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A case of Hyper-IgE syndrome with a mutation of the STAT3 gene (STAT3유전자 돌연변이 검사로 확진된 고면역글로불린E 증후군 1례)

  • Kang, Ji-Man;Suh, Jung-Min;Kim, Ji-Hyun;Kim, Hee-Jin;Kim, Yae-Jean;Lee, Hun-Seok;Shin, Young-Kee;Ahn, Kang-Mo;Lee, Sang-Il
    • Clinical and Experimental Pediatrics
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    • v.53 no.4
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    • pp.592-597
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    • 2010
  • Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$ $aureus$) and $Pseudomonas$ $aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.

Influence of Environmental Living Standards on Helicobacter pylori Infection in Korean Elementary School Children (서울 지역 초등학생의 생활환경과 Helicobacter pylori 양성률)

  • Kim, Je-Woo;Kim, Hyo-Shin;Chung, Ki-Sup
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.4 no.1
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    • pp.10-17
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    • 2001
  • Purpose: We measured anti-H. pylori IgG in Korean elementary school children living in Shinchon area of Seoul, Korea to evaluate the influence of environmental living standards on H. pylori infection. Methods: IgG antibodies to H. pylori were measured in plasma using a commercial ELISA kit (GAP IgG Helicobacter pylori, Bio-Rad Laboratories Inc., Hercules, CA, USA). Information on environmental status such as place of birth, parental income, type of housing, number of persons in the household, parents' occupation, family history of peptic ulcer disease and gastric cancer was obtained. Statistical analysis was done by Chi-square and logistic regression test using SPSS $7.0^{TM}$ for Windows. Results: Study subjects consisted of 571 children, and the age distribution ranged from 6.0 to 13.6 years with a mean of $9.6{\pm}1.8$ years. Male-to-female ratio was 1.1:1. The seropositive rates of H. pylori infection ranged from 10.4% in children aged 6 years to 30.9% in 12 year-old group, overall 16.8%. The prevalence of H. pylori infection progressively increased with age, but there was no significant difference in seropositive rates among children in different age groups (p=0.06). Seropositive rates of anti-H. pylori IgG on the basis of gender, place of birth, parental income, type of housing, parents' occupation, family history of peptic ulcer disease and gastric cancer showed no statistically significant difference. Interestingly, however, seropositive rate of anti-H. pylori IgG showed statistical significance in relation to number of persons in the household (p=0.003; Odds ratio 1.50 by logistic regression test). Conclusion: These results suggest that number of persons in the household is the most important factor among environmental living standards, and that risk of H. pylori infection increases by increment of 1.5 times as the number of persons in the household increases by one.

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The Comparative Analysis Study and Usability Assessment of Fat Suppressed 3D T2* weighted Technique and Fat Suppressed 3D SPGR Technique when Examining MRI for Knee Joint Cartilage Assesment (슬관절 연골 평가를 위한 자기공명영상 검사 시 지방 신호 억제 3D T2* Weighted 기법과 지방 신호 억제 3D SPGR 기법의 비교 및 유용성 평가)

  • Kang, Sung-Jin
    • Journal of the Korean Magnetics Society
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    • v.26 no.6
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    • pp.219-225
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    • 2016
  • In this study, for assessment of degenerative knee joint cartilage disease we acquired images by fat suppressed 3D spoiled gradient recalled (SPGR) and fat suppressed 3D $T2^*$ weighted imaging techniques. To do a quantitative evaluation, the knee joint cartilage was divided into medial femoral cartilage (MFC), medial tibial cartilage (MTC), lateral femoral cartilage (LFC), lateral femoral cartilage (LFC) and patella cartilage (Pat) to measure their respective signal intensity values, signal-to-noise ratio, and contrast-to-noise ratio. As for the measured values, statistical significance between two techniques was verified by using Mann-Whitney U-Test. To do a qualitative evaluation, two radiologists have examined images by techniques after which image artifact, cartilage surface, tissue contrast, and depiction of lesion distinguishing were evaluated based on 4-point scaling (1: bad, 2: appropriate, 3: good, 4: excellent), and based on the result, statistical significance was verified by using Kappa-value Test. 3.0T MR system and HD T/R 8ch knee array coil were used to acquire images. As a result of a quantitative analysis, based on SNR values measured by using two imaging techniques, MFC, LFC, LTC, and Pat showed statistical significance (p < 0.05), but MTC did not (p > 0.05). As a result of verifying statistical significance for measured CNR value, MFC, LFC, and Pat showed statistical significance (p < 0.05), while MTC and LTC did not show statistical significance (p > 0.05). As a result of a qualitative analysis, by comparing mean values for evaluated image items, 3D $T2^*$ weighted Image has indicated a slightly higher value. As for conformance verification between the two observers by using Kappa-value test, all evaluated items have indicated statistically significant results (p < 0.05). 3D $T2^*$ weighted technique holds a clinical value equal to or superior to 3D SPGR technique with respect to evaluating images, such as distinguishing knee joint cartilages, comparing nearby tissues contrast, and distinguishing lesions.

