Recently, a large number of clinical experiments have shown that exposure of organic pollutants lead to various cancers through the abnormal cell growth. Environmental pollutants, such as 2, 3, 7, 8-Tetrachloro dibenzo-p-dioxin (TCDD) and polycyclic aromatic hydrocarbons (PAHs), are carcinogen and are known to cause the cognitive disability and motor dysfunction in the developing of brain. The effects of these pollutants on neurodevelopmental disorder is well established, but the underlying mechanism(s) and similarity of gene expression profiles in human brain tumors with organic pollutants still remain unclear. In this study, we first examined the gene expression profiles in glioblastomas compared with meningioma that are kinds of primary human brain tumor by using human cDNA microarray. The results of cDNA microarray analysis revealed that 26 genes were upregulated (Z-ratio>2.0) and 14 genes were downregulated (Z-ratio<-2.0) in glioblastoma compared with meningioma. From the altered gene patterns, mitogen-activated protein kinase (MAPK) signaling related genes, such as MAP2K3, MAP3K11 and jun activated domain binding protein, and transcription factors, such as UTF2 and TF12, were upregulated in glioblastoma. Also, we tried to investigate the relation between important genes up- and down-regulated in giloblastoma and various organic pollutants. Therefore, the identification of changes in the patterns of gene expression may provide a better understanding of the molecular mechanisms involved in human primary brain tumors and of the relation between gene expression profiles and organic pollutants in brain tissue.
Kim, Seong Wan;Jang, Ju Young;Lee, Jang Hoon;Sohn, Young Bae;Jang, Ja-Hyun
Journal of The Korean Society of Inherited Metabolic disease
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v.20
no.1
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pp.24-28
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2020
Type III Glycogen storage disease (Type III GSD, OMIM#232400) is a genetic metabolic disorder in which undigested glycogen accumulates in the organs due to lack of glycogen debranching enzyme caused by AGL mutation. The clinical symptoms of type III GSD include hepatomegaly, delayed growth, hypoglycemia and muscle weakness. These clinical symptoms are similar to those of other types of GSD, making it difficult to distinguish clinically. The authors report a case of type III GSD diagnosed by gene panel sequencing. A 11-month old male patient was presented with hepatomegaly. In liver biopsy, glycogen was accumulated in hepatocytes, suggesting GSDs. For differential diagnosis of types of GSD, gene panel sequencing for GSDs was performed. As a result, two novel pathogenic compound heterozygous variants: c.311_312del (p.His104Argfs*15) and c.3314+1G>A in AGL were detected and the patient was diagnosed as type III GSD. After diagnosis, he started dietary treatment with cornstarch, and has been free from complications. After two years, two same variants were also identified in the chorionic villous sampling of the pregnant mother, and the fetus was diagnosed as type III GSD. Gene panel sequencing is useful for diagnosis of disease which is indistinguishable by clinically and has high genetic heterogeneity, such as GSD. After diagnosis, familial genetic analysis can provide adequate genetic counseling and rapid diagnosis.
Soil environmental conditions can affect nutrient availability during growth stage of tree fruit. We investigated the cause of disorderd fruit by the influence of soil chemical properties in orchard soil, composition of mineral nutrient in leaves and fruit to occur physiological disorderd fruit at four locations (Ulsan, Gyeongju, Pyeongtaek, Ansung) compared to healthy. There were significantly different (P=0.05) in exchangeable Ca, K, Mg and total nitrogen content in orchard soil between physiological disordered fruit and healthy fruit. The exchangeable Ca content in orchard soil caused by physiological disordered fruit was statistically lower than that of healthy fruit. However, exchangeable K, Mg and total nitrogen contents were higher than that healthy (P=0.05). There was a significant difference (P=0.05) in Ca content between physiological disordered fruit and healthy. Ca content in fruit flesh of physiological disorderedfruit was statistically lower than that of healthy. The physiological disordered fruit was a higher ratio of Mg/Ca in fruit flesh and peel compared to healthy fruit and also the ratios of N/Ca and K/Ca in a leaf were higher. The negative correlation between Ca and K, and Ca and Mg was detected in the fruit flesh of physiological disordered fruit. Therefore, we concluded that insufficient Ca content in fruit may cause 'the physiological disorder' pomelo disease and high content of N, exchangeable K and Mg ion in the soil solution might be disturbs exchangeable Ca ion to be absorbed in fruit.
