Kim, Yoo-Mi;Lim, Han Hyuk;Gang, Mi Hyeon;Lee, Yong Wook;Kim, Sook Za;Kim, Gu-Hwan;Yoo, Han-Wook;Ko, Jung-Min;Chang, Meayoung
Journal of Genetic Medicine
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v.16
no.2
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pp.85-89
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2019
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.
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.
A transport stress is one of the main causes of economic losses and physiological dysfunction. The present study has been performed to suggest a method to decrease the adverse effects above mentioned from transport. The groups were prepared as follows; (1) Control group : 4 cattle transported for 5 hrs (274 km) without any treatment, (2) Treatment group : 4 cattle treated with electrolyte-mineral solution (I.V.) at 1 hr before the enrollment of transport under same experimental condition with Control group. The blood specimens were collected at 1 hr before transport, 2.3 hrs (135 km) and 5 hrs (274 km) after the enrollment of transport, and 1, 6 and 18 hrs after fulfillment of transport. The collected blood specimens were analyzed for cortisol and epinephrine. Core temperature and heart rate were measured with active biotelemetry in every 30 minutes from 0.5 hr before the start of transport to 18 hrs after the end of transport. In results, the level of cortisol considerably increased to the peak either in Control group ($5.3{\pm}1.3{\mu}g/d{\ell}$) and in Treatment group ($4.0{\pm}2.6{\mu}g/d{\ell}$) at 2.3 hrs in transport. The concentration of epinephrine of Treatment group had been higher than that of Control group from the start of transport to 18 hrs after the fulfillment of transport. Particularly there was the biggest gap between Control and Treatment groups, $424.0{\pm}194.1pg/m{\ell}$ and $209.1{\pm}65.1pg/m{\ell}$ respectively, at 6 hrs after the end of transport. The heart rates were considerably increased either in Control group ($81.5{\pm}18.5$ to $126.3{\pm}7.8beats/min$) and in Treatment group ($114.3{\pm}14.4$ to $140.8{\pm}22.4beats/min$) with the enrollment of transport. These results indicate that the concentration of cortisol and the heart rate were pertinent to cognitive parameters to evaluate physiological responses against stress such as transport. In addition, the intravenous administration of electrolyte-mineral solution could be suggested as the method to decrease the adverse effects from a transport stress.
Park, Hee-Rae;Park, Pyongwoon;Song, Giwon;Lim, Giyong
Journal of the Korea Academia-Industrial cooperation Society
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v.16
no.1
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pp.462-470
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2015
This study examined for which socio-economic difference effects on brain function and Problem behavior syndrome in children. About a children with no disorders, diseases or cognitive dysfunction-30 were from LIC children and another 30, from MC ones, the study was conducted by measuring and analyzing the data using brain function analysis and K-CBCL from January to April, 2013. The results of the study are as follows. First, it was found that the ratio of LIC's theta(${\Theta}$) and SMR waves and that of delta(${\delta}$), high beta(${\beta}h$), alpha(${\alpha}$) and low beta(${\beta}l$) waves showed significantly higher values than MC children. Second, concerning the symptoms of child behavioral problems, LIC showed significantly higher values than MC children in symptoms of the body, depression and anxiety, social immaturity, thinking problems, attention problems, aggression, internalization, externalization, overall behavioral problems, and emotional instability. MC children showed significantly higher values than LIC chidren in symptoms of social, academic-performance, total social skills. In conclusion, the significant difference of the brain functions and the symptoms of child behavioral problems between LIC and MC children showed that the socio-ecnomic difference has an influence on the same functions and symptoms above.