Association of Genetic Variations with Pemetrexed-Induced Cytotoxicity in Non-Small Cell Lung Cancer Cells (비소세포폐암 세포주에서 pemetrexed의 세포독성과 유전학적 다형성과의 상관성 조사)

  • Yoon, Seong-Ae;Choi, Jung-Ran;Kim, Jeong-Oh;Shin, Jung-Young;Zhang, XiangHua;Kang, Jin-Hyoung
    • Journal of Life Science
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    • v.20 no.1
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    • pp.103-112
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    • 2010
  • Pemetrexed has demonstrated clinical activity in non-small cell lung cancer (NSCLC) as well as other solid tumors. It transports into the cells via reduced folate carrier (RFC) and is polyglutamated by folypolyglutamate synthetase (FPGS). Pemetrexed directly inhibits several folate-dependent enzymes such as thymidylate synthase (TS), dihydrofolate reductase (DHFR), and glycinamide ribonucleotide formyltransferase (GARFT). We investigated the effects of genetic variations and the expression of RFC, FPGS, TS and DHFR enzymes on drug sensitivity to pemetrexed in NSCLC cells. Polymorphisms in RFC, FPGS, and DHFR were genotyped in four NSCLC cells - A549, PC14, HCC-1588, and H226. Real-time RT-PCR and Western blot was performed to evaluate mRNA transcripts and protein of these genes. The cytotoxicity of pemetrexed was measured by SRB assay. In PC14 and H226 cells, increased mRNA expressions of RFC and FPGS were associated with higher cytotoxicity to pemetrexed. 2R/2R genotype of TS and its increased mRNA expression were associated with drug resistance to pemetrexed in A549 cells, whereas 3R/3R genotype in TS with decreased mRNA expression was associated with higher sensitivity in H226 cells. After pemetrexed treatment, an inverse change of DHFR mRNA and protein expression was found. The strongest linkage disequilibrium (LD) was discovered between-1726C>T and -1188A>C SNP of DHFR gene. Our findings suggest the cytotoxic effect of pemetrexed may be associated with genetic polymorphisms and the expression level of genes involved in pemetrexed metabolisms in NSCLC cells.

Respiratory Failure of Acute Organophosphate Insecticide Intoxication (유기인제 중독에 의한 호흡부전)

  • Shin, Kyeong-Cheol;Lee, Kwan-Ho;Park, Hye-Jung;Shin, Chang-Jin;Lee, Choong-Ki;Chung, Jin-Hong;Lee, Hyun-Woo
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.3
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    • pp.363-371
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    • 1999
  • Background: Because of the widespread use and availability of agricultural insecticides, acute organophosphate poisoning as a suicide or an accident is becoming the most common type of poisoning and serious problem in Korea. The mortality of organophosphate poisoning varied from 10 to 86 percent. The cause of death was thought to be a combination of excessive bronchial secretion, bronchospasm, respiratory muscle paralysis and depression of respiratory center, summarily respiratory failure. We evaluated the respiratory complications in patients with acute organophosphate intoxication to determine the predisposing, factors to respiratory failure and to reduce the incidence of respiratory failure or mortality. Method: We conducted a retrospective study of 111 patients with the discharge diagnosis of organophosphate poisoning who were hospitalized at Yenugnam University Hospital during the 5 years. The diagnosis of organophosphate poisoning has based on the followings (1) a history of exposure to an organophosphate compounds. (2) the characteristic clinical signs and symptoms. (3) decrease in the cholinesterase activity in the serum. Results: Respiratory failure developed in 31(28%) of 111 patients with acute organophosphate poisoning. All cases of respiratory failure developed within 96 hours after poisoning and within 24 hours in 23 patients. The 80 patients who did not develop respiratory failure survived. In 31 patients with respiratory failure, 15(44%) patients were dead. The patients with respiratory failure had more severe poisoning, that is, the lower level of serum cholinesterase activity on arrival, the higher mean dosage of atropine administered within first 24 hours. In 16 patients with pneumonia, 14 patients developed respiratory failure. In 5 patients with cardiovascular collapse, 2 patients developed respiratory failure. There was no correlation to between age, sex, the use of pralidoxime and respiratory failure. The serum cholinesterase level in survivors at time of respiratory failure and weaning was $66.05{\pm}85.48U/L$, $441{\pm}167.49U/L$, respectively. Conclusion: All the respiratory failure complications of acute organophosphate poisoning occurred during the first 96 hours after exposure. The severity of poisoning and pneumonia were the predisposing factors to respiratory failure. Aggressive treatment and prevention of the above factors will reduce the incidence of respiratory failure.

