju, and Ulsan. METHODS: After obtaining parental consent, skin-prick tests were performed on 5,094 students between March and June 2010. Elementary school students were tested for 18 common aeroallergens, whereas middle and high school students were tested for 25 allergens. The 25 allergens included Dermatophagoides pteronyssinus, Dermatophagoides farinae, pollen (birch, alder, oak, Japanese cedar, pine, willow, elm, maple, Bermuda grass, timothy grass, rye grass, orchard grass, meadow grass, vernal grass, mugwort, Japanese hop, fat hen, ragweed, and plantain), and mold (Penicillatum, Aspergillus, Cladosporium, and Alternaria). RESULTS: The sensitization rates in descending order were 25.79% (D. pteronyssinus), 18.66% (D. farinae), 6.20% (mugwort), and 4.07% (willow) in Incheon; 33.35% (D. pteronyssinus), 24.78% (D. farinae), 15.36% (Japanese cedar), and 7.33% (Alternaria) in Jeju; and 32.79% (D. pteronyssinus), 30.27% (D. farinae), 10.13% (alder), and 8.68% (birch) in Ulsan. The dust mite allergen showed the highest sensitization rate among the 3 regions. The sensitization rate of tree pollen was the highest in Ulsan, whereas that of Alternaria was the highest in Jeju. The ragweed sensitization rates were 0.99% in Incheon, 1.07% in Jeju, and 0.81% in Ulsan. CONCLUSION: The differences in sensitization rates were because of different regional environmental conditions and distinct surrounding biological species. Hence, subsequent nationwide studies are required.

The Effects of Acer ginnala Leaves Extraction on the Atopic Dermatitis-like Skin Lesions in NC/Nga Mice / 대한피부과학회지

BACKGROUND: Atopic Dermatitis (AD) is a chronic relapsing inflammatory skin disease that is usually observed in patients with an individual or familial history of atopic diseases, and AD is precipitated by environmental factors, including mite antigens. AD is known to be generated by an imbalance of both Th1 and Th2 cytokines. However, the exact etiology of AD is unclear. The leaves of Acer ginnala (AGL) have been demonstrated to have an anti-oxidant effect. OBJECTIVE: We wanted to investigate the effect of AGL on AD-like skin lesions and the other factors related to an immune response. METHODS: The AGL was applied to the AD-like skin lesions on the backs of NC/Nga mice. The efficacy of AGL in the NC/Nga mice was evaluated by the changes of severity of the skin lesions (a modified SCORAD). Blood was collected from the retro-orbital area and the abdominal vena cava. The levels of eosinophils, immunoglobulin (Ig) E and Th2-related cytokines in the blood were measured. RESULTS: The topical application of AGL suppressed the development of AD-like skin lesions. The percent of blood eosinophils was decreased after treatment with AGL. The serum IgE and Th2-related cytokine levels were decreased after treatment with AGL compared with those treated with base cream (the vehicle treated AD group). The IL-4, IL-5 and IL-13 levels were lower than those of the vehicle treated AD group. CONCLUSION: The findings suggest that AGL may exert an inhibitory effect on atopic dermatitis.

Growth and biochemical changes in acer oblongum wall. Seedlings under short-term moisture stress

The over all response of seedlings of Acer oblongum to different water stress levels indicated that the process of plant growth metabolic and enzymatic activities were affected by water stress differently. Although some metabolic changes occurred in stressed plants in comparison to control plants, accumulation of more proline in stressed plants certainly protected the seedlings from stress and consequently growth was not much affected[1, 2]