Kim, Se-Hee;Han, Doug-Hyun;Na, Churl;Min, Kyung-Joon;Joo, So-Youn
Korean Journal of Psychosomatic Medicine
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v.17
no.1
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pp.30-36
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2009
Objectives : Thyroid function is associated with psychiatric disturbance such as mood symptoms, cognitive functions, anxiety and sleep problem. We evaluate the effects of thyroid dysfunction on negative symptoms of schizophrenia, mood symptoms and somatic symptoms in patients with schizophrenia. Methods : Sixty five patients with schizophrenia were recruited. The patients were classified into two groups; the patients with the history of abnormal thyroid indices level(group of abnormal thyroid function) and the patients without the history of normal thyroid indices level(group of normal thyroid function). At baseline and 8 weeks later, psychiatric symptoms were assessed with the Scale for the Assessment of Negative Symptoms (SANS), the Scale for the Assessment of Positive Symptoms(SAPS), and Beck Depression Inventory(BDI), Somatosensory Amplication Scale(SSAS). Results : During 8 weeks, there were significant differences in the changes of SANS, BDI, SSAS between group of abnormal thyroid function and group of normal thyroid function. Compared to group of normal thyroid function, group of abnormal thyroid function showed greater reduction of the scores of SANS(23.3%), BDI (19.6%), and SSAS(16.2%), respectively. However, there was no significant correlation between the scores of SANS, BDI, and SSAS. Conclusion : Our study suggested that abnormal thyroid indices would predict the prognosis of negative symptoms, mood symptoms, and somatic symtpoms in patients with schizophrenia.
This study was attempted to investigate reliability and validity of premenstrual assessment form(PAF). PAF was administered to 230 high school students who had reported premenstrual changes. PAF revealed considerable diversity in premenstrual symtom changes of the subjects. The items with most frequent reported premenstrual changes were 21 items out of 95. Cronbach's internal consistency was .95, and test-retest reliability was .80. Validity test was performed by constructional validation analysis. 8 factors(impulsive & unstable factor, depressive factor, withdrawal & social functioning impairment factor, anxiety & cognitive dysfunction factor, physiological factor, general discomfort factor, increased well-being factor, other factor) emerged at factor analysis. Each of them accounted for 33.97, 5.10, 3.70, 2.93, 2.64, 2.46, 2.12, 2.03 of total variance respectively. High school students experienced impulsive & unstable features of premenstrual symptoms more frequently. This study suggests PAF can be a reliable and valid tool as a initial screening and evaluation of premenstrual changes. finally, factor analysis result was compared with PAF typological categories.
Background: The present study was undertaken to evaluate the incidence of chronic persistent post-surgical pain (CPPP) and the role of signal transduction genes in patients undergoing staging laparotomy for carcinoma ovary. Methods: The present observational study was undertaken following institutional ethical committee approval and informed consent from all the participants. A total 21 patients of ASA grade I to III with age 20-70 years, scheduled for elective staging laparotomy for carcinoma ovary were included. Patients were excluded if had other causes of pain, cognitive dysfunction or chronic neurological disorders. Statistical analysis of pool data was done using SPSS version-17. For various scales like GPE, PDQ, NPSI, the visual analogue scale (VAS), global perceived effect (GPE), the pain DETECT questionnaire (PDQ), and neuropathic pain symptoms inventory (NPSI), one factor repaeted measure ANOVA applied with simple contrast with baseline as on post-operative day 1 (considered as reference and compared with subsequent time-interval), and the P values were adjusted according to "Bonferroni adjustments". In patients with CPPP, the ${\Delta}ct$ values of mRNA expressions of genes at the end of postoperative day 90 were compared with the baseline control values by one factor repeated ANOVA. P value < 0.005 significant. Results: The present study demonstrates 38.1% (8 out of 21 patients) incidence of CPPP. The functional status and quality of life as were observed to be significantly diminished in all patients with chronic pain. An up-regulation in the mRNA expression of signal transduction and a positive correlation was noted between the mRNA expression of signal transduction genes and VAS score in all patients with CPPP at the end of postoperative day 90. Conclusions: The reported incidence of CPPP in patients with carcinoma ovary was 38.1%. An up-regulation and positive correlation between mRNA expression of signal transduction genes and VAS score depicts its potential role in the pathogenesis of CPPP.