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The Usefulness of Pleural IFN-$\gamma$ Level in Differential Diagnosis of Tuberculous Pleural Effusion and Malignant Pleural Effusion (결핵성 흉막염과 악성 흉수의 감별진단에 있어서 흉수 IFN-$\gamma$ 측정의 유용성)

  • Kim, Myung-Sun;Yang, Sung-Eun;Chi, Hyun-Sook;Kim, Woo-Sung;Kim, Won-Dong
    • Tuberculosis and Respiratory Diseases
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    • v.45 no.2
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    • pp.280-289
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    • 1998
  • Background: It is sometimes difficult to differentiate tuberculous pleural effusion from malignant pleural effusion by clinical symptoms, signs, by routine tests of pleural fluid, and by pathologic studies. And recently, it was discovered that cytokines such as IL-2, IFN-$\gamma$, TNF-$\alpha$ are elevated in tuberculous pleural fluid, and there have been several attempts to diagnose tuberculous pleural effusion by using these immunological mediators. There are several studies regarding the diagnostic value of IFN-$\gamma$, and there are two studies in Korea. But the diagnostic values of IFN-$\gamma$ in these studies were slightly lower than those in other countries. To compare the diagnostic value of IFN-$\gamma$ with those of CEA and ADA, and to determine the sensitivity and specificity of IFN-$\gamma$ in Korean, we mesured IFN-$\gamma$, CEA level and ADA activity in pleural effusions. Methods: ADA activity, IFN-$\gamma$ level and CEA level as well as cell count, differential count, and biochemical assays such as protein content and lactate dehydrogenase were measured in 40 cases of tuberculous pleuritis and 42 cases of malignant pleural effusion. Results: Tuberculous pleural fluid showed higher levels of IFN-$\gamma$ and ADA ($832.6{\pm}357.2$ pg/ml and $82.5{\pm}25.9$ U/L, respectively) than those of malignant pleural effusion ($2.6{\pm}8.0$ pg/ml and $19.2{\pm}10.9$ U/L, respectively) (p<0.01). Malignant pleural effusions showed higher median value (102.2 ng/ml) than tubercalous pleural effusions (1.8 ng/ml) (p<0.01). The sensitivities of IFN-$\gamma$, ADA, CEA were 0.97, 0.87, 0.67 and the specificities of IFN-$\gamma$, ADA, CEA were 1.0, 0.97, 1.0, respectively. There was no significant correlation between ADA activity and IFN-$\gamma$ level. Conclusion: This study showed that IFN-$\gamma$ test would be a very useful clinical test for differential diagnosis of tuberculous pleuritis and malignant pleural effusion because it is very sensitive and specific, although it is an expensive test.

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A Simple Isolating Method of Preantral Follicles from Mouse Ovaries (생쥐 난소에서 Preantral Follice의 단순 분리법)

