• 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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.12 no.2
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• pp.150-155
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• 2009

Purpose: The aim of this study was to evaluate observed changes in the prevalence of biopsy-proven Helicobacter pylori infection in Korean children with functional recurrent abdominal pain during the past 18 years. Methods: Between July 1991 and December 2008, 1,194 children with functional recurrent abdominal pain (499 males and 695 females) 9.2${\pm}$3.1 years of age were included. Upper gastrointestinal endoscopies were performed in all patients. H. pylori infection was assessed by the CLO test. Changes in the prevalence of the endoscopic diagnosis of H. pylori infection during 18 years were analyzed. Results: The prevalence of H. pylori infection between 1991 and 1993, 1994 and 1996, 1997 and 1999, 2000 and 2002, 2003 and 2005, and 2006 and 2008 were 25.1% (56/223), 23.1% (45/195), 19.3% (28/145), 16.1% (39/242), 11.3% (24/213), and 10.8% (19/176), respectively; these serial decreases in the prevalence over 18 years were statistically significant (p<0.001). Regardless of gender and age, the prevalence of H. pylori infection decreased. This decrease was inversely related to socioeconomic improvement as represented by the per capita gross national income growth of Korea. Conclusion: The prevalence of H. pylori infection has decreased significantly for the past 18 years in Korean children. This decrease might be caused by an improvement in socioeconomic status.

• Journal of Life Science
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• v.21 no.6
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• pp.893-900
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• 2011

Prostatic acid phosphatase (PAP) is one of the widely used biomarkers in the diagnosis of prostate cancer. It was initially identified in 1935 and is the most abundant phosphatase in the human prostate. PAP is a prostate-specific enzyme that is synthesized in prostate epithelial cells. It belongs to the acid phosphatase group that shows enzymatic activity in acidic conditions. PAP is abundant in prostatic fluid and is thought to have a role in fertilization and oligospermia. It also has a potential role in reducing chronic pain. But one of the most apparent functions of PAP is the dephosphorylation of macromolecules such as HER-2 and PI3P that are involved in the ERK1/2 and MAPK pathways, which in turn leads to inhibition of cell growth and tumorigenesis. Currently, clinical trials using PAP DNA vaccine are underway and FDA-approved immunotherapy using PAP is commercially available. Despite these clinically important aspects, molecular mechanisms underlying PAP regulation are not fully understood. The promoter region of PAP was reported to be regulated by NF-${\kappa}B$, TNF-${\alpha}$, IL-1, androgen and androgen receptors. Here, the features of PAP gene and protein structures together with the function, regulation and roles of PAP in prostate cancer are discussed.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.141-147
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• 2016

Hypophosphatasia is caused by the mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). It can be inherited either in an autosomal dominant or recessive manner. Clinically, hypophophosphatasia is characterized by skeletal findings similar to those in rickets or osteomalacia, but serum alkaline phosphatase levels are decreased in the affected patients. Hypophosphatasia can be classified into six clinical forms according to age at diagnosis and severity of symptoms: perinatal lethal, infantile, childhood, adult, odontohypophosphatasia, and perinatal benign. As being a very rare disease, only one case has been reported in Korean population. Here we describe a case with perinatal benign hypophosphatasia with recessive ALPL mutations. Bowing of lower legs was detected in prenatal period and low serum alkaline phosphatase level was noted after birth. During the follow-up evaluation for 4.5 years, bone mineralization and legs bowing were improved but the growth retardation was persistent. As the recombinant bone-targeted human TNSALP became available, the clinical improvement of the affected patients is expected including the case described here with this treatment. More efforts are needed to identify the cases affected by hypophosphatasia.

• 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.