Elevated plasma homocysteine (Hcy) is a risk factor for cognitive dysfunction and Alzheimer disease, although the mechanism is still unknown. Both folate and betaine, a choline metabolite, play essential roles in the remethylation of Hcy to methionine. Choline deficiency may be associated with low folate status and high plasma Hcy. Alterations in DNA methylation also have established critical roles for methylation in development of the nervous system. This study was undertaken to assess the effect of choline and folate deficiency on Hcy metabolism and genomic DNA methylation status of the liver and brain. Groups of adult male Sprague Dawley rats were fed on a control, choline-deficient (CD), folate-deficient (FD) or choline/folate-deficient (CFD) diets for 8 weeks. FD resulted in a significantly lower hepatic folate (23%) (p<0.001) and brain folate (69%) (p<0.05) compared to the control group. However, plasma and brain folate remained unaltered by CD and hepatic folate reduced to 85% of the control by CD (p<0.05). Plasma Hcy was significantly increased by FD $(18.34{\pm}1.62{\mu}M)$ and CFD $(19.35{\pm}3.62{\mu}M)$ compared to the control $(6.29{\pm}0.60{\mu}M)$ (p<0.001), but remained unaltered by CD. FD depressed S-adenosylmethionine (SAM) by 59% (p<0.001) and elevated S-adenosylhomocysteine (SAM) by 47% in liver compared to the control group (p<0.001). In contrast, brain SAM levels remained unaltered in CD, FD and CFD rats. Genomic DNA methylation status was reduced by FD in liver (p<0.05) Genomic DNA hypomethylation was also observed in brain by CD, FD and CFD although it was not significantly different from the control group. Genomic DNA methylation status was correlated with folate stores in liver (r=-0.397, p<0.05) and brain (r = -0.390, p<0.05), respectively. In conclusion, our data demonsoated that genomic DNA methylation and SAM level were reduced by folate deficiency in liver, but not in brain, and correlated with folate concentration in the tissue. The fact that folate deficiency had differential effects on SAM, SAH and genomic DNA methylation in liver and brain suggests that the Hcy metabolism and DNA methylation are regulated in tissue-specific ways.
Journal of the korean academy of Pediatric Dentistry
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v.47
no.1
/
pp.93-98
/
2020
Lesch-Nyhan syndrome is a rare X-linked, recessively inherited disorder of purine metabolism, caused by complete absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase. This syndrome is characterized by 3 major features: neurological dysfunction, hyperuricemia, and cognitive and behavioral disturbances (e.g., self-mutilation, which begins at 2 to 3 years of age). Uncontrollable self-mutilation begins with biting of the perioral tissues and extends into patterns such as finger biting and head hitting. This report describes the case of a 31-month-old boy who was diagnosed with Lesch-Nyhan syndrome with severe lip injuries caused by self-mutilative behaviors. The behaviors were blocked with a semi-fixed lip bumper for a short period. The device was applied to the patient on the day of the visit without the requirement for an oral impression. It was easy to manage oral hygiene and adjust the device because it was detachable by clinicians and guardians. Therefore, a semi-fixed lip bumper may be useful as an interim appliance to block selfmutilative behaviors in children with Lesch-Nyhan syndrome.
Objectives : The oriental medicine Jangwonhwan, a boiled extract of 12 medicinal herbs/mushrooms, has been prescribed to patients with cognitive dysfunction, as originally described in the Korean medical text, DonguiBogam(amnesia chapter). Recently, a modified formula of Jangwonhwan (LMK02-Jangwonhwan) consisting of seven medicinal plants/mushrooms, was shown to reduce the ${\beta}$-amyloid deposition in the brain of Tg-APPswe/PS1dE9 mouse model for Alzheimer's disease. The toxicity of LMK02-Jangwonhwan was investigated in SD rats, by a daily oral administration for 13 weeks and NOAEL(No observed adverse effect dose), a definite toxic dose and target organ, as well. Methods : Quality control of the tablet form of LMK02-Jangwonhwan was established by estimating the indicative components, Ginsenoside Rg3 of Red Ginseng and Decursin of Angelicagigas Nakai. The toxicity of LMK02-Jangwonhwan was investigated in 6 week old, specific pathogen free (SPF), Sprageu-Dawley rats by oral administration. Each test group consisted of 10 male and 10 female rats. The groups received doses of 500, 1,000 or 2,000 mg/kg/day of test substance for 13 weeks. The clinical signs, death rate, body weight, food consumption, ophthalmic examination, urinalysis, hematological and serum biochemistry, organ weight and pathological changes were examined and compared with those of the control group. Results : The 13-week repeated oral treatment doses didn't result in any specific symptoms or death. There were no significant changes in the rat's weight and food consumption. Further, ophthalmic examination, urinalysis, hematological, serum biochemistry test and organ weight revealed no significant differences. Conclusions : The no-observed-adverse-effect level(NOAEL) of LMK02 for male and female Sprague-Dawley rats was determined as 2,000mg/kg/day and the target organ wasn't confirmed. Because no significant adverse effects were observed, the target organ could not be determined.
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