Mathias, Luciana Da Silva;Almeida, Joao Carlos De Aquino;Passoni, Luis Cesar;Gossani, Cristiani Miranda David;Taveira, Gabriel Bonan;Gomes, Valdirene Moreira;Vieira-Da-Motta, Olney
Journal of Microbiology and Biotechnology
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v.30
no.4
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pp.540-551
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2020
Sporotrichosis is a chronic and subacute mycosis causing epidemiological outbreaks involving sick cats and humans in southeastern Brazil. The systemic disease prevails in cats and in humans, with the symptoms restricted to the skin of immunocompetent individuals. Under these conditions, the prolonged treatment of animals and cases of recurrence justify the discovery of new treatments for sporotrichosis. This work addresses the antifungal activity of silver salts of Keggin-type heteropolyacid salts (Ag-HPA salts) such as Ag3[PW12O40], Ag6[SiW10V2O40], Ag4[SiW12O40] and Ag3[PMo12O40] and interactions with the antifungal drugs itraconazole (ITC), terbinafine (TBF) and amphotericin B (AMB) on the yeast and mycelia forms of Sporothrix spp. Sporothrix spp. yeast cells were susceptible to Ag-HPA salts at minimum inhibitory concentration (MIC) values ranging from 8 to 128 ㎍/ml. Interactions between Ag3[PW12O40] and Ag3[PMo12O40] with itraconazole and amphotericin B resulted in higher antifungal activity with a reduction in growth and melanization. Treated cells showed changes in cell membrane integrity, vacuolization, cytoplasm disorder, and membrane detachment. Promising antifungal activity for treating sporotrichosis was observed for the Ag-HPA salts Ag3[PMo12O40] and Ag3[PW12O40], which have a low cost, high yield and activity at low concentrations. However, further evaluation of in vivo tests is still required.
Total parenteral nutrition (TPN) is necessary to neonates in neonatal intensive care unit (NICU) for survival and growth because of impossible of enteral feeding. Long-term TPN can be associated with a broad spectrum of hepatobiliary disorder, ranging from mild hepatic dysfunction to severe end-stage liver disease. Cholestasis developed most commonly in neonate, ursodeoxycholic acid (UDCA) is widely used in adult with cholestatic and non-cholestatic liver diseases but there have been limited data on the effects in neonate with PNAC. This study was performed retrospectively to review all medical histories of the total 30 neonates with was administrated UDCA for treatment to parenteral nutrition associated cholestasis (PNAC) at Chungbuk National University Hospital NICU from April 2002 to December 2008. UDCA was administrated at bilirubin is over 2 mg/dl. The criterias for drug evaluation were included hepatic biochemical marker such as direct bilirubin, total bilirubin, AST, ALT, ALP and GGT, TPN therapy period, cholestasis development period, UDCA treatment period, UDCA dosage and adverse effect. In the results, Post-UDCA treatment significant was decreased direct bilirubin, total bilirubin, AST and ALP (p<0.05), and was decreased GGT (p>0.05) and slightly was increased ALT (p>0.05). Reffective timect biDCA was appear at mean $10.5{\pm}1.3$ days, iDCA administration period was mean $64.4{\pm}5.9$ days, cholestasis period was mean $71.9{\pm}6.4$ days and UDCA dosage was mean $22.9{\pm}0.9$ mg/kg/day. Common adverse effects is diarrhea, 5 patients arised mild diarrhea but it possible also related with increased enteral feeding. In conclusion, iDCA can decrease direct bilirubin that major parameter t bcholestasis and oher hepatic biochemical makers. UDCA is effective on PNAC without any serious side effect and cost-effective. Although no greatly shortening cholestasis period, but can protect to develop into severe liver disease and other complication or death. Based on these result, UDCA is recommended for treatment of cholestasis at direct bilirubin is over 2 mg/dl.
Journal of the korean academy of Pediatric Dentistry
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v.35
no.4
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pp.766-770
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2008
Gingival fibromatosis is a rare condition characterized by varying degrees of gingival hyperplasia. Gingival fibromatosis usually occurs as an isolated disorder or can be associated with a variety of other syndromes. It usually appears at the time of eruption of permanent dentition but, can develop at the time of eruption of the primary dentition and rarely at birth. It may deform palatal contour and subsequently restrict the tongue movement, resulting in interference during speech and mastication. In addition, it incapacitates maintenance of normal lip closure. A 14-month-old girl visited the department of pediatric dentistry, Yonsei University Dental Hospital, for the congenital gingival overgrowth. There was no one in the family, who showed similar pattern of gingival growth. The intraoral clinical examination revealed generalized severe gingival enlargement throughout the maxillary and the mandibular arches. Enlarged gingival tissue was pink and had firm consistency. She was referred for chromosomal analysis, which confirmed absence of any known syndrome. Under local anesthesia, "Punch-biopsy" was performed on the labial area, and the specimen was histologically diagnosed as gingival fibromatosis. For she did not have any medical problem nor familiar history, she was diagnosed as having idiopathic gingival fibromatosis. Regarding her age and behavior, close follow-up was decided.