• Korean Journal of Veterinary Research
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• v.40 no.1
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• pp.173-186
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• 2000

This experiment was carried out to investigate the tendency of incident diseases in pre- and post- weaning piglets which ages were 1 to 7 weeks old by laboratory diagnosis and in order to minimize death in preweaning piglets and of stunted growth in postweaning piglets. The result of this experiment used as the basic data for the preventive programs in pre- and post- weaning piglets and were as follows: 23 different diseases diagnosed in 331 cases were studied in relation to age, season, and etiology. The most prevelent diseases of pre- and post- weaning piglet were Colibacillosis(79 case, 23.9%) and the major diseases were Salmonellosis(44 cases, 13.3%), Anemia(37 cases, 11.2%). Unknown viral disease(20 case, 6.1%), Rota viral infection(19 case, 5.8%), Porcine reproductive & respiratory syndrome(PRRS; 15 case 4.5%), Transmissible gastroenteritis(TGE; 12 case, 3.6%). The gastrointestinal disease, such as Colibacillosis, Salmonellosis, Swine dysentery, Clostridial infection, Rotaviral infection, TGE, Porcine epidemic diarrhea(PED) and Ballantidiosis occured pro- dominently in the period of pre- and post- weaning, which were 178 cases(53.8%) and not related to occurrence according to age and season. The respiratory diseases were Atrophic rhinitis(AR), Swine enzootic pneumonia, Pneumonic pasteurellosis, Pleuropneumonia, Branchopneumonia, PRRS and which were 48 cases(14.5%) and higher prevalent in spring and summer. The viral diseases was 73 cases(22.1%) that occurred in the period of 5 weeks piglet and prevalent mainly in spring. The bacterial diseases were 188 cases(56.8%) that were not related to occurrence according to age and season. Salmonellosis was prevalent in 3 to 5 weeks piglet and mainly occurred in summer. Viral septicemia and rotaviral infection occurred after 5 weeks piglets intensively and 3 to 5 weeks, respectively. And the both occurred without relation with season. PRRS occurred after 4 weeks piglet and prevalent in summer. TGE occurred 1 to 7 days old piglets and prevalent in spring and winter. Hematologic values of anemia was decrease in number of Red Blood Cell, concentration of Hemoglobin and Hematocrit. Amikacin, cephalothin, colistin, norfloxacin were effective to E coli, and amikacin, cephalothin, nortloxacin, neomycin were effective to Salmonellra spp. but clindamycin, erythromycin, penicillin, sulfonamides were resistant to E coli and Salmonella spp.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.186-190
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• 2014

Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intraphepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset CTLN2. Clinical manifestations of NICCD include poor growth, intrahepatic cholestasis, liver dysfunction and increased plasma citrulline, methionine, threonine, arginine. The molecular diagnosis could be confirmed by SLC25A13 gene mutation analysis. A 3-month-old male infant with persistent jaundice was referred for evaluation. Newborn screening was normal at birth. Mild elevation of serum ammonia and AST/ALT were observed. Plasma amino acid analysis showed significantly elevated citrulline, methionine, threonine. DNA sequence analysis of the SLC25A13 gene revealed two compound heterozygous mutations, c.[852_855del]($p.Met285Profs^*2$) and [1180+1G>A]. We suggest that NICCD should be considered as one of the cause of in infants with cholestatic jaundice, although the newborn screening was normal.

• Journal of Chest Surgery
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• v.46 no.5
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• pp.340-345
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• 2013

Background: This study aims to evaluate whether or not the method of right vertical axillary minithoracotomy (RVAM) is preferable to and as reliable as conventional sternotomy surgery, and also assesses its cosmetic results. Methods: Thirty-three patients (7 males, 26 females) with atrial septal defect were admitted to the Cardiovascular Surgery Clinic of Cukurova University from December 2005 until January 2010. The patients' ages ranged from 3 to 22. Patients who underwent vertical axillary minithracotomy were assigned to group I, and those undergoing conventional sternotomy, to group II. Group I and group II were compared with regard to the preoperative, perioperative and postoperative variables. Group I included 12 females and 4 males with an average age of $16.5{\pm}9.7$. Group II comprised 14 female and 3 male patients with an average age of $18.5{\pm}9.8$ showing similar features and pathologies. The cases were in Class I-II according to the New York Heart Association (NYHA) Classification, and patients with other cardiac and systemic problems were not included in the study. The ratio of the systemic blood flow to the pulmonary blood flow (Qp/Qs) was $1.8{\pm}0.2$. The average pulmonary artery pressure was $35{\pm}10$ mmHg. Following the diagnosis, performing elective surgery was planned. Results: No significant difference was detected in the average time of the patients' extraportal circulation, cross-clamp and surgery (p>0.05). In the early postoperative period of the cases, the duration of mechanical ventilator support, the drainage volume in the first 24 hours, and the hospitalization time in the intensive care unit were similar (p>0.05). Postoperative pains were evaluated together with narcotic analgesics taken intravenously or orally. While 7 cases (43.7%) in group I needed postoperative analgesics, 12 cases (70.6%) in group II needed them. No mortality or major morbidity has occurred in the patients. The incision style and sizes in all of the patients undergoing RVAM were preserved as they were at the beginning. Furthermore, the patients of group I were mobilized more quickly than the patients of group II. The patients of group I were quite pleased with the psychological and cosmetic results. No residual defects have been found in the early postoperative period and after the end of the follow-up periods. All of the patients achieved functional capacity per NYHA. No deformation of breast growth has been detected during 18 months of follow-up for the group I patients, who underwent RVAM. Conclusion: To conclude, the repair of atrial septal defect by RVAM, apart from the limited working zone for the surgeon in these pathologies as compared to sternotomymay be considered in terms of the outcomes, and early and late complications. And this has accounted for less need of analgesics and better cosmetic results in recent years.

• Development and Reproduction
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• v.18 no.4
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• pp.197-212
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• 2014

Osteosarcoma (OS) is one of the most common malignant primary bone tumors and NF-${\kappa}B$ appears to play a causative role, but the mechanisms are poorly understood. OS is one of the pleomorphic, highly metastasized and invasive neoplasm which is capable to generate osteoid, osteoclast and osteoblast matrix. Its high incidence has been reported in adolescent and children. Cell signal cascade is the pivotal functional mechanism acquired during the differentiation, proliferation, growth and survival of the cells in neoplasm including OS. The major limitation to the success of chemotherapy in OS is the development of multidrug resistance (MDR). Answers to all such queries might come from the knock-in experiments in which the combined approach of miRNAs with NF-${\kappa}B$ pathway is put into use. Abnormal miRNAs can modulate several epigenetical switching as a hallmark of number of diseases via different cell signaling. Studies on miRNAs have opened up the new avenues for both the diagnosis and treatment of cancers including OS. Collectively, through the present study an attempt has been made to establish a new systematic approach for the investigation of microRNAs, bio-physiological factors and their target pairs with NF-${\kappa}B$ to ameliorate oncogenesis with the "bridge between miRNAs and NF-${\kappa}B$". The application of NF-${\kappa}B$ inhibitors in combination with miRNAs is expected to result in a more efficient killing of the cancer stem cells and a slower or less likely recurrence of cancer.

• Korean Journal of Agricultural and Forest Meteorology
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• v.21 no.4
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• pp.261-268
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• 2019

Climate change and drought stress are having profound impacts on crop growth and development by altering crop physiological processes including photosynthetic activity. But finding a rapid, efficient, and non-destructive method for estimating environmental stress responses in the leaf and canopy is still a difficult issue for remote sensing research. We compared the relationships between photochemical reflectance index(PRI) and various optical and experimental indices on soybean drought stress under climate change conditions. Canopy photosynthesis trait, biomass change, chlorophyll fluorescence(Fv/Fm), stomatal conductance showed significant correlations with midday PRI value across the drought stress period under various climate conditions. In high temperature treatment, PRI were more sensitive to enhanced drought stress, demonstrating the negative effect of the high temperature on the drought stress. But high CO₂ concentration alleviated the midday depression of both photosynthesis and PRI. Although air temperature and CO₂ concentration could affect PRI interpretation and assessment of canopy radiation use efficiency(RUE), PRI was significantly correlated with canopy RUE both under climate change and drought stress conditions, indicating the applicability of PRI for tracking the drought stress responses in soybean. However, it is necessary to develop an integrated model for stress diagnosis using PRI at canopy level by minimizing the influence of physical and physiological factors on PRI and incorporating the effects of other vegetation indices.