Introduction to Distribution and Ecology of Sterile Conks of Inonotus obliquus

Inonotus obliquus is a fungus that causes white heart rot on several broad-leaved species. This fungus forms typical charcoal-black, sterile conks (chaga) or cinder conks on infected stems of the birche (Betula spp). The dark brown pulp of the sterile conk is formed by a pure mycelial mass of fungus. Chaga are a folk remedy in Russia, reflecting the circumboreal distribution of I. obliquus in boreal forest ecosystems on Betula spp. and in meridional mountain forests on beech (Fagus spp.) in Russia, Scandinavia, Central Europe, and Eastern Europe. Distribution at lower latitudes in Western and Southern Europe, Northern America, Asia, Japan, and Korea is rare. Infected trees grow for many years without several symptoms of decline. The infection can penetrate through stem injuries with exterior sterile conks developing later. In the Czech Republic, cinder conk is found on birches inhabiting peat bogs and in mountain areas with a colder and more humid climate, although it is widespread in other broad leaved species over the Czech Republic. The most common hosts are B. pendula, B. pubescens, B. carpatica, and F. sylvatica. Less frequent hosts include Acer campestre, Acer pseudoplatanus, Alnus glutinosa, Alnus incana, Fraxinus excelsior, Quercus cerris, Q. petraea, Q. robur, Q. delachampii, and Ulmus sp.

Community structure and regeneration potentialof natural forest site in Gangotri, India

The article reported the regeneration potential and community structure of natural forest site in Gangotri, Uttarakhand. A total of seven tree species were recorded from the site. Among the trees, Picea smithiana was the dominant and Cedrus deodara was found co-dominant species. However, the highest [240 trees/ha] density was reported for Pinus wallichiana while least number of individuals [30 trees/ha] were recorded for Acer caesium and Pinus wallichiana. In tree layer the most of the species [65.16%] were distributed contagiously and few [34.84%] were distributed randomly. However, none of the species should regular distribution pattern. Artemesia gamillinea and Cotoneaster gilgitansis were the most and least dominant shrub species respectively. All species of shrub layer were distributed contagiously [100%]. In the seedling stage, maximum number was observed for Pinus wallichiana [1080 seedling/ha] followed by Picea smithiana [1040 seedling/ha] which was recorded just after in sapling stage, because it shows more survival rate of Picea smithiana [600 sapling/ha] as compared to Pinus wallichiana [520 sapling/ha]. As far as regeneration status was concerned, 71.4% species showed good regeneration, 14.3% species were facing the problem of poor regeneration whereas, only 14.3% species were not regenerating

A Cost-Benefit Analysis of Neonatal Screening Tests for Maple Syrup Urine Disease, Homocystinuria, Galactosemia, and Congenital Adrenal Hyperplasia

PURPOSE: Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that may result from these diseases. In this study, a cost-benefit analysis was performed on the neonatal screening of maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia in Korea. MATERIALS AND METHODS: This study included 1,259,220 Korean newborns born between January 2005 to December 2007, who were screened for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia. We calculated and compared the total costs in cases where these four screening tests were implemented, and those where they were not. RESULTS: There were no benefits to screening for maple syrup urine disease or homocystinuria due to their low prevalence for these two tests, the costs exceeded the benefits at benefit:cost ratios of 0.5:1 and 0.6:1, respectively. In contrast, benefits far exceed costs at a ratio of 4.1:1 for galactosemia and 2.9:1 for congenital adrenal hyperplasia. The average benefit:cost ratio for all four tests was 2.0:1. CONCLUSION: Neonatal screening tests for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia are financially viable.

Studies on chemical constituentsfrom leaves of Acer truncatum / 中国中药杂志

<p><b>OBJECTIVE</b>To study the chemical constituents from the leaves of Acer truncatum.</p><p><b>METHOD</b>Various chromatographic techniques were used to isolate and purify the constituents. The structures of these compounds were elucidated on the basis of spectral analysis.</p><p><b>RESULT</b>Seven compounds were isolated and identified as p-sitosterol (1), beta-amyrin (2), beta-amyrin acetate (3), 3, 5-dihydroxy-4-methoxybenzoic acid (4), astragalin (5), quercetin-3-O-beta-D-galactoside (6), and quercetin-3-O-alpha-L-rhamnoside (7).</p><p><b>CONCLUSION</b>All of compounds were isolated from this plant for the first time.</p>