  • Kim, Ju-Hwan;Park, Kee-Sang;Song, Hai-Bum;Chun, Sang-Sik
    • Clinical and Experimental Reproductive Medicine
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    • v.27 no.3
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    • pp.235-243
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    • 2000
  • Objective: Our present studies were conducted to examine more effective isolating method of preantral follicles from mouse ovaries. Methods: ICR mice (3-6 weeks old) were sacrificed through cervical dislocation and their ovaries were removed and put into watch glasses containing Hams F-10 supplemented with 10% fetal bovine serum (FBS). Preantral follicles were isolated by three different methods; 1) enzymatical method and 2) mincing method, and 3) scraping method. Enzymatical method was carried out as following. Ovaries were bisected with a pair of fine 30G needles. Bisected ovaries were incubated at $37^{\circ}C$ and 5% $CO_2$ incubator in 2-well dish containing Hams F-10 supplemented with collagenase 600 lU/ml and DNAse 20 lU/ml. After 20 min., follicles were isolated by repeated pipetting. Isolated preantral follicles were collected, and the remnant of tissues was placed in incubator and previous procedure was repeated. Mincing method was carried out with a pair of fine 30G needles attached to 1 ml syringes and minced ovary. Scraping method was carried out with a pair of fine 30G needles and scratched to surface of ovary. The differences between isolating methods were analyzed using Student's t-test and Chi-square. Results were considered statistically significant when ${\rho}$ value was less than 0.05. Results: In handling time, mincing or scraping method ($28{\pm}3.42$ min or $16{\pm}1.58$ min) were significantly (p<0.00001) shorter than enzymatical method ($72{\pm}1.69$ min), and scraping method was significantly (p<0.01) shorter than mincing method. Total number of isolated follicles was significantly (p<0.0001) higher in enzymatical method ($49.8{\pm}3.91$) than in mincing or scraping method ($25.3{\pm}2.33$ or $20.5{\pm}1.75$). Isolated follicles in ${\leq}$90${\mu}m$ were significantly (p<0.005) higher in enzymatical method ($15{\pm}1.71$) than in mincing or scraping method ($7.8{\pm}0.98$ or $8.1{\pm}1.31$). In 91~130 ${\mu}m$, isolated follicles were significantly (p<0.0005) higher in enzymatical method ($33{\pm}3.27$) than in mincing or scraping method ($16.3{\pm}1.82$ or $10.7{\pm}1.38$). In ${\geq}$ 131 ${\mu}m$, isolated follicles were not significantly differences between all groups. In equal sizes, the rate of isolated follicles in ${\leq}$ 90 ${\mu}m$ was highest in scraping method (39.6% vs. enzymatical method: 30.1%, p<0.05; mincing method: 30.9%, p=0.11719, NS). Rate of follicles in $91{\sim}130$ ${\mu}m$ was significantly (p<0.05) lower in scraping method (52.7%) than in enzymatical or mincing method (66.3% or 64.5%). Rate of follicles in ${\geq}$131 ${\mu}m$ was highest in scraping method (8.3% vs. enzymatical or scraping method: 3.6%, p<0.05 or 4.6%, p=0.19053, NS). Conclusions: This study suggests that scraping method is simple and useful for isolation of preantral follicles, because this method reduced handling time and recovered enough follicles. The recovered rate of isolated follicles in diameter of 91 ~ 130 ${\mu}m$ was highest in all methods.

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Correlations of Leptin, Adiponectin and Leptin/Adiponectin Ratio with Metabolic Disorders in the Childhood Obesity (소아 비만에서 Leptin, Adiponectin 및 Leptin/Adiponectin Ratio와 대사 장애의 연관성에 관한 연구)

  • Cho, Sung Jong;Kim, Eun Young;Moon, Kyung Rye
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.9 no.1
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    • pp.48-57
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    • 2006
  • Purpose: To investigate the correlation of the serum leptin, adiponectin, and leptin/adiponectin ratio with metabolic disorders in the childhood obesity. Methods: Fifty children (25 obese and 25 non-obese) were recruited in the pediatric outpatient clinic of Chosun University Hospital from January 1st to June 30th 2005. Adiponectin, leptin, anthropometric parameters, glucose, LDL-cholesterol, HDL-cholesterol, total cholesterol, triglyceride, and insulin levels were measured. The correlations of leptin and adiponectin levels with anthropometric parameters, glucose, insulin and lipids were analyzed by Pearson's correlation coefficients. Results: Insulin and leptin levels of the obese group were significantly higher than those of the non-obese group (p<0.05, p<0.001 respectively). HDL-cholesterol and adiponectin levels of the obese group were significantly lower than those of the non-obese group (p<0.005, p<0.05 respectively). In the obese group, leptin level was positively correlated with BMI and the percentage of body fat, but negatively correlated with adiponectin level. Moreover, adiponectin level of the obese group was negatively correlated with BMI and the percentage of body fat, but positively correlated with leptin level. In the non-obese group, only insulin level was positively correlated with adiponectin. In the obese group, leptin/adiponectin ratio was positively correlated with the percentage of body fat and leptin level. Also, leptin/adiponectin ratio was positively correlated with BMI and the percentage of body fat in the non-obese group. Conclusion: Leptin, adiponectin, and leptin/adiponectin ratio did not appear to have a major role linking various metabolic disorders in the childhood obesity, even though they were strongly associated with obesity indices. Also, leptin/adiponectin ratio was associated with obesity indices even in non-obese children.

