• Asian Pacific Journal of Cancer Prevention
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• v.13 no.5
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• pp.2057-2061
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• 2012

Backgrounds: Deficiency or excess of trace elements can induce body metabolic disorders and cellular growth disturbance, even mutation and cancerization. Since there are few studies of the effect of trace elements in bladder carcinoma in China, the aim of this study was thus to assess variation using a case control approach. Methods: To determine this, 81 patients with bladder carcinoma chosen as a study group and 130 healthy persons chosen as a control group were all assayed for urinary and serum trace elements (calcium [Ca], zinc [Zn], copper [Cu], selenium [Se]) using an atomic absorption spectrophotometer, and the results were analyzed by independent sample t tests. The correlative factors on questionnaires answered by all persons were analyzed by logistic regression. Results: The results showed urinary Ca, Zn and serum Cu levels of the study group to be significantly higher (P<0.05) than those of he control group. Serum Ca and Se levels of study group were significantly lower (P<0.05) than those of control group. Conclusion: There were higher urinary Zn and serum Cu concentrations in bladder carcinoma cases. Bladder carcinoma may be associated with Ca metabolic disorder, leading to higher urinary Ca and lower serum Ca. Low serum Se and smoking appear to be other risk factors for bladder carcinoma in China.

• Clinical and Experimental Pediatrics
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• v.57 no.3
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.15-23
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• 2006

Purpose: Glycogen storage disease type III (GSD-III), is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), which is responsible for the debranching of the glycogen molecule during catabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different patients. In this study, we analyzed mutations of the AGL gene in three unrelated Korean GSD-III patients and discussed their clinical and laboratory implications. Methods: We studied three GSD-III patients and the clinical features were characterized. Sequence analysis of 35exons and part exon-intron boundaries of the AGLgene in patients were carried out by direct DNA sequencing method using genomic DNA isolated from patients' peripheral leukocytes. Results: The clinical features included hepatomegaly (in all patients), seizures (in patient 2), growth failure (in patients 1), hyperlipidemia (in patients 1 and 3), raised transaminases and creatinine kinase concentrations (in all patients) and mild EKG abnormalities (in patients 2). Liver transplantation was performed in patient 2due to progressive hepatic fibrosis. Administration of raw-corn-starch could maintain normoglycemia and improve the condition. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 with c.1510_1511insT (p.Y504LfsX10), and patient 3 with c.3416 T>C (p.L1139P) and c.l735+1 G>T (Y538_R578delfsX4) mutations. Except R428K mutation, 4 other mutations identified in3 patients were novel. Conclusion: GSD-III patients have variable phenotypic characteristics resembling GSD-Ia. The molecular defects in the AGL gene of Korean GSD-III patients were genetically heterogeneous.

• Korean Journal of Medicinal Crop Science
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• v.22 no.5
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• pp.363-368
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• 2014

This study was conducted to find out the optimum composition of nursery soil for raising seedling of ginseng (Panax ginseng C. A. Meyer). Total 9 kinds of raw materials were used such as peat-moss, perlite, leaf mould, rice bran, gull's guano, castor-oil plant bark, palm bark, cow manure and chicken manure for optimum composition of nursery soil in ginseng. Occurrence of damping-off in ginseng was lowered about 50% in nursery soil type 1, 2 and 4 than in other types nursery soil in June, and occurrence rate of rusty root also lowest in nursery soil type 1. As the salinity of nursery soil increased, so did the occurrence of physiological disorder in ginseng seedling. The cause of salinity increasing in nursery soil has closely relation to $NO_3-N$, $P_2O_5$ and $Na^+$ content. Plant height, root length, diameter and weight were longer and heavier in nursery soil type 1 (mixing ratio of peat-moss, perlite and leaf mould was 50 : 20 : 30 based in volume) than in other types of nursery soil. So nursery soil type 1 was selected for raising seedling of ginseng. pH and electric conductivity (EC) of selected nursery soil type 1 was 5.55 and 0.13 dS/m. Contents of $NO_3-N$ and $P_2O_5$ were 21.0 and 40.0 mg/L, and $K^+$ 0.36, $Ca^{2+}$ 3.38, $Mg^{2+}$ 2.01 and $Na^+$ $0.09cmol^+/L$, respectively.

• Korean Journal of Soil Science and Fertilizer
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• v.41 no.3
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• pp.158-163
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• 2008

This study was carried out to elucidate the relationship between yields and inorganic nutrient contents, and then establish of critical range of inorganic nutrient contents in leaves of watermelon in protected cultivation in Gochang from 2004 to 2006. In considering the yields and nutrient contents of watermelon, the critical ranges of macro-nutrient contents in leaves of watermelon at 20 days after transplanting were in N 5.0~6.6%, P 0.30~0.57%, K 3.5~4.2%, Ca 1.7~3.8% and Mg 0.20~0.42%, respectively. The critical ranges of micronutrient content, such as Fe, Mn, Zn, Cu and B, were not found the regular trend with different growth stages. However, the critical range of micronutrient contents in leaves of watermelon at 20 day after transplanting were in Fe 96~128, Mn 67~201, Zn 40~60, Cu 6~9 및 B $41{\sim}82mg\;kg^{-1}$, respectively. Finally, these results might be used at the indicator for critical nutrient contents for diagnosis of nutritional disorder in watermelon in protected cultivation.