Dermoscopic Findings of Pigmented Basal Cell Carcinomas in Koreans / 대한피부과학회지

BACKGROUND: Pigmented basal cell carcinomas (PBCC) may be confused with melanoma and other benign pigmented skin lesions. Dermoscopy is a noninvasive technique that is known to increase the diagnostic accuracy of benign versus malignant pigmented skin lesions. Menzies et al recently proposed a simple dermoscopic model for the diagnosis of PBCCs. OBJECTIVE: To demonstrate whether this criteria was adequate for Korean PBCC patients and seek other characteristic dermoscopic findings in Korean PBCCs. METHODS: Dermoscopic images of 50 biopsy-proven PBCCs were examined. RESULTS: Negative features such as a pigment network were not observed in all PBCCs. Positive features-ulceration, large blue-gray ovoid nests, multiple blue-gray globules, maple leaf-like areas, spoke wheel areas and arborizing (treelike) telangiectasia were present in 39 (78.0%), 41 (82.0%), 33 (66.0%), 21 (42.0%), 1 (2.0%) and 32 (64.0%) of 50 PBCCs respectively. All PBCCs satisfied the dermoscopic criteria for diagnosis of PBCC suggested by Menzies et al. Other dermoscopic features were as follows; multiple blue-gray dots (28.0%), milia-like cysts (8.0%), granules (6.0%), diffuse blue-white area (6.0%) and hairpin vessels (2%). Forty-four % of lesions had less than 50% pigmentation of the area and 38.0% of lesions had more than 75% pigmentation. CONCLUSION: The criteria of PBCC proposed by Menzies et al was useful for dermoscopic diagnosis of Korean PBCCs. Ulceration and pigmentary features such as large blue-gray ovoid nests, multiple blue-gray globules, maple leaf-like areas, multiple blue-gray dots, granules and larger pigmented areas were more frequently observed in Korean PBCCs. However, other specific dermoscopic findings for diagnosis of PBCC in Koreans were not present.

Newborn screening of inherited metabolic disease in Korea / 소아과

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.

A Case of 2-Methylbutyryl-CoA Dehydrogenase Deficiency / 소아과

We report a one-day-old Korean boy with 2-Methylbutyryl-CoA dehydrogenase(2-MBCDase) deficiency detected by urine organic acid and acylglycine analysis, plasma acylcarnitine analysis and confirmed by enzyme assay and Western blot. The patient was born at 35 weeks and three days with oligohydroamnios and premature rupture of membrane for 31 hours, as a second child of healthy non-consanguineous parents. There was no significant family history and spontaneous abortion. He was admitted at NICU under ventilator care due to prematurity, respiratory difficulty, and decreased generalized muscle tone. During the first week of hospitalization, he presented with disseminated intravascular coagulation and sepsis. A grade IV intraventricular hemorrhage on brain sonography was observed on the 7th day after birth with seizure. The clinical course of aggravation and recovery was repeated for one month. In laboratory tests, blood C5-acylcarnitines(isovaleryl/ methylbutyrylcarnitine) and urine 2-methylbutyrylglycine(2-MBG) were markedly elevated; butyrylglycine and isobutyrylglycine were also detected in small amounts in the urine. SBCAD(short branched-chain acyl-CoA dehydrogenase) enzyme activity was undetectable in cultured skin fibroblasts and Western blot showed no detectable immuno-reactive protein. Molecular analysis of the 2-MBCD gene revealed a polymorphism in the leader peptide region(38G>A; Arg13Lys) and homozygous for a non-coding polymorphism 639T>C. This is the first such case in Korea. This disorder is known to be relatively common in one other oriental ethnic group, the Hmong. The baby has been fed on a maple syrup urine disease(MSUD)-similar diet program, and is still alive and is 26-months-old now. However, he developed significant neurologic complications including communicating hydrocephalus, cerebral palsy, and blindness. Presumably the prematurity and its complications may also attribute to his severe neurologic problems. However, the clinical course was particularly severe, a finding in contrast with the observation from several asymptomatic Hmong cases. The clinical course of 2-MBCDase deficiency could be very variable and careful monitoring and follow up should be considered.