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A Study on Effective Information Delivery of Digital Sign Systems in General Hospitals (종합병원 디지털 정보안내사인의 효과적 정보전달을 위한 연구)

  • Kim, Hwa Sil;Paik, Jin Kyung
    • Korea Science and Art Forum
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    • v.19
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    • pp.281-292
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    • 2015
  • For this study, I conducted a survey investigating current situation, user preference, and field experiment. Hospitals utilizing digital sign systems at least five years were selected, which are connected with visual elements (layout, typo, color) used in waiting areas and elements of the systems (time, video time line). The results obtained from the field survey showed that digital sign systems used the color of typo and background contrasted to one another to increase explicitness and to ensure easy understanding of contents. In addition, the Gothic typo with relatively high legibility was adopted. Time and video timeline, which characterize digital sign systems, showed the advertising screens of the hospitals and the guidance of medical treatment at regular intervals. Moreover, survey results on user satisfaction showed that a majority of respondents indicated they had difficulty in understanding digital information conveyed from digital sign systems due to time setting for rotational speed or the small size of typo although most of the users had previous experience with digital sign systems. The highest proportion of respondents (n=86, 86%) answered that information related to medical departments was what they sought most frequently and that this kind of information should be importantly considered in digital sign systems. For the experiment, new samples with restructured contents of current digital sign systems were created and tested while keeping its design unchanged as well as applying these new samples. Study participants were in their 20s through 50s. When the size of typo was larger under the same conditions for all age groups, study participants found the desired information approximately 3.5 seconds faster. In addition, those in their 20-30s and 40-50s showed the time difference of 4.7 seconds for small typo and 6 seconds for large typo, which suggested that there was a difference by age in the amount of time taken in the experiment to find the desired information from the rotating digital sign system regardless of age and the size of typo.

Effect of the Ayres Sensory Integration Intervention on the Motor Skills and Occupation Participation of Preschool Children with Attention-Deficit/Hyperactivity Disorder (Ayres의 감각통합중재가 학령전기 주의력결핍 과잉행동장애(ADHD) 성향 아동의 운동기능 및 작업참여에 미치는 영향)

  • Jung, Yun-Jin;Kang, Je-wook;Chang, Moon-young;Kim, Kyeong-Mi
    • The Journal of Korean Academy of Sensory Integration
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    • v.22 no.1
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    • pp.1-14
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    • 2024
  • Objective : This study aimed to investigate the impact of Ayres' sensory integration (ASI) intervention on motor skills and occupational participation of preschool children with attention-deficit/hyperactivity disorder (ADHD). Method : Children with ADHD aged between 4 and 6 years who met the inclusion and exclusion criteria were randomly recruited through screening tests. The subjects were divided into an experimental group (10 subjects) and a control group (8 subjects). The instruments used were the Bruininks-Oseretsky test of motor proficiency-2 (BOT-2), Pediatric Evaluation of Disability Inventory (PEDI), and Goal Attainment Scale (GAS) to evaluate occupational participation. The subjects in the experimental group underwent individual sensory integration therapy according to the ASI principles for 40 minutes twice a week in a total of 16 sessions over eight weeks. The control group did not receive the ASI intervention. Data analysis was performed using the Mann-Whitney U test, chi-squared test, Wilcoxon signed-rank test, and Cohen's d test in SPSS 20.0. Results : The ASI experimental group had significantly higher scores in total motor composite, manual coordination, body coordination, strength, and agility in motor function than the control group (p<.05). The two groups did not differ significantly in terms of occupational participation (PEDI), but GAS scores for individual target activities were significantly higher in the experimental group than in the control group (p<.05). Conclusion : This study shows that the ASI intervention has positive effects on motor skills and occupation participation among preschool children with ADHD.