• Biomolecules & Therapeutics
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• v.20 no.2
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• pp.226-233
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• 2012

Ethanol exposure during gestational period is related to growth retardation, morphological abnormality, and even in neurological abnormalities including attention deficit/hyperactivity disorder (ADHD)-like behaviors on offspring. However, relatively little is known about the effects of maternal ethanol consumption prior to conception on their offspring. In this study, we investigated whether maternal ethanol administration during preconceptional phase produces ADHD-like behaviors in the rat offspring. Sprague-Dawley (SD) female rats were administrated ethanol via intragastric intubation with dosing regimen of 6 g/kg daily for 10 consecutive days and treated female rats then mated with non-treated male SD rats after 8 weeks. Another group subjected to the same procedure as those conducted on ethanol treated group except the saline administration instead of ethanol. Offspring was tested for their ADHD-like behaviors using open field test, Y maze test and impulsivity test that is performed in the aversive electronic foot shock paradigm. Offspring of preconceptional ethanol treated (EtOH) group showed hyperlocomotive activity, attention deficit and impulsivity. And reduction of striatal dopamine transporter (DAT) level was observed by Western blot in the EtOH group, compared to control (Con) group, while the immunohistochemical analysis exhibited increased expression of norepinephrine transporter (NET) in the frontal cortex. These results suggest that maternal ethanol consumption in the preconceptional phase induces ADHD-like behaviors in offspring that might be related to the abnormal expression of DAT and NET in rat.

• Korean Journal of Organic Agriculture
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• v.19 no.1
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• pp.121-134
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• 2011

For this study, Smilex powder, a pesticide, was sprayed on the Altari radish, and then underground water, Chitosan solution (${\times}$500), and wood vinegar solution (${\times}$1000) were evenly sprayed on the Altari radish respectively. Samples of Altari radishs for residual pesticide analysis were taken two hours, 1 day, 7 days, and 15 days after treatments, and the detectable concentration and degradability of procymidone, the pesticide residue, were measured. The results obtained are as follows: 1. When detectable concentration of procymidone within the altari radish was measured, treatment plots sprayed with underground water, Chitosan solution (${\times}$500), and wood vinegar solution (${\times}$1000) were found to show lower detectable concentration than the non-treatment plot which was sprayed with pesticide only. Especially, the treatment plots sprayed with Chitosan solution (${\times}$500), and with wood vinegar solution (${\times}$1,000) showed lower values than the average. 2. When the degradability of procymidone within the Altari radish was measured, the plot treated with Chitosan solution (${\times}$500) and the plot treated with wood vinegar solution (${\times}$1,000) were found to have relatively higher degradability of procymidone. There were not much differences among testing materials in the degradability of residual pesticides. However, the plot treated with Chitosan solution (${\times}$500) showed higher degradability. In terms of average degradability with time, degradability increased sharply 7 days after the foliar application of testing materials. 3. When the daily far-sighted view survey was conducted in order to find out growth disorder and damage on the Altari radish plants by the treatment of un-derground water, Chitosan solution (${\times}$500), and wood vinegar solution (${\times}$1,000), no symptomatic physiological disorders was observed on all the plants tested during the whole growing season at the tested concentration level.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.40-43
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive mitochondrial disorder of fatty acid oxidation associated with mutations in the ACADS gene. While patients diagnosed clinically have a variable clinical presentation, patients diagnosed by newborn screening are largely asymptomatic. We describe here the case of a 1-year-old male patient who was detected by newborn screening and diagnosed as SCAD deficiency. Spectrometric screening for inborn errors of metabolism at 72hrs after birth showed elevated butyrylcarnitine (C4) level of 1.69 mol/L (normal, <0.83 mol/L), C4/C2 ration of 0.26 (normal, <0.09), C5DC+C60H level of 39 mol/L (normal, <0.28 mol/L), and C5DC/C8 ration of 7.36 (normal, <4.45). The follow-up testing at 18 days of age were performed: liquid chromatography tandem mass spectrometry (LC-MS/MS), urine organic acids, and quantitative acylcarnitine profile. C4 carnitine was elevated as 0.91; urine organic acid analysis showed elevated ethylmalonic acid as 62.87 nmol/molCr (normal, <6.5), methylsuccinate 6.81 nmol/molCr (normal, not detected). Sequence analysis of ACADS revealed a homozygous missense mutation, c.164C>T (p.Pro55Leu). He is growing well and no episodes of seizures or growth retardation had occurred.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.35-39
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• 2015

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which is inherited as an autosomal recessive pattern. MCAD deficiency is caused by mutations in the ACADM gene; medium-chain acyl-CoA dehydrogenase gene (ACADM; OMIM 607008) on chromosome 1p31 which encodes MCAD, the mitochondrial enzyme which catalyzes the first reaction in beta-oxidation of fatty acids with medium-chain length. Here, we describe one Korean pediatric case of MCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, and C8/C2 ratio was elevated. Homogenous c.1189T>A (p.Tyr397Asn) mutation of ACADM gene was identified by direct sequencing. He has been asymptomatic and has shown normal growth and development by 25 months of age without any intervention. There was no episode of metabolic acidosis during follow-up period.