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The First Newborn Screening Study of T-Cell Receptor Excision Circle and κ-Deleting Recombination Excision Circle for Severe Combined Immunodeficiency in Korea: A Pilot Study (국내 최초 T-Cell Receptor Excision Circle과 κ-Deleting Recombination Excision Circle 신생아 선별검사에 관한 연구)

  • Son, Sohee;Kang, Ji-Man;Kim, Jong Min;Sung, Sein;Kim, Yi-Seoul;Lee, Haejeong;Kim, BitA Reum;Lee, Yeon Kyoung;Ko, Sun Young;Shin, Son Moon;Kim, Yae-Jean
    • Pediatric Infection and Vaccine
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    • v.24 no.3
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    • pp.134-140
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    • 2017
  • Purpose: Severe combined immunodeficiency (SCID) is the most serious form of primary immunodeficiency. Infants with SCID are susceptible to life-threatening infections. To establish newborn screening for SCID in Korea, we performed a screening test for T-cell receptor excision circle (TREC) and ${\kappa}$-deleting recombination excision circle (KREC) in neonates and investigated the awareness of SCID among their parents. Methods: Collections of dried blood spots from neonates and parent surveys were performed at the Samsung Medical Center and Cheil General Hospital & Women's Healthcare Center in Korea. The amplification crossing point (Cp) value <37.0 was defined as TREC/KRECpositive based on cutoff values from measuring multiplex real-time polymerase chain reaction. A Cp value >39.0 was defined as negative. Results: For TREC/KREC screening, 141 neonates were enrolled; 63 (44.7%) were male. One hundred forty neonates (99.3%) had positive TREC/KREC results at the time of the initial test; 82.3% and 75.9% were positive and 17.0% and 23.4% were weakly positive for TREC and KREC, respectively. In one neonate (0.7%), the initial TREC/KREC test result was negative. However, repeated tests obtained and confirmed a positive result. For an awareness survey, 168 parents were engaged. Only 2% of parents (3/168) knew that the newborn screening test for SCID had been introduced and performed in other countries. Eighty-four percent of parents (141/168) replied that nationwide newborn SCID screening should be performed in Korean newborns. Conclusions: In this study, newborn SCID screening was performed along with assessment of public awareness of the SCID test in Korea. The study results showed that newborn SCID screening can be readily applied for clinical use at a relatively low cost in Korea.

Bacterial Infections after Liver Transplantation in Children: Single Center Study for 16 Years (16년간 단일기관에서 시행된 소아 간이식 후 세균 감염 합병증의 특징)

  • Kim, Jae Choon;Kim, Su Ji;Yun, Ki Wook;Choi, Eun Hwa;Yi, Nam Joon;Suh, Kyung Suk;Lee, Kwang-Woong;Lee, Hoan Jong
    • Pediatric Infection and Vaccine
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    • v.25 no.2
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    • pp.82-90
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    • 2018
  • Purpose: Survival after liver transplantation (LT) has improved over the years, but infection is still a major complication. We aimed to identify the characteristics of bacterial infections in pediatric LT recipients. Methods: This study is a retrospective review of 189 consecutive children undergoing LT between 2000 and 2015 at a single center. In this study, the incidence of infection was determined for the following periods: within 1 month, between 1-5 months, and between 6-12 months. Patients who underwent liver transplants more than once or multiple organ transplants were excluded. Results: All patients had received postoperative antibiotic for 3 days. Only the maintenance immunosuppression with oral tacrolimus and steroids were performed. As a result, 132 bacterial infections developed in 87 (46.0%) patients (0.70 events per person-year). Bacterial infections occurred most frequently within the first month (n=84, 63.6%) after LT. In the pathogens, Staphylococcus aureus (15.2%), Enterococcus species (15.2%), and Klebsiella species (13.6%) were most common. Regarding the organ infected, bloodstream was most common (n=39, 29.5%), followed by peritoneum (n=28, 21.2%), urinary tract (n=25, 18.9%), and lungs (n=20, 15.2%). We changed prophylactic antibiotics from ampicillin-sulbactam to piperacillin-tazobactam at 2011, October, there were no significant effects in the prevalence of antibiotics resistant bacterial infections. The 1-year mortality was 9.0% (n=17), in which 41.2% (n=7) was attributable to bacterial infection; septicemia (n=4), pneumonia (n=2), and peritonitis (n=1). Conclusions: The incidence and type of bacterial infectious complications after LT in pediatric patients were similar to those of previous studies. Bacterial complications affecting mortality occur within 6 months after transplantation, so proper prophylaxis and treatment in this period may improve the prognosis of LT.

The Effect of working Noise Exposure and Military Background on the Hearing Threshold (특수병과의 과거 군 소음 노출이 소음 노출 작업자의 청력에 미치는 영향)

  • Chung, Ho-Keun;Kim, Kyoo-Sang
    • Journal of Preventive Medicine and Public Health
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    • v.36 no.2
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    • pp.137-146
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    • 2003
  • Objectives : Impaired hearing is a prevalent occupational hazard, not only in industry, but also in the armed forces. In military life, noise has unusual characteristics, and constitutes a serious hazard to hearing. The aim of this study was to analyze the hearing threshold data in order to compare the hearing loss among shipyard workers, representing different workers, and a military service background. Methods : A cross-sectional audiological survey, combined with a questionnaire study, was conducted on a stratified random sample of 440 shipyard workers, with long-term exposure to noise. The employees were divided into four groups, according to their working and military service backgrounds, in relation to their exposure to noise. Results : As expected, the working and military noise exposure group (Group I) had significantly poorer hearing than the other groups. The high frequencies (2-8 kHz) showed the greatest difference in terms of poorer fearing in both ears. The prevalence of noise-induced hearing loss (NIHL) was highest in Group I. A logistic regression analysis was applied to determine the dependence of the NIHL in relation to age, smoking, drinking, working duration, ear protection, past history of ear diseases, and working and military sonics backgrounds, on the noise exposure The important factors found to be related to the NIHL, in relation to noise exposure were: age, work duration, and working and military service backgrounds. The adjusted odds ratio estimates for NIML in the right ear were 4.5 times greater (95% CI 1.7-11.6) for the military noise exposed group, and 7.9 times greater (95% CI 2.0-31.3) for the working noise exposed group than in the controls. The hearing thresholds at the pure-tone average and 4 kHz were significantly increased with age and work duration with both the working and military service backgrounds. Conclusions : From these results, specific preventive programs were planned, which should be assessed by epidemiological surveillance of the military noise exposed population.

Initial $^{99m}Technetium-dimercaptosuccinic$ Acid (DMSA) Renal Scan Finding and Vesicoureteral Reflux as Predicting Factor of Renal Scarring (신반흔 예측인자로서 초기 $^{99m}Technetium-dimercaptosuccinic\;Acid$ 신주사 소견과 방광요관 역류의 유무 및 정도)

  • Lee Soo-Yeon;Lim So-Hee;Lee Dae-Yeol
    • Childhood Kidney Diseases
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    • v.7 no.1
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    • pp.44-51
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    • 2003
  • Purpose : Acute pyelonephritis in children may result in permanant renal damage which later in life may lead to hypertension and renal failure. The purpose of this study was to evaluate the factors that might be useful for predicting the development of renal scar in children with urinary tract infection(UTI). Methods : We retrospectively reviewed 442 patients with UTI who were admitted to the Department of Pediatrics of Chonbuk National University Hospital, during the period from April 1992 to March 2002. The patients were divided into two groups according to the presence of renal scar on the follow-up DMSA renal scan, and we compared the factors associated with renal scarring between the two groups. Results : There were no significant differences in sex, causative organism and acute phase reactants between the groups with and without renal scar. The age at diagnosis was significantly higher in the renal scar group compared to that without scar. Of the 60 patients with renal scar, 78% had vesicoureteral reflux(VUR), but 13% of patients without scar had VUR. Furthermore, the severity of VUR was significantly correlated with renal scar formation. 53% showed multiple cortical defects on the initial DMSA renal scan, compared to 32% in the non-scar group. In addition, 76% of patients showing multiple cortical defects on the initial DMSA renal scan with VUR had renal scar. Conclusion : The presence and grade of VUR, and findings on the initial DMSA renal scan would contribute to predict risk of renal scar formation in children with UTI.

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Analysis of the Risk Factors Influencing the Severity of Injury in Pediatric Multiple Trauma Patients (소아 다발성 외상 환자의 중증도에 영향을 미치는 위험인자에 관한 분석)

  • Lee, Gang-Wook;Kim, Sun-Pyo;Kim, Seong-Jung;Cho, Soo-Hyung;Cho, Nam-Soo
    • Journal of Trauma and Injury
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    • v.23 no.2
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    • pp.68-74
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    • 2010
  • Purpose: The purpose of this study is, first, to analyze the risk factors that influence the severity of injury in pediatric multiple trauma patients and, second, to present solutions for the problems related to the treatment of such patients. Our living situations are so complicated that the danger of accidents is truly open to children who are not prepared. We need to draw attention to the increased numbers of various accidents involving children. Methods: We studied patients who visited the Emergency Medical Center at Chosun University Hospital from January 1, 2006, to December 31, 2008. Using medical records, we evaluated the general characteristics: the mechanism of injury, the vital signs, the revised trauma score (RTS), the injury severity score (ISS), and the hemoglibin value, which was checked at the time of visit, and the presence or the absence of emergent on regular surgery. We divided the level of injury as follows: light level (1-8 points), mid level (9-15 points), and serious level (above 16 points). We analyzed the medical data by using SPSS 17.0 for windows. Results: The average age of the patients examined was 8.6 years. The number of 6- to 11-year-old patients was 96, which was the largest, but the degree of injury severity was the highest among infant (0-2 years), according to ISS 7.95(${\pm}6.85$). The frequency of accidents was highest on sunny days, and most accidents occurred from 16:00 to 20:00. The cause of multiple trauma for children was the greatest in the traffic accident, (95 patients, 49.0%). In addition, the trauma caused by traffic accidents showed the highest ISS value ($9.02{\pm}6.42$) and the most serious degree (P=0.004). The ISS level of injury ($8.40{\pm}6.64$) for patients moved from a secondary hospital was higher than that ($6.49{\pm}5.57$) for patients who visited the medical center directly. The severity of injury was highest for patients who used a 119 ambulance ($8.84{\pm}5.80$). According to the injured parts of body, Injuries to the arms and the feet most frequent (79 patients, 40.7%), but the level of injury was the highest for internal organs and chest, $16.42{\pm}8.56$ and $11.23{\pm}6.97$, respectively. Conclusion: We used Abbreviated Injury Scale (AIS) in order to examine the characteristics by injured body part for pediatric multiple trauma patients. Because the degree of injury was the highest for internal organs or the chest, we need to more seriously examine and provide for patients who are suspected of having injuries to the internal organs or the chest. We need to quickly determine the need for surgery in patients with serious injuries to the arms and the feet, which is the greatest in frequency. In particular, we need to consider the surgical care of patients who are not very high in the severity of injury to their brains.

Acute Respiratory Infections in the Neonatal Intensive Care Unit: Isolation of Viruses and the Characteristics of Respiratory Syncytial Virus Infection (신생아집중치료실에서의 급성 호흡기 감염-바이러스의 검출 및 respiratory syncytial virus 감염의 임상적 특징)

  • Park, Sun-Hee;Cho, Hye-Jung;Shim, So-Yeon;Son, Dong-Woo;Eun, Byung-Wook;Sun, Yong-Han;Tchah, Hann;Jeon, In-Sang
    • Neonatal Medicine
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    • v.16 no.2
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    • pp.182-189
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    • 2009
  • Purpose: Recently, it is easy to find the causal virus of acute respiratory infections using multiplex RT-PCR. The aim of this study is to show the distribution of respiratory viruses and to define the characteristics of respiratory syncytial virus (RSV) infections compared to other respiratory viral infections. Methods: This was a prospective observational study conducted in the NICU. The infants with acute respiratory infections were performed multiplex RT-PCR using nasal swabs. The demographics, initial symptoms, course of illness, and laboratory and imaging findings were recorded. The infants were divided into RSV and No RSV groups. Results: Twenty-three infants (50%) were in the RSV group. Rhinovirus was the second most common virus. Coinfections with two viruses accounted for 6.5% of respiratory infections. The number of preterm infants, exposure to cigarette smoke and having siblings were not different between the two groups. Infections in the postnatal care center were more common in the RSV group than the No RSV group (60.9% vs. 21.7%, P=.007). Dyspnea (34.8% vs. 8.7%, P=.032) and pneumonia (73.9% vs. 43.5%, P=.036) were more common in the RSV group. The RSV group frequently needed oxygen (52.5% vs. 13.0%, P=.005) and received nothing by mouth (43.5% vs. 13.0%, P=.022). The incidence of right upper consolidation was higher in RSV group (56.5% vs. 8.7%, P=.001). Conclusion: This study showed that other viruses than RSV can induce respiratory infections in neonates and young infants born prematurely. RSV infections have a more severe course of illness than other respiratory viruses. We have to be careful of prevention even for healthy neonates especially in crowed situations, such as the postnatal care center.

Clinical Characteristics of Bronchopulmonary Dysplasia by Type and Severity (기관지폐이형성증의 유형 및 중증도에 따른 임상적 특징)

  • Shim, Gyu-Hong;Lee, Hyun-Ju;Kim, Eun-Sun;Lee, Jin-A;Choi, Chang-Won;Kim, Ee-Kyung;Kim, Han-Suk;Kim, Beyong-Il;Choi, Jung-Hwan
    • Neonatal Medicine
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    • v.17 no.1
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    • pp.21-33
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    • 2010
  • Purpose : The increased survival of preterm infants in the neonatal intensive care unit recently has resulted in an increased frequency of bronchopulmonary dysplasia (BPD), especially with atypical forms. However, there have been few studies compairing classic and atypical BPD. The aim of this study was to investigate the differences between these two types of BPD. Methods : Infants with a gestational age less than 32 weeks born at the Seoul National University Hospital and Bundang Seoul National University Hospital from May 2004 to April 2007 were included. The data were categorized in 2 groups, classic and atypical BPD. We determined the incidence of BPD, and compared perinatal factors and postnatal managements between two groups. Results : Among 260 study subjects, 141 (54.2%) infants had BPD. Classic BPD infants were 64 and atypical BPD infants were 77. Comparison of differences between 2 groups, classic BPD infants were associated with respiratory distress syndrome, patent ductus arteriosus, intrauterine growth restriction, more high-frequency ventilator (HFV) use, low 1 and 5 minute Apgar scores. Atypical BPD infants were associated with antenatal steroid use, maternal premature rupture of membrane and chorioamnionitis (CAM). In multivariate analysis, more HFV use was associated with classic BPD. Antenatal steroid use, clinical CAM and histological CAM were associated with atypical BPD. Conclusion : The results of this study showed that antenatal factors (antenatal steroid use, clinical CAM, histological CAM) were associated with atypical BPD and postnatal factors (HFV used more) were associated with classic BPD. Further studies are needed for prevention and treatment of BPD.

Thyrotropin-Binding Inhibiting Immunoglobulin(TBII) in Patients with Autoimmune Thyroid Diseases (자가면역성 갑상선질환에서의 혈청 Thyrotropin-Binding Inhibiting Immunoglobulin치)

  • Jang, Dae-Sung;Ahn, Byeong-Cheol;Sohn, Sang-Kyun;Lee, Jae-Tae;Lee, Kyu-Bo
    • The Korean Journal of Nuclear Medicine
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    • v.30 no.1
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    • pp.65-76
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    • 1996
  • In order to evaluate the significance of thyrotropin-binding inhibiting immunoglobulin (TBII) in the patients with autoimmune thyroid diseases, the authors investigated 402 cases of Graves' disease and 230 cases of Hashimoto's thyroiditis comparing 30 cases of normal healthy adult at Kyung Pook University Hospital from February 1993 to August 1994. The TBII was tested by radioimmunoassay and assesed on the dynamic change with the disease course, thyroid functional parameters, and other thyroid autoantibodies : antithyroglobulin antibody (ATAb) and antimicrosomal antibody (AMAb) including thyroglobulin. The serum level of TBII was $40.82{\pm}21.651(mean{\pm}SD)%$ in hyperthyroid Graves' disease and $8.89{\pm}14.522%$ in Hashimoto's thyroiditis and both were significant different from normal control of which was $3.21{\pm}2.571%$. The frequency of abnormally increased TBII level was 92.2% in hyperthyroid Graves' disease, 46.7% in euthyroid Graves' disease or remission state of hyperthyroidism, and 23.9% in Hashimoto's thyroiditis. The serum levels of increased TBII in Graves' disease were positively correlated with RAIU, serum T3, T4, and FT4, but negatively correlated with serum TSH(each P<0.001). The TBII in Graves' disease had significant positive correlation with serum thyroglobulin and AMAb, but no significant correlation with ATAb. In the Hashimoto's thyroiditis, the serum levels of TBII were positively correlated with RAIU, serum T3, TSH and AMAb, but not significantly correlated with serum T4, FT4, thyroglobulin and ATAb. Therefore serum level of TBII seemed to be a useful mean of assessing the degree of hyperthyroidism in Graves' disease and correlated well with thyroidal stimulation. The serum level of TBII in Hashimoto's thyroiditis is meaningful for the degree of both functional abnormality reflecting either hyperfunction or hypofunction and the immune logic abnormality.

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Dipyridamole Induced Transient Left Ventricular Dysfunction in the Tl-201 Gated Myocardial SPECT (Tl-201 게이트 심근 SPECT에서 디피리다몰 부하로 유도된 일시적 좌심실 기능이상)

  • Won, Kyoung-Sook
    • The Korean Journal of Nuclear Medicine
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    • v.37 no.3
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    • pp.153-161
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    • 2003
  • Purpose: Recently the occurrence of dipyridamole stress-induced short term stunning was proven and it is reported that Bland Altman analysis by repeated acquisition Tl-201 gated myocardial SPECT (gSPECT) revealed the 95% limit of agreement for LVEF was 10.3 %. The purpose of this study was to investigate the clinical value of dipyridamole induced transient LV dysfunction on Tl-201 gSPECT. Materials and Methods: Total 93 patients were included and coronary angiography was peformed in all patients less than 2 month from gSPECT. The patients with myocardial infarction were excluded. All patients underwent both dipyridamole stress and 4-h redistribution Tl-201 gSPECT. Forty nine patients of total 93 showed normal coronary arteries (Group 1) and the remaining 44 patients had coronary artery disease (Group 2). We compared LV EF, EDV and ESV during post-stress and 4-h redistribution period calculated by gSPECT using quantitative gated SPECT software and the incidence of dipyridamole induced transient LV dysfunction between group 1 and 2. The criteria for transient LV dysfunction was defined more decrease ${\geq}11%$ of LVEF during post-stress than 4-h redistribution according to previous reported Bland Altman analysis. Results: During post-stress and 4-h redistribution average of 3.1% increment in LVEF, 6.6% increment in LVEDV and 0.7% decrement in LVESV were shown after stress in Group 1, whereas 4.1% decrement, 9.7% increment and 7.2% increment in Group 2 respectively. Dipyridamole induced transient LV dysfunction was only detected in group 2 (18.2%) and not in group 1. It was more frequently observed in triple vessel disease and left main disease (31.8%, N=22) than one and two vessel disease (4.5%, N=22). Conclusion: As with Tc-99m myocardial agent post-stress LV dysfunction was observed in dipyridamole Tl-201 gSPECT. It was only detected in CAD and more frequently occurred in multivessel disease. Thus this finding seems to provide additional information in the diagnosis of coronary artery disease and prediction of prognosis.

Performance Evaluation of a Pinhole Collimator According to the Aperture Diameter (핀홀 콜리메이터 초점의 직경 크기 별 성능비교 및 평가)

  • Lee, Kwang Hun;An, Byung Ho;Kim, Soo Young;Choi, Sung Wook
    • The Korean Journal of Nuclear Medicine Technology
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    • v.18 no.1
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    • pp.104-109
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    • 2014
  • Purpose: Conventional pinhole scintigraphy offers a high resolution and generally use for thyroid scan or bone scintigraphy. the aim of this study is to evaluate performance of each aperture according to the diameter size. Materials and Methods: In this study 2 mm, 4 mm, 6 mm, 8 mm diameter pinhole collimators were mounted on Siemens E.CAM systems. In order to evaluate performance evaluation of each aperture, we acquired projection image by using SPECT for evaluating FWHM, resolution test and static image for evaluating thyroid phantom test. Results: As a result of FWHM showed 2.2 mm FWHM, 3.2 mm FWHM, 5.4 mm FWHM, 7.5 mm FWHM per each aperture in the resolution test. SNR, uniformity, contrast were acquired result from thyroid phantom test comparing general image and delayed image. as a result of SNR showed 6.55, 8.47, 6.2, 5.23 in case of general image and 5.25, 5.01, 5.38, 5.82 in case of delayed image per each aperture. as a result of uniformity showed 0.152, 0.118, 0.161, 0.19 in case of general image and 0.19, 0.199, 0.185, 0.171 in case of delayed image per each aperture. as a result of contrast showed 1.31, 1.19, 1.15, 1.01 in case of general image and 1.09, 1.08, 1.04, 1 in case of delayed image per each aperture. Conclusion: Resolution and sensitivity were heavily influenced by aperture size. and also we found advantage of delayed image as a result of thyroid phantom test.

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