Fruit cracking of sweet cherry fruit due to rain near harvest is a major source of crop loss in the cherry industry. The objection of this study was to understand the sweet cherry fruit cracking. Depending on the year, the disorder is characterized by a cracking of the outside layer of the cherry skin, as called cuticle. The crackings were appeared around the stem end, where water could accumulate, but was also seen fruit side or apical end. The cracking was observed mostly in the fruit apical end in 2004 and around the stem end in the other years. It had more rainfall at early season of fruit growth, early May, in 2004 and 2006 compared to other years. Those years showed higher rates of the fruit cracking occurrence. The hypodermal layer was examined on cracking susceptible cultivar, 'Sato Nishiki' from young to mature fruit cuticle. The hypodermal layers of the stem end area were decreased by one to two layers and fruit apical end area was cracked as fruit development. When fruits were immersed in distilled water, the larger fruit (> 6 g) had more cracking ratio than smaller fruits (< 4.5 g).
Kim, Ji-Hee;Park, Hyun-Young;Kim, Dae-Won;Byun, Seung-Jae;Moon, Hyo-Jeong;Lee, In;Yang, Chung-Yong
Journal of Physiology & Pathology in Korean Medicine
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v.26
no.3
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pp.399-407
/
2012
To evaluate age and gender differences in the relation of cardiovascular risk factors, cognitive impairment, and subclinical carotid atherosclerosis from aged people using by a cross sectional method. Sixty-nine healthy elders living in the community who had not previously undergone carotid ultrasonography were included. We conducted life style surveys, and cognitive function tests including Korean-mini-mental state examination (K-MMSE) and clinical dementia rating-Korean. Various biomarkers from blood were assessed; fasting insulin-like growth factor-1, lipid-profile, high sensitivity C-reactive protein, total homocysteine, glucose, insulin, Homeostasis model assessment (HOMA) for insulin resistance index, vitamin B12, and folate level. Carotid intima-media thickness (C-IMT), and plaques were measured using carotid ultrasonography and aortic ultrasonography, a valid index of atherosclerosis. For the elderly subjects (aged 65-82 years), cognition impairment was more prevalent in females while subclinical atherosclerosis was more prevalentin males. Increased C-IMT has been kept in males, and C-IMT shows increasing trend and the peak at about 80 year-old in females with increasing age. The significant correlations between C-IMT and many vascular risk factors including age, triglyceride, abnormal homocysteinein male, and K-MMSE, insulin, HOMA index and abnormal aortic ultrasonography in female were different in each gender, with the exception of homocysteine (p<0.05). This data suggests that there were differences of age and gender characteristics in terms of subclinical atherosclerosis, cognitive impairment and vascular risk factors in community-living elders. Further larger and longitudinal studies across entire age are required to better understand the effects of risk factors on subclinical atherosclerosis.
Background: The epidermal growth factor (EGF) plays important roles in non-small cell lung cancer (NSCLC) susceptibility and functional polymorphism in the EGF (+61A/G) gene has been linked to increased risk of NSCLC. This study aimed to evaluate the role of the EGF +61A/G polymorphism in risk of NSCLC adenocarcinoma (ADC) occurrence and survival in an Indian population. Materials and Methods: This casecontrol study included 100 histopathologically confirmed NSCLC (ADC) patients and 100 healthy controls. EGF (A61G) was genotyped by AS-PCR to elucidate putative associations with clinical outcomes. The association of the polymorphism with the survival of NSCLC patients was estimated by Kaplan-Meier curves. Results: It was found that EGF 61AG heterozygous and GG homozygous genotype is significantly associated with increased risk of NSCLC (ADC) occurrence compared to AA genotype, [OR 2.61 (1.31-5.18) and 3.25 (1.31-8.06), RR 1.51(1.15-2.0) and 1.72 (1.08-2.73) and RD 23.2 (6.90-39.5) and 28.53(7.0-50.1) for heterozygous AG (p=0.005) and homozygous GG (p=0.009)]. Patients homozygous for the G allele exhibited a significantly poor overall survival. The median survival time for patients with EGF 61 AA, AG, and GG genotypes was 10.5, 7.4, and 7.1 months (p=0.02), respectively. NSCLC (ADC) patients with GG + AG exhibited 7.3 months median survival compared to the AA genotype (p=0.009). Conclusions: The present study revealed that the EGF A61G genotype may be a novel independent prognostic marker to identify patients at higher risk of occurrence and an unfavourable clinical outcome.
Kim, Mi Sun;Lee, Soo Eon;Ahn, Hyo Jung;Park, Jae-Hong;Choi, Sung Chul
Journal of The Korean Dental Society of Anesthesiology
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v.13
no.1
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pp.13-18
/
2013
